chr17:37879588:A>G Detail (hg19) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,879,588-37,879,588 |
| hg38 | chr17:39,723,335-39,723,335 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001005862.2:c.1873A>G | NP_001005862.1:p.Ile625Val |
| NM_001289936.1:c.1873A>G | NP_001276865.1:p.Ile625Val | |
| NM_001289937.1:c.1963A>G | NP_001276866.1:p.Ile655Val |
Summary
MGeND
| Clinical significance |
Uncertain significance
not provided
|
| Variant entry | 1,435 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.144 |
| ToMMo:0.134 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.126 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
Colorectal |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
not provided
|
cervical part of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
upper third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
middle third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
lower third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
oesophagus, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
fundus of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
pyloric antrum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
stomach, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
duodenum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
jejunum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ileum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
small intestine, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
appendix |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
anal canal |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
intrahepatic bile duct carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of gallbladder |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
extrahepatic bile duct |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ampulla of vater |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
head of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
tail of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
retroperitoneum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
1993-02-01 | no assertion criteria provided | ERBB2 POLYMORPHISM |
germline
|
Detail |
|
not provided
|
2013-09-19 | no assertion provided | not specified |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.019 | breast carcinoma | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.096 | Malignant neoplasm of breast | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.016 | breast carcinoma | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.099 | Malignant neoplasm of breast | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.080 | breast carcinoma | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.102 | Malignant neoplasm of breast | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.022 | breast carcinoma | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.240 | Malignant neoplasm of breast | A case-control study of the HER2 Ile655Val polymorphism and risk of breast cance... | BeFree | 18062925 | Detail |
| 0.240 | Malignant neoplasm of breast | HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a populat... | BeFree | 16416013 | Detail |
| 0.080 | breast carcinoma | Studies on the association between the Ile to Val polymorphism at codon 655 of t... | BeFree | 18090908 | Detail |
| 0.069 | stomach carcinoma | Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... | BeFree | 23844533 | Detail |
| 0.070 | Malignant neoplasm of stomach | Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... | BeFree | 23844533 | Detail |
| 0.047 | breast carcinoma | A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200... | BeFree | 17687647 | Detail |
| 0.036 | breast carcinoma | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | BeFree | 23086302 | Detail |
| 0.080 | breast carcinoma | Association between the HER2 Ile655Val polymorphism and response to trastuzumab ... | BeFree | 24608202 | Detail |
| 0.104 | Malignant neoplasm of breast | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... | BeFree | 23594562 | Detail |
| 0.080 | breast carcinoma | Lack of replication for the association between HER2 I655V polymorphism and brea... | BeFree | 21474413 | Detail |
| 0.080 | breast carcinoma | The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. | BeFree | 14569185 | Detail |
| 0.240 | Malignant neoplasm of breast | The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. | BeFree | 15970791 | Detail |
| 0.080 | breast carcinoma | Increased risk of breast cancer associated with the I655V allele was also observ... | BeFree | 14569185 | Detail |
| 0.240 | Malignant neoplasm of breast | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | BeFree | 23086302 | Detail |
| 0.128 | Malignant neoplasm of breast | A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200... | BeFree | 17687647 | Detail |
| 0.240 | Malignant neoplasm of breast | HER-2/neu Ile655Val polymorphism and the risk of breast cancer. | BeFree | 18837888 | Detail |
| 0.240 | Malignant neoplasm of breast | Association between the HER2 Ile655Val polymorphism and response to trastuzumab ... | BeFree | 24608202 | Detail |
| 0.240 | Malignant neoplasm of breast | One of these, Ile655Val, introduces a structural change in the transmembrane reg... | BeFree | 17452776 | Detail |
| 0.240 | Malignant neoplasm of breast | HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 ... | BeFree | 20401632 | Detail |
| 0.240 | Malignant neoplasm of breast | A case (n=250)-control (n=500) study was undertaken to investigate the role of S... | BeFree | 18058229 | Detail |
| 0.080 | breast carcinoma | The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years... | BeFree | 14578152 | Detail |
| 0.080 | breast carcinoma | A case-control study of the HER2 Ile655Val polymorphism and risk of breast cance... | BeFree | 18062925 | Detail |
| 0.080 | breast carcinoma | The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. | BeFree | 15970791 | Detail |
| 0.080 | breast carcinoma | HER-2/neu Ile655Val polymorphism and the risk of breast cancer. | BeFree | 18837888 | Detail |
| 0.080 | breast carcinoma | Recent studies indicated an association between the Ile to Val polymorphism at c... | BeFree | 11857355 | Detail |
| 0.360 | Malignant neoplasm of breast | Increased risk of breast cancer associated with the I655V allele was also observ... | BeFree | 14569185 | Detail |
| 0.080 | breast carcinoma | HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 ... | BeFree | 20401632 | Detail |
| 0.005 | Precancerous Conditions | Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... | BeFree | 23844533 | Detail |
| 0.240 | Malignant neoplasm of breast | Lack of replication for the association between HER2 I655V polymorphism and brea... | BeFree | 21474413 | Detail |
| 0.080 | breast carcinoma | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | BeFree | 23086302 | Detail |
| 0.080 | breast carcinoma | Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Ira... | BeFree | 15374636 | Detail |
| 0.022 | stomach carcinoma | Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suita... | BeFree | 23844533 | Detail |
| 0.080 | breast carcinoma | One of these, Ile655Val, introduces a structural change in the transmembrane reg... | BeFree | 17452776 | Detail |
| 0.051 | Malignant neoplasm of breast | HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | BeFree | 23086302 | Detail |
| 0.004 | Precancerous Conditions | Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... | BeFree | 23844533 | Detail |
| 0.032 | Invasive breast carcinoma | A case-control study of the HER2 Ile655Val polymorphism in relation to risk of i... | BeFree | 15987431 | Detail |
| 0.240 | Malignant neoplasm of breast | Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Ira... | BeFree | 15374636 | Detail |
| 0.240 | Malignant neoplasm of breast | The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. | BeFree | 14569185 | Detail |
| 0.030 | Malignant neoplasm of stomach | Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suita... | BeFree | 23844533 | Detail |
| 0.240 | Malignant neoplasm of breast | Studies on the association between the Ile to Val polymorphism at codon 655 of t... | BeFree | 18090908 | Detail |
| 0.080 | breast carcinoma | HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a populat... | BeFree | 16416013 | Detail |
| 0.080 | breast carcinoma | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... | BeFree | 23594562 | Detail |
| 0.240 | Malignant neoplasm of breast | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... | BeFree | 23594562 | Detail |
| 0.080 | breast carcinoma | HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... | BeFree | 23594562 | Detail |
| 0.169 | Carcinogenesis | Ile/Ile homozygosity at codon 655 of HER2 in schwannoma may imply some role in t... | BeFree | 22315174 | Detail |
| 0.240 | Malignant neoplasm of breast | Recent studies indicated an association between the Ile to Val polymorphism at c... | BeFree | 11857355 | Detail |
| 0.240 | Malignant neoplasm of breast | The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years... | BeFree | 14578152 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) AND ERBB2 POLYMORPHISM | ClinVar | Detail |
| NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) AND not specified | ClinVar | Detail |
| NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) AND not provided | ClinVar | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. | DisGeNET | Detail |
| HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-contr... | DisGeNET | Detail |
| Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial ... | DisGeNET | Detail |
| Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... | DisGeNET | Detail |
| Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... | DisGeNET | Detail |
| A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembra... | DisGeNET | Detail |
| HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | DisGeNET | Detail |
| Association between the HER2 Ile655Val polymorphism and response to trastuzumab in women with operab... | DisGeNET | Detail |
| HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | DisGeNET | Detail |
| Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a sy... | DisGeNET | Detail |
| The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. | DisGeNET | Detail |
| The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. | DisGeNET | Detail |
| Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... | DisGeNET | Detail |
| HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | DisGeNET | Detail |
| A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembra... | DisGeNET | Detail |
| HER-2/neu Ile655Val polymorphism and the risk of breast cancer. | DisGeNET | Detail |
| Association between the HER2 Ile655Val polymorphism and response to trastuzumab in women with operab... | DisGeNET | Detail |
| One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has... | DisGeNET | Detail |
| HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies... | DisGeNET | Detail |
| A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... | DisGeNET | Detail |
| The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years. | DisGeNET | Detail |
| A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. | DisGeNET | Detail |
| The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. | DisGeNET | Detail |
| HER-2/neu Ile655Val polymorphism and the risk of breast cancer. | DisGeNET | Detail |
| Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 an... | DisGeNET | Detail |
| Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... | DisGeNET | Detail |
| HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies... | DisGeNET | Detail |
| Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... | DisGeNET | Detail |
| Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a sy... | DisGeNET | Detail |
| HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | DisGeNET | Detail |
| Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women. | DisGeNET | Detail |
| Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suitable as markers for i... | DisGeNET | Detail |
| One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has... | DisGeNET | Detail |
| HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. | DisGeNET | Detail |
| Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... | DisGeNET | Detail |
| A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cance... | DisGeNET | Detail |
| Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women. | DisGeNET | Detail |
| The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. | DisGeNET | Detail |
| Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suitable as markers for i... | DisGeNET | Detail |
| Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial ... | DisGeNET | Detail |
| HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-contr... | DisGeNET | Detail |
| HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | DisGeNET | Detail |
| HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | DisGeNET | Detail |
| HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. | DisGeNET | Detail |
| Ile/Ile homozygosity at codon 655 of HER2 in schwannoma may imply some role in tumorigenesis of Ile6... | DisGeNET | Detail |
| Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 an... | DisGeNET | Detail |
| The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1136201 dbSNP
- Genome
- hg19
- Position
- chr17:37,879,588-37,879,588
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1190
- Mean of sample read depth (HGVD)
- 38.11
- Standard deviation of sample read depth (HGVD)
- 23.36
- Number of reference allele (HGVD)
- 2037
- Number of alternative allele (HGVD)
- 343
- Allele Frequency (HGVD)
- 0.14411764705882352
- Gene Symbol (HGVD)
- ERBB2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1136201
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1341
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2248
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 1088
- East Asian Heterozygous Counts (ExAC)
- 948
- East Asian Homozygous Counts (ExAC)
- 70
- East Asian Allele Frequency (ExAC)
- 0.12583853805227851
- Chromosome Counts in All Race (ExAC)
- 121340
- Allele Counts in All Race (ExAC)
- 23826
- Heterozygous Counts in All Race (ExAC)
- 18358
- Homozygous Counts in All Race (ExAC)
- 2734
- Allele Frequency in All Race (ExAC)
- 0.1963573430031317
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