chr17:40481529:G>C Detail (hg19) (STAT3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:40,481,529-40,481,529 |
hg38 | chr17:42,329,511-42,329,511 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003150.3:c.1233+43C>G | |
NM_139276.2:c.1233+43C>G | ||
NM_213662.1:c.1233+43C>G |
Summary
MGeND
Clinical significance |
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Variant entry | 4,909 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.637 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.519 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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cervical part of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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abdominal part of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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upper third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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middle third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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lower third of oesophagus |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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oesophagus, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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fundus of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of stomach |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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pyloric antrum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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stomach, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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duodenum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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jejunum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ileum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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small intestine, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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caecum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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appendix |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ascending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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transverse colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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descending colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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sigmoid colon |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectosigmoid junction |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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anal canal |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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liver cell carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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intrahepatic bile duct carcinoma |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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malignant neoplasm of gallbladder |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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extrahepatic bile duct |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ampulla of vater |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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body of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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tail of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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ill-defined sites within the digestive system |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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retroperitoneum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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other |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-03-03 | criteria provided, single submitter | not provided |
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Detail |
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2021-07-15 | criteria provided, single submitter | Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
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Detail |
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2021-07-15 | criteria provided, single submitter | STAT3-related early-onset multisystem autoimmune disease |
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Detail |
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2023-11-12 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.128 | multiple sclerosis | Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loc... | GWASCAT | 22190364 | Detail |
0.128 | multiple sclerosis | [We have performed a meta-analysis of GWAS in MS that more than doubles the size... | GAD | 22190364 | Detail |
<0.001 | thyroiditis | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... | BeFree | 24081513 | Detail |
<0.001 | Graves Disease | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... | BeFree | 24081513 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_139276.3(STAT3):c.1233+43C>G AND not provided | ClinVar | Detail |
NM_139276.3(STAT3):c.1233+43C>G AND Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar | Detail |
NM_139276.3(STAT3):c.1233+43C>G AND STAT3-related early-onset multisystem autoimmune disease | ClinVar | Detail |
NM_139276.3(STAT3):c.1233+43C>G AND not specified | ClinVar | Detail |
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. | DisGeNET | Detail |
[We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene di... | DisGeNET | Detail |
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... | DisGeNET | Detail |
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... | 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
- rs2293152 dbSNP
- Genome
- hg19
- Position
- chr17:40,481,529-40,481,529
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs2293152
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6368
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10672
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 4487
- East Asian Heterozygous Counts (ExAC)
- 2243
- East Asian Homozygous Counts (ExAC)
- 1121
- East Asian Allele Frequency (ExAC)
- 0.518968309044645
- Chromosome Counts in All Race (ExAC)
- 121380
- Allele Counts in All Race (ExAC)
- 73132
- Heterozygous Counts in All Race (ExAC)
- 27958
- Homozygous Counts in All Race (ExAC)
- 22585
- Allele Frequency in All Race (ExAC)
- 0.6025045312242544
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