chr1:156815128:C>T Detail (hg38) (SH2D2A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,784,920-156,784,920 View the variant detail on this assembly version. |
hg38 | chr1:156,815,128-156,815,128 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001161442.1:c.163G>A | NP_001154914.1:p.Glu55Lys |
NM_001161443.1:c.163G>A | NP_001154915.1:p.Glu55Lys | |
NM_001161444.1:c.217G>A | NP_001154916.1:p.Glu73Lys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19424605 | Detail |
<0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19424605 | Detail |
<0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19424605 | Detail |
0.002 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19424605 | Detail |
0.002 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19424605 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... | DisGeNET | Detail |
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... | DisGeNET | Detail |
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... | DisGeNET | Detail |
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... | DisGeNET | Detail |
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... | 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
- -
- Genome
- hg38
- Position
- chr1:156,815,128-156,815,128
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1168
- Mean of sample read depth (HGVD)
- 31.43
- Standard deviation of sample read depth (HGVD)
- 13.23
- Number of reference allele (HGVD)
- 2335
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.280821917808219E-4
- Gene Symbol (HGVD)
- SH2D2A
- East Asian Chromosome Counts (ExAC)
- 7760
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 103518
- Allele Counts in All Race (ExAC)
- 13
- Heterozygous Counts in All Race (ExAC)
- 13
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.2558202438223305E-4
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