chr1:156815128:C>A 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>T NP_001154914.1:p.Glu55Ter
NM_001161443.1:c.163G>T NP_001154915.1:p.Glu55Ter
NM_001161444.1:c.217G>T NP_001154916.1:p.Glu73Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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
Links
Type Database ID Link
Gene MIM 604514 OMIM
HGNC 10821 HGNC
Ensembl ENSG00000027869 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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
A
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)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.660155721710235E-6
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