Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315205(A;A)
Make rs74315205(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6302385
GeneWFS1
is asnp
is mentioned by
dbSNPrs74315205
ebirs74315205
HLIrs74315205
Exacrs74315205
Varsomers74315205
Maprs74315205
PheGenIrs74315205
hapmaprs74315205
1000 genomesrs74315205
hgdprs74315205
ensemblrs74315205
gopubmedrs74315205
geneviewrs74315205
scholarrs74315205
googlers74315205
pharmgkbrs74315205
gwascentralrs74315205
openSNPrs74315205
23andMers74315205
23andMe allrs74315205
SNP Nexus

SNPshotrs74315205
SNPdbers74315205
MSV3drs74315205
GWAS Ctlgrs74315205
Max Magnitude0
OMIM606201
DescWFS1 GENE; WFS1
Variant
Relatedalso
OMIM606201
Desc
Variant0020
Relatedalso
ClinVar
Risk rs74315205(A;A)
Alt rs74315205(A;A)
Reference rs74315205(G;G)
Significance Pathogenic
Disease Wolfram-like syndrome WFS1-Related Disorders DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss
Variation info
Gene WFS1
CLNDBN Wolfram-like syndrome, autosomal dominant WFS1-Related Disorders DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss
Reversed 0
HGVS NC_000004.11:g.6304112G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004784.3, RCV000020637.4, RCV000225037.1,


[PMID 16648378OA-icon.png] Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.