rs74315205

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs74315205(A;A)

Make rs74315205(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

6302385

Gene	LOC107986257, WFS1

is a	snp
is	mentioned by
dbSNP	rs74315205
dbSNP (classic)	rs74315205
ClinGen	rs74315205
ebi	rs74315205
HLI	rs74315205
Exac	rs74315205
Gnomad	rs74315205
Varsome	rs74315205
LitVar	rs74315205
Map	rs74315205
PheGenI	rs74315205
Biobank	rs74315205
1000 genomes	rs74315205
hgdp	rs74315205
ensembl	rs74315205
geneview	rs74315205
scholar	rs74315205
google	rs74315205
pharmgkb	rs74315205
gwascentral	rs74315205
openSNP	rs74315205
23andMe	rs74315205
SNPshot	rs74315205
SNPdbe	rs74315205
MSV3d	rs74315205
GWAS Ctlg	rs74315205

Max Magnitude

0

OMIM	606201
Desc	WFS1 GENE; WFS1
Variant
Related	also

OMIM	606201
Desc
Variant	0020
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004784.3, RCV000020637.4, RCV000225037.1,

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