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rs1801212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801212(A;A)
Make rs1801212(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position6300792
GeneWFS1
is asnp
is mentioned by
dbSNPrs1801212
ebirs1801212
HLIrs1801212
Exacrs1801212
Varsomers1801212
Maprs1801212
PheGenIrs1801212
hapmaprs1801212
1000 genomesrs1801212
hgdprs1801212
ensemblrs1801212
gopubmedrs1801212
geneviewrs1801212
scholarrs1801212
googlers1801212
pharmgkbrs1801212
gwascentralrs1801212
openSNPrs1801212
23andMers1801212
23andMe allrs1801212
SNP Nexus

SNPshotrs1801212
SNPdbers1801212
MSV3drs1801212
GWAS Ctlgrs1801212
GMAF0.1364
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene WFS1
allele A
frequency 0.808
sift TOLERATED
HuRef 1103654325525
Disease Association Defects in WFS1 are the cause of Wolfram syndrome (WFS) (MIM:222300); also known as diabetes insipidus and mellitus with optic atrophy and deafness syndrome (DIDMOAD). It is a rare autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy, deafness and various neurological symptoms.



Neighborrs28937892
Distance514


GET Evidence
WFS1-V333I
aa_change Val333Ile
aa_change_short V333I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.800056
summary



ClinVar
Risk rs1801212(A;A)
Alt rs1801212(A;A)
Reference rs1801212(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene WFS1
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.6302519G>A; NC_000004.11:g.6302519G>T
CLNSRC HGMD
CLNACC RCV000038668.7, RCV000155337.1,