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rs121908570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908570(G;T)
Make rs121908570(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position88590826
GeneEIF2AK3
is asnp
is mentioned by
dbSNPrs121908570
ebirs121908570
HLIrs121908570
Exacrs121908570
Varsomers121908570
Maprs121908570
PheGenIrs121908570
hapmaprs121908570
1000 genomesrs121908570
hgdprs121908570
ensemblrs121908570
gopubmedrs121908570
geneviewrs121908570
scholarrs121908570
googlers121908570
pharmgkbrs121908570
gwascentralrs121908570
openSNPrs121908570
23andMers121908570
23andMe allrs121908570
SNP Nexus

SNPshotrs121908570
SNPdbers121908570
MSV3drs121908570
GWAS Ctlgrs121908570
Max Magnitude0
OMIM604032
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908570(C,T;C,T)
Alt rs121908570(C,T;C,T)
Reference rs121908570(G;G)
Significance Pathogenic
Disease Wolcott-Rallison dysplasia
Variation info
Gene EIF2AK3
CLNDBN Wolcott-Rallison dysplasia
Reversed 1
HGVS NC_000002.11:g.88890344C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006236.2,