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rs864621972

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864621972(C;T)
Make rs864621972(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position88588875
GeneEIF2AK3
is asnp
is mentioned by
dbSNPrs864621972
ebirs864621972
HLIrs864621972
Exacrs864621972
Varsomers864621972
Maprs864621972
PheGenIrs864621972
hapmaprs864621972
1000 genomesrs864621972
hgdprs864621972
ensemblrs864621972
gopubmedrs864621972
geneviewrs864621972
scholarrs864621972
googlers864621972
pharmgkbrs864621972
gwascentralrs864621972
openSNPrs864621972
23andMers864621972
23andMe allrs864621972
SNP Nexus

SNPshotrs864621972
SNPdbers864621972
MSV3drs864621972
GWAS Ctlgrs864621972
Max Magnitude0
ClinVar
Risk rs864621972(T;T)
Alt rs864621972(T;T)
Reference rs864621972(C;C)
Significance Pathogenic
Disease Wolcott-Rallison dysplasia
Variation info
Gene EIF2AK3
CLNDBN Wolcott-Rallison dysplasia
Reversed 1
HGVS NC_000002.11:g.88888393G>A
CLNSRC
CLNACC RCV000204196.1,