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rs869025179

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025179(A;A)
Make rs869025179(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position88570873
GeneEIF2AK3, LOC101928371
is asnp
is mentioned by
dbSNPrs869025179
dbSNP (classic)rs869025179
ClinGenrs869025179
ebirs869025179
HLIrs869025179
Exacrs869025179
Gnomadrs869025179
Varsomers869025179
LitVarrs869025179
Maprs869025179
PheGenIrs869025179
Biobankrs869025179
1000 genomesrs869025179
hgdprs869025179
ensemblrs869025179
geneviewrs869025179
scholarrs869025179
googlers869025179
pharmgkbrs869025179
gwascentralrs869025179
openSNPrs869025179
23andMers869025179
SNPshotrs869025179
SNPdbers869025179
MSV3drs869025179
GWAS Ctlgrs869025179
Max Magnitude0
ClinVar
Risk rs869025179(A;A)
Alt rs869025179(A;A)
Reference Rs869025179(G;G)
Significance Pathogenic
Disease Wolcott-Rallison dysplasia
Variation info
Gene LOC101928371 EIF2AK3
CLNDBN Wolcott-Rallison dysplasia
Reversed 1
HGVS NC_000002.11:g.88870391C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006234.2,