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rs869025178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869025178(-;T)
Make rs869025178(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position88590572
GeneEIF2AK3
is asnp
is mentioned by
dbSNPrs869025178
dbSNP (classic)rs869025178
ClinGenrs869025178
ebirs869025178
HLIrs869025178
Exacrs869025178
Gnomadrs869025178
Varsomers869025178
LitVarrs869025178
Maprs869025178
PheGenIrs869025178
Biobankrs869025178
1000 genomesrs869025178
hgdprs869025178
ensemblrs869025178
geneviewrs869025178
scholarrs869025178
googlers869025178
pharmgkbrs869025178
gwascentralrs869025178
openSNPrs869025178
23andMers869025178
SNPshotrs869025178
SNPdbers869025178
MSV3drs869025178
GWAS Ctlgrs869025178
Max Magnitude0
ClinVar
Risk rs869025178(T;T)
Alt rs869025178(T;T)
Reference Rs869025178(-;-)
Significance Pathogenic
Disease Wolcott-Rallison dysplasia
Variation info
Gene EIF2AK3
CLNDBN Wolcott-Rallison dysplasia
Reversed 1
HGVS NC_000002.11:g.88890091dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006232.2,