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rs202140402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202140402(C;T)
Make rs202140402(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position39961785
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs202140402
dbSNP (classic)rs202140402
ClinGenrs202140402
ebirs202140402
HLIrs202140402
Exacrs202140402
Gnomadrs202140402
Varsomers202140402
LitVarrs202140402
Maprs202140402
PheGenIrs202140402
Biobankrs202140402
1000 genomesrs202140402
hgdprs202140402
ensemblrs202140402
geneviewrs202140402
scholarrs202140402
googlers202140402
pharmgkbrs202140402
gwascentralrs202140402
openSNPrs202140402
23andMers202140402
SNPshotrs202140402
SNPdbers202140402
MSV3drs202140402
GWAS Ctlgrs202140402
Max Magnitude0
ClinVar
Risk rs202140402(T;T)
Alt rs202140402(T;T)
Reference Rs202140402(C;C)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40253986C>T
CLNSRC
CLNACC RCV000488705.1,