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rs376877634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376877634(C;T)
Make rs376877634(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position39972904
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs376877634
dbSNP (classic)rs376877634
ClinGenrs376877634
ebirs376877634
HLIrs376877634
Exacrs376877634
Gnomadrs376877634
Varsomers376877634
LitVarrs376877634
Maprs376877634
PheGenIrs376877634
Biobankrs376877634
1000 genomesrs376877634
hgdprs376877634
ensemblrs376877634
geneviewrs376877634
scholarrs376877634
googlers376877634
pharmgkbrs376877634
gwascentralrs376877634
openSNPrs376877634
23andMers376877634
SNPshotrs376877634
SNPdbers376877634
MSV3drs376877634
GWAS Ctlgrs376877634
Max Magnitude0
ClinVar
Risk rs376877634(A;A) rs376877634(T;T)
Alt rs376877634(A;A) rs376877634(T;T)
Reference Rs376877634(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.40265105C>A
CLNSRC
CLNACC RCV000488704.1,