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rs587777106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 Pulmonary venoocclusive disease
(A;G) 3 Carrier of a pulmonary hypertension mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome15
Position39973685
GeneEIF2AK4
is asnp
is mentioned by
dbSNPrs587777106
ebirs587777106
HLIrs587777106
Exacrs587777106
Varsomers587777106
Maprs587777106
PheGenIrs587777106
hapmaprs587777106
1000 genomesrs587777106
hgdprs587777106
ensemblrs587777106
gopubmedrs587777106
geneviewrs587777106
scholarrs587777106
googlers587777106
pharmgkbrs587777106
gwascentralrs587777106
openSNPrs587777106
23andMers587777106
23andMe allrs587777106
SNP Nexus

SNPshotrs587777106
SNPdbers587777106
MSV3drs587777106
GWAS Ctlgrs587777106
Max Magnitude7

Also known as c.1754G>A (p.Arg585Gln), this rare mutation in the EIF2AK4 gene is reported in ClinVar as leading to - when inherited recessively - rare forms of pulmonary hypertension, specifically, pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD).[PMID 24135949OA-icon.png]

ClinVar
Risk rs587777106(A;A)
Alt rs587777106(A;A)
Reference rs587777106(G;G)
Significance Pathogenic
Disease Familial pulmonary capillary hemangiomatosis
Variation info
Gene EIF2AK4
CLNDBN Familial pulmonary capillary hemangiomatosis
Reversed 0
HGVS NC_000015.9:g.40265886G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083310.4,