rs587777106

plus

Geno	Mag	Summary
(A;A)	7	Pulmonary venoocclusive disease
(A;G)	3	Carrier of a pulmonary hypertension mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

15

Position

39973685

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs587777106
dbSNP (classic)	rs587777106
ClinGen	rs587777106
ebi	rs587777106
HLI	rs587777106
Exac	rs587777106
Gnomad	rs587777106
Varsome	rs587777106
LitVar	rs587777106
Map	rs587777106
PheGenI	rs587777106
Biobank	rs587777106
1000 genomes	rs587777106
hgdp	rs587777106
ensembl	rs587777106
geneview	rs587777106
scholar	rs587777106
google	rs587777106
pharmgkb	rs587777106
gwascentral	rs587777106
openSNP	rs587777106
23andMe	rs587777106
SNPshot	rs587777106
SNPdbe	rs587777106
MSV3d	rs587777106
GWAS Ctlg	rs587777106

Max Magnitude

7

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 24135949 ]

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 UniProtKB (protein)
CLNACC	RCV000083310.5,