rs1085307443

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Chromosome

15

Position

40003201

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs1085307443
dbSNP (classic)	rs1085307443
ClinGen	rs1085307443
ebi	rs1085307443
HLI	rs1085307443
Exac	rs1085307443
Gnomad	rs1085307443
Varsome	rs1085307443
LitVar	rs1085307443
Map	rs1085307443
PheGenI	rs1085307443
Biobank	rs1085307443
1000 genomes	rs1085307443
hgdp	rs1085307443
ensembl	rs1085307443
geneview	rs1085307443
scholar	rs1085307443
google	rs1085307443
pharmgkb	rs1085307443
gwascentral	rs1085307443
openSNP	rs1085307443
23andMe	rs1085307443
SNPshot	rs1085307443
SNPdbe	rs1085307443
MSV3d	rs1085307443
GWAS Ctlg	rs1085307443

Max Magnitude

0

ClinVar
Risk	rs1085307443(T;T)
Alt	rs1085307443(T;T)
Reference	Rs1085307443(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.40295402C>T
CLNSRC
CLNACC	RCV000488475.1,