rs1085307444

Orientation

plus

Stabilized

plus

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

Chromosome

15

Position

40020930

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs1085307444
dbSNP (classic)	rs1085307444
ClinGen	rs1085307444
ebi	rs1085307444
HLI	rs1085307444
Exac	rs1085307444
Gnomad	rs1085307444
Varsome	rs1085307444
LitVar	rs1085307444
Map	rs1085307444
PheGenI	rs1085307444
Biobank	rs1085307444
1000 genomes	rs1085307444
hgdp	rs1085307444
ensembl	rs1085307444
geneview	rs1085307444
scholar	rs1085307444
google	rs1085307444
pharmgkb	rs1085307444
gwascentral	rs1085307444
openSNP	rs1085307444
23andMe	rs1085307444
SNPshot	rs1085307444
SNPdbe	rs1085307444
MSV3d	rs1085307444
GWAS Ctlg	rs1085307444

Max Magnitude

0

ClinVar
Risk	rs1085307444(T;T)
Alt	rs1085307444(T;T)
Reference	Rs1085307444(-;-)
Significance	Pathogenic
Disease	Familial pulmonary capillary hemangiomatosis
Variation	info
Gene	EIF2AK4
CLNDBN	Familial pulmonary capillary hemangiomatosis
Reversed	0
HGVS	NC_000015.9:g.40313131dup
CLNSRC
CLNACC	RCV000488784.1,