rs202140402

Orientation

plus

Stabilized

plus

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

Make rs202140402(C;T)

Make rs202140402(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

39961785

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs202140402
dbSNP (classic)	rs202140402
ClinGen	rs202140402
ebi	rs202140402
HLI	rs202140402
Exac	rs202140402
Gnomad	rs202140402
Varsome	rs202140402
LitVar	rs202140402
Map	rs202140402
PheGenI	rs202140402
Biobank	rs202140402
1000 genomes	rs202140402
hgdp	rs202140402
ensembl	rs202140402
geneview	rs202140402
scholar	rs202140402
google	rs202140402
pharmgkb	rs202140402
gwascentral	rs202140402
openSNP	rs202140402
23andMe	rs202140402
SNPshot	rs202140402
SNPdbe	rs202140402
MSV3d	rs202140402
GWAS Ctlg	rs202140402

Max Magnitude

0

ClinVar
Risk	rs202140402(T;T)
Alt	rs202140402(T;T)
Reference	Rs202140402(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.40253986C>T
CLNSRC
CLNACC	RCV000488705.1,