rs776140816

Orientation

plus

Stabilized

plus

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

Make rs776140816(C;C)

Make rs776140816(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

40017243

Gene

EIF2AK4

is a	snp
is	mentioned by
dbSNP	rs776140816
dbSNP (classic)	rs776140816
ClinGen	rs776140816
ebi	rs776140816
HLI	rs776140816
Exac	rs776140816
Gnomad	rs776140816
Varsome	rs776140816
LitVar	rs776140816
Map	rs776140816
PheGenI	rs776140816
Biobank	rs776140816
1000 genomes	rs776140816
hgdp	rs776140816
ensembl	rs776140816
geneview	rs776140816
scholar	rs776140816
google	rs776140816
pharmgkb	rs776140816
gwascentral	rs776140816
openSNP	rs776140816
23andMe	rs776140816
SNPshot	rs776140816
SNPdbe	rs776140816
MSV3d	rs776140816
GWAS Ctlg	rs776140816

Max Magnitude

0

ClinVar
Risk	rs776140816(A;A) rs776140816(C;C)
Alt	rs776140816(A;A) rs776140816(C;C)
Reference	Rs776140816(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.40309444G>C
CLNSRC
CLNACC	RCV000488628.1,