rs1085307254

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.2	Pulmonary arterial hypertension
(C;G)	6.2	Pulmonary arterial hypertension
(G;G)	0	common in clinvar
(G;T)	6.2	Pulmonary arterial hypertension

Chromosome

2

Position

202518927

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs1085307254
dbSNP (classic)	rs1085307254
ClinGen	rs1085307254
ebi	rs1085307254
HLI	rs1085307254
Exac	rs1085307254
Gnomad	rs1085307254
Varsome	rs1085307254
LitVar	rs1085307254
Map	rs1085307254
PheGenI	rs1085307254
Biobank	rs1085307254
1000 genomes	rs1085307254
hgdp	rs1085307254
ensembl	rs1085307254
geneview	rs1085307254
scholar	rs1085307254
google	rs1085307254
pharmgkb	rs1085307254
gwascentral	rs1085307254
openSNP	rs1085307254
23andMe	rs1085307254
23andMe all	rs1085307254
SNPshot	rs1085307254
SNPdbe	rs1085307254
MSV3d	rs1085307254
GWAS Ctlg	rs1085307254

Max Magnitude

6.2

ClinVar
Risk	rs1085307254(T;T)
Alt	rs1085307254(T;T)
Reference	Rs1085307254(G;G)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203383650G>A; NC_000002.11:g.203383650G>C; NC_000002.11:g.203383650G>T
CLNSRC
CLNACC	RCV000488589.1, RCV000488725.1, RCV000488845.1,