rs137852743

Orientation

plus

Stabilized

plus

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

Make rs137852743(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202467625

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852743
dbSNP (classic)	rs137852743
ClinGen	rs137852743
ebi	rs137852743
HLI	rs137852743
Exac	rs137852743
Gnomad	rs137852743
Varsome	rs137852743
LitVar	rs137852743
Map	rs137852743
PheGenI	rs137852743
Biobank	rs137852743
1000 genomes	rs137852743
hgdp	rs137852743
ensembl	rs137852743
geneview	rs137852743
scholar	rs137852743
google	rs137852743
pharmgkb	rs137852743
gwascentral	rs137852743
openSNP	rs137852743
23andMe	rs137852743
SNPshot	rs137852743
SNPdbe	rs137852743
MSV3d	rs137852743
GWAS Ctlg	rs137852743

Max Magnitude

6.2

aka c.354T>G (p.Cys118Trp)

23andMe name: i5005629

OMIM	600799
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852743(G;G)
Alt	rs137852743(G;G)
Reference	Rs137852743(T;T)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203332348T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009344.3,