rs1060502583

Orientation

plus

Stabilized

plus

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

Make rs1060502583(A;C)

Make rs1060502583(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

202552811

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs1060502583
dbSNP (classic)	rs1060502583
ClinGen	rs1060502583
ebi	rs1060502583
HLI	rs1060502583
Exac	rs1060502583
Gnomad	rs1060502583
Varsome	rs1060502583
LitVar	rs1060502583
Map	rs1060502583
PheGenI	rs1060502583
Biobank	rs1060502583
1000 genomes	rs1060502583
hgdp	rs1060502583
ensembl	rs1060502583
geneview	rs1060502583
scholar	rs1060502583
google	rs1060502583
pharmgkb	rs1060502583
gwascentral	rs1060502583
openSNP	rs1060502583
23andMe	rs1060502583
SNPshot	rs1060502583
SNPdbe	rs1060502583
MSV3d	rs1060502583
GWAS Ctlg	rs1060502583

Max Magnitude

0

ClinVar
Risk	rs1060502583(C;C)
Alt	rs1060502583(C;C)
Reference	Rs1060502583(A;A)
Significance	Pathogenic
Disease	Primary pulmonary hypertension Pulmonary arterial hypertension associated with congenital heart disease
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension Pulmonary arterial hypertension associated with congenital heart disease
Reversed	0
HGVS	NC_000002.11:g.203417534A>C
CLNSRC
CLNACC	RCV000473484.1, RCV000488481.1,