rs397514496

Orientation

plus

Stabilized

plus

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

Make rs397514496(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202514962

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs397514496
dbSNP (classic)	rs397514496
ClinGen	rs397514496
ebi	rs397514496
HLI	rs397514496
Exac	rs397514496
Gnomad	rs397514496
Varsome	rs397514496
LitVar	rs397514496
Map	rs397514496
PheGenI	rs397514496
Biobank	rs397514496
1000 genomes	rs397514496
hgdp	rs397514496
ensembl	rs397514496
geneview	rs397514496
scholar	rs397514496
google	rs397514496
pharmgkb	rs397514496
gwascentral	rs397514496
openSNP	rs397514496
23andMe	rs397514496
SNPshot	rs397514496
SNPdbe	rs397514496
MSV3d	rs397514496
GWAS Ctlg	rs397514496

Max Magnitude

6.2

ClinVar
Risk	rs397514496(T;T)
Alt	rs397514496(T;T)
Reference	Rs397514496(A;A)
Significance	Pathogenic
Disease	Pulmonary venoocclusive disease 1
Variation	info
Gene	BMPR2
CLNDBN	Pulmonary venoocclusive disease 1
Reversed	0
HGVS	NC_000002.11:g.203379685A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032617.4,