rs1060503248

Orientation

plus

Stabilized

plus

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

Make rs1060503248(A;A)

Make rs1060503248(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51916108

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503248
dbSNP (classic)	rs1060503248
ClinGen	rs1060503248
ebi	rs1060503248
HLI	rs1060503248
Exac	rs1060503248
Gnomad	rs1060503248
Varsome	rs1060503248
LitVar	rs1060503248
Map	rs1060503248
PheGenI	rs1060503248
Biobank	rs1060503248
1000 genomes	rs1060503248
hgdp	rs1060503248
ensembl	rs1060503248
geneview	rs1060503248
scholar	rs1060503248
google	rs1060503248
pharmgkb	rs1060503248
gwascentral	rs1060503248
openSNP	rs1060503248
23andMe	rs1060503248
SNPshot	rs1060503248
SNPdbe	rs1060503248
MSV3d	rs1060503248
GWAS Ctlg	rs1060503248

Max Magnitude

0

ClinVar
Risk	rs1060503248(A;A)
Alt	rs1060503248(A;A)
Reference	Rs1060503248(G;G)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed	0
HGVS	NC_000012.11:g.52309892G>A
CLNSRC
CLNACC	RCV000467491.1, RCV000488746.1,