rs1060503237

Orientation

plus

Stabilized

plus

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

Make rs1060503237(A;A)

Make rs1060503237(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51920758

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503237
dbSNP (classic)	rs1060503237
ClinGen	rs1060503237
ebi	rs1060503237
HLI	rs1060503237
Exac	rs1060503237
Gnomad	rs1060503237
Varsome	rs1060503237
LitVar	rs1060503237
Map	rs1060503237
PheGenI	rs1060503237
Biobank	rs1060503237
1000 genomes	rs1060503237
hgdp	rs1060503237
ensembl	rs1060503237
geneview	rs1060503237
scholar	rs1060503237
google	rs1060503237
pharmgkb	rs1060503237
gwascentral	rs1060503237
openSNP	rs1060503237
23andMe	rs1060503237
SNPshot	rs1060503237
SNPdbe	rs1060503237
MSV3d	rs1060503237
GWAS Ctlg	rs1060503237

Max Magnitude

0

ClinVar
Risk	rs1060503237(A;A)
Alt	rs1060503237(A;A)
Reference	Rs1060503237(G;G)
Significance	Probable-Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2
Reversed	0
HGVS	NC_000012.11:g.52314542G>A
CLNSRC
CLNACC	RCV000471693.1,