rs1060503241

Orientation

plus

Stabilized

plus

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

Make rs1060503241(-;-)

Make rs1060503241(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51913227

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503241
dbSNP (classic)	rs1060503241
ClinGen	rs1060503241
ebi	rs1060503241
HLI	rs1060503241
Exac	rs1060503241
Gnomad	rs1060503241
Varsome	rs1060503241
LitVar	rs1060503241
Map	rs1060503241
PheGenI	rs1060503241
Biobank	rs1060503241
1000 genomes	rs1060503241
hgdp	rs1060503241
ensembl	rs1060503241
geneview	rs1060503241
scholar	rs1060503241
google	rs1060503241
pharmgkb	rs1060503241
gwascentral	rs1060503241
openSNP	rs1060503241
23andMe	rs1060503241
SNPshot	rs1060503241
SNPdbe	rs1060503241
MSV3d	rs1060503241
GWAS Ctlg	rs1060503241

Max Magnitude

0

ClinVar
Risk	rs1060503241(-;-)
Alt	rs1060503241(-;-)
Reference	Rs1060503241(C;C)
Significance	Pathogenic
Disease	Hereditary hemorrhagic telangiectasia type 2
Variation	info
Gene	ACVRL1
CLNDBN	Hereditary hemorrhagic telangiectasia type 2
Reversed	0
HGVS	NC_000012.11:g.52307011delC
CLNSRC
CLNACC	RCV000458567.1,