rs1060503245

Orientation

plus

Stabilized

plus

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

Make rs1060503245(-;-)

Make rs1060503245(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51915341

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503245
dbSNP (classic)	rs1060503245
ClinGen	rs1060503245
ebi	rs1060503245
HLI	rs1060503245
Exac	rs1060503245
Gnomad	rs1060503245
Varsome	rs1060503245
LitVar	rs1060503245
Map	rs1060503245
PheGenI	rs1060503245
Biobank	rs1060503245
1000 genomes	rs1060503245
hgdp	rs1060503245
ensembl	rs1060503245
geneview	rs1060503245
scholar	rs1060503245
google	rs1060503245
pharmgkb	rs1060503245
gwascentral	rs1060503245
openSNP	rs1060503245
23andMe	rs1060503245
SNPshot	rs1060503245
SNPdbe	rs1060503245
MSV3d	rs1060503245
GWAS Ctlg	rs1060503245

Max Magnitude

0

ClinVar
Risk	rs1060503245(-;-)
Alt	rs1060503245(-;-)
Reference	Rs1060503245(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.52309125delC
CLNSRC
CLNACC	RCV000459062.1,