rs1060503240

Orientation

plus

Stabilized

plus

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

Make rs1060503240(-;-)

Make rs1060503240(-;TG)

Make rs1060503240(TG;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51914071

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503240
dbSNP (classic)	rs1060503240
ClinGen	rs1060503240
ebi	rs1060503240
HLI	rs1060503240
Exac	rs1060503240
Gnomad	rs1060503240
Varsome	rs1060503240
LitVar	rs1060503240
Map	rs1060503240
PheGenI	rs1060503240
Biobank	rs1060503240
1000 genomes	rs1060503240
hgdp	rs1060503240
ensembl	rs1060503240
geneview	rs1060503240
scholar	rs1060503240
google	rs1060503240
pharmgkb	rs1060503240
gwascentral	rs1060503240
openSNP	rs1060503240
23andMe	rs1060503240
SNPshot	rs1060503240
SNPdbe	rs1060503240
MSV3d	rs1060503240
GWAS Ctlg	rs1060503240

Max Magnitude

0

ClinVar
Risk	rs1060503240(-;-)
Alt	rs1060503240(-;-)
Reference	Rs1060503240(GT;GT)
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.52307855_52307856delTG
CLNSRC
CLNACC	RCV000470739.1,