rs1060503242

Orientation

plus

Stabilized

plus

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

Make rs1060503242(A;A)

Make rs1060503242(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51916035

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503242
dbSNP (classic)	rs1060503242
ClinGen	rs1060503242
ebi	rs1060503242
HLI	rs1060503242
Exac	rs1060503242
Gnomad	rs1060503242
Varsome	rs1060503242
LitVar	rs1060503242
Map	rs1060503242
PheGenI	rs1060503242
Biobank	rs1060503242
1000 genomes	rs1060503242
hgdp	rs1060503242
ensembl	rs1060503242
geneview	rs1060503242
scholar	rs1060503242
google	rs1060503242
pharmgkb	rs1060503242
gwascentral	rs1060503242
openSNP	rs1060503242
23andMe	rs1060503242
SNPshot	rs1060503242
SNPdbe	rs1060503242
MSV3d	rs1060503242
GWAS Ctlg	rs1060503242

Max Magnitude

0

ClinVar
Risk	rs1060503242(A;A)
Alt	rs1060503242(A;A)
Reference	Rs1060503242(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.52309819G>A
CLNSRC
CLNACC	RCV000457633.1,