rs1060503246

Orientation

plus

Stabilized

plus

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

Make rs1060503246(-;-)

Make rs1060503246(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51913220

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503246
dbSNP (classic)	rs1060503246
ClinGen	rs1060503246
ebi	rs1060503246
HLI	rs1060503246
Exac	rs1060503246
Gnomad	rs1060503246
Varsome	rs1060503246
LitVar	rs1060503246
Map	rs1060503246
PheGenI	rs1060503246
Biobank	rs1060503246
1000 genomes	rs1060503246
hgdp	rs1060503246
ensembl	rs1060503246
geneview	rs1060503246
scholar	rs1060503246
google	rs1060503246
pharmgkb	rs1060503246
gwascentral	rs1060503246
openSNP	rs1060503246
23andMe	rs1060503246
SNPshot	rs1060503246
SNPdbe	rs1060503246
MSV3d	rs1060503246
GWAS Ctlg	rs1060503246

Max Magnitude

0

ClinVar
Risk	rs1060503246(-;-)
Alt	rs1060503246(-;-)
Reference	Rs1060503246(G;G)
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.52307004delG
CLNSRC
CLNACC	RCV000466064.1,