rs1060503249

Orientation

plus

Stabilized

plus

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

Make rs1060503249(-;-)

Make rs1060503249(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51913771

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs1060503249
dbSNP (classic)	rs1060503249
ClinGen	rs1060503249
ebi	rs1060503249
HLI	rs1060503249
Exac	rs1060503249
Gnomad	rs1060503249
Varsome	rs1060503249
LitVar	rs1060503249
Map	rs1060503249
PheGenI	rs1060503249
Biobank	rs1060503249
1000 genomes	rs1060503249
hgdp	rs1060503249
ensembl	rs1060503249
geneview	rs1060503249
scholar	rs1060503249
google	rs1060503249
pharmgkb	rs1060503249
gwascentral	rs1060503249
openSNP	rs1060503249
23andMe	rs1060503249
SNPshot	rs1060503249
SNPdbe	rs1060503249
MSV3d	rs1060503249
GWAS Ctlg	rs1060503249

Max Magnitude

0

ClinVar
Risk	rs1060503249(-;-)
Alt	rs1060503249(-;-)
Reference	Rs1060503249(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.52307555delG
CLNSRC
CLNACC	RCV000476471.1,