rs141764916

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4.3	Hereditary hemorrhagic telangiectasia
(G;G)	0	common in clinvar

Make rs141764916(A;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

51916144

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs141764916
dbSNP (classic)	rs141764916
ClinGen	rs141764916
ebi	rs141764916
HLI	rs141764916
Exac	rs141764916
Gnomad	rs141764916
Varsome	rs141764916
LitVar	rs141764916
Map	rs141764916
PheGenI	rs141764916
Biobank	rs141764916
1000 genomes	rs141764916
hgdp	rs141764916
ensembl	rs141764916
geneview	rs141764916
scholar	rs141764916
google	rs141764916
pharmgkb	rs141764916
gwascentral	rs141764916
openSNP	rs141764916
23andMe	rs141764916
SNPshot	rs141764916
SNPdbe	rs141764916
MSV3d	rs141764916
GWAS Ctlg	rs141764916

Max Magnitude

4.3

ClinVar
Risk	rs141764916(A;A)
Alt	rs141764916(A;A)
Reference	Rs141764916(G;G)
Significance	Probable-Pathogenic
Disease	Haemorrhagic telangiectasia 2
Variation	info
Gene	ACVRL1
CLNDBN	Haemorrhagic telangiectasia 2
Reversed	0
HGVS	NC_000012.11:g.52309928G>A
CLNSRC	ClinVar University of Washington
CLNACC	RCV000148356.1,