rs121909286

Orientation

plus

Stabilized

plus

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

Make rs121909286(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51916180

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs121909286
dbSNP (classic)	rs121909286
ClinGen	rs121909286
ebi	rs121909286
HLI	rs121909286
Exac	rs121909286
Gnomad	rs121909286
Varsome	rs121909286
LitVar	rs121909286
Map	rs121909286
PheGenI	rs121909286
Biobank	rs121909286
1000 genomes	rs121909286
hgdp	rs121909286
ensembl	rs121909286
geneview	rs121909286
scholar	rs121909286
google	rs121909286
pharmgkb	rs121909286
gwascentral	rs121909286
openSNP	rs121909286
23andMe	rs121909286
SNPshot	rs121909286
SNPdbe	rs121909286
MSV3d	rs121909286
GWAS Ctlg	rs121909286

Merged from

Rs28936400

Max Magnitude

4.3

OMIM	601284
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909286(A;A)
Alt	rs121909286(A;A)
Reference	Rs121909286(T;T)
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.52309964T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008732.3,