rs121909285

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4

Make rs121909285(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

51913187

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs121909285
dbSNP (classic)	rs121909285
ClinGen	rs121909285
ebi	rs121909285
HLI	rs121909285
Exac	rs121909285
Gnomad	rs121909285
Varsome	rs121909285
LitVar	rs121909285
Map	rs121909285
PheGenI	rs121909285
Biobank	rs121909285
1000 genomes	rs121909285
hgdp	rs121909285
ensembl	rs121909285
geneview	rs121909285
scholar	rs121909285
google	rs121909285
pharmgkb	rs121909285
gwascentral	rs121909285
openSNP	rs121909285
23andMe	rs121909285
SNPshot	rs121909285
SNPdbe	rs121909285
MSV3d	rs121909285
GWAS Ctlg	rs121909285

Max Magnitude

4

OMIM	601284
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909285(T;T)
Alt	rs121909285(T;T)
Reference	Rs121909285(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.52306971G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008730.3,