rs863223413

Orientation

plus

Stabilized

plus

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

Make rs863223413(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51915450

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs863223413
dbSNP (classic)	rs863223413
ClinGen	rs863223413
ebi	rs863223413
HLI	rs863223413
Exac	rs863223413
Gnomad	rs863223413
Varsome	rs863223413
LitVar	rs863223413
Map	rs863223413
PheGenI	rs863223413
Biobank	rs863223413
1000 genomes	rs863223413
hgdp	rs863223413
ensembl	rs863223413
geneview	rs863223413
scholar	rs863223413
google	rs863223413
pharmgkb	rs863223413
gwascentral	rs863223413
openSNP	rs863223413
23andMe	rs863223413
SNPshot	rs863223413
SNPdbe	rs863223413
MSV3d	rs863223413
GWAS Ctlg	rs863223413

Max Magnitude

4.3

ClinVar
Risk	rs863223413(T;T)
Alt	rs863223413(T;T)
Reference	Rs863223413(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ACVRL1
CLNDBN	not provided
Reversed	0
HGVS	NC_000012.11:g.52309234G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000198205.1,