rs863223406

Orientation

plus

Stabilized

plus

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

Make rs863223406(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

51919116

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs863223406
dbSNP (classic)	rs863223406
ClinGen	rs863223406
ebi	rs863223406
HLI	rs863223406
Exac	rs863223406
Gnomad	rs863223406
Varsome	rs863223406
LitVar	rs863223406
Map	rs863223406
PheGenI	rs863223406
Biobank	rs863223406
1000 genomes	rs863223406
hgdp	rs863223406
ensembl	rs863223406
geneview	rs863223406
scholar	rs863223406
google	rs863223406
pharmgkb	rs863223406
gwascentral	rs863223406
openSNP	rs863223406
23andMe	rs863223406
SNPshot	rs863223406
SNPdbe	rs863223406
MSV3d	rs863223406
GWAS Ctlg	rs863223406

Max Magnitude

4.3

ClinVar
Risk	rs863223406(A;A)
Alt	rs863223406(A;A)
Reference	Rs863223406(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ACVRL1
CLNDBN	not provided
Reversed	0
HGVS	NC_000012.11:g.52312900G>A
CLNSRC
CLNACC	RCV000197808.1,