rs757645341

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4.3	Hereditary hemorrhagic telangiectasia

Make rs757645341(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

51915274

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs757645341
dbSNP (classic)	rs757645341
ClinGen	rs757645341
ebi	rs757645341
HLI	rs757645341
Exac	rs757645341
Gnomad	rs757645341
Varsome	rs757645341
LitVar	rs757645341
Map	rs757645341
PheGenI	rs757645341
Biobank	rs757645341
1000 genomes	rs757645341
hgdp	rs757645341
ensembl	rs757645341
geneview	rs757645341
scholar	rs757645341
google	rs757645341
pharmgkb	rs757645341
gwascentral	rs757645341
openSNP	rs757645341
23andMe	rs757645341
SNPshot	rs757645341
SNPdbe	rs757645341
MSV3d	rs757645341
GWAS Ctlg	rs757645341

Max Magnitude

4.3

ClinVar
Risk	rs757645341(A;A)
Alt	rs757645341(A;A)
Reference	Rs757645341(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.52309058G>A
CLNSRC
CLNACC	RCV000231890.1,