rs779485996

Orientation

plus

Stabilized

plus

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

Make rs779485996(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

51915293

Gene

ACVRL1

is a	snp
is	mentioned by
dbSNP	rs779485996
dbSNP (classic)	rs779485996
ClinGen	rs779485996
ebi	rs779485996
HLI	rs779485996
Exac	rs779485996
Gnomad	rs779485996
Varsome	rs779485996
LitVar	rs779485996
Map	rs779485996
PheGenI	rs779485996
Biobank	rs779485996
1000 genomes	rs779485996
hgdp	rs779485996
ensembl	rs779485996
geneview	rs779485996
scholar	rs779485996
google	rs779485996
pharmgkb	rs779485996
gwascentral	rs779485996
openSNP	rs779485996
23andMe	rs779485996
SNPshot	rs779485996
SNPdbe	rs779485996
MSV3d	rs779485996
GWAS Ctlg	rs779485996

Max Magnitude

4.3

ClinVar
Risk	rs779485996(A;A) rs779485996(T;T)
Alt	rs779485996(A;A) rs779485996(T;T)
Reference	Rs779485996(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.52309077G>T
CLNSRC
CLNACC	RCV000465534.1,