rs373842615

Orientation

plus

Stabilized

plus

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

Make rs373842615(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

127819662

Gene	ENG, LOC102723566

is a	snp
is	mentioned by
dbSNP	rs373842615
dbSNP (classic)	rs373842615
ClinGen	rs373842615
ebi	rs373842615
HLI	rs373842615
Exac	rs373842615
Gnomad	rs373842615
Varsome	rs373842615
LitVar	rs373842615
Map	rs373842615
PheGenI	rs373842615
Biobank	rs373842615
1000 genomes	rs373842615
hgdp	rs373842615
ensembl	rs373842615
geneview	rs373842615
scholar	rs373842615
google	rs373842615
pharmgkb	rs373842615
gwascentral	rs373842615
openSNP	rs373842615
23andMe	rs373842615
SNPshot	rs373842615
SNPdbe	rs373842615
MSV3d	rs373842615
GWAS Ctlg	rs373842615

Max Magnitude

4.3

ClinVar
Risk	rs373842615(C;C)
Alt	rs373842615(C;C)
Reference	Rs373842615(T;T)
Significance	Pathogenic
Disease	Haemorrhagic telangiectasia 1 not provided
Variation	info
Gene	ENG LOC102723566
CLNDBN	Haemorrhagic telangiectasia 1 not provided
Reversed	0
HGVS	NC_000009.11:g.130581941T>C
CLNSRC
CLNACC	RCV000149883.1, RCV000256118.1,