rs755348996

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs755348996(A;A)

Make rs755348996(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127843094

Gene

ENG

is a	snp
is	mentioned by
dbSNP	rs755348996
dbSNP (classic)	rs755348996
ClinGen	rs755348996
ebi	rs755348996
HLI	rs755348996
Exac	rs755348996
Gnomad	rs755348996
Varsome	rs755348996
LitVar	rs755348996
Map	rs755348996
PheGenI	rs755348996
Biobank	rs755348996
1000 genomes	rs755348996
hgdp	rs755348996
ensembl	rs755348996
geneview	rs755348996
scholar	rs755348996
google	rs755348996
pharmgkb	rs755348996
gwascentral	rs755348996
openSNP	rs755348996
23andMe	rs755348996
SNPshot	rs755348996
SNPdbe	rs755348996
MSV3d	rs755348996
GWAS Ctlg	rs755348996

Max Magnitude

0

ClinVar
Risk	rs755348996(A;A) rs755348996(T;T)
Alt	rs755348996(A;A) rs755348996(T;T)
Reference	Rs755348996(C;C)
Significance	Probable-Pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome
Variation	info
Gene	ENG
CLNDBN	Osler hemorrhagic telangiectasia syndrome
Reversed	0
HGVS	NC_000009.11:g.130605373C>T
CLNSRC
CLNACC	RCV000468087.1,