rs312262794

Orientation

minus

Stabilized

minus

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

Make rs312262794(C;T)

Make rs312262794(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119968161

Gene

NOTCH2

is a	snp
is	mentioned by
dbSNP	rs312262794
dbSNP (classic)	rs312262794
ClinGen	rs312262794
ebi	rs312262794
HLI	rs312262794
Exac	rs312262794
Gnomad	rs312262794
Varsome	rs312262794
LitVar	rs312262794
Map	rs312262794
PheGenI	rs312262794
Biobank	rs312262794
1000 genomes	rs312262794
hgdp	rs312262794
ensembl	rs312262794
geneview	rs312262794
scholar	rs312262794
google	rs312262794
pharmgkb	rs312262794
gwascentral	rs312262794
openSNP	rs312262794
23andMe	rs312262794
SNPshot	rs312262794
SNPdbe	rs312262794
MSV3d	rs312262794
GWAS Ctlg	rs312262794

Max Magnitude

0

ClinVar
Risk	rs312262794(T;T)
Alt	rs312262794(T;T)
Reference	Rs312262794(C;C)
Significance	Pathogenic
Disease	Alagille syndrome 2
Variation	info
Gene	NOTCH2
CLNDBN	Alagille syndrome 2
Reversed	1
HGVS	NC_000001.10:g.120510784G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034161.2,