rs312262796

Orientation

minus

Stabilized

minus

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

Make rs312262796(C;T)

Make rs312262796(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119918478

Gene

NOTCH2

is a	snp
is	mentioned by
dbSNP	rs312262796
dbSNP (classic)	rs312262796
ClinGen	rs312262796
ebi	rs312262796
HLI	rs312262796
Exac	rs312262796
Gnomad	rs312262796
Varsome	rs312262796
LitVar	rs312262796
Map	rs312262796
PheGenI	rs312262796
Biobank	rs312262796
1000 genomes	rs312262796
hgdp	rs312262796
ensembl	rs312262796
geneview	rs312262796
scholar	rs312262796
google	rs312262796
pharmgkb	rs312262796
gwascentral	rs312262796
openSNP	rs312262796
23andMe	rs312262796
SNPshot	rs312262796
SNPdbe	rs312262796
MSV3d	rs312262796
GWAS Ctlg	rs312262796

Max Magnitude

0

ClinVar
Risk	rs312262796(T;T)
Alt	rs312262796(T;T)
Reference	Rs312262796(C;C)
Significance	Pathogenic
Disease	Alagille syndrome 2
Variation	info
Gene	NOTCH2
CLNDBN	Alagille syndrome 2
Reversed	1
HGVS	NC_000001.10:g.120461101G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034164.2,