rs312262795

Orientation

minus

Stabilized

minus

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

Make rs312262795(C;T)

Make rs312262795(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119968194

Gene

NOTCH2

is a	snp
is	mentioned by
dbSNP	rs312262795
dbSNP (classic)	rs312262795
ClinGen	rs312262795
ebi	rs312262795
HLI	rs312262795
Exac	rs312262795
Gnomad	rs312262795
Varsome	rs312262795
LitVar	rs312262795
Map	rs312262795
PheGenI	rs312262795
Biobank	rs312262795
1000 genomes	rs312262795
hgdp	rs312262795
ensembl	rs312262795
geneview	rs312262795
scholar	rs312262795
google	rs312262795
pharmgkb	rs312262795
gwascentral	rs312262795
openSNP	rs312262795
23andMe	rs312262795
SNPshot	rs312262795
SNPdbe	rs312262795
MSV3d	rs312262795
GWAS Ctlg	rs312262795

Max Magnitude

0

ClinVar
Risk	rs312262795(T;T)
Alt	rs312262795(T;T)
Reference	Rs312262795(C;C)
Significance	Pathogenic
Disease	Alagille syndrome 2
Variation	info
Gene	NOTCH2
CLNDBN	Alagille syndrome 2
Reversed	1
HGVS	NC_000001.10:g.120510817G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034160.2,