rs111033632

Orientation

minus

Stabilized

minus

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

Make rs111033632(A;A)

Make rs111033632(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

119967555

Gene

NOTCH2

is a	snp
is	mentioned by
dbSNP	rs111033632
dbSNP (classic)	rs111033632
ClinGen	rs111033632
ebi	rs111033632
HLI	rs111033632
Exac	rs111033632
Gnomad	rs111033632
Varsome	rs111033632
LitVar	rs111033632
Map	rs111033632
PheGenI	rs111033632
Biobank	rs111033632
1000 genomes	rs111033632
hgdp	rs111033632
ensembl	rs111033632
geneview	rs111033632
scholar	rs111033632
google	rs111033632
pharmgkb	rs111033632
gwascentral	rs111033632
openSNP	rs111033632
23andMe	rs111033632
SNPshot	rs111033632
SNPdbe	rs111033632
MSV3d	rs111033632
GWAS Ctlg	rs111033632

Max Magnitude

0

OMIM	600275
Desc
Variant	0002
Related	also

ClinVar
Risk	rs111033632(A;A)
Alt	rs111033632(A;A)
Reference	Rs111033632(G;G)
Significance	Pathogenic
Disease	Alagille syndrome 2
Variation	info
Gene	NOTCH2
CLNDBN	Alagille syndrome 2
Reversed	1
HGVS	NC_000001.10:g.120510178C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009811.4,