rs864622057

Orientation

minus

Stabilized

minus

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

Make rs864622057(C;C)

Make rs864622057(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136517848

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs864622057
dbSNP (classic)	rs864622057
ClinGen	rs864622057
ebi	rs864622057
HLI	rs864622057
Exac	rs864622057
Gnomad	rs864622057
Varsome	rs864622057
LitVar	rs864622057
Map	rs864622057
PheGenI	rs864622057
Biobank	rs864622057
1000 genomes	rs864622057
hgdp	rs864622057
ensembl	rs864622057
geneview	rs864622057
scholar	rs864622057
google	rs864622057
pharmgkb	rs864622057
gwascentral	rs864622057
openSNP	rs864622057
23andMe	rs864622057
SNPshot	rs864622057
SNPdbe	rs864622057
MSV3d	rs864622057
GWAS Ctlg	rs864622057

Max Magnitude

0

ClinVar
Risk	rs864622057(C;C)
Alt	rs864622057(C;C)
Reference	Rs864622057(T;T)
Significance	Probable-Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	1
HGVS	NC_000009.11:g.139412300A>G
CLNSRC
CLNACC	RCV000205123.1,