rs864622058

Orientation

minus

Stabilized

minus

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

Make rs864622058(A;A)

Make rs864622058(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136517826

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs864622058
dbSNP (classic)	rs864622058
ClinGen	rs864622058
ebi	rs864622058
HLI	rs864622058
Exac	rs864622058
Gnomad	rs864622058
Varsome	rs864622058
LitVar	rs864622058
Map	rs864622058
PheGenI	rs864622058
Biobank	rs864622058
1000 genomes	rs864622058
hgdp	rs864622058
ensembl	rs864622058
geneview	rs864622058
scholar	rs864622058
google	rs864622058
pharmgkb	rs864622058
gwascentral	rs864622058
openSNP	rs864622058
23andMe	rs864622058
SNPshot	rs864622058
SNPdbe	rs864622058
MSV3d	rs864622058
GWAS Ctlg	rs864622058

Max Magnitude

0

ClinVar
Risk	rs864622058(A;A)
Alt	rs864622058(A;A)
Reference	Rs864622058(G;G)
Significance	Probable-Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	1
HGVS	NC_000009.11:g.139412278C>T
CLNSRC
CLNACC	RCV000205841.1,