rs864622056

Orientation

minus

Stabilized

minus

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

Make rs864622056(A;A)

Make rs864622056(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136517850

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs864622056
dbSNP (classic)	rs864622056
ClinGen	rs864622056
ebi	rs864622056
HLI	rs864622056
Exac	rs864622056
Gnomad	rs864622056
Varsome	rs864622056
LitVar	rs864622056
Map	rs864622056
PheGenI	rs864622056
Biobank	rs864622056
1000 genomes	rs864622056
hgdp	rs864622056
ensembl	rs864622056
geneview	rs864622056
scholar	rs864622056
google	rs864622056
pharmgkb	rs864622056
gwascentral	rs864622056
openSNP	rs864622056
23andMe	rs864622056
SNPshot	rs864622056
SNPdbe	rs864622056
MSV3d	rs864622056
GWAS Ctlg	rs864622056

Max Magnitude

0

ClinVar
Risk	rs864622056(A;A)
Alt	rs864622056(A;A)
Reference	Rs864622056(G;G)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	1
HGVS	NC_000009.11:g.139412302C>T
CLNSRC
CLNACC	RCV000203986.1,