rs864622059

Orientation

minus

Stabilized

minus

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

Make rs864622059(-;A)

Make rs864622059(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136516000

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs864622059
dbSNP (classic)	rs864622059
ClinGen	rs864622059
ebi	rs864622059
HLI	rs864622059
Exac	rs864622059
Gnomad	rs864622059
Varsome	rs864622059
LitVar	rs864622059
Map	rs864622059
PheGenI	rs864622059
Biobank	rs864622059
1000 genomes	rs864622059
hgdp	rs864622059
ensembl	rs864622059
geneview	rs864622059
scholar	rs864622059
google	rs864622059
pharmgkb	rs864622059
gwascentral	rs864622059
openSNP	rs864622059
23andMe	rs864622059
SNPshot	rs864622059
SNPdbe	rs864622059
MSV3d	rs864622059
GWAS Ctlg	rs864622059

Max Magnitude

0

ClinVar
Risk	rs864622059(A;A)
Alt	rs864622059(A;A)
Reference	Rs864622059(-;-)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	1
HGVS	NC_000009.11:g.139410453dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203698.1,