rs864622063

Orientation

minus

Stabilized

minus

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

Make rs864622063(-;-)

Make rs864622063(-;TC)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136499144

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs864622063
dbSNP (classic)	rs864622063
ClinGen	rs864622063
ebi	rs864622063
HLI	rs864622063
Exac	rs864622063
Gnomad	rs864622063
Varsome	rs864622063
LitVar	rs864622063
Map	rs864622063
PheGenI	rs864622063
Biobank	rs864622063
1000 genomes	rs864622063
hgdp	rs864622063
ensembl	rs864622063
geneview	rs864622063
scholar	rs864622063
google	rs864622063
pharmgkb	rs864622063
gwascentral	rs864622063
openSNP	rs864622063
23andMe	rs864622063
SNPshot	rs864622063
SNPdbe	rs864622063
MSV3d	rs864622063
GWAS Ctlg	rs864622063

Max Magnitude

0

ClinVar
Risk	rs864622063(-;-)
Alt	rs864622063(-;-)
Reference	Rs864622063(TC;TC)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	1
HGVS	NC_000009.11:g.139393596_139393597delGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000206353.1,