rs754529382

Orientation

plus

Stabilized

plus

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

Make rs754529382(A;A)

Make rs754529382(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136518172

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs754529382
dbSNP (classic)	rs754529382
ClinGen	rs754529382
ebi	rs754529382
HLI	rs754529382
Exac	rs754529382
Gnomad	rs754529382
Varsome	rs754529382
LitVar	rs754529382
Map	rs754529382
PheGenI	rs754529382
Biobank	rs754529382
1000 genomes	rs754529382
hgdp	rs754529382
ensembl	rs754529382
geneview	rs754529382
scholar	rs754529382
google	rs754529382
pharmgkb	rs754529382
gwascentral	rs754529382
openSNP	rs754529382
23andMe	rs754529382
SNPshot	rs754529382
SNPdbe	rs754529382
MSV3d	rs754529382
GWAS Ctlg	rs754529382

Max Magnitude

0

ClinVar
Risk	rs754529382(A;A) rs754529382(C;C)
Alt	rs754529382(A;A) rs754529382(C;C)
Reference	Rs754529382(G;G)
Significance	Probable-Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	0
HGVS	NC_000009.11:g.139412624G>C
CLNSRC
CLNACC	RCV000205720.1,