rs746342893

Orientation

plus

Stabilized

plus

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

Make rs746342893(C;T)

Make rs746342893(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

136505028

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs746342893
dbSNP (classic)	rs746342893
ClinGen	rs746342893
ebi	rs746342893
HLI	rs746342893
Exac	rs746342893
Gnomad	rs746342893
Varsome	rs746342893
LitVar	rs746342893
Map	rs746342893
PheGenI	rs746342893
Biobank	rs746342893
1000 genomes	rs746342893
hgdp	rs746342893
ensembl	rs746342893
geneview	rs746342893
scholar	rs746342893
google	rs746342893
pharmgkb	rs746342893
gwascentral	rs746342893
openSNP	rs746342893
23andMe	rs746342893
SNPshot	rs746342893
SNPdbe	rs746342893
MSV3d	rs746342893
GWAS Ctlg	rs746342893

Max Magnitude

0

ClinVar
Risk	rs746342893(A;A) rs746342893(T;T)
Alt	rs746342893(A;A) rs746342893(T;T)
Reference	Rs746342893(C;C)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	0
HGVS	NC_000009.11:g.139399480C>A
CLNSRC
CLNACC	RCV000206255.1,