rs587777734

Orientation

plus

Stabilized

plus

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

Make rs587777734(C;T)

Make rs587777734(T;T)

Reference

GRCh38 38.1/142

Chromosome

9

Position

136499229

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs587777734
dbSNP (classic)	rs587777734
ClinGen	rs587777734
ebi	rs587777734
HLI	rs587777734
Exac	rs587777734
Gnomad	rs587777734
Varsome	rs587777734
LitVar	rs587777734
Map	rs587777734
PheGenI	rs587777734
Biobank	rs587777734
1000 genomes	rs587777734
hgdp	rs587777734
ensembl	rs587777734
geneview	rs587777734
scholar	rs587777734
google	rs587777734
pharmgkb	rs587777734
gwascentral	rs587777734
openSNP	rs587777734
23andMe	rs587777734
SNPshot	rs587777734
SNPdbe	rs587777734
MSV3d	rs587777734
GWAS Ctlg	rs587777734

Max Magnitude

0

ClinVar
Risk	rs587777734(T;T)
Alt	rs587777734(T;T)
Reference	Rs587777734(C;C)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 5 Adams-Oliver syndrome 1
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5 Adams-Oliver syndrome 1
Reversed	0
HGVS	NC_000009.11:g.139393681C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144233.4, RCV000148352.1,