rs587781259

Orientation

minus

Stabilized

minus

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

Make rs587781259(A;A)

Make rs587781259(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

136505409

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs587781259
dbSNP (classic)	rs587781259
ClinGen	rs587781259
ebi	rs587781259
HLI	rs587781259
Exac	rs587781259
Gnomad	rs587781259
Varsome	rs587781259
LitVar	rs587781259
Map	rs587781259
PheGenI	rs587781259
Biobank	rs587781259
1000 genomes	rs587781259
hgdp	rs587781259
ensembl	rs587781259
geneview	rs587781259
scholar	rs587781259
google	rs587781259
pharmgkb	rs587781259
gwascentral	rs587781259
openSNP	rs587781259
23andMe	rs587781259
SNPshot	rs587781259
SNPdbe	rs587781259
MSV3d	rs587781259
GWAS Ctlg	rs587781259

Max Magnitude

0

ClinVar
Risk	rs587781259(A;A)
Alt	rs587781259(A;A)
Reference	Rs587781259(G;G)
Significance	Pathogenic
Disease	Adams-Oliver syndrome 5
Variation	info
Gene	NOTCH1
CLNDBN	Adams-Oliver syndrome 5
Reversed	1
HGVS	NC_000009.11:g.139399861C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144236.5,