rs41309766

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;C)	4	Possibly pathogenic for an aortic valve disorder
(C;C)	0	common in clinvar

Make rs41309766(-;-)

Reference

GRCh38 38.1/142

Chromosome

9

Position

136505384

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs41309766
dbSNP (classic)	rs41309766
ClinGen	rs41309766
ebi	rs41309766
HLI	rs41309766
Exac	rs41309766
Gnomad	rs41309766
Varsome	rs41309766
LitVar	rs41309766
Map	rs41309766
PheGenI	rs41309766
Biobank	rs41309766
1000 genomes	rs41309766
hgdp	rs41309766
ensembl	rs41309766
geneview	rs41309766
scholar	rs41309766
google	rs41309766
pharmgkb	rs41309766
gwascentral	rs41309766
openSNP	rs41309766
23andMe	rs41309766
SNPshot	rs41309766
SNPdbe	rs41309766
MSV3d	rs41309766
GWAS Ctlg	rs41309766

Max Magnitude

4

c.4512delC (p.Cys1505Valfs)

ClinVar
Risk	rs41309766(-;-)
Alt	rs41309766(-;-)
Reference	Rs41309766(C;C)
Significance	Pathogenic
Disease	Aortic valve disorder
Variation	info
Gene	NOTCH1
CLNDBN	Aortic valve disorder
Reversed	1
HGVS	NC_000009.11:g.139399836delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013295.24,