rs1057518661

Orientation

minus

Stabilized

minus

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

Make rs1057518661(C;G)

Make rs1057518661(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

136497391

Gene

NOTCH1

is a	snp
is	mentioned by
dbSNP	rs1057518661
dbSNP (classic)	rs1057518661
ClinGen	rs1057518661
ebi	rs1057518661
HLI	rs1057518661
Exac	rs1057518661
Gnomad	rs1057518661
Varsome	rs1057518661
LitVar	rs1057518661
Map	rs1057518661
PheGenI	rs1057518661
Biobank	rs1057518661
1000 genomes	rs1057518661
hgdp	rs1057518661
ensembl	rs1057518661
geneview	rs1057518661
scholar	rs1057518661
google	rs1057518661
pharmgkb	rs1057518661
gwascentral	rs1057518661
openSNP	rs1057518661
23andMe	rs1057518661
SNPshot	rs1057518661
SNPdbe	rs1057518661
MSV3d	rs1057518661
GWAS Ctlg	rs1057518661

Max Magnitude

0

ClinVar
Risk	rs1057518661(G;G)
Alt	rs1057518661(G;G)
Reference	Rs1057518661(C;C)
Significance	Pathogenic
Disease	Aortic valve disorder
Variation	info
Gene	NOTCH1
CLNDBN	Aortic valve disorder
Reversed	1
HGVS	NC_000009.11:g.139391843G>C
CLNSRC
CLNACC	RCV000414999.1,