rs761562076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs761562076(A;A) |
Make rs761562076(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 136497146 |
Gene | NOTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs761562076 |
dbSNP (classic) | rs761562076 |
ClinGen | rs761562076 |
ebi | rs761562076 |
HLI | rs761562076 |
Exac | rs761562076 |
Gnomad | rs761562076 |
Varsome | rs761562076 |
LitVar | rs761562076 |
Map | rs761562076 |
PheGenI | rs761562076 |
Biobank | rs761562076 |
1000 genomes | rs761562076 |
hgdp | rs761562076 |
ensembl | rs761562076 |
geneview | rs761562076 |
scholar | rs761562076 |
rs761562076 | |
pharmgkb | rs761562076 |
gwascentral | rs761562076 |
openSNP | rs761562076 |
23andMe | rs761562076 |
SNPshot | rs761562076 |
SNPdbe | rs761562076 |
MSV3d | rs761562076 |
GWAS Ctlg | rs761562076 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761562076(A;A) rs761562076(T;T) |
Alt | rs761562076(A;A) rs761562076(T;T) |
Reference | Rs761562076(G;G) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome 5 not provided |
Variation | info |
Gene | NOTCH1 |
CLNDBN | Adams-Oliver syndrome 5 not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.139391598G>A; NC_000009.11:g.139391598G>T |
CLNSRC | |
CLNACC | RCV000227496.1, RCV000489297.1, |