rs769250383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs769250383(A;G) |
Make rs769250383(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50523705 |
Gene | NCAPH2, SCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs769250383 |
dbSNP (classic) | rs769250383 |
ClinGen | rs769250383 |
ebi | rs769250383 |
HLI | rs769250383 |
Exac | rs769250383 |
Gnomad | rs769250383 |
Varsome | rs769250383 |
LitVar | rs769250383 |
Map | rs769250383 |
PheGenI | rs769250383 |
Biobank | rs769250383 |
1000 genomes | rs769250383 |
hgdp | rs769250383 |
ensembl | rs769250383 |
geneview | rs769250383 |
scholar | rs769250383 |
rs769250383 | |
pharmgkb | rs769250383 |
gwascentral | rs769250383 |
openSNP | rs769250383 |
23andMe | rs769250383 |
SNPshot | rs769250383 |
SNPdbe | rs769250383 |
MSV3d | rs769250383 |
GWAS Ctlg | rs769250383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769250383(G;G) |
Alt | rs769250383(G;G) |
Reference | Rs769250383(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCO2 NCAPH2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.50962134A>G |
CLNSRC | |
CLNACC | RCV000199522.1, |