rs780314255
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780314255(A;A) |
Make rs780314255(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50523877 |
Gene | NCAPH2, SCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs780314255 |
dbSNP (classic) | rs780314255 |
ClinGen | rs780314255 |
ebi | rs780314255 |
HLI | rs780314255 |
Exac | rs780314255 |
Gnomad | rs780314255 |
Varsome | rs780314255 |
LitVar | rs780314255 |
Map | rs780314255 |
PheGenI | rs780314255 |
Biobank | rs780314255 |
1000 genomes | rs780314255 |
hgdp | rs780314255 |
ensembl | rs780314255 |
geneview | rs780314255 |
scholar | rs780314255 |
rs780314255 | |
pharmgkb | rs780314255 |
gwascentral | rs780314255 |
openSNP | rs780314255 |
23andMe | rs780314255 |
SNPshot | rs780314255 |
SNPdbe | rs780314255 |
MSV3d | rs780314255 |
GWAS Ctlg | rs780314255 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780314255(A;A) |
Alt | rs780314255(A;A) |
Reference | Rs780314255(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCO2 NCAPH2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.50962306G>A |
CLNSRC | |
CLNACC | RCV000197926.1, |