rs748973032
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748973032(A;A) |
Make rs748973032(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 50524129 |
Gene | NCAPH2, SCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs748973032 |
dbSNP (classic) | rs748973032 |
ClinGen | rs748973032 |
ebi | rs748973032 |
HLI | rs748973032 |
Exac | rs748973032 |
Gnomad | rs748973032 |
Varsome | rs748973032 |
LitVar | rs748973032 |
Map | rs748973032 |
PheGenI | rs748973032 |
Biobank | rs748973032 |
1000 genomes | rs748973032 |
hgdp | rs748973032 |
ensembl | rs748973032 |
geneview | rs748973032 |
scholar | rs748973032 |
rs748973032 | |
pharmgkb | rs748973032 |
gwascentral | rs748973032 |
openSNP | rs748973032 |
23andMe | rs748973032 |
SNPshot | rs748973032 |
SNPdbe | rs748973032 |
MSV3d | rs748973032 |
GWAS Ctlg | rs748973032 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748973032(A;A) |
Alt | rs748973032(A;A) |
Reference | Rs748973032(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | NCAPH2 SCO2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.50962558G>A |
CLNSRC | |
CLNACC | RCV000196635.1, |