rs373764886
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373764886(C;T) |
Make rs373764886(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 32045716 |
Gene | RNF125 |
is a | snp |
is | mentioned by |
dbSNP | rs373764886 |
dbSNP (classic) | rs373764886 |
ClinGen | rs373764886 |
ebi | rs373764886 |
HLI | rs373764886 |
Exac | rs373764886 |
Gnomad | rs373764886 |
Varsome | rs373764886 |
LitVar | rs373764886 |
Map | rs373764886 |
PheGenI | rs373764886 |
Biobank | rs373764886 |
1000 genomes | rs373764886 |
hgdp | rs373764886 |
ensembl | rs373764886 |
geneview | rs373764886 |
scholar | rs373764886 |
rs373764886 | |
pharmgkb | rs373764886 |
gwascentral | rs373764886 |
openSNP | rs373764886 |
23andMe | rs373764886 |
SNPshot | rs373764886 |
SNPdbe | rs373764886 |
MSV3d | rs373764886 |
GWAS Ctlg | rs373764886 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373764886(A;A) rs373764886(T;T) |
Alt | rs373764886(A;A) rs373764886(T;T) |
Reference | Rs373764886(C;C) |
Significance | Pathogenic |
Disease | Tenorio syndrome |
Variation | info |
Gene | RNF125 |
CLNDBN | Tenorio syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.29625679C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162242.5, |