rs370242930
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370242930(C;T) |
Make rs370242930(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 32065917 |
Gene | RNF125 |
is a | snp |
is | mentioned by |
dbSNP | rs370242930 |
dbSNP (classic) | rs370242930 |
ClinGen | rs370242930 |
ebi | rs370242930 |
HLI | rs370242930 |
Exac | rs370242930 |
Gnomad | rs370242930 |
Varsome | rs370242930 |
LitVar | rs370242930 |
Map | rs370242930 |
PheGenI | rs370242930 |
Biobank | rs370242930 |
1000 genomes | rs370242930 |
hgdp | rs370242930 |
ensembl | rs370242930 |
geneview | rs370242930 |
scholar | rs370242930 |
rs370242930 | |
pharmgkb | rs370242930 |
gwascentral | rs370242930 |
openSNP | rs370242930 |
23andMe | rs370242930 |
SNPshot | rs370242930 |
SNPdbe | rs370242930 |
MSV3d | rs370242930 |
GWAS Ctlg | rs370242930 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370242930(T;T) |
Alt | rs370242930(T;T) |
Reference | Rs370242930(C;C) |
Significance | Pathogenic |
Disease | Tenorio syndrome |
Variation | info |
Gene | RNF125 |
CLNDBN | Tenorio syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.29645880C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000162243.5, |