rs192861143
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 0.5 | likely to be benign |
Make rs192861143(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 171448667 |
Gene | DCAF17 |
is a | snp |
is | mentioned by |
dbSNP | rs192861143 |
dbSNP (classic) | rs192861143 |
ClinGen | rs192861143 |
ebi | rs192861143 |
HLI | rs192861143 |
Exac | rs192861143 |
Gnomad | rs192861143 |
Varsome | rs192861143 |
LitVar | rs192861143 |
Map | rs192861143 |
PheGenI | rs192861143 |
Biobank | rs192861143 |
1000 genomes | rs192861143 |
hgdp | rs192861143 |
ensembl | rs192861143 |
geneview | rs192861143 |
scholar | rs192861143 |
rs192861143 | |
pharmgkb | rs192861143 |
gwascentral | rs192861143 |
openSNP | rs192861143 |
23andMe | rs192861143 |
SNPshot | rs192861143 |
SNPdbe | rs192861143 |
MSV3d | rs192861143 |
GWAS Ctlg | rs192861143 |
Max Magnitude | 0.5 |
ClinVar | |
---|---|
Risk | rs192861143(T;T) |
Alt | rs192861143(T;T) |
Reference | Rs192861143(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Hypogonadism |
Variation | info |
Gene | DCAF17 |
CLNDBN | not provided Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities |
Reversed | 0 |
HGVS | NC_000002.11:g.172305177C>T |
CLNSRC | |
CLNACC | RCV000171450.1, RCV000341904.1, |