rs104894697
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894697(C;T) |
Make rs104894697(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 17816972 |
Gene | INSL3 |
is a | snp |
is | mentioned by |
dbSNP | rs104894697 |
dbSNP (classic) | rs104894697 |
ClinGen | rs104894697 |
ebi | rs104894697 |
HLI | rs104894697 |
Exac | rs104894697 |
Gnomad | rs104894697 |
Varsome | rs104894697 |
LitVar | rs104894697 |
Map | rs104894697 |
PheGenI | rs104894697 |
Biobank | rs104894697 |
1000 genomes | rs104894697 |
hgdp | rs104894697 |
ensembl | rs104894697 |
geneview | rs104894697 |
scholar | rs104894697 |
rs104894697 | |
pharmgkb | rs104894697 |
gwascentral | rs104894697 |
openSNP | rs104894697 |
23andMe | rs104894697 |
SNPshot | rs104894697 |
SNPdbe | rs104894697 |
MSV3d | rs104894697 |
GWAS Ctlg | rs104894697 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894697(G;G) rs104894697(T;T) |
Alt | rs104894697(G;G) rs104894697(T;T) |
Reference | Rs104894697(C;C) |
Significance | Pathogenic |
Disease | Cryptorchidism |
Variation | info |
Gene | INSL3 |
CLNDBN | Cryptorchidism, unilateral or bilateral |
Reversed | 1 |
HGVS | NC_000019.9:g.17927781G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015955.25, |