rs121912555
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912555(C;G) |
Make rs121912555(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 17816920 |
Gene | INSL3 |
is a | snp |
is | mentioned by |
dbSNP | rs121912555 |
dbSNP (classic) | rs121912555 |
ClinGen | rs121912555 |
ebi | rs121912555 |
HLI | rs121912555 |
Exac | rs121912555 |
Gnomad | rs121912555 |
Varsome | rs121912555 |
LitVar | rs121912555 |
Map | rs121912555 |
PheGenI | rs121912555 |
Biobank | rs121912555 |
1000 genomes | rs121912555 |
hgdp | rs121912555 |
ensembl | rs121912555 |
geneview | rs121912555 |
scholar | rs121912555 |
rs121912555 | |
pharmgkb | rs121912555 |
gwascentral | rs121912555 |
openSNP | rs121912555 |
23andMe | rs121912555 |
SNPshot | rs121912555 |
SNPdbe | rs121912555 |
MSV3d | rs121912555 |
GWAS Ctlg | rs121912555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912555(G;G) |
Alt | rs121912555(G;G) |
Reference | Rs121912555(C;C) |
Significance | Pathogenic |
Disease | Cryptorchidism |
Variation | info |
Gene | INSL3 |
CLNDBN | Cryptorchidism, unilateral or bilateral |
Reversed | 1 |
HGVS | NC_000019.9:g.17927729G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015954.25, |