rs1110061
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 0 | benign polymorphism |
(G;G) | 0 |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 124500523 |
Gene | NR5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1110061 |
dbSNP (classic) | rs1110061 |
ClinGen | rs1110061 |
ebi | rs1110061 |
HLI | rs1110061 |
Exac | rs1110061 |
Gnomad | rs1110061 |
Varsome | rs1110061 |
LitVar | rs1110061 |
Map | rs1110061 |
PheGenI | rs1110061 |
Biobank | rs1110061 |
1000 genomes | rs1110061 |
hgdp | rs1110061 |
ensembl | rs1110061 |
geneview | rs1110061 |
scholar | rs1110061 |
rs1110061 | |
pharmgkb | rs1110061 |
gwascentral | rs1110061 |
openSNP | rs1110061 |
23andMe | rs1110061 |
SNPshot | rs1110061 |
SNPdbe | rs1110061 |
MSV3d | rs1110061 |
GWAS Ctlg | rs1110061 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 25989977] Mutational screening of NR5A1 gene encoding steroidogenic factor 1 (SF-1) in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations
ClinVar | |
---|---|
Risk | Rs1110061(G;G) |
Alt | Rs1110061(G;G) |
Reference | Rs1110061(C;C) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | NR5A1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.127262802C>G |
CLNSRC | |
CLNACC | RCV000251828.1, |