rs606231206
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231206(-;-) |
Make rs606231206(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 124500294 |
Gene | NR5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231206 |
dbSNP (classic) | rs606231206 |
ClinGen | rs606231206 |
ebi | rs606231206 |
HLI | rs606231206 |
Exac | rs606231206 |
Gnomad | rs606231206 |
Varsome | rs606231206 |
LitVar | rs606231206 |
Map | rs606231206 |
PheGenI | rs606231206 |
Biobank | rs606231206 |
1000 genomes | rs606231206 |
hgdp | rs606231206 |
ensembl | rs606231206 |
geneview | rs606231206 |
scholar | rs606231206 |
rs606231206 | |
pharmgkb | rs606231206 |
gwascentral | rs606231206 |
openSNP | rs606231206 |
23andMe | rs606231206 |
SNPshot | rs606231206 |
SNPdbe | rs606231206 |
MSV3d | rs606231206 |
GWAS Ctlg | rs606231206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231206(-;-) |
Alt | rs606231206(-;-) |
Reference | Rs606231206(C;C) |
Significance | Pathogenic |
Disease | 46 Premature ovarian failure 7 |
Variation | info |
Gene | NR5A1 |
CLNDBN | 46,XY sex reversal, type 3 Premature ovarian failure 7 |
Reversed | 1 |
HGVS | NC_000009.11:g.127262573delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013648.24, RCV000013649.19, |