rs606231208
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGCAGCTG;CTGCAGCTG) | 0 | common in clinvar |
Make rs606231208(-;-) |
Make rs606231208(-;CTGCAGCTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 124500261 |
Gene | NR5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231208 |
dbSNP (classic) | rs606231208 |
ClinGen | rs606231208 |
ebi | rs606231208 |
HLI | rs606231208 |
Exac | rs606231208 |
Gnomad | rs606231208 |
Varsome | rs606231208 |
LitVar | rs606231208 |
Map | rs606231208 |
PheGenI | rs606231208 |
Biobank | rs606231208 |
1000 genomes | rs606231208 |
hgdp | rs606231208 |
ensembl | rs606231208 |
geneview | rs606231208 |
scholar | rs606231208 |
rs606231208 | |
pharmgkb | rs606231208 |
gwascentral | rs606231208 |
openSNP | rs606231208 |
23andMe | rs606231208 |
SNPshot | rs606231208 |
SNPdbe | rs606231208 |
MSV3d | rs606231208 |
GWAS Ctlg | rs606231208 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231208(-;-) |
Alt | rs606231208(-;-) |
Reference | Rs606231208(CTGCAGCTG;CTGCAGCTG) |
Significance | Pathogenic |
Disease | Premature ovarian failure 7 |
Variation | info |
Gene | NR5A1 |
CLNDBN | Premature ovarian failure 7 |
Reversed | 1 |
HGVS | NC_000009.11:g.127262540_127262548delCAGCTGCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013656.18, |