rs775441984
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs775441984(C;T) |
Make rs775441984(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 124503172 |
Gene | NR5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs775441984 |
dbSNP (classic) | rs775441984 |
ClinGen | rs775441984 |
ebi | rs775441984 |
HLI | rs775441984 |
Exac | rs775441984 |
Gnomad | rs775441984 |
Varsome | rs775441984 |
LitVar | rs775441984 |
Map | rs775441984 |
PheGenI | rs775441984 |
Biobank | rs775441984 |
1000 genomes | rs775441984 |
hgdp | rs775441984 |
ensembl | rs775441984 |
geneview | rs775441984 |
scholar | rs775441984 |
rs775441984 | |
pharmgkb | rs775441984 |
gwascentral | rs775441984 |
openSNP | rs775441984 |
23andMe | rs775441984 |
SNPshot | rs775441984 |
SNPdbe | rs775441984 |
MSV3d | rs775441984 |
GWAS Ctlg | rs775441984 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775441984(A;A) rs775441984(T;T) |
Alt | rs775441984(A;A) rs775441984(T;T) |
Reference | Rs775441984(C;C) |
Significance | Pathogenic |
Disease | 46 |
Variation | info |
Gene | NR5A1 |
CLNDBN | 46,XY sex reversal, type 3 |
Reversed | 0 |
HGVS | NC_000009.11:g.127265451C>A |
CLNSRC | |
CLNACC | RCV000197157.1, |