NR5A1, nuclear receptor subfamily 5 group A member 1, 2516
N. diseases: 255; N. variants: 38
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
TT | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
ACAGGTCCAGGTC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. | 10369247 | 1999 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. | 10369247 | 1999 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. | 10369247 | 1999 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. | 10369247 | 1999 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. | 10369247 | 1999 |