| Variant | Gene | 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 | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. | 2247151 | 1990 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction. | 7718558 | 1995 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | "XY sex reversal associated with a deletion 5' to the SRY ""HMG box"" in the testis-determining region." | 1438307 | 1992 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. | 7985018 | 1994 |
|||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal. | 20528776 | 2010 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. | 12107262 | 2002 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Description and functional implications of a novel mutation in the sex-determining gene SRY. | 8019555 | 1994 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis. | 12409269 | 2002 |
|||
|
C | 0.800 | CausalMutation | CLINVAR | Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. | 28787711 | 2017 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. | 2247151 | 1990 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR |