Gene: SRY ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894973
rs104894973
SRY
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
dbSNP: rs104894973
rs104894973
SRY
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
dbSNP: rs104894956
rs104894956
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894957
rs104894957
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894959
rs104894959
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894964
rs104894964
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894966
rs104894966
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894968
rs104894968
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894969
rs104894969
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894971
rs104894971
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894972
rs104894972
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894973
rs104894973
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894974
rs104894974
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894976
rs104894976
SRY
0.800 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs104894956
rs104894956
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894957
rs104894957
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894959
rs104894959
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894964
rs104894964
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894966
rs104894966
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894968
rs104894968
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894969
rs104894969
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894971
rs104894971
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894972
rs104894972
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894973
rs104894973
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006
dbSNP: rs104894974
rs104894974
SRY
0.800 GeneticVariation UNIPROT Consensus statement on management of intersex disorders. 18947601

2006