Gene: SRY ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. 12107262

2002
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. 10843173

2000
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Description and functional implications of a novel mutation in the sex-determining gene SRY. 8019555

1994
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. 9450909

1998
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. 9678356

1998
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. 8447323

1993
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. 8353496

1993
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. 1570829

1992
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT A familial mutation in the testis-determining gene SRY shared by both sexes. 1483689

1992
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 8105086

1993
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene. 7776083

1995
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. 1415266

1992
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal. 10721678

2000
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father. 10670762

1999
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 10852465

2000
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Genetic evidence equating SRY and the testis-determining factor. 2247149

1990
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation. 11563911

2001
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene. 12793612

2003
dbSNP: rs764249635
rs764249635
SRY
0.700 GeneticVariation UNIPROT Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. 7717397

1995
dbSNP: rs606231179
rs606231179
SRY
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231178
rs606231178
SRY
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556370576
rs1556370576
SRY
A 0.700 CausalMutation CLINVAR

dbSNP: rs1556370558
rs1556370558
SRY
T 0.700 CausalMutation CLINVAR A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. 2247151

1990
dbSNP: rs1556370556
rs1556370556
SRY
CT 0.700 CausalMutation CLINVAR