SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Gonadal Dysgenesis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894972
rs104894972
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C0018051
Disease:
Gonadal Dysgenesis 		0.010 GeneticVariation BEFREE 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: rs104894971
rs104894971
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C0018051
Disease:
Gonadal Dysgenesis 		0.010 GeneticVariation BEFREE A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 9521592 1998
dbSNP: rs104894966
rs104894966
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C0018051
Disease:
Gonadal Dysgenesis 		0.010 GeneticVariation BEFREE A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 8105086 1993