Disease: 46,XY Sex Reversal 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894119
rs104894119 		0.807 0.160 9 124500685 missense variant C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs104894120
rs104894120 		1.000 0.160 9 124482834 missense variant A/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs104894124
rs104894124 		0.925 0.160 9 124503353 missense variant C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs104894125
rs104894125 		1.000 0.160 9 124503089 missense variant C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs104894126
rs104894126 		1.000 0.160 9 124500689 missense variant C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs121918654
rs121918654 		0.882 0.200 9 124503218 missense variant GC/TT mnv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs886039769
rs886039769 		0.807 0.160 9 124500686 missense variant G/A snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 8 1999 2017
dbSNP: rs1057517779
rs1057517779 		0.851 0.160 9 124493083 missense variant G/A snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 6 2011 2016
dbSNP: rs1564146922
rs1564146922 		0.925 0.160 9 124482917 stop gained G/C snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs104894123
rs104894123 		1.000 0.160 9 124503348 stop gained G/A;T snv 8.1E-06
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918655
rs121918655 		0.851 0.200 9 124493143 missense variant C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121918656
rs121918656 		0.925 0.160 9 124503393 start lost C/T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554721235
rs1554721235 		1.000 0.160 9 124493082 missense variant C/A;T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554721883
rs1554721883 		1.000 0.160 9 124503358 frameshift variant CACAG/ACAGGTCCAGGTC delins
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs375469069
rs375469069 		1.000 0.160 9 124500709 missense variant C/T snv 4.1E-06
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs606231205
rs606231205 		1.000 0.160 9 124503378 frameshift variant G/- del
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs606231206
rs606231206 		0.925 0.160 9 124500294 frameshift variant G/- del
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs606231207
rs606231207 		0.925 0.160 9 124500570 frameshift variant C/- del
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs775441984
rs775441984 		1.000 0.160 9 124503172 stop gained C/A;T snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs863224904
rs863224904 		1.000 0.160 9 124482934 missense variant A/C snv
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0