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: rs104894119
rs104894119 		0.807 0.160 9 124500685 missense variant C/T snv
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		0.800 1.000 4 2016 2017
dbSNP: rs886039769
rs886039769 		0.807 0.160 9 124500686 missense variant G/A snv
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		0.800 1.000 4 2016 2017
dbSNP: rs121918655
rs121918655 		0.851 0.200 9 124493143 missense variant C/T snv
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs201095702
rs201095702 		1.000 9 124500326 missense variant C/T snv 1.3E-04 7.0E-05
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.800 1.000 1 2010 2010
dbSNP: rs387906690
rs387906690 		1.000 9 124500568 missense variant G/A snv 6.2E-05 2.1E-05
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.800 1.000 1 2010 2010
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: rs1057517779
rs1057517779 		0.851 0.160 9 124493083 missense variant G/A snv
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		Male Urogenital Diseases 0.700 1.000 6 2011 2016
dbSNP: rs104894118
rs104894118 		0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2000 2016
dbSNP: rs104894119
rs104894119 		0.807 0.160 9 124500685 missense variant C/T snv
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 2 2000 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: rs1564146922
rs1564146922 		0.925 0.160 9 124482917 stop gained G/C snv
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs200749741
rs200749741 		0.925 0.080 9 124500574 missense variant G/A snv 2.3E-04 9.3E-04
CUI: C2751825
Disease: PREMATURE OVARIAN FAILURE 7 (disorder)
PREMATURE OVARIAN FAILURE 7 (disorder) 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs200749741
rs200749741 		0.925 0.080 9 124500574 missense variant G/A snv 2.3E-04 9.3E-04
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 1.000 1 2010 2010
dbSNP: rs2297605
rs2297605 		9 124493169 intron variant G/A;C;T snv 0.49; 3.7E-05; 8.2E-06
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs780568525
rs780568525 		1.000 9 124500248 missense variant C/A;T snv 6.9E-05
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8 		0.700 1.000 1 2010 2010
dbSNP: rs104894118
rs104894118 		0.882 0.080 9 124500196 missense variant C/A;T snv 1.6E-05; 4.1E-06
CUI: C4479664
Disease: ADRENAL INSUFFICIENCY, NR5A1-RELATED
ADRENAL INSUFFICIENCY, NR5A1-RELATED 		0.700 0
dbSNP: rs104894119
rs104894119 		0.807 0.160 9 124500685 missense variant C/T snv
CUI: C4479664
Disease: ADRENAL INSUFFICIENCY, NR5A1-RELATED
ADRENAL INSUFFICIENCY, NR5A1-RELATED 		0.700 0
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