AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
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: rs1358787117
rs1358787117 		1.000 0.160 19 2251704 missense variant T/C snv 4.2E-06
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1994 1996
dbSNP: rs149082963
rs149082963 		1.000 0.160 19 2249367 missense variant T/G snv 1.4E-03 1.7E-03
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1994 1996
dbSNP: rs371874189
rs371874189 		1.000 0.160 19 2250424 missense variant A/G snv 3.6E-05 6.3E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1994 1996
dbSNP: rs569914235
rs569914235 		1.000 0.160 19 2249699 missense variant C/T snv 5.9E-05 4.9E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1994 1996
dbSNP: rs777003373
rs777003373 		1.000 0.160 19 2250676 missense variant C/T snv 1.5E-05 2.1E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 2 1994 1996
dbSNP: rs104894666
rs104894666 		1.000 0.160 19 2250667 stop gained C/G;T snv
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs138571039
rs138571039 		1.000 0.160 19 2251792 missense variant C/G snv 3.0E-05 4.2E-05
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs267606654
rs267606654 		1.000 0.160 19 2251418 stop gained G/A;T snv
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs397518444
rs397518444 		1.000 0.160 19 2251670 stop gained -/AGCTCAGCGTAGACCTCCGCGCC delins
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs10407022
rs10407022 		0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.333 3 2008 2019
dbSNP: rs768713502
rs768713502 		0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.030 1.000 3 2001 2008
dbSNP: rs10407022
rs10407022 		0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs10407022
rs10407022 		0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs199831511
rs199831511 		1.000 0.080 19 2251138 missense variant C/G;T snv 1.1E-03; 7.5E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs768713502
rs768713502 		0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs768713502
rs768713502 		0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05
CUI: C0025048
Disease: Meconium Aspiration Syndrome
Meconium Aspiration Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs768713502
rs768713502 		0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs768713502
rs768713502 		0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.010 1.000 1 2006 2006