Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894666
rs104894666
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs149082963
rs149082963
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 8872466

1996
dbSNP: rs149082963
rs149082963
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013

1994
dbSNP: rs371874189
rs371874189
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 8872466

1996
dbSNP: rs371874189
rs371874189
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013

1994
dbSNP: rs569914235
rs569914235
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 8872466

1996
dbSNP: rs569914235
rs569914235
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013

1994
dbSNP: rs777003373
rs777003373
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 8872466

1996
dbSNP: rs777003373
rs777003373
AMH ; MIR4321
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013

1994
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 GeneticVariation BEFREE The review suggests that AMH c.146T>G is not associated with AMH levels, while AMHRII -482 A>G may be related to AMH levels in PCOS and healthy subgroups. 31253588

2019
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 GeneticVariation BEFREE In summary, we found no evidence of significant associations of Ile49Ser and -482A>G with RO and PCOS, although contrasting Ile49Ser effects were implied among Caucasians between RO (up to 0.36% reduced risk) and PCOS (up to 1.5-fold increased risk). 27832628

2016
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 GeneticVariation BEFREE However, our results suggest that the AMH Ile(49)Ser polymorphism contributes to the severity of the PCOS phenotype. 18230658

2008
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910

2008
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633

2006
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE DNA sequence analysis from bone and testis tissues detected the known activating mutation in MAS that results in replacement of Arg by His at codon 201 of the G(s)alpha protein. 11297617

2001
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.010 GeneticVariation BEFREE The AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T and AMH Ile49Ser genotypes should be determined in a much larger group of boys with cryptorchidism. 27162065

2016
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 GeneticVariation BEFREE Within POI population, the AMH Ile(49)Ser and the AMHR2 -482A>G polymorphisms were not associated with age at the time of POI and LH, FSH as well as estradiol levels. 24146295

2013
dbSNP: rs199831511
rs199831511
AMH ; MIR4321
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 GeneticVariation BEFREE The variant D288E was also found in one of the patient's mother who also underwent POI at 32 years old. 25750103

2015
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0025048
Disease: Meconium Aspiration Syndrome
Meconium Aspiration Syndrome 		0.010 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910

2008
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.010 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910

2008
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.010 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633

2006
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		0.010 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633

2006