AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1358787117
rs1358787117
Entrez Id: 268
Gene Symbol: AMH
AMH
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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: rs1358787117
rs1358787117
Entrez Id: 268
Gene Symbol: AMH
AMH
CUI: C1849930
Disease:
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013 1994
dbSNP: rs149082963
rs149082963
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013 1994
dbSNP: rs104894666
rs104894666
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1849930
Disease:
Persistent Mullerian duct syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs138571039
rs138571039
Entrez Id: 268;126306
Gene Symbol: AMH;JSRP1
AMH;JSRP1
CUI: C1849930
Disease:
Persistent Mullerian duct syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs267606654
rs267606654
Entrez Id: 268
Gene Symbol: AMH
AMH
CUI: C1849930
Disease:
Persistent Mullerian duct syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397518444
rs397518444
Entrez Id: 268
Gene Symbol: AMH
AMH
CUI: C1849930
Disease:
Persistent Mullerian duct syndrome 		GAGCTCAGCGTAGACCTCCGCGCC 0.700 CausalMutation CLINVAR
dbSNP: rs10407022
rs10407022
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0032460
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0032460
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0032460
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0242292
Disease:
McCune-Albright Syndrome 		0.030 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910 2008
dbSNP: rs768713502
rs768713502
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0242292
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0242292
Disease:
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
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0010417
Disease:
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: rs199831511
rs199831511
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0085215
Disease:
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: rs10407022
rs10407022
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0085215
Disease:
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: rs768713502
rs768713502
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C0025048
Disease:
Meconium Aspiration Syndrome 		0.010 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910 2008
dbSNP: rs768713502
rs768713502
Entrez Id: 268;100423031
Gene Symbol: AMH;MIR4321
AMH;MIR4321
CUI: C1096155
Disease:
Macrophage Activation Syndrome 		0.010 GeneticVariation BEFREE MAS R201H mutation was identified in both the testes. 18505910 2008