{{Rsnum
|rsid=10417628
|Gene=AMH
|Chromosome=19
|position=2251818
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.005969
|Gene_s=AMH,JSRP1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{Venter SNP
|rsid=10417628
|allele=C
|frequency=
|uid=1103691072204
|type=homozygous_SNP
|hugo=AMH
|ensembl gene=ENSG00000104899
|ensembl transcript=ENST00000221496
|sift=TOLERATED
|disease=Defects in AMH are the cause of persistent Muellerian duct syndrome type I (PMDS-1) (MIM:261550). PMDS-1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
}}

{{GET Evidence
|gene=AMH
|aa_change=Val515Ala
|aa_change_short=V515A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10417628
|overall_frequency_n=10522
|overall_frequency_d=10698
|overall_frequency=0.983548
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}