Promethease 0.1.82

Rs10417628

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is asnp
is mentioned by
dbSNPrs10417628
hapmaprs10417628
hgdprs10417628
ensemblrs10417628
gopubmedrs10417628
scholarrs10417628
googlers10417628
pharmgkbrs10417628
hgvbaseg2prs10417628
medrefsnprs10417628
23andMers10417628
SNP Nexus

GeneAMH
Chromosome19
Orientationplus
Position2202817
GenotypeEffect
rs10417628(C;C)*?
rs10417628(C;T)*?
rs10417628(T;T)*?


Venter snp
Source plos
Gene AMH
allele C
frequency
sift TOLERATED
HuRef 1103691072204
Disease Association 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.
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