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rs10417628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs10417628(C;T)
Make rs10417628(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position2251818
GeneAMH, JSRP1
is asnp
is mentioned by
dbSNPrs10417628
ebirs10417628
HLIrs10417628
Exacrs10417628
Varsomers10417628
Maprs10417628
PheGenIrs10417628
hapmaprs10417628
1000 genomesrs10417628
hgdprs10417628
ensemblrs10417628
gopubmedrs10417628
geneviewrs10417628
scholarrs10417628
googlers10417628
pharmgkbrs10417628
gwascentralrs10417628
openSNPrs10417628
23andMers10417628
23andMe allrs10417628
SNP Nexus

SNPshotrs10417628
SNPdbers10417628
MSV3drs10417628
GWAS Ctlgrs10417628
GMAF0.005969
Max Magnitude0
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.



GET Evidence
AMH-V515A
aa_change Val515Ala
aa_change_short V515A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.983548
summary