rs1248142939, PMS2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oligospermia
CUI: C0028960
Disease: Oligospermia
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646 2012
Azoospermia
CUI: C0004509
Disease: Azoospermia
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646 2012