display.json

[{"Gene Name": "Ccna1 ", "Alleles": "A>G", "rsID": "rs200577481", "AA Change": "E253G", "Allele Freq gnomAD": "2.60%", "Microinjection Results": "", "Mouse  Phenotype / Status": "Infertile; unpublished", "Other Notes": "NP from Schimenti list, Now GNOMAD updated the MAF for this allele, TopMed and Gnomad sows MAF as 0.0002, exAc Still shows it as 0.12", "Researcher": "PS"}, {"Gene Name": "Cdk2", "Alleles": "A>C", "rsID": "rs3087335", "AA Change": "Y15S", "Allele Freq gnomAD": "NOT IN GNOMAD", "Microinjection Results": "", "Mouse  Phenotype / Status": "Male Infertile. Spermatogonia defects doi: 10.1242/dev.180273  doi: 10.1073/pnas.1506974112", "Other Notes": "", "Researcher": "PS"}, {"Gene Name": "Spo11", "Alleles": "C>A", "rsID": "rs185545661", "AA Change": "P268T", "Allele Freq gnomAD": "0.04% Latino", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fewer gametes; recombination defects doi:10.1093/biolre/ioz089", "Other Notes": "SNP from Schimenti list", "Researcher": "TNT"}, {"Gene Name": "Sept12", "Alleles": "C>T", "rsID": "rs138628476", "AA Change": "G169E", "Allele Freq gnomAD": "0.2% African", "Microinjection Results": "", "Mouse  Phenotype / Status": "Subfertile; abn. sperm motility. Females normal doi: 10.1038/s41467-019-11959-3", "Other Notes": "Collab w/ Yu Lab", "Researcher": "TNT"}, {"Gene Name": "Egr4", "Alleles": "G>A", "rsID": "rs35980039", "AA Change": "P198L", "Allele Freq gnomAD": "0.03% Euro 0.4% S. Asians", "Microinjection Results": "1 homozygous, 4 het, 5 P198L/nhej", "Mouse  Phenotype / Status": "50% sperm, 75% testis weight; unpublished", "Other Notes": "SNP from Schimenti list", "Researcher": "TNT"}, {"Gene Name": "Mlh1", "Alleles": "A>G", "rsID": "rs35001569", "AA Change": "K618E", "Allele Freq gnomAD": "0.35%", "Microinjection Results": "", "Mouse  Phenotype / Status": "Lower sperm; M+F reduced fertility; reduced crossovers; unpublished", "Other Notes": "Collab w/ Yu Lab", "Researcher": "PS"}, {"Gene Name": "Mlh1", "Alleles": "G>A", "rsID": "rs35831931", "AA Change": "V716M", "Allele Freq gnomAD": "0.2% EURO", "Microinjection Results": "4 HR edited", "Mouse  Phenotype / Status": "Premature female infertility; reduced crossovers; increased embryo resorptions; unpublished", "Other Notes": "", "Researcher": "PS"}, {"Gene Name": "Mlh1", "Alleles": "A>C", "rsID": "rs63750449", "AA Change": "K618T", "Allele Freq gnomAD": "0.30%", "Microinjection Results": "3/23 HR edited", "Mouse  Phenotype / Status": "Lower sperm; M+F reduced fertility with age; reduced crossovers; unpublished", "Other Notes": "", "Researcher": "PS"}, {"Gene Name": "Mlh1", "Alleles": "A>G", "rsID": "rs63750650", "AA Change": "E268G", "Allele Freq gnomAD": "0.16% Euro", "Microinjection Results": "4 Homozygous, 4 clean hets, 3 mosaics with EG alleles", "Mouse  Phenotype / Status": "Premature female infertility; reduced crossovers; increased embryo resorptions; unpublished", "Other Notes": "Collab w/ Yu Lab", "Researcher": "PS"}, {"Gene Name": "Rabl2", "Alleles": "C>T", "rsID": "rs147189052", "AA Change": "L119F", "Allele Freq gnomAD": "0.7%(ExAC)", "Microinjection Results": "4 Homozygous, 3 mosaics with LF and NHEJ alleles", "Mouse  Phenotype / Status": "Males specific Infertile; abn sperm motility. unpublished", "Other Notes": "Collab w/ Yu Lab", "Researcher": "PS"}, {"Gene Name": "Rabl2", "Alleles": "G>T", "rsID": "rs200121688", "AA Change": "V158F", "Allele Freq gnomAD": "0.02%", "Microinjection Results": "6 mosaics with VF and NHEJ alleles", "Mouse  Phenotype / Status": "Males specific Infertile; abn sperm motility. unpublished", "Other Notes": "Collab w/ Yu Lab", "Researcher": "PS"}, {"Gene Name": "Mlh3", "Alleles": "C>T", "rsID": "rs781739661", "AA Change": "R1230H", "Allele Freq gnomAD": "0.025% E. Asians", "Microinjection Results": "3 het founders", "Mouse  Phenotype / Status": "Males infertile; reduced recombination; unpub.", "Other Notes": "Collab w/ Alani Lab", "Researcher": "TNT"}, {"Gene Name": "Mlh1", "Alleles": "T>C", "rsID": "rs63751049", "AA Change": "V326A", "Allele Freq gnomAD": "0.05%", "Microinjection Results": "1 HR edited", "Mouse  Phenotype / Status": "fertile, but reduced fecundity with age, unpub.", "Other Notes": "", "Researcher": "PS"}, {"Gene Name": "Dmc1", "Alleles": "", "rsID": "rs189722264", "AA Change": "G50C", "Allele Freq gnomAD": "Not in gnomAD", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile, unpublished", "Other Notes": "NOT IN GNOMAD. SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Sept12", "Alleles": "C>T", "rsID": "rs142721632", "AA Change": "V222I", "Allele Freq gnomAD": "0.02% Latino", "Microinjection Results": "", "Mouse  Phenotype / Status": "Normally fertile. Unpublished", "Other Notes": "Collab w/ Yu Lab", "Researcher": "TNT"}, {"Gene Name": "Dmc1", "Alleles": "T>C", "rsID": "rs2227914", "AA Change": "M200V", "Allele Freq gnomAD": "12% Africans", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile; normal. doi: 10.1093/hmg/ddy286", "Other Notes": "SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Exo1", "Alleles": "C>A", "rsID": "rs4149964", "AA Change": "S465Y", "Allele Freq gnomAD": "1.3% Africans", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile, unpublished", "Other Notes": "SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Fkbp6", "Alleles": "C>T", "rsID": "rs3750075 ", "AA Change": "F67L", "Allele Freq gnomAD": "3.1% E. Asians", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile, unpublished", "Other Notes": "SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Mlh1", "Alleles": "T>A", "rsID": "rs63750447", "AA Change": "V384D", "Allele Freq gnomAD": "3.6% E. Asians", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile doi: 10.1073/pnas.1506974112", "Other Notes": "SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Mlh3", "Alleles": "G>C", "rsID": "rs28756978", "AA Change": "R93G", "Allele Freq gnomAD": "0.003% Euro", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile; slightly lower sperm. Unpublished", "Other Notes": "SNP from Schimenti list/Collab with Alani Lab", "Researcher": "TNT"}, {"Gene Name": "Msh4", "Alleles": "C>T", "rsID": "rs141042002", "AA Change": "T410M", "Allele Freq gnomAD": "0.4% Africans", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile; unpublished", "Other Notes": "Three alleles under this ID in GNOMAD. SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Sept12", "Alleles": "C>T", "rsID": "rs144420035", "AA Change": "V162M", "Allele Freq gnomAD": "0.05% Euro", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile unpublished", "Other Notes": "Collab w/ Yu Lab", "Researcher": "TNT"}, {"Gene Name": "Smc1b", "Alleles": "G>C", "rsID": "rs61735519", "AA Change": "F1055L", "Allele Freq gnomAD": "5.60%", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile doi: 10.1073/pnas.1506974112", "Other Notes": "SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Tex15", "Alleles": "G>A", "rsID": "rs147871035", "AA Change": "T2181L", "Allele Freq gnomAD": "0.01%", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile doi: 10.1073/pnas.1506974112", "Other Notes": "SNP from Schimenti list", "Researcher": "PS"}, {"Gene Name": "Mnd1", "Alleles": "A>T", "rsID": "rs140107488", "AA Change": "K85M", "Allele Freq gnomAD": "1.6% East Asians", "Microinjection Results": "", "Mouse  Phenotype / Status": "Fertile; all parameters normal. doi: 10.1093/molehr/gaz048", "Other Notes": "SNP from Schimenti list", "Researcher": "TNT"}]