DNMT3L, DNA methyltransferase 3 like, 29947

N. diseases: 43; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7354779
rs7354779
0.827 0.200 21 44250887 missense variant T/C snv 0.21
CUI: C0021364
Disease: Male infertility
Male infertility
Male Urogenital Diseases 0.020 1.000 2 2012 2017
dbSNP: rs2070565
rs2070565
0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75
CUI: C0021364
Disease: Male infertility
Male infertility
Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2276248
rs2276248
1.000 0.040 21 44259375 intron variant T/C snv 6.1E-02
CUI: C0021364
Disease: Male infertility
Male infertility
Male Urogenital Diseases 0.010 1.000 1 2012 2012