Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2010 2015
dbSNP: rs10012
rs10012
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10175368
rs10175368
4 0.925 0.080 2 38080719 intron variant C/T snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs1056827
rs1056827
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1204382931
rs1204382931
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs2567206
rs2567206
7 0.827 0.200 2 38076389 non coding transcript exon variant G/A snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs2567207
rs2567207
2 2 38076500 non coding transcript exon variant A/G snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs760025060
rs760025060
10 0.776 0.200 2 38074936 missense variant C/T snv 0.010 < 0.001 1 2015 2015