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: rs1169288
rs1169288
6 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 2 2010 2018
dbSNP: rs2244608
rs2244608
4 0.882 0.160 12 120979185 intron variant A/G snv 0.29 0.800 1.000 1 2012 2017
dbSNP: rs1169302
rs1169302
1 12 120994499 intron variant T/A;G snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2464196
rs2464196
2 0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27 0.700 1.000 1 2012 2012