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: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10947262
rs10947262
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs2294881
rs2294881
3 1.000 0.040 6 32399827 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs2294882
rs2294882
2 6 32399738 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs2294884
rs2294884
1 6 32399482 intron variant T/A;G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs28362680
rs28362680
1 6 32403039 missense variant G/A snv 0.14 0.12 0.700 1.000 1 2013 2013
dbSNP: rs28362683
rs28362683
2 1.000 0.040 6 32405186 synonymous variant G/A snv 0.12 0.10 0.700 1.000 1 2013 2013
dbSNP: rs4248166
rs4248166
2 1.000 0.040 6 32398644 intron variant T/C snv 0.18 0.700 1.000 1 2013 2013