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: rs1131275
rs1131275
2 1.000 0.040 6 31356183 missense variant G/A;C snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs114274203
rs114274203
2 1.000 0.040 6 31300843 intron variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115283957
rs115283957
2 1.000 0.040 6 31308658 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs115437294
rs115437294
2 1.000 0.040 6 31345265 intron variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs116427960
rs116427960
3 0.925 0.120 6 31351449 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2507989
rs2507989
2 1.000 0.040 6 31356638 non coding transcript exon variant A/C;T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs36057735
rs36057735
2 1.000 0.040 6 31352146 intron variant C/G snv 0.14 0.700 1.000 1 2017 2017