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: rs12603582
rs12603582
2 1.000 0.040 17 47300211 intron variant G/T snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs2317385
rs2317385
1 1.000 0.040 17 47252316 upstream gene variant G/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs55827077
rs55827077
1 1.000 0.040 17 47253717 upstream gene variant G/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs5918
rs5918
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 1.000 1 2017 2017