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: rs758175953
rs758175953
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 0.700 0
dbSNP: rs78683075
rs78683075
1 1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04 0.700 0
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1010980331
rs1010980331
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1060502375
rs1060502375
3 0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131690838
rs1131690838
3 0.925 0.120 17 17228135 frameshift variant C/- del 0.010 1.000 1 2019 2019
dbSNP: rs756787389
rs756787389
2 0.925 0.120 17 17219129 missense variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs879255658
rs879255658
3 0.882 0.160 17 17228135 start lost C/G snv 0.010 1.000 1 2019 2019