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: rs1554386687
rs1554386687
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1567871748
rs1567871748
4 1.000 17 39674043 stop gained G/T snv 0.700 1.000 1 2019 2019
dbSNP: rs926027867
rs926027867
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519521
rs1057519521
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0