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: rs1041983
rs1041983
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2306283
rs2306283
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 < 0.001 1 2019 2019
dbSNP: rs117806152
rs117806152
1 14 96214520 intron variant A/C snv 1.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs116561224
rs116561224
2 1.000 0.080 18 66962261 intergenic variant A/G snv 7.4E-02 0.010 < 0.001 1 2017 2017