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: rs117427818
rs117427818
1 16 56976574 intron variant C/T snv 3.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs12720922
rs12720922
6 16 56966973 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs247616
rs247616
8 1.000 0.040 16 56955678 intergenic variant C/T snv 0.29 0.700 1.000 1 2018 2018