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: rs12988520
rs12988520
3 1.000 0.040 2 233698748 intron variant A/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs17863787
rs17863787
9 0.925 0.040 2 233702448 intron variant T/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs2070959
rs2070959
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.700 1.000 1 2019 2019
dbSNP: rs4148325
rs4148325
11 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs929596
rs929596
9 0.925 0.040 2 233765830 intron variant A/G snv 0.32 0.700 1.000 1 2019 2019