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: rs2571445
rs2571445
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 2 2017 2019
dbSNP: rs6729330
rs6729330
1 2 217829573 intron variant C/G;T snv 0.700 1.000 1 2019 2019