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: rs1008438
rs1008438
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs562047
rs562047
3 0.882 0.080 6 31816086 missense variant G/C snv 0.16 0.010 1.000 1 2018 2018