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: rs2912054
rs2912054
3 8 6743971 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2936512
rs2936512
1 8 6741484 intron variant T/C snv 0.76 0.700 1.000 1 2018 2018