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: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2015 2015
dbSNP: rs6099128
rs6099128
2 0.925 20 56390288 intron variant T/G snv 0.13 0.010 1.000 1 2015 2015