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: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.700 1.000 1 2009 2009
dbSNP: rs4939883
rs4939883
5 1.000 0.040 18 49640844 TF binding site variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs6754295
rs6754295
6 1.000 0.040 2 20983311 regulatory region variant T/G snv 0.27 0.700 1.000 1 2009 2009