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: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.710 0.500 2 2015 2016
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.010 < 0.001 1 2015 2015