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: rs10484879
rs10484879
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1342913
rs1342913
4 0.851 0.040 1 190151895 intron variant G/A snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2019 2019
dbSNP: rs2073617
rs2073617
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2016 2016
dbSNP: rs2277438
rs2277438
5 0.827 0.160 13 42581032 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs9533156
rs9533156
8 0.807 0.280 13 42573535 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013