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: rs1520223
rs1520223
2 12 102332560 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs5742692
rs5742692
2 12 102405820 intron variant A/G snv 6.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.700 1.000 1 2019 2019