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: rs116350678
rs116350678
1 1.000 0.080 16 298233 missense variant C/T snv 4.8E-03 2.3E-02 0.700 0
dbSNP: rs117208012
rs117208012
1 1.000 0.080 16 297063 missense variant C/A;T snv 8.0E-06; 1.6E-02 0.700 0
dbSNP: rs587776627
rs587776627
1 1.000 0.080 16 309973 frameshift variant GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- del 0.700 0
dbSNP: rs779951904
rs779951904
1 1.000 0.080 16 310055 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1805105
rs1805105
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2016 2016