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: rs2239760
rs2239760
2 12 120725715 upstream gene variant C/A snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs3794214
rs3794214
1 12 120730442 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs3794215
rs3794215
1 12 120730280 intron variant T/C snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs3914
rs3914
1 12 120737096 synonymous variant T/C snv 0.52 0.52 0.700 1.000 1 2012 2012
dbSNP: rs9204
rs9204
1 12 120739975 3 prime UTR variant A/G snv 0.30 0.700 1.000 1 2012 2012