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: rs60723330
rs60723330
2 0.925 0.120 17 41612315 missense variant T/C snv 0.800 1.000 1 1995 1995
dbSNP: rs59856285
rs59856285
2 0.925 0.120 17 41612310 missense variant G/A;C snv 0.800 0
dbSNP: rs1555573633
rs1555573633
1 1.000 0.120 17 41610341 protein altering variant CGCCCTCCAGCAGGCGGCGGTAGGTGG/GCC delins 0.700 0
dbSNP: rs267607474
rs267607474
1 1.000 0.120 12 52473220 inframe deletion TTG/- delins 0.700 0
dbSNP: rs267607475
rs267607475
1 1.000 0.120 12 52469684 inframe deletion GCAGCTTGCGGTAGGTGGCGATCTCCA/- delins 0.700 0