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: rs1057520529
rs1057520529
5 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0
dbSNP: rs1114167422
rs1114167422
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs143951267
rs143951267
2 1.000 0.080 12 56042167 start lost A/C;G;T snv 0.700 0
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
dbSNP: rs1568364038
rs1568364038
DCC
1 18 53205308 frameshift variant G/- delins 0.700 0