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: rs121912578
rs121912578
1 1.000 0.120 18 51078285 missense variant G/C snv 0.800 0
dbSNP: rs121912576
rs121912576
1 1.000 0.120 18 51065539 stop gained G/T snv 0.700 0
dbSNP: rs121912577
rs121912577
2 0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs121912579
rs121912579
1 1.000 0.120 18 51078351 stop gained A/T snv 0.700 0
dbSNP: rs281875322
rs281875322
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs377767347
rs377767347
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
dbSNP: rs80338965
rs80338965
5 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0