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: rs1060499655
rs1060499655
1 1.000 1 244054373 frameshift variant C/- del 0.700 0
dbSNP: rs1064792999
rs1064792999
1 1.000 1 244054357 stop gained C/A;T snv 0.700 0
dbSNP: rs1085307108
rs1085307108
1 1.000 1 244054717 frameshift variant AG/- del 0.700 0
dbSNP: rs1135401770
rs1135401770
2 1.000 1 244053916 stop gained C/G;T snv 0.700 0
dbSNP: rs1553270599
rs1553270599
1 1.000 1 244055075 missense variant T/C snv 0.700 0
dbSNP: rs1553270634
rs1553270634
1 1.000 1 244055218 missense variant C/T snv 0.700 0
dbSNP: rs1553270640
rs1553270640
1 1.000 1 244055267 missense variant A/C snv 0.700 0
dbSNP: rs1558149913
rs1558149913
1 1.000 1 244055165 missense variant G/A snv 0.700 0
dbSNP: rs398122406
rs398122406
1 1.000 1 244054171 stop gained G/T snv 0.700 0
dbSNP: rs750922282
rs750922282
1 1.000 1 244055164 missense variant C/A;T snv 0.700 0
dbSNP: rs797044885
rs797044885
4 0.925 1 244055156 missense variant A/G snv 0.700 0
dbSNP: rs869312689
rs869312689
5 0.925 0.160 1 244053934 missense variant T/C snv 0.700 0
dbSNP: rs875989786
rs875989786
2 1.000 1 244054957 stop gained C/T snv 0.700 0