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: rs28939092
rs28939092
1 1.000 0.080 1 54852372 missense variant T/G snv 4.0E-06 0.800 1.000 2 2001 2011
dbSNP: rs387906939
rs387906939
1 1.000 0.080 1 54883724 missense variant C/T snv 7.0E-06 0.800 1.000 2 2001 2011
dbSNP: rs387906940
rs387906940
1 1.000 0.080 1 54852346 missense variant C/T snv 8.0E-06 0.800 1.000 2 2001 2011
dbSNP: rs119475041
rs119475041
1 1.000 0.080 1 54875134 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.800 0
dbSNP: rs281797256
rs281797256
1 1.000 0.080 1 54865405 missense variant C/G snv 0.700 1.000 2 2001 2011
dbSNP: rs281797257
rs281797257
1 1.000 0.080 1 54865442 missense variant T/G snv 0.700 1.000 2 2001 2011