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: rs121918587
rs121918587
1 1.000 0.040 6 49612506 missense variant C/T snv 4.0E-06 0.800 1.000 4 1996 1999
dbSNP: rs121918589
rs121918589
1 1.000 0.040 6 49606921 missense variant C/A;T snv 4.0E-06 0.800 1.000 4 1996 1999
dbSNP: rs104893987
rs104893987
1 1.000 0.040 6 49612504 missense variant C/T snv 0.700 1.000 4 1996 1999
dbSNP: rs121918586
rs121918586
1 1.000 0.040 6 49619284 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 1996 1999
dbSNP: rs1562011389
rs1562011389
1 1.000 0.040 6 49607202 frameshift variant T/- del 0.700 0
dbSNP: rs1562012617
rs1562012617
1 1.000 0.040 6 49611023 splice donor variant C/T snv 0.700 0
dbSNP: rs1562012697
rs1562012697
1 1.000 0.040 6 49611146 splice acceptor variant C/T snv 0.700 0
dbSNP: rs375508949
rs375508949
1 1.000 0.040 6 49636655 splice donor variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs387906519
rs387906519
1 1.000 0.040 6 49636656 frameshift variant GAGG/TC delins 0.700 0