Source: ALL
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: rs1325804776
rs1325804776
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31386690 frameshift variant G/- del 8.0E-06 0.700 0
dbSNP: rs1462595806
rs1462595806
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31391156 frameshift variant T/- del 7.0E-06 0.700 0
dbSNP: rs1568062215
rs1568062215
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31386820 splice donor variant G/T snv 0.700 0
dbSNP: rs267606775
rs267606775
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31390712 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs267606776
rs267606776
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31391193 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs267606777
rs267606777
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31392200 stop gained C/A;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs786200875
rs786200875
DSG4 ; DSG1-AS1
1 1.000 0.040 18 31409555 frameshift variant -/T delins 0.700 0