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: rs1064794709
rs1064794709
DSG2 ; DSG2-AS1
1 1.000 0.040 18 31546340 frameshift variant T/- delins 0.700 0
dbSNP: rs121913013
rs121913013
DSG2
2 0.925 0.080 18 31519887 missense variant G/A snv 1.9E-03 1.8E-03 0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
4 0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs553299589
rs553299589
DSG2
2 0.925 0.080 18 31521244 splice donor variant G/A;C;T snv 4.2E-06; 1.3E-05; 4.2E-06 0.700 0