Gene: DSG2 ×
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: rs397516706
rs397516706
DSG2 ; DSG2-AS1
4 0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2019 2019