Gene: DSG2 ×
Source: CLINVAR ×
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 1.000 3 2010 2013
dbSNP: rs758537946
rs758537946
DSG2
1 18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2011 2013