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: rs1182196436
rs1182196436
DSG1
2 0.925 0.120 18 31326922 stop gained C/A;T snv 0.700 0
dbSNP: rs1568039793
rs1568039793
DSG1
1 1.000 0.080 18 31326873 splice acceptor variant G/A snv 0.700 0
dbSNP: rs397515639
rs397515639
DSG1
1 1.000 0.080 18 31326608 stop gained C/T snv 0.700 0
dbSNP: rs397515640
rs397515640
DSG1
1 1.000 0.080 18 31331784 stop gained C/A;T snv 0.700 0
dbSNP: rs397515641
rs397515641
DSG1
1 1.000 0.080 18 31329949 stop gained A/T snv 0.700 0
dbSNP: rs398122949
rs398122949
DSG1
1 1.000 0.080 18 31336426 frameshift variant -/C delins 0.700 0
dbSNP: rs398122950
rs398122950
DSG1
1 1.000 0.080 18 31339965 frameshift variant A/- delins 0.700 0
dbSNP: rs398122951
rs398122951
DSG1
1 1.000 0.080 18 31326909 frameshift variant -/T delins 0.700 0