Gene: DSC2 ×
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: rs193922708
rs193922708
DSC2
1 18 31086683 missense variant G/A;T snv 4.8E-05 0.700 0
dbSNP: rs397517408
rs397517408
DSC2
2 1.000 0.080 18 31093617 frameshift variant G/- del 0.700 0
dbSNP: rs397517404
rs397517404
DSC2
3 0.925 0.080 18 31086694 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs760185784
rs760185784
DSC2
2 18 31089533 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015