Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875221
rs281875221
1.000 5 60887479 missense variant C/A snv
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2
0.800 1.000 1 2009 2009
dbSNP: rs372237310
rs372237310
0.925 0.160 5 60887522 splice acceptor variant T/C snv 8.0E-06; 4.0E-06
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2
0.700 0