Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794729656
rs794729656
XPC
1.000 0.160 3 14168389 intron variant A/G;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs794729657
rs794729657
XPC
1.000 0.160 3 14168404 intron variant T/C;G snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs121965088
rs121965088
XPC
1.000 0.160 3 14158148 stop gained G/A snv 1.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 4 2000 2015
dbSNP: rs745679643
rs745679643
XPC
1.000 0.160 3 14165549 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 3 2000 2015
dbSNP: rs754775337
rs754775337
XPC ; LOC107986063
1.000 0.160 3 14148912 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 3 2000 2015
dbSNP: rs757958943
rs757958943
XPC
0.925 0.160 3 14158640 stop gained G/A snv 1.2E-05 4.9E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 3 2010 2016
dbSNP: rs373519125
rs373519125
XPC
1.000 0.160 3 14164836 stop gained G/A;T snv 1.6E-05; 1.6E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2016 2017
dbSNP: rs374117852
rs374117852
XPC
0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2013
dbSNP: rs746250060
rs746250060
XPC
1.000 0.160 3 14158319 stop gained T/A;C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2015
dbSNP: rs767569346
rs767569346
XPC
1.000 0.160 3 14158206 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2013 2015
dbSNP: rs764321665
rs764321665
XPC
1.000 0.160 3 14165468 stop gained G/A snv 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2013 2013
dbSNP: rs1281090187
rs1281090187
XPC ; LOC107986063
1.000 0.160 3 14148665 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553605023
rs1553605023
XPC
1.000 0.160 3 14152349 stop gained C/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553608637
rs1553608637
XPC ; LSM3
1.000 0.160 3 14178514 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs754197041
rs754197041
XPC
1.000 0.160 3 14158502 stop gained C/A;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs770308917
rs770308917
XPC ; LOC107986063
1.000 0.160 3 14148846 stop gained C/A;T snv 4.0E-06; 8.0E-06; 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs867461743
rs867461743
XPC
1.000 0.160 3 14159773 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs975121308
rs975121308
XPC
1.000 0.160 3 14165427 splice donor variant C/A;T snv 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2013 2013
dbSNP: rs1423398589
rs1423398589
XPC ; LSM3
1.000 0.160 3 14178465 splice donor variant C/A;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553607744
rs1553607744
XPC
1.000 0.160 3 14172866 splice donor variant C/T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553608616
rs1553608616
XPC ; LSM3
1.000 0.160 3 14178464 splice donor variant A/C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1559374923
rs1559374923
XPC
1.000 0.160 3 14158010 splice donor variant C/G snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs764480429
rs764480429
XPC
1.000 0.160 3 14156334 splice donor variant C/T snv 4.0E-06 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs794729655
rs794729655
XPC
1.000 0.160 3 14156333 splice donor variant A/C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs754532049
rs754532049
XPC
0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 4 2008 2010