Source: ALL

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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2007 2007
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2007 2007
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2007 2007
dbSNP: rs28931593
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 < 0.001 1 2005 2005
dbSNP: rs746702110
rs746702110
OGG1
0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2007 2007
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0022593
Disease: Keratosis
Keratosis 		0.010 1.000 1 2006 2006