DisGeNET - a database of gene-disease associations

List of associated variants

Hyperkeratosis, C0870082

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs587777534	CTSC	0.882	0.160	11	88296207	missense variant	C/G;T	snv	1.6E-05; 4.0E-06		3
rs57837128	KRT1	0.882	0.120	12	52676314	missense variant	A/G	snv			3
rs28928893	KRT14	0.882	0.120	17	41586479	missense variant	A/G	snv			3
rs80358207	GJB4 ; LOC105378642 ; SMIM12	0.925	0.080	1	34761663	missense variant	T/C	snv			2
rs58075662	KRT10 ; TMEM99	0.925	0.120	17	40822119	missense variant	C/A;G;T	snv			2
rs80358206	SMIM12 ; LOC105378642 ; GJB4	0.925	0.080	1	34761665	missense variant	C/A;T	snv	1.7E-04		2
rs774912957	THAP8 ; WDR62	0.925	0.200	19	36054999	missense variant	G/C;T	snv	7.3E-05		2
rs201053854	WDR62	0.925	0.200	19	36058791	missense variant	G/T	snv	6.6E-04	1.6E-04	2
rs1209085120	EIF2AK1 ; AIMP2	1.000	0.080	7	6023402	missense variant	A/G	snv		7.0E-06	1
rs150577396	RNF19A	1.000	0.080	8	100287609	missense variant	C/T	snv	2.0E-05	2.1E-05	1