DisGeNET - a database of gene-disease associations

List of associated variants

Uterine Cervical Neoplasm, C0007873

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	Num. diseases
rs104894231	LRRC56 ; HRAS	0.776	0.360	11	533467	missense variant	C/G;T	snv		9
rs121917759	HRAS ; LRRC56	0.790	0.480	11	533466	missense variant	G/A	snv		8
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv		9
rs398124146	CREBBP	0.742	0.360	16	3738617	missense variant	G/A;C	snv		12
rs1057519884	CREBBP	0.752	0.240	16	3738616	missense variant	C/A;T	snv		11
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv		26
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv		22
rs747342068	TP53	0.695	0.440	17	7675218	missense variant	T/C;G	snv	4.0E-06	21
rs730882005	TP53	0.701	0.400	17	7674250	missense variant	C/A;G;T	snv	8.0E-06	20
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv		19
rs753660142	TP53	0.708	0.280	17	7673782	missense variant	T/C;G	snv	1.6E-05	19
rs866775781	TP53	0.716	0.440	17	7675216	splice acceptor variant	C/A;G	snv		17
rs587780071	TP53	0.732	0.240	17	7674951	missense variant	G/A	snv		15
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv		14
rs121913468	ERBB2	0.827	0.160	17	39724008	missense variant	G/A;C;T	snv		7
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv		14
rs80338963	SMAD4	0.776	0.280	18	51065548	missense variant	C/A;G;T	snv		11
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv		28
rs11554273	GNAS	0.689	0.240	20	58909365	missense variant	C/A;G;T	snv	4.0E-06	22
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06	24
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv		10
rs1057519889	EP300	0.807	0.200	22	41169525	missense variant	G/A;T	snv		6