DisGeNET - a database of gene-disease associations

List of associated variants

Huntington Disease, C0020179

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs2742976	E2F2	0.882	0.240	1	23531510	upstream gene variant	T/A;G	snv			3
rs771845093	MFN2	0.925	0.160	1	12005903	missense variant	G/A	snv	8.0E-06	7.0E-06	3
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs568408	IL12A ; IL12A-AS1	0.649	0.600	3	159995680	3 prime UTR variant	G/A	snv		0.16	29
rs7652589		0.732	0.400	3	122170241	downstream gene variant	A/G	snv		0.60	13
rs4918	AHSG	0.763	0.400	3	186620593	missense variant	G/A;C	snv	0.67		12
rs10934657	KALRN	1.000	0.120	3	124093989	intron variant	T/C	snv		0.60	1
rs36117895	ATG7	1.000	0.120	3	11358545	missense variant	T/C	snv	3.2E-02	3.9E-02	1
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs5030732	UCHL1 ; UCHL1-AS1	0.790	0.160	4	41257616	missense variant	C/A	snv	0.24	0.16	10
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs121917767	UCHL1	0.827	0.120	4	41260751	missense variant	C/A;G;T	snv	4.0E-05; 4.0E-06; 2.0E-05		6
rs200161705	NEK1	0.882	0.160	4	169585374	missense variant	C/A;T	snv	6.0E-05; 2.3E-03		5
rs10937921		1.000	0.120	4	3274764	downstream gene variant	C/T	snv		0.40	2
rs189139	SH3BP2	0.925	0.160	4	2831000	intron variant	C/T	snv		0.26	2
rs2798224	MSANTD1	1.000	0.120	4	3265941	intron variant	G/A	snv		0.45	2
rs362272	HTT	1.000	0.120	4	3233253	missense variant	G/A;T	snv	0.29		2
rs363092	HTT	1.000	0.120	4	3194302	intron variant	A/C;T	snv		0.51	2