DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

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
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	7
rs10815095	RCL1 ; MIR101-2			9	4848297	intron variant	A/G	snv		0.19	4
rs112233623	CCND3			6	41957260	intron variant	C/T	snv		7.0E-03	5
rs11244669	DHX32 ; BCCIP			10	125844213	intron variant	A/C	snv		0.28	4
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv			13
rs116577908	PLCL2			3	17056907	intron variant	A/G	snv		7.1E-03	4
rs117537850	STKLD1			9	133390145	intron variant	T/C	snv		1.5E-02	3
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv		0.31	5
rs12050884	EIF2AK4			15	40014133	intron variant	C/A	snv		0.25	4
rs12876143	ATP11A			13	112711977	intron variant	T/C	snv		7.7E-02	3
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			11
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs148125759	UGCG			9	111901105	intron variant	T/C	snv		1.0E-02	4
rs1505307	THRB			3	24301839	intron variant	T/C	snv		0.60	7
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8
rs17534202		1.000	0.120	1	203312047	downstream gene variant	G/C	snv		0.40	7
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			15
rs2047007	MFSD2A			1	39962303	intron variant	C/T	snv		0.17	3
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs2251655	TMPRSS6			22	37094652	intron variant	C/T	snv		0.42	4
rs2277339	HSD17B6 ; PRIM1			12	56752285	missense variant	T/G	snv	0.12	0.14	10
rs2526358	TUBD1			17	59865224	intron variant	A/G	snv		0.16	3