DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
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
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
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
rs2853961		6	31264212	downstream gene variant	G/A	snv		0.38	13
rs3123543	ATF3	1	212617344	intron variant	T/A;C	snv			13
rs3208787	NPLOC4	17	81558634	3 prime UTR variant	A/G	snv		0.24	4
rs35188965	SLC12A7	5	1104823	intron variant	C/G;T	snv			12