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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10758656	RCL1			9	4852599	intron variant	A/G	snv		0.19	7
rs10947997	CCND3			6	41953503	intron variant	G/T	snv		0.13	4
rs113809617	TMEM203 ; NDOR1			9	137205865	missense variant	C/G	snv	0.13	0.12	5
rs11735662				4	144104973	intron variant	C/T	snv		2.1E-02	3
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv		0.31	5
rs1193	RMND5A			2	86775106	3 prime UTR variant	C/T	snv		0.68	2
rs13008603	PRKCE			2	46128709	intron variant	C/A	snv		0.10	5
rs1357529	PLS1 ; LOC105374136			3	142632255	intron variant	T/A;C;G	snv			2
rs140522	ODF3B	0.851	0.160	22	50532837	upstream gene variant	T/A;C	snv			11
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	6
rs149489081	ANK1			8	41732218	intron variant	T/G	snv		5.8E-03	2
rs1505307	THRB			3	24301839	intron variant	T/C	snv		0.60	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
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv		0.28	5
rs218265				4	54542832	intergenic variant	T/C	snv		0.21	10
rs2227930	ATR			3	142558733	synonymous variant	A/T	snv	0.55	0.63	3
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv		0.62	5
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs3817621	KLF1			19	12887391	upstream gene variant	G/C;T	snv		0.25	2
rs3896594	LOC105373411			2	8622284	intron variant	T/G	snv		0.50	2
rs415895	SWAP70			11	9748015	missense variant	C/G	snv	0.62	0.61	6
rs4434553	TFR2	1.000	0.040	7	100642568	intron variant	A/G	snv		0.40	5
rs4737010	ANK1			8	41772929	intron variant	G/A	snv		0.32	6