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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
rs635634		0.882	0.160	9	133279427	upstream gene variant	T/A;C	snv			22
rs2954021		1.000	0.040	8	125469835	intron variant	A/G	snv		0.54	15
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv			13
rs2853961				6	31264212	downstream gene variant	G/A	snv		0.38	13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3840870	COL1A1			17	50184820	3 prime UTR variant	-/CTTG	delins			13
rs4837892	TTLL11			9	121826025	intron variant	G/T	snv		0.36	13
rs7296503	PDZRN4			12	41306962	intron variant	C/T	snv		0.57	13
rs76792961	FAM234A			16	243594	intron variant	C/T	snv		7.3E-03	13
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs76428106	FLT3	0.851	0.040	13	28029870	intron variant	T/C;G	snv			10
rs4760	PLAUR	1.000	0.080	19	43648948	missense variant	A/G	snv	0.12	0.11	8
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs12459419	CD33	0.925	0.120	19	51225221	missense variant	C/G;T	snv	0.31		6
rs6475611				9	22151140	intergenic variant	G/A	snv		0.21	6
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv		0.28	5
rs55709272	IL1RN			2	113109711	intron variant	T/A;C	snv			5
rs61745454	CCDC69			5	151187456	missense variant	A/G	snv	3.7E-02	4.6E-02	5
rs34338164	PLEK			2	68388414	missense variant	A/C	snv	8.0E-03	7.8E-03	4
rs41313381	ADGRL4			1	78946283	missense variant	C/A;T	snv	1.9E-02; 3.3E-05		4