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
rs706027	BZW2			7	16660352	intron variant	A/T	snv		0.43	4
rs9423289	C10orf88			10	122945179	intron variant	C/T	snv		0.58	3
rs9972293	C15orf41			15	36578054	upstream gene variant	T/C	snv		0.37	3
rs116272812	CARMIL1			6	25452555	3 prime UTR variant	T/C	snv		8.1E-02	3
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs112233623	CCND3			6	41957260	intron variant	C/T	snv		7.0E-03	5
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			7
rs9394841	CCND3			6	41959197	intron variant	T/C	snv		0.22	3
rs920112	CDCA7			2	173354407	intron variant	G/A	snv		1.0E-01	5
rs35158985	CDH1	0.882	0.080	16	68762843	intron variant	A/G	snv		0.38	6
rs17076726	CPEB4			5	173936886	intron variant	C/T	snv		0.43	3
rs56129102	CUL4A			13	113220766	intron variant	C/T	snv		0.20	3
rs11244669	DHX32 ; BCCIP			10	125844213	intron variant	A/C	snv		0.28	4
rs57565032	EP400			12	131949846	upstream gene variant	G/T	snv		0.14	4
rs13007705	ERFE			2	238160555	intron variant	C/T	snv		0.46	3
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs2272783	FECH	1.000		18	57571588	synonymous variant	A/G	snv	0.12	6.3E-02	5
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs78694551	GPR75-ASB3 ; ASB3			2	53751676	intron variant	A/G;T	snv			3
rs7789162	H2AZ2			7	44833301	intron variant	T/C	snv		0.48	3
rs198851	H4C3			6	26104404	downstream gene variant	T/A;C;G	snv			15
rs10414846	HAMP			19	35281568	intron variant	C/T	snv		0.21	3
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	14
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8