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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1801271	CSF1R		5	150054082	missense variant	T/A;C	snv			2
rs2155222			11	76642761	intergenic variant	G/A;T	snv			2
rs3116068	BRMS1 ; RIN1	1.000	11	66337522	3 prime UTR variant	C/T	snv		0.17	2
rs329007	RALBP1		18	9522608	intron variant	G/A	snv		0.79	2
rs34309	PIK3R1		5	68268555	intron variant	G/A	snv		0.29	2
rs369999291	APC		5	112767315	missense variant	G/A	snv			2
rs3792142	REV1		2	99440746	intron variant	C/A;T	snv			2
rs4771249	FLT1		13	28439277	intron variant	G/A;C	snv			2
rs587780076	TP53		17	7673743	missense variant	C/A;T	snv	8.0E-06; 8.0E-06		2
rs587782148	TP53		17	7676113	missense variant	C/T	snv			2
rs587782160	TP53		17	7675221	missense variant	T/A	snv			2
rs756581500	PDGFRA		4	54290319	missense variant	G/A	snv	8.0E-06	1.4E-05	2
rs772468040	FLT3		13	28057413	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs775984846	NTRK1	1.000	1	156881535	missense variant	G/A;C	snv	3.5E-05		2
rs777169839	PPARGC1A		4	23828453	missense variant	T/C;G	snv	2.4E-05		2
rs779151375	SDHA		5	236507	missense variant	A/G	snv	8.0E-06	1.4E-05	2
rs786202055	TP53		17	7673714	frameshift variant	C/-	delins			2
rs786202676	CHEK2		22	28696956	missense variant	T/A;G	snv			2
rs7984952	USPL1		13	30657669	missense variant	T/C	snv	0.41	0.51	2
rs80357107	BRCA1	1.000	17	43045757	missense variant	A/C;T	snv			2
rs876659517	APC		5	112835080	stop gained	C/T	snv			2
rs886040872	CYLD		16	50777915	stop gained	C/A	snv	4.0E-06		2
rs886041332	PTEN		10	87960962	frameshift variant	A/-	del			2
rs1003129577	WDR48		3	39094706	missense variant	G/C	snv			1
rs1020833107	TTF1		9	132398145	synonymous variant	G/A	snv		7.0E-06	1