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
rs886041521	ANKRD11	16	89282157	frameshift variant	-/T	delins	5.2E-05		1
rs1567844992	CHD3	17	7895016	stop gained	G/T	snv			1
rs1567878511	CHD3	17	7910893	frameshift variant	-/GAAC	delins			1
rs1567864750	CHD3 ; SCARNA21	17	7905098	splice acceptor variant	A/G	snv			1
rs879255580	CLCN4	X	10206437	missense variant	T/G	snv			1
rs879255581	CLCN4	X	10206464	missense variant	T/C	snv			1
rs879255582	CLCN4	X	10213705	missense variant	C/T	snv			1
rs879255583	CLCN4	X	10213768	missense variant	C/T	snv			1
rs879255584	CLCN4	X	10220837	missense variant	C/T	snv			1
rs879255585	CLCN4	X	10206756	missense variant	G/A	snv			1
rs879255586	CLCN4	X	10213979	frameshift variant	-/A	delins			1
rs879255590	CLCN4	X	10208595	splice region variant	G/A	snv			1
rs886041088	FMR1	X	147929940	splice region variant	A/C;G;T	snv	1.2E-05		1
rs886041089	FMR1	X	147936614	splice donor variant	G/A	snv			1
rs1553283831	HNRNPU	1	244863711	frameshift variant	-/G	delins			1
rs1569016820	KCNB1 ; LOC105372649	20	49374071	stop gained	C/A	snv			1
rs1565278132	KMT2A	11	118471919	frameshift variant	A/-;AA	delins			1
rs1563831738	KMT2C	7	152315168	stop gained	G/C	snv			1
rs778909076	LARP7	4	112657243	splice acceptor variant	GTTA/-	delins		1.4E-05	1
rs1569017025	LOC105372649 ; KCNB1	20	49374334	missense variant	A/G	snv			1
rs1569017160	LOC105372649 ; KCNB1	20	49374445	missense variant	G/A;T	snv			1
rs1057518772	LOC105372721 ; KCNQ2	20	63433860	missense variant	A/C;G	snv			1
rs1569482153	MED12	X	71134817	missense variant	G/A	snv			1
rs1559855453	MED12L	3	151188468	frameshift variant	-/C	delins			1
rs1560115921	MED12L	3	151390003	stop gained	C/T	snv			1