DisGeNET - a database of gene-disease associations

List of associated variants

Retinal Dystrophies, C0854723

Source: ALL

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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
rs1554857529	CDHR1			10	84211128	missense variant	A/G	snv			1
rs1554998040	CABP4			11	67458613	splice acceptor variant	TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/-	del			1
rs1555036138	MFRP ; C1QTNF5			11	119339507	missense variant	G/A	snv			1
rs1555037395	MFRP ; C1QTNF5			11	119344335	stop gained	G/A	snv			1
rs1555096248	BEST1			11	61950428	splice donor variant	G/T	snv			1
rs1555302200	RPGRIP1	0.925	0.120	14	21326029	frameshift variant	-/TT	delins			4
rs1555792415	PRPF31			19	54122531	frameshift variant	A/-	delins			1
rs1555811525	ABHD12			20	25309577	splice acceptor variant	T/C	snv			1
rs1555870809	COL18A1 ; SLC19A1			21	45494560	stop gained	C/T	snv			1
rs1555874538	SLC19A1 ; COL18A1			21	45504521	frameshift variant	GGCCCCCC/-	del			1
rs1555955061	CHM			X	85965588	intron variant	T/C	snv			2
rs1556297584	PRPS1			X	107628675	missense variant	C/T	snv			1
rs1556300610	PRPS1			X	107645232	missense variant	C/T	snv			1
rs1556300621	PRPS1			X	107645286	missense variant	C/T	snv			2
rs1556318633	RP2	0.925	0.080	X	46853725	missense variant	C/T	snv			3
rs1557106557	CACNA1F	1.000	0.040	X	49212756	missense variant	G/A	snv			2
rs1563329888	RP1	1.000	0.080	8	54625333	stop gained	C/A	snv			2
rs1569235803	RPGR			X	38286052	stop gained	C/A	snv			1
rs1762111	ABCA4	0.851	0.080	1	94021934	missense variant	A/G	snv	1.2E-03	1.3E-03	5
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs1800728	ABCA4	0.807	0.080	1	94011395	intron variant	A/G	snv	2.3E-04	3.0E-04	8
rs199584830	LOC101927157 ; NIPAL1 ; CNGA1	1.000	0.080	4	47936954	stop gained	G/A	snv	5.2E-05	4.9E-05	2
rs199683808	RPE65			1	68448644	missense variant	G/A;C	snv	1.6E-05		1
rs199830550	ARL2BP ; PLLP	1.000		16	57248644	splice donor variant	G/A;C;T	snv	1.2E-04; 4.6E-06; 4.6E-06		2
rs200691042	FAM161A	0.851	0.080	2	61839695	stop gained	T/A	snv	2.8E-04	2.9E-04	5