DisGeNET - a database of gene-disease associations

List of associated variants

Coarse facial features, C1845847

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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs137854544	CTSA	0.827	0.320	20	45894040	missense variant	T/A	snv	3.6E-05	4.9E-05	10
rs281864996	GNPTAB	0.807	0.280	12	101764363	frameshift variant	CTTTT/-;CTTTTCTTTT	delins	2.8E-05	7.0E-06	10
rs1057518644	HGSNAT	0.925	0.120	8	43192413	stop gained	C/T	snv			10
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs875989777	CTSA	0.851	0.320	20	45894704	frameshift variant	AT/-	delins			9
rs483352897	NAGLU	0.882	0.280	17	42537517	frameshift variant	CGGCCAGGAG/-	delins	1.2E-05	2.8E-05	9
rs1057518913	EHMT1	0.851	0.320	9	137762822	splice donor variant	T/C	snv			7
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7
rs1555269154	GNPTAB	0.851	0.280	12	101761307	frameshift variant	-/CTTTGTGA	delins			7
rs1060499681	GNPTAB	0.882	0.200	12	101764303	frameshift variant	C/-	del			6
rs112543062	GNPTAB	0.851	0.280	12	101770161	missense variant	T/C;G	snv	1.2E-05		6
rs397507562	GNPTAB	0.851	0.240	12	101757311	splice acceptor variant	C/G;T	snv			6
rs1555271865	GNPTAB	0.925	0.160	12	101786204	frameshift variant	-/T	delins			5