DisGeNET - a database of gene-disease associations

List of shared variants

Microcephaly (physical finding), C4551563

Disease: Strabismus

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
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs913477149	RFT1	0.851	0.160	3	53105728	missense variant	T/A;C	snv			13
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06		11
rs185476065	MIR6890 ; QARS1	0.882	0.160	3	49100222	missense variant	G/A;C;T	snv	8.0E-05; 4.0E-06		11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs1057518681	PUF60 ; SCRIB	0.827	0.200	8	143816821	splice acceptor variant	T/C	snv			7
rs1057519436	DHX30	0.882	0.200	3	47846550	missense variant	G/A	snv			7
rs1556912828	HUWE1	0.925	0.280	X	53536209	missense variant	G/C	snv			6
rs730882198	SPART	0.851	0.200	13	36314259	frameshift variant	-/T	delins	1.2E-05		6