DisGeNET - a database of gene-disease associations

List of associated variants

Microcephaly (physical finding), C4551563

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
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs1085307132	SCRIB ; PUF60	0.882	0.160	8	143817668	frameshift variant	-/TTTT	delins			5
rs1085307137	PUF60	0.851	0.160	8	143818408	missense variant	C/T	snv		7.0E-06	5
rs1085307138	PUF60 ; SCRIB	0.807	0.160	8	143817591	splice donor variant	C/T	snv			9
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs1135401758	TUBB2B	0.882	0.080	6	3227511	missense variant	C/G	snv			4
rs113993993	SBDS	0.851	0.040	7	66994210	splice donor variant	A/C;G	snv	4.0E-06; 3.9E-03		9
rs113994152	TSEN54	0.790	0.160	17	75522000	missense variant	G/T	snv	9.0E-04	9.0E-04	11
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1164465811	WWOX	1.000		16	78425056	splice donor variant	G/A;C;T	snv	4.0E-06		2
rs1172486173	MIR6890 ; QARS1	0.882	0.160	3	49099606	missense variant	T/C	snv	4.0E-06		11
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			19
rs119473033	SMARCAL1	0.827	0.320	2	216478216	stop gained	G/T	snv	8.0E-05	1.3E-04	11
rs120074160	SBDS	0.925		7	66994286	stop gained	T/A	snv	1.7E-04	1.0E-03	7
rs1218912272	FLG-AS1 ; FLG	0.925	0.160	1	152314342	stop gained	T/A	snv	4.0E-06		8
rs121908681	PLA2G6	0.851	0.160	22	38120867	missense variant	T/C;G	snv	2.4E-05		7
rs121909123	TCF4	1.000	0.200	18	55228993	missense variant	C/G;T	snv			2
rs121912854	COL7A1	0.851	0.200	3	48592915	stop gained	G/A	snv	1.2E-05	7.0E-06	16
rs121912855	COL7A1	0.851	0.200	3	48575218	missense variant	G/A	snv	2.0E-05	7.0E-06	16
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs137853066	KCNJ10	0.827	0.320	1	160042339	missense variant	C/G;T	snv	8.0E-06		7
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13