DisGeNET - a database of gene-disease associations

List of associated variants

Microcephaly (physical finding), C4551563

Source: CURATED ×

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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
rs869312704	TBR1	0.882	0.160	2	161423752	frameshift variant	-/GGCTGCA	delins			10
rs748106387	SMARCAL1	0.851	0.240	2	216415427	stop gained	C/A;T	snv	2.8E-05		9
rs1553538917	SATB2	0.882	0.120	2	199272423	stop gained	G/A	snv			7
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs1553370918	MYCN	0.851	0.360	2	15945602	frameshift variant	TG/-	delins			6
rs672601366	KIF1A	0.851	0.120	2	240786339	missense variant	C/G	snv			6
rs369691608	ZNF142 ; BCS1L	1.000	0.160	2	218661255	missense variant	C/T	snv	8.0E-06		5
rs104893648	MYCN	0.882	0.320	2	15945883	missense variant	G/A;T	snv			4
rs1553370260	MYCN ; MYCNOS	0.925	0.320	2	15942129	frameshift variant	-/CGCT	delins			4
rs1558519731	BCL11A	0.925		2	60546204	missense variant	C/G	snv			4
rs367962377	MYCN	1.000	0.320	2	15945716	stop gained	C/A;T	snv	8.0E-06	2.1E-05	2
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
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
rs913477149	RFT1	0.851	0.160	3	53105728	missense variant	T/A;C	snv			13
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
rs869312685	ITPR1	0.807	0.240	3	4815135	missense variant	G/A;C	snv			11
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs1057519436	DHX30	0.882	0.200	3	47846550	missense variant	G/A	snv			7
rs1481733213	ATR	0.851	0.240	3	142568059	splice region variant	T/C	snv			5
rs1553632357	CTNNB1	0.882	0.120	3	41236421	stop gained	G/T	snv			5