DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Abnormality of brain morphology ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1060499737	DHX37		12	124968903	missense variant	G/T	snv			3
rs1057521927	PRUNE1	1.000	1	151017860	missense variant	G/A	snv			2
rs1060499734	VARS1	1.000	6	31780935	missense variant	G/A	snv			2
rs1060499735	LOC105374339 ; CPLX1	1.000	4	786584	stop gained	C/A	snv			2
rs1060499763	PIGN	1.000	18	62140447	missense variant	A/C	snv		7.0E-06	2
rs1445957469	TMEM237	1.000	2	201639047	splice acceptor variant	T/C	snv			2
rs1482303814	CPLANE1	1.000	5	37125344	stop gained	C/T	snv		7.0E-06	2
rs1559122277	BBS5	1.000	2	169488115	splice donor variant	G/T	snv			2
rs1562374476	SNX14	1.000	6	85572333	stop gained	A/T	snv			2
rs1568018697	RAC3		17	82032437	missense variant	C/T	snv			2
rs1568018920	RAC3		17	82032785	missense variant	A/T	snv			2
rs200618384	PRUNE1	1.000	1	151024795	stop gained	G/C;T	snv			2
rs767769359	PRUNE1	1.000	1	151024658	missense variant	G/A;C;T	snv	2.0E-05; 8.0E-06		2
rs769369302	VARS1	1.000	6	31779723	missense variant	C/T	snv	4.1E-06	2.1E-05	2
rs773618224	PRUNE1	1.000	1	151018650	missense variant	G/A	snv	5.2E-05	2.8E-05	2
rs773850151	FBXL4	1.000	6	98899353	missense variant	C/G;T	snv	8.0E-06		2
rs869312812	PGAP3	1.000	17	39684627	frameshift variant	G/-;GG	delins			2
rs886037931	PYCR2	1.000	1	225921209	stop gained	G/A	snv	8.0E-06		2
rs972221242	TMEM237	1.000	2	201632186	stop gained	G/A	snv	4.0E-06		2
rs1060499736	SMARCA1		X	129523364	stop gained	G/A	snv			1
rs1060499742	ANK3		10	60071229	missense variant	G/A	snv			1
rs1060499743	ARHGAP21		10	24596030	missense variant	A/C	snv			1
rs1060499745	CDK10		16	89694721	missense variant	C/G;T	snv	5.1E-06		1
rs1060499746	GTF3C1		16	27481179	missense variant	C/G;T	snv	4.0E-06		1
rs1060499747	HELZ		17	67128716	missense variant	T/C	snv			1