DisGeNET - a database of gene-disease associations

List of associated variants

Relative macrocephaly, C1849075

Source: CLINVAR ×

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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
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs1553284997	DIPK1A ; RPL5	0.790	0.400	1	92833544	splice acceptor variant	G/C	snv			17
rs797045283	ARID1B	0.827	0.320	6	157207109	stop gained	C/T	snv			11
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv			9
rs143814221	GHR	0.882	0.160	5	42711306	missense variant	T/C	snv	2.7E-04	2.3E-04	8
rs1131691804	FBN1	0.807	0.200	15	48463123	missense variant	G/A	snv			6
rs797045141	HERC1	0.882	0.160	15	63696341	splice acceptor variant	T/G	snv			5
rs878854402	TBL1XR1	0.851	0.280	3	177033050	missense variant	T/C	snv			5
rs1567886959	FOXN1	0.882	0.160	17	28534814	frameshift variant	C/-	delins			3
rs531047390	NRXN3	1.000	0.120	14	78968349	splice region variant	A/G	snv	2.0E-04	2.1E-05	2
rs1057519451	NRXN3 ; LOC105370589	1.000	0.120	14	78709310	missense variant	A/G	snv		1.4E-05	2