DisGeNET - a database of gene-disease associations

List of associated variants

Small for gestational age (disorder), C0235991

Source: INFERRED ×

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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
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			49
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs151344517	LOC107985154 ; AFG3L2 ; TUBB6	0.742	0.320	18	12337505	missense variant	C/T	snv			31
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		19
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	19
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13