DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Global developmental delay ×

Results per page

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
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			8
rs374993554	TAF6	0.925		7	100113899	missense variant	A/G;T	snv	3.2E-05		3
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1131692228	ACTL6B	0.925	0.160	7	100646637	missense variant	C/T	snv			5
rs1060499738	ACTL6B	1.000		7	100647014	missense variant	C/T	snv		7.0E-06	2
rs1553920383	PPP3CA	0.925		4	101032350	frameshift variant	TC/-	delins			3
rs786203986	NALCN	0.925		13	101176371	missense variant	G/A;C	snv	4.3E-06		1
rs1555268712	GNPTAB	0.882	0.160	12	101757459	coding sequence variant	-/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA	delins			3
rs1060499687	GNPTAB	0.882	0.160	12	101757657	splice acceptor variant	GC/AT	mnv			3
rs1060499739	CEP97	1.000		3	101757754	missense variant	A/G	snv			2
rs1057518776	DYNC1H1	0.925	0.080	14	101986027	missense variant	T/A	snv			4
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv			11
rs1057518961	DYNC1H1	0.925	0.040	14	102012450	missense variant	C/T	snv			5
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs750371878	HACE1	0.925		6	104796666	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs374319146	TBCK	0.851	0.080	4	106194717	splice donor variant	C/A;T	snv	4.3E-06; 8.7E-06		6
rs398122855	PRPS1	0.882	0.240	X	107642384	missense variant	G/C	snv			1
rs80338848	SLC26A4	0.851	0.240	7	107675051	missense variant	T/C	snv	2.7E-04	3.4E-04	4
rs111033212	SLC26A4	0.851	0.240	7	107689054	missense variant	T/A;C	snv	4.0E-06; 8.6E-04		4
rs397514513	LOC107986298 ; CYP2U1	0.882	0.080	4	107945426	missense variant	A/T	snv			4
rs104894421	LIG4	0.882	0.200	13	108210436	missense variant	C/A;T	snv	1.2E-05		1