DisGeNET - a database of gene-disease associations

List of associated variants

Developmental delay (disorder), C0424605

Source: ALL

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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
rs2076101	APOBEC3F	0.925	0.080	22	39049549	missense variant	G/A	snv	0.52	0.44	3
rs144553163	MAG	0.925	0.080	19	35299590	missense variant	C/T	snv	3.7E-03	3.9E-03	3
rs34832477	TUBGCP2	0.925	0.120	10	133293066	missense variant	G/A	snv	4.0E-04	1.6E-03	3
rs201431517	MTFMT	0.827	0.200	15	65021533	missense variant	G/A	snv	3.5E-04	5.7E-04	17
rs142375870	MAG	0.925	0.080	19	35302594	missense variant	A/C	snv	2.3E-04	2.2E-04	3
rs145536528	SLU7	1.000		5	160413521	missense variant	G/A	snv	1.6E-05	3.5E-05	3
rs367619008	DPYD	0.925	0.080	1	97828160	missense variant	T/C	snv	3.2E-05	3.5E-05	3
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs368085185	NBAS	1.000		2	15539327	missense variant	G/A	snv	1.6E-05	2.1E-05	2
rs730882240	PIGQ	1.000	0.080	16	574693	stop gained	C/T	snv		2.1E-05	3
rs869320624	EMC1-AS1 ; EMC1	0.776	0.400	1	19220814	frameshift variant	AAGG/-	delins		1.4E-05	13
rs751569508	NCOR1	1.000		17	16194473	missense variant	G/A	snv	2.5E-05	1.4E-05	5
rs774753616	PIGT ; LOC107985405	1.000		20	45419351	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs121908869	TSHR ; CEP128	0.882	0.160	14	80955802	missense variant	G/C	snv	4.0E-05	7.0E-06	5
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			32
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs34767364	NBN	0.701	0.280	8	89971232	missense variant	G/A;C	snv	2.5E-03		20