DisGeNET - a database of gene-disease associations

List of associated variants

Global developmental delay, C0557874

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
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			29
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34