DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Generalized hypotonia

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
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs1555639411	BPTF	0.790	0.360	17	67894102	frameshift variant	-/G	delins			10
rs1569190079	PDHA1	0.882	0.160	X	19350044	missense variant	G/T	snv			10
rs796052676	KCNQ3	0.807	0.200	8	132180246	missense variant	G/A	snv			10
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs797045283	ARID1B	0.827	0.320	6	157207109	stop gained	C/T	snv			11
rs886041095	GRIN2B	0.827	0.160	12	13571930	missense variant	C/T	snv			11
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			12
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs1562927768	KMT2E	0.790	0.080	7	105101476	frameshift variant	AAAGA/-	delins			15
rs1555639076	BPTF	0.790	0.400	17	67893677	splice donor variant	A/-	delins			16
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs1561273261	DIMT1 ; KIF2A	0.790	0.160	5	62361307	missense variant	G/A	snv			17
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv			29