DisGeNET - a database of gene-disease associations

List of associated variants

Muscular hypotonia of the trunk, C1853743

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs587784347	PLA2G6	0.742	0.280	22	38113561	missense variant	G/A	snv	8.0E-06		38
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs1555630216	PIEZO2	0.790	0.160	18	10714931	splice acceptor variant	C/T	snv			22
rs1555648288	PIEZO2	0.790	0.160	18	10795003	splice acceptor variant	C/T	snv			22
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1202430946	IGHMBP2	0.827	0.080	11	68930251	non coding transcript exon variant	C/A;T	snv		1.4E-05	17
rs139455627	TSPEAR	0.851	0.240	21	44531087	stop gained	G/A	snv	3.2E-04	2.7E-04	14
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs869320624	EMC1-AS1 ; EMC1	0.776	0.400	1	19220814	frameshift variant	AAGG/-	delins		1.4E-05	13
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs730882246	ISCA2 ; NPC2	0.807	0.200	14	74494329	missense variant	G/A	snv			8
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs1568925507	KCNQ2	1.000		20	63438654	inframe insertion	-/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC	delins			5