DisGeNET - a database of gene-disease associations

List of associated variants

Range of joint movement increased, C1844820

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		33
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs781565158	PYROXD1	0.851	0.120	12	21452130	missense variant	A/G	snv	4.7E-05	2.1E-05	22
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs1057518083	DYNC1H1	0.851	0.120	14	101986552	missense variant	C/T	snv			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19