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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs1553517323	COL5A2	1.000		2	189085204	missense variant	C/A	snv			4
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs797045283	ARID1B	0.827	0.320	6	157207109	stop gained	C/T	snv			11
rs869312697	ARID1B	0.882	0.400	6	157207241	stop gained	C/T	snv			8
rs1443187318	AEBP1	0.882	0.080	7	44108060	stop gained	-/A	delins	1.3E-05		14
rs542489955	LOC105375215 ; FKBP14	0.851	0.120	7	30019110	frameshift variant	-/G	delins	5.5E-04	5.4E-04	6
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins			10
rs1554726245	COL5A1 ; LOC101448202			9	134834982	inframe deletion	ACGCCGAGG/-	delins			4
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		33
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
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