DisGeNET - a database of gene-disease associations

List of associated variants

Diastrophic dysplasia, C0220726

Source: CLINVAR ×

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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
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs886039814	WDR19	0.807	0.200	4	39218060	missense variant	C/G	snv			13
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs886039794	LRRCC1 ; LOC105375933	0.851	0.480	8	85109594	splice acceptor variant	G/C	snv			8
rs886039797	BBS2	0.807	0.280	16	56502807	missense variant	A/C	snv	4.0E-06		7
rs786205636	BBS5	0.827	0.320	2	169493750	missense variant	G/A	snv			7
rs886039812	DYNC2H1	0.882	0.160	11	103155395	missense variant	T/G	snv			7
rs764109067	ARL13B	0.851	0.280	3	94036664	missense variant	G/A;T	snv	4.0E-06		6
rs104893915	SLC26A2	0.776	0.200	5	149980428	missense variant	C/T	snv	9.8E-04	1.0E-03	6
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs886039808	CEP290	0.851	0.480	12	88083848	stop gained	C/T	snv			5
rs104893919	SLC26A2	0.851	0.120	5	149978184	stop gained	C/T	snv	1.3E-04	1.2E-04	5
rs104893924	SLC26A2	0.851	0.120	5	149981550	missense variant	T/A	snv	1.1E-04	1.3E-04	5
rs121908077	SLC26A2	0.851	0.120	5	149980603	inframe insertion	TGTTGT/-;TGT;TGTTGTTGT	delins		3.5E-05	5
rs386833492	SLC26A2	0.851	0.120	5	149960981	splice donor variant	T/C	snv		5.4E-04	5
rs386833498	SLC26A2	0.851	0.120	5	149981316	frameshift variant	A/-	delins			5
rs763198695	SLC26A2	0.851	0.120	5	149978135	frameshift variant	TG/-	delins	4.0E-06	7.0E-06	5
rs766836061	SLC26A2	0.851	0.120	5	149981300	stop gained	C/G;T	snv	4.0E-06		5
rs886039810	TMEM67	0.851	0.480	8	93809830	missense variant	G/C	snv			5
rs104893918	SLC26A2	0.851	0.120	5	149981737	missense variant	C/T	snv	3.6E-05	2.8E-05	4
rs1057517461	SLC26A2	0.851	0.120	5	149978353	splice donor variant	T/C	snv			4
rs1057517462	SLC26A2	0.851	0.120	5	149977857	frameshift variant	T/-	delins			4
rs1057517471	SLC26A2	0.851	0.120	5	149980903	frameshift variant	-/T	delins			4
rs1057517474	SLC26A2	0.851	0.120	5	149981546	frameshift variant	ACTG/-	delins			4