DisGeNET - a database of gene-disease associations

List of associated variants

Brachydactyly, C0221357

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
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			28
rs1553154130	RERE	0.807	0.280	1	8358231	missense variant	T/A;C	snv			18
rs1555154946	ARID2 ; LOC105369745	0.827	0.120	12	45850644	stop gained	C/T	snv			16
rs1057518907	GNAS	0.732	0.320	20	58891811	stop gained	C/G;T	snv			16
rs1014959895	PRMT7	0.763	0.360	16	68329105	stop gained	G/C;T	snv	4.0E-06; 1.6E-05		16
rs137853027	DYNC2H1	0.827	0.120	11	103220720	missense variant	A/G	snv	2.4E-04	2.6E-04	15
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06		15
rs1555528356	ANKRD11	0.790	0.360	16	89282836	stop gained	G/A	snv			13
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs1057520063	GLI3	0.763	0.200	7	41964641	frameshift variant	-/A	delins			13
rs775769424	BBS1 ; ZDHHC24	0.776	0.280	11	66530934	frameshift variant	TG/-	del		1.4E-05	11
rs863225094	PPP2R1A	0.827	0.160	19	52213076	missense variant	G/A	snv			10
rs886039795	TMEM256-PLSCR3 ; TMEM256	0.851	0.160	17	7403143	frameshift variant	CACTCAGAGCCTGGTAGTAAAA/-	del			10
rs398123425	ATRX	0.776	0.320	X	77688876	missense variant	T/C	snv			9
rs371011047	DYNC2H1	0.882	0.120	11	103120982	stop gained	G/T	snv		2.8E-05	9
rs764926983	DYNC2H1	0.882	0.120	11	103287559	synonymous variant	G/A	snv	1.2E-05		9