DisGeNET - a database of gene-disease associations

List of associated variants

Abnormal delivery, C0549629

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
rs1564421528	WAC	0.882	0.080	10	28614666	stop gained	C/T	snv			16
rs1555257073	POMP	0.827	0.120	13	28672407	frameshift variant	AT/-	delins			25
rs1565706229	EED ; MIR6755	0.851	0.120	11	86277110	missense variant	T/C	snv			18
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			22
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs121908557	SCN4A ; LOC105371858	0.752	0.280	17	63957514	missense variant	C/T	snv	8.2E-06	1.4E-05	23
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
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
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs1421405659	MYBPC1	0.851	0.360	12	101642529	missense variant	T/C;G	snv			13
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34