DisGeNET - a database of gene-disease associations

List of associated variants

Depressed nasal bridge, C1836542

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
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1567368243	SIN3A	0.882	0.040	15	75411651	frameshift variant	-/T	delins			9
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs80338701	PMM2	0.776	0.360	16	8811088	stop gained	C/A;T	snv	4.4E-05; 5.4E-06		14
rs190521996	PMM2	0.790	0.320	16	8811660	missense variant	T/C	snv	2.9E-04	4.1E-04	12
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs542652468	ATP1A3	0.882		19	41986177	missense variant	G/A;T	snv			6
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1131692034	EDA	0.790	0.160	X	69616488	stop gained	C/A	snv			14