DisGeNET - a database of gene-disease associations

List of associated variants

Neonatal respiratory distress, C4281993

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs1565679039	COL2A1	0.701	0.400	12	47983399	stop gained	T/A	snv			45
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
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
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
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
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs543860009	TTN-AS1 ; TTN	0.742	0.320	2	178589003	stop gained	G/A;T	snv			33
rs878854378	TTN ; TTN-AS1	0.742	0.320	2	178533657	inframe deletion	GTT/-	delins			33
rs151344517	LOC107985154 ; AFG3L2 ; TUBB6	0.742	0.320	18	12337505	missense variant	C/T	snv			31
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv			24
rs1563221666	SFTPC	0.882	0.120	8	22162694	missense variant	C/T	snv			14