DisGeNET - a database of gene-disease associations

List of associated variants

Premature Birth, C0151526

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
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv			11
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs1553193507	NOTCH2	1.000	0.080	1	119915869	stop gained	G/A	snv			2
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs483352822	RIT1	0.776	0.360	1	155904470	stop lost	C/A;G;T	snv			16
rs869025195	RIT1	0.790	0.280	1	155904493	missense variant	T/G	snv			11
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17
rs797045283	ARID1B	0.827	0.320	6	157207109	stop gained	C/T	snv			11
rs1559810905	IFIH1	0.827	0.240	2	162273810	missense variant	T/A	snv			9
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1564421528	WAC	0.882	0.080	10	28614666	stop gained	C/T	snv			16
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36