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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs397514698	GNAQ	0.667	0.400	9	77797577	missense variant	C/T	snv			41
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
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			29
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17