DisGeNET - a database of gene-disease associations

List of associated variants

Cleft palate with cleft lip, C0158646

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
rs17820943	LOC102724968	0.925	0.120	20	40639876	regulatory region variant	C/T	snv		0.36	2
rs11696257	LOC102724968	0.882	0.240	20	40642176	regulatory region variant	C/T	snv		0.36	3
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs12532	MSX1	0.790	0.200	4	4863419	3 prime UTR variant	A/G	snv		0.36	10
rs770182236	NME1-NME2 ; NME1	0.925	0.200	17	51155707	missense variant	G/A	snv	6.4E-05	7.0E-06	2
rs227731		0.882	0.120	17	56695877	intergenic variant	T/A;G	snv			4
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs7224837	AXIN2	0.925	0.200	17	65532005	intron variant	G/A	snv		0.89	2
rs3923086	AXIN2	0.925	0.200	17	65553370	intron variant	A/C;G	snv		0.41	2
rs876658146	CDH1	0.882	0.200	16	68815743	missense variant	A/G	snv			3
rs757422353	CDH1	0.882	0.200	16	68823432	missense variant	C/G	snv	4.0E-06		3
rs8179096	TIMP2	0.851	0.200	17	78925567	upstream gene variant	G/A;C	snv			4
rs368136178	TBX22	1.000	0.120	X	80024158	missense variant	G/A;T	snv	5.5E-06; 8.2E-05		1
rs1487309678	SEMA3A	0.851	0.280	7	84014246	missense variant	C/T	snv	8.0E-06		5
rs4791331	NTN1	0.925	0.120	17	9028765	intron variant	C/T	snv		0.53	3
rs7850258	PTCSC2	0.827	0.200	9	97786731	intron variant	A/G	snv		0.72	6
rs3758249	PTCSC2 ; FOXE1	0.882	0.200	9	97851858	intron variant	T/C	snv		0.63	3
rs4460498		0.925	0.120	9	97858130	downstream gene variant	T/C	snv		0.63	2