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
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs772267475	NHLH1	1.000	0.120	1	160370811	missense variant	G/A;C	snv	8.6E-06		1
rs770182236	NME1-NME2 ; NME1	0.925	0.200	17	51155707	missense variant	G/A	snv	6.4E-05	7.0E-06	2
rs1306416169	NSMF	0.851	0.280	9	137453808	missense variant	C/T	snv			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
rs1487309678	SEMA3A	0.851	0.280	7	84014246	missense variant	C/T	snv	8.0E-06		5
rs4752028	SHTN1	0.807	0.200	10	117075480	intron variant	C/T	snv		0.73	6
rs7078160	SHTN1	0.851	0.120	10	117068049	intron variant	G/A	snv		0.19	4
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs306796	STOM	1.000	0.120	9	121365057	intron variant	C/T	snv		0.33	1
rs368136178	TBX22	1.000	0.120	X	80024158	missense variant	G/A;T	snv	5.5E-06; 8.2E-05		1
rs8179096	TIMP2	0.851	0.200	17	78925567	upstream gene variant	G/A;C	snv			4
rs1269636220	WDR11	0.851	0.280	10	120865109	missense variant	A/G	snv			5
rs147680216	WNT10A	0.742	0.160	2	218890244	missense variant	G/A	snv	2.1E-03	6.9E-04	11