DisGeNET - a database of gene-disease associations

List of associated variants

Taurodontism, C0266039

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
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs139455627	TSPEAR	0.851	0.240	21	44531087	stop gained	G/A	snv	3.2E-04	2.7E-04	14
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14
rs370270828	BRF1	0.882	0.160	14	105241292	missense variant	G/A	snv	8.0E-06	2.8E-05	7
rs373957300	BRF1	0.882	0.160	14	105228832	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs606231416	BRF1	0.882	0.160	14	105241282	missense variant	G/A	snv	8.1E-06		7
rs606231450	BRF1	0.882	0.160	14	105226674	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		7
rs1057518764	DLX3	0.827	0.200	17	49991807	frameshift variant	C/-;CC	delins			6
rs1555617226	DLX3	0.851	0.160	17	49993440	missense variant	C/A	snv			4
rs142343894	GREM2	0.851	0.080	1	240493250	missense variant	G/C	snv	1.7E-03	1.8E-03	4