DisGeNET - a database of gene-disease associations

List of associated variants

Hyperparathyroidism, Primary, C0221002

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
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		33
rs79658334	RET	0.662	0.360	10	43119548	missense variant	G/A;C;T	snv	1.2E-04; 4.3E-06		29
rs1223231582	PRSS1	0.677	0.280	7	142750639	missense variant	A/G	snv		7.0E-06	24
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		23
rs2073618	COLEC10 ; TNFRSF11B	0.716	0.480	8	118951813	missense variant	G/C	snv	0.52	0.60	19
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv			14
rs7652589		0.732	0.400	3	122170241	downstream gene variant	A/G	snv		0.60	13
rs1801726	CASR	0.732	0.280	3	122284985	missense variant	G/C	snv	0.95	0.92	13
rs3102735	COLEC10 ; TNFRSF11B	0.752	0.400	8	118952831	upstream gene variant	T/C	snv		0.17	12
rs111033565	PRSS1	0.742	0.120	7	142751938	missense variant	G/A	snv	1.2E-05		11
rs111033566	PRSS1	0.742	0.280	7	142750600	missense variant	A/C;T	snv			11
rs267606982	PRSS1	0.742	0.120	7	142751938	missense variant	GC/AT	mnv			11
rs777418530	CRISPLD2	0.763	0.120	16	84845883	missense variant	A/G	snv	4.0E-06	7.0E-06	10
rs756322971	CASR	0.763	0.240	3	122284955	missense variant	C/A;G	snv			9
rs1501899	CASR	0.790	0.240	3	122188481	intron variant	A/G	snv		0.62	8
rs61734659	PRSS2	0.790	0.160	7	142774035	missense variant	G/A	snv		1.4E-02	8
rs748405415	PRSS2	0.790	0.160	7	142773993	stop gained	G/A;T	snv			8
rs146646971	RET	0.807	0.120	10	43114598	missense variant	G/C;T	snv	2.4E-05		7
rs76371115	CFTR	0.807	0.160	7	117531041	missense variant	A/C;G;T	snv	8.0E-06		6
rs1555166368	MEN1	0.851	0.120	11	64809738	frameshift variant	GA/-	del			6
rs397508687	CFTR	0.827	0.080	7	117531040	frameshift variant	-/GA	ins	4.0E-06		5