DisGeNET - a database of gene-disease associations

List of shared variants

Hyperparathyroidism, Primary, C0221002

Disease: Kidney Calculi

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
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs1801726	CASR	0.732	0.280	3	122284985	missense variant	G/C	snv	0.95	0.92	13
rs7652589		0.732	0.400	3	122170241	downstream gene variant	A/G	snv		0.60	13
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