DisGeNET - a database of gene-disease associations

List of associated variants

Parathyroid Neoplasms, C0030521

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
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv			14
rs121434264	LOC101929160 ; CDC73	0.851	0.080	1	193125171	missense variant	T/C	snv			6
rs794728648	MEN1	0.925	0.120	11	64808078	missense variant	C/A;T	snv			4
rs971586985	CDC73	1.000	0.160	1	193212458	missense variant	G/A;T	snv	4.0E-06	2.1E-05	3
rs386134259	MEN1	1.000	0.120	11	64807577	stop gained	G/A;C;T	snv			2
rs1480444018	SAMD4B ; PAF1			19	39386149	missense variant	T/C	snv			2
rs879647	SDHAF2			11	61437962	intron variant	G/A;C	snv	0.83		1