DisGeNET - a database of gene-disease associations

List of shared variants

Triglycerides measurement, C0202236

Disease: Protein C measurement

Source: GWASDB ×

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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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	25
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	24
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	13
rs2068834	ZNF512	0.925	0.120	2	27616672	intron variant	T/C	snv		0.28	10
rs1260333		0.882	0.160	2	27525757	downstream gene variant	A/G	snv		0.58	8
rs1178979	BAZ1B	0.925	0.120	7	73442100	3 prime UTR variant	T/C	snv		0.21	6
rs13022873	ZNF512	0.882	0.120	2	27592643	intron variant	A/C;T	snv			6
rs17145713	BAZ1B	0.925	0.120	7	73490480	intron variant	C/T	snv		0.21	6
rs1919127	C2orf16	0.925	0.120	2	27578626	missense variant	T/C	snv	0.31	0.27	6
rs1919128	C2orf16	0.882	0.120	2	27578892	missense variant	A/G	snv	0.30	0.24	6
rs3749147	GPN1 ; CCDC121	0.882	0.120	2	27629051	missense variant	G/A	snv	0.23	0.20	6