DisGeNET - a database of gene-disease associations

List of associated variants

Serum albumin measurement, C0523465

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 GENOME	Num. diseases
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv		27
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv	0.74	25
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv	0.74	22
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv		16
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv	0.22	16
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv	0.23	13
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv	0.63	10
rs1748195	DOCK7	0.851	0.120	1	62583922	intron variant	C/G;T	snv		8
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv	0.39	6
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv	0.57	6
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv		6
rs12042319	DOCK7	1.000	0.040	1	62584148	3 prime UTR variant	G/A	snv	0.36	6
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv	0.57	6
rs583104				1	109278685	downstream gene variant	G/T	snv	0.63	6
rs660240	CELSR2			1	109275216	3 prime UTR variant	T/C	snv	0.75	6
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv		5
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv		5
rs1748197	DOCK7			1	62590441	intron variant	G/A	snv	0.42	5
rs4495740	DOCK7			1	62658794	intron variant	T/G	snv	0.34	5
rs10889332	DOCK7	1.000	0.120	1	62485187	3 prime UTR variant	C/T	snv	0.39	4
rs10889348	DOCK7			1	62612551	intron variant	A/T	snv	0.32	4
rs11207995	DOCK7			1	62583880	intron variant	A/C;G	snv		4
rs1150256	IL24	0.925	0.120	1	206899788	intron variant	G/A	snv	0.40	4
rs12047226	DOCK7			1	62639867	intron variant	T/A;C	snv		4
rs1277930	PSRC1			1	109279521	downstream gene variant	G/A	snv	0.63	4