DisGeNET - a database of gene-disease associations

Source: UNIPROT

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121964908	AGA	4	177439668	missense variant	G/A	snv	4.0E-06		1
rs192195150	AGA	4	177438770	missense variant	C/T	snv	8.1E-04	5.5E-04	1
rs386833434	AGA	4	177434418	missense variant	G/A	snv	8.0E-06		1
rs386833427	AGA	4	177438848	missense variant	A/G	snv		7.0E-06	1
rs121964904	AGA	4	177438764	missense variant	C/G	snv	7.8E-04	5.4E-04	1
rs74626221	AGA ; LOC285500	4	177442342	missense variant	C/A;G	snv	1.4E-02; 2.0E-05		1
rs606231307	KYNU	2	142960633	missense variant	A/G	snv	1.6E-05		1
rs104893948	MED23 ; ARG1	6	131583392	missense variant	G/A;C	snv	2.0E-05; 8.0E-06		1
rs104893943	MED23 ; ARG1	6	131581326	missense variant	G/T	snv		7.0E-06	1
rs28941474	ARG1	6	131573314	missense variant	T/C	snv	4.0E-06	7.0E-06	1
rs397514504	SARDH	9	133733963	missense variant	C/A;T	snv	4.1E-06		1
rs149481147	SARDH	9	133729820	missense variant	G/A	snv	1.0E-04	5.6E-05	1
rs762773112	MYH9	22	36285158	missense variant	T/C	snv	1.6E-05	7.0E-06	1
rs200901330	MYH9	22	36295650	missense variant	A/G	snv	3.2E-04	4.3E-04	1
rs76368635	MYH9	22	36292132	missense variant	G/A	snv	1.0E-03	1.2E-03	1
rs554332083	MYH9	22	36300961	missense variant	T/G	snv	1.6E-04	2.8E-05	1
rs121913656	MYH9	22	36295526	missense variant	G/A	snv			1
rs25640	HSD17B4	5	119475838	missense variant	G/A;C	snv	0.45		1
rs137853118	SPATA16	3	173019486	missense variant	C/T	snv	3.1E-04	3.1E-04	1
rs104894539	VKORC1	16	31094645	missense variant	C/A	snv	4.3E-06	1.4E-05	1
rs104894541	VKORC1	16	31094558	missense variant	T/C	snv	4.1E-06		1
rs61742245	VKORC1	16	31094624	missense variant	C/A;T	snv	2.4E-03		1
rs104894540	VKORC1	16	31094596	missense variant	A/G	snv			1
rs104894542	PRSS53 ; VKORC1	16	31091243	missense variant	A/C	snv			1
rs72547529	VKORC1	16	31093399	missense variant	C/T	snv	2.0E-04	8.4E-04	1