DisGeNET - a database of gene-disease associations

List of associated variants

Renal cysts and diabetes syndrome, C0431693

Source: CLINVAR ×

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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
rs193922490	HNF1B	1.000	0.200	17	37739473	missense variant	A/G	snv			1
rs193922491	HNF1B	1.000	0.200	17	37733663	missense variant	G/A;T	snv	1.2E-05		1
rs193922492	HNF1B	1.000	0.200	17	37731691	missense variant	C/A;T	snv	1.2E-05		1
rs193922493	HNF1B	1.000	0.200	17	37731678	missense variant	T/C	snv	8.0E-06	7.0E-06	1
rs529294719	HNF1B	1.000	0.200	17	37733611	missense variant	C/G;T	snv	2.4E-05		1
rs886041820	HNF1B	1.000	0.200	17	37739577	frameshift variant	-/G	delins			1
rs886043813	HNF1B	1.000	0.200	17	37731756	missense variant	C/T	snv			1
rs914046953	HNF1B	1.000	0.200	17	37731787	missense variant	C/T	snv			1
rs1568645768	HNF1B ; LOC105371754	1.000	0.200	17	37710653	stop gained	-/T	delins			1
rs193922482	LOC107985009 ; HNF1B	1.000	0.200	17	37704931	missense variant	A/G	snv		7.0E-06	1