DisGeNET - a database of gene-disease associations

List of associated variants

RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder), C1969038

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
rs121912745	SLC4A1	0.807	0.200	17	44255708	missense variant	G/A;T	snv			9
rs121912748	SLC4A1	0.790	0.200	17	44253327	missense variant	C/T	snv	4.0E-05	2.1E-05	9
rs121912753	SLC4A1	0.827	0.200	17	44251583	missense variant	A/G	snv			5
rs121912754	SLC4A1	0.882	0.200	17	44255292	missense variant	C/G;T	snv			3
rs557128345	WDR72	0.882	0.240	15	53615520	stop gained	G/A	snv	2.4E-05	7.0E-06	3
rs28931584	SLC4A1	0.925	0.200	17	44257514	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs1376457227	WDR72	0.925	0.200	15	53665757	missense variant	T/C	snv	4.0E-06		2
rs768446132	WDR72	0.925	0.200	15	53615684	missense variant	A/T	snv	8.1E-06		2
rs121912752	SLC4A1	1.000	0.200	17	44251264	inframe deletion	ACC/-	delins	4.0E-06		1