DisGeNET - a database of gene-disease associations

List of shared variants

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, C1864498

Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type

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
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