DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO ×

Variants associated to the Gene: CCHCR1 ×

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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
rs1265115	CCHCR1	0.925	0.080	6	31149298	non coding transcript exon variant	C/A;T	snv			5
rs3094187	CCHCR1 ; TCF19	0.925	0.120	6	31159167	5 prime UTR variant	C/T	snv		0.55	5
rs130072	CCHCR1	1.000		6	31144707	missense variant	C/T	snv	0.10	8.4E-02	4
rs3130453	CCHCR1 ; TCF19	1.000		6	31157072	stop gained	C/T	snv	0.47	0.48	4
rs720465	TCF19 ; CCHCR1	1.000		6	31158000	splice region variant	C/A	snv		0.29	4