DisGeNET - a database of gene-disease associations

List of associated variants

Decreased liver function, C0232744

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
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs1554785242	ADAMTS13	0.882	0.160	9	133426240	missense variant	G/T	snv			8
rs1554791280	ADAMTS13	0.882	0.160	9	133442718	missense variant	T/C	snv			8
rs768849283	PRF1	0.882	0.040	10	70600517	missense variant	C/G	snv	6.8E-05		7