DisGeNET - a database of gene-disease associations

Disease: Absent reflex

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	Num. diseases
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv	37
rs1555630216	PIEZO2	0.790	0.160	18	10714931	splice acceptor variant	C/T	snv	22
rs1555648288	PIEZO2	0.790	0.160	18	10795003	splice acceptor variant	C/T	snv	22