DisGeNET - a database of gene-disease associations

List of associated variants

Stickler Syndrome, Type I, Nonsyndromic Ocular, C1836080

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
rs121912893	COL2A1	0.708	0.400	12	47983721	stop gained	G/A;T	snv			15
rs121912874	COL2A1	0.716	0.400	12	47978329	missense variant	G/A	snv			14
rs794727261	COL2A1	0.716	0.400	12	47999953	stop gained	G/T	snv			14
rs121912894	COL2A1	0.925	0.080	12	47993475	missense variant	C/T	snv			2
rs121912872	COL2A1	1.000	0.080	12	47994440	missense variant	C/T	snv			1
rs121912885	COL2A1	1.000	0.080	12	47983435	missense variant	G/A;T	snv	1.6E-05		1
rs121912896	COL2A1	1.000	0.080	12	48000070	stop gained	C/T	snv			1
rs121912897	COL2A1	1.000	0.080	12	48000019	stop gained	G/A;T	snv	3.6E-05		1
rs121912898	COL2A1	1.000	0.080	12	48000041	missense variant	C/T	snv			1