DisGeNET - a database of gene-disease associations

List of associated variants

Strudwick syndrome, C0700635

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
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
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
rs121912880	COL2A1	0.882	0.080	12	47986353	missense variant	C/A;T	snv			4
rs1553667072	FN1	0.882	0.200	2	215433372	missense variant	A/G	snv			3
rs1181638652	FN1	0.925	0.160	2	215430725	missense variant	G/A;C	snv	1.2E-05	7.0E-06	2
rs1553658926	FN1	0.925	0.160	2	215428246	missense variant	A/C	snv			2
rs1553659131	FN1	0.925	0.160	2	215428306	missense variant	A/C	snv			2
rs1553669703	FN1 ; LOC105373868	0.925	0.160	2	215434713	missense variant	C/A	snv			2
rs111033553	NT5DC1 ; COL10A1	0.925	0.080	6	116120332	missense variant	C/T	snv			2
rs121912871	COL2A1	1.000	0.080	12	47989769	missense variant	C/T	snv			1
rs121912881	COL2A1	1.000	0.080	12	47986388	missense variant	C/A	snv			1
rs121912895	COL2A1	1.000	0.080	12	47978320	missense variant	T/C	snv			1
rs121912875	COL2A1 ; LOC105369752	1.000	0.080	12	47979519	missense variant	C/A	snv			1
rs1064795155	FN1	1.000	0.080	2	215428331	missense variant	G/C	snv			1
rs1559604072	FN1	1.000	0.080	2	215430762	missense variant	C/T	snv			1
rs1559609410	FN1	1.000	0.080	2	215431874	missense variant	C/T	snv			1
rs1559616744	FN1	1.000	0.080	2	215433371	missense variant	C/T	snv			1