DisGeNET - a database of gene-disease associations

List of associated variants

FRIEDREICH ATAXIA 1, C1856689

Source: BEFREE ×

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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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	230
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	201
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	169
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	118
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	92
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs143396368	FXN	0.807	0.200	9	69072623	missense variant	G/A;C	snv	3.2E-05; 8.0E-06		7
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		5
rs142157346	FXN	0.882	0.160	9	69053240	missense variant	G/T	snv			3
rs104894106	FXN	0.925	0.120	9	69065013	missense variant	A/G;T	snv	4.0E-06		2
rs138034837	FXN	0.925	0.120	9	69072622	missense variant	C/T	snv			2
rs138471431	FXN	0.925	0.120	9	69065016	missense variant	T/C	snv			2
rs104894105	FXN	0.925	0.120	9	69053193	stop gained	T/C;G	snv	1.2E-05		1
rs146818694	FXN	1.000	0.120	9	69064991	missense variant	C/G	snv			1
rs148443992	FXN	1.000	0.120	9	69072686	missense variant	T/G	snv			1