DisGeNET - a database of gene-disease associations

List of associated variants

Trichothiodystrophy Syndromes, C1955934

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
rs41556519	ERCC2	0.807	0.400	19	45352352	missense variant	G/A	snv	6.0E-05	2.8E-05	6
rs121913016	ERCC2	0.827	0.160	19	45357368	missense variant	G/C	snv	1.2E-03	4.4E-04	5
rs121913026	ERCC2	0.851	0.400	19	45352235	missense variant	G/A	snv	2.4E-05	9.1E-05	4
rs376556895	ERCC2	0.851	0.400	19	45352801	missense variant	C/G;T	snv	1.5E-04; 8.0E-06		4
rs121913020	ERCC2	0.882	0.160	19	45368655	missense variant	C/T	snv	2.0E-05	6.3E-05	3
rs121913021	ERCC2	0.882	0.160	19	45352580	missense variant	G/A	snv	2.8E-05	4.2E-05	3
rs762141272	ERCC2	0.882	0.160	19	45352579	missense variant	C/T	snv	1.6E-05	7.0E-06	3
rs121913045	ERCC3	0.882	0.240	2	127292785	missense variant	A/G	snv	4.0E-06		3
rs121913046	ERCC3	0.882	0.240	2	127292726	missense variant	T/G	snv			3
rs747619345	ERCC2	0.925	0.240	19	45365151	missense variant	G/A	snv	8.0E-06		2
rs875989846	GTF2E2	0.925	0.080	8	30612400	missense variant	C/G	snv			2
rs875989847	GTF2E2	0.925	0.080	8	30607141	missense variant	C/A	snv			2
rs900744746	GTF2H3	0.925	0.240	12	123651048	missense variant	C/T	snv			2
rs750323550	GTF2H4	0.925	0.240	6	30909503	missense variant	C/T	snv			2
rs769146546	ERCC2	1.000	0.080	19	45354759	missense variant	C/G;T	snv			1