RBPWorld - a comprehensive database of RNA Binding Proteins

Genetic disease

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Ensembl ID	Gene symbol	Open Targets Genetics	Clinvar	Gene Burden	Genomics england panel	Gene2Phenotype	UniProt literature	Uniprot variants	Clingen	Orphanet
ENSG00000125630	POLR1B	OTG	EVA	N.A.	GEP	N.A.	UL	N.A.	N.A.	Orphanet

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Disease/phenotype	Publication	Variant ID	P-value	L2G score	Sample size
Smoking initiation (ever regular vs never regular) (MTAG)	Liu M et al, 2019	2_112482606_T_C (rs3811038)	3.000e-18	0.117	1359002
Smoking initiation (ever regular vs never regular)	Liu M et al, 2019	2_112482606_T_C (rs3811038)	2.000e-11	0.115	1232091
Age of smoking initiation (MTAG)	Liu M et al, 2019	2_112482606_T_C (rs3811038)	1.000e-10	0.114	931815
Lifetime smoking index	Wootton RE et al, 2019	2_112482606_T_C (rs3811038)	9.000e-10	0.117	462690
Externalizing behaviour (multivariate analysis)	Karlsson Linner R et al, 2021	2_112476739_C_T (rs7581524)	1.000e-09	0.117	1492085
Externalizing behaviour (multivariate analysis)	Karlsson Linner R et al, 2021	2_112476739_C_T (rs7581524)	1.000e-09	0.117	1492085
Externalizing behaviour (multivariate analysis)	Karlsson Linner R et al, 2021	2_112476739_C_T (rs7581524)	1.000e-09	0.117	1492085
Alcohol consumption (drinks per week) (MTAG)	Liu M et al, 2019	2_112476739_C_T (rs7581524)	2.000e-09	0.117	1039210
Smoking initiation (ever regular vs never regular) [Conditioned on chr2:113240183]	Liu M et al, 2019	2_112488859_C_T (rs75210106)	2.000e-08	0.193	1232091
Smoking status (ever vs never smokers)	Karlsson Linner R et al, 2019	2_112570466_A_G (rs3980078)	3.000e-08	0.467	518633

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Inborn genetic diseases	2_112568845_T_A	NA	NC_000002.12:g.112568845T>A	RCV002739399	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112564454_T_A	NA	NC_000002.12:g.112564454T>A	RCV002767690	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112551881_T_C	NA	NC_000002.12:g.112551881T>C	RCV002657336	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112559565_T_G	NA	NC_000002.12:g.112559565T>G	RCV002977539	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112551784_A_G	NA	NC_000002.12:g.112551784A>G	RCV002798412	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112551782_T_C	NA	NC_000002.12:g.112551782T>C	RCV002998582	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112547049_G_T	NA	NC_000002.12:g.112547049G>T	RCV002683176	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112575214_A_G	NA	NC_000002.12:g.112575214A>G	RCV002980266	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112547135_G_A	NA	NC_000002.12:g.112547135G>A	RCV002883609	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	2_112559440_C_T	NA	NC_000002.12:g.112559440C>T	RCV002739925	uncertain significance	criteria provided, single submitter

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Disease/phenotype	Study ID	Ancestry	P-value	Sample size
No data available in table

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Disease/phenotype	Allelic Requirement	Genomics England Panel	Confidence category	Literature
treacher collins syndrome 4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Clefting	green	1
treacher collins syndrome 4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Skeletal dysplasia	green	1
Treacher-Collins syndrome 4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Clefting	green	1
Treacher-Collins syndrome 4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Skeletal dysplasia	green	1
Treacher-Collins syndrome 4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Fetal anomalies	green	1

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g2p/phenotype	Functional consequence	Allelic requirement	Panel	Confidence	Literature
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Disease/phenotype	Reported protein	Confidence	Literature
Treacher Collins syndrome 4	Q9H9Y6	high	31649276

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Disease/phenotype	Reported protein	Variant	Confidence	Literature
No data available in table

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Disease/phenotype	Study	Allelic requirement	Classification
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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
Treacher-Collins syndrome	RNA polymerase I subunit B	germline	Assessed	Assessed

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Genetic disease