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
ENSG00000153037	SRP19	OTG	EVA	N.A.	N.A.	N.A.	N.A.	N.A.	N.A.	N.A.

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Disease/phenotype	Publication	Variant ID	P-value	L2G score	Sample size
Height	Kichaev G et al, 2018	5_112780372_G_A (rs35130225)	6.000e-25	0.113	458000
Heel bone mineral density	Kichaev G et al, 2018	5_112718389_C_T (rs6864688)	2.000e-14	0.107	446000
Sitting height	NA	5_112823865_A_G (rs2545159)	4.300e-14	0.172	360066
Heel bone mineral density T score	Barton AR et al, 2021	5_112832433_G_C (rs2909787)	1.400e-13	0.358	445855
Heel bone mineral density	Kim SK et al, 2018	5_112718389_C_T (rs6864688)	2.000e-13	0.106	394929
Heel bone mineral density	Morris JA et al, 2018	5_112718389_C_T (rs6864688)	2.700e-13	0.184	426824
Reaction time	de la Fuente J et al, 2020	5_112700937_C_A (rs56335290)	1.000e-12	0.132	330024
Whole body water mass	NA	5_112803191_G_C (rs2952615)	1.324e-12	0.412	354834
Reaction time	Davies G et al, 2018	5_112700937_C_A (rs56335290)	1.968e-12	0.0686	330069
Trunk fat-free mass	NA	5_112803191_G_C (rs2952615)	3.153e-12	0.253	354530

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Familial adenomatous polyposis 1	NA	NA	NC_000005.10:g.112837231_112890913del	RCV002467433	pathogenic	no assertion criteria provided
Familial adenomatous polyposis 1	NA	NA	NC_000005.10:g.112836913_112908314del	RCV000000855	pathogenic	no assertion criteria provided
Inborn genetic diseases	5_112861407_G_A	NA	NC_000005.10:g.112861407G>A	RCV002978288	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	5_112861384_G_A	NA	NC_000005.10:g.112861384G>A	RCV002883454	uncertain significance	criteria provided, single submitter
Severe congenital neutropenia	5_112864533_G_A	rs1322282571	NC_000005.10:g.112864533G>A	RCV001199429	pathogenic	no assertion criteria provided
Shwachman-Diamond syndrome 1	5_112864533_G_A	rs1322282571	NC_000005.10:g.112864533G>A	RCV001199429	pathogenic	no assertion criteria provided

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Disease/phenotype	Study ID	Ancestry	P-value	Sample size
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Disease/phenotype	Allelic Requirement	Genomics England Panel	Confidence category	Literature
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g2p/phenotype	Functional consequence	Allelic requirement	Panel	Confidence	Literature
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Disease/phenotype	Reported protein	Confidence	Literature
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Disease/phenotype	Reported protein	Variant	Confidence	Literature
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Disease/phenotype	Study	Allelic requirement	Classification
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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
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Genetic disease