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
ENSG00000269058	CALR3	OTG	EVA	N.A.	N.A.	N.A.	N.A.	N.A.	CG	Orphanet

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Disease/phenotype	Publication	Variant ID	P-value	L2G score	Sample size
Lymphocyte counts	Barton AR et al, 2021	19_16482392_A_G (rs75847259)	3.100e-284	0.658	443762
Lymphocyte counts	Chen MH et al, 2020	19_16517375_G_A (rs28447467)	2.710e-133	0.163	524923
Lymphocyte counts	Vuckovic D et al, 2020	19_16517375_G_A (rs28447467)	1.900e-113	0.0928	408112
Lymphocyte counts	Vuckovic D et al, 2020	19_16300301_A_G	5.200e-105	0.0582	408112
White blood cell count	Vuckovic D et al, 2020	19_16422414_C_CT (rs57143961)	1.700e-76	0.0576	408112
White blood cell count	Chen MH et al, 2020	19_16460318_T_C (rs73511187)	1.820e-74	0.062	562243
White blood cell count	Barton AR et al, 2021	19_16482392_A_G (rs75847259)	1.600e-62	0.653	444734
Lymphocyte counts	Astle WJ et al, 2016	19_16466180_G_T (rs10408945)	5.493e-42	0.157	171643
Neutrophil percentage of white cells	Astle WJ et al, 2016	19_16356948_A_G (rs875622)	1.769e-39	0.0572	171542
Neutrophil percentage of white cells	Vuckovic D et al, 2020	19_16478024_C_A (rs76323852)	1.200e-37	0.113	408112

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Arrhythmogenic right ventricular cardiomyopathy	19_16490519_T_C	rs142951029	NC_000019.10:g.16490519T>C	RCV000157136	likely benign	no assertion criteria provided
Cardiomyopathy	19_16482786_C_CT	rs756560192	NC_000019.10:g.16482788dup	RCV000852752	likely benign	criteria provided, single submitter
Cardiomyopathy	19_16482518_C_T	rs10404156	NC_000019.10:g.16482518C>T	RCV000852751	benign	criteria provided, single submitter
Cardiomyopathy	19_16482687_GGGCTT_CCTGGC	rs1599717620	NC_000019.10:g.16482687_16482692delinsCCTGGC	RCV000852479	uncertain significance	criteria provided, single submitter
Cardiomyopathy	19_16490525_C_G	rs746369368	NC_000019.10:g.16490525C>G	RCV000852753	likely benign	criteria provided, single submitter
Cardiovascular phenotype	19_16482507_C_T	rs118131979	NC_000019.10:g.16482507C>T	RCV000618157	benign	criteria provided, single submitter
Cardiovascular phenotype	19_16496070_G_C	rs370721650	NC_000019.10:g.16496070G>C	RCV000618943	likely benign	criteria provided, single submitter
Cardiovascular phenotype	19_16482535_C_T	rs1247489343	NC_000019.10:g.16482535C>T	RCV000619715	uncertain significance	criteria provided, single submitter
Cardiovascular phenotype	19_16482518_C_T	rs10404156	NC_000019.10:g.16482518C>T	RCV000621757	likely benign	criteria provided, single submitter
Cardiovascular phenotype	19_16479219_C_A	rs140290452	NC_000019.10:g.16479219C>A	RCV000618856	benign	criteria provided, single submitter

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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
hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	AD	Limited

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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	calreticulin 3	germline	Assessed	Assessed

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Genetic disease