Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909084
rs121909084
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		0.800 GeneticVariation UNIPROT Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 10932187 2000
dbSNP: rs121909084
rs121909084
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		0.800 GeneticVariation UNIPROT Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 10932186 2000
dbSNP: rs121909084
rs121909084
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		A 0.800 CausalMutation CLINVAR
dbSNP: rs117134265
rs117134265
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C0003886
Disease:
Arthrogryposis 		T 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs117134265
rs117134265
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C3151520
Disease:
Early severe fetal akinesia sequence 		T 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs145631389
rs145631389
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C0003886
Disease:
Arthrogryposis 		C 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs145631389
rs145631389
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C3151520
Disease:
Early severe fetal akinesia sequence 		C 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs10761129
rs10761129
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10820904
rs10820904
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs267607016
rs267607016
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		A 0.700 CausalMutation CLINVAR A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 19640924 2009
dbSNP: rs121909083
rs121909083
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		A 0.700 CausalMutation CLINVAR Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 10932186 2000
dbSNP: rs104894121
rs104894121
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894122
rs104894122
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909082
rs121909082
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909085
rs121909085
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909086
rs121909086
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909087
rs121909087
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs140213020
rs140213020
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		0.700 GeneticVariation UNIPROT
dbSNP: rs199975149
rs199975149
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		0.700 GeneticVariation UNIPROT
dbSNP: rs267607016
rs267607016
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C3151610
Disease:
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863223289
rs863223289
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863223290
rs863223290
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C3151609
Disease:
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863223290
rs863223290
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863223291
rs863223291
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1849334
Disease:
Robinow syndrome, autosomal recessive 		C 0.700 CausalMutation CLINVAR
dbSNP: rs863223292
rs863223292
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
CUI: C1862112
Disease:
BRACHYDACTYLY, TYPE B1 		A 0.700 CausalMutation CLINVAR