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rs10761129

From SNPedia

Orientationplus
Stabilizedplus
Make rs10761129(C;C)
Make rs10761129(C;T)
Make rs10761129(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position91724039
GeneROR2
is asnp
is mentioned by
dbSNPrs10761129
ebirs10761129
HLIrs10761129
Exacrs10761129
Varsomers10761129
Maprs10761129
PheGenIrs10761129
hapmaprs10761129
1000 genomesrs10761129
hgdprs10761129
ensemblrs10761129
gopubmedrs10761129
geneviewrs10761129
scholarrs10761129
googlers10761129
pharmgkbrs10761129
gwascentralrs10761129
openSNPrs10761129
23andMers10761129
23andMe allrs10761129
SNP Nexus

SNPshotrs10761129
SNPdbers10761129
MSV3drs10761129
GWAS Ctlgrs10761129
GMAF0.2158
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ROR2
allele T
frequency 0.627
sift TOLERATED
HuRef 1103652127483
Disease Association Defects in ROR2 are a cause of recessive Robinow syndrome (RRS) (MIM:268310). RRS is an autosomal disorder characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance.



GET Evidence
ROR2-V819I
aa_change Val819Ile
aa_change_short V819I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.704372
summary



ClinVar
Risk rs10761129(T;T)
Alt rs10761129(T;T)
Reference rs10761129(C;C)
Significance Other
Disease not specified
Variation info
Gene ROR2
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.94486321C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000147389.2,