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rs17073260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17073260(C;T)
Make rs17073260(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position112061120
GeneWISP3
is asnp
is mentioned by
dbSNPrs17073260
ebirs17073260
HLIrs17073260
Exacrs17073260
Varsomers17073260
Maprs17073260
PheGenIrs17073260
hapmaprs17073260
1000 genomesrs17073260
hgdprs17073260
ensemblrs17073260
gopubmedrs17073260
geneviewrs17073260
scholarrs17073260
googlers17073260
pharmgkbrs17073260
gwascentralrs17073260
openSNPrs17073260
23andMers17073260
23andMe allrs17073260
SNP Nexus

SNPshotrs17073260
SNPdbers17073260
MSV3drs17073260
GWAS Ctlgrs17073260
GMAF0.02893
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM603400
DescARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
Variant0004
Relatedalso
Neighborrs1230345
Distance10


ClinVar
Risk rs17073260(T;T)
Alt rs17073260(T;T)
Reference rs17073260(C;C)
Significance Untested
Disease Progressive pseudorheumatoid dysplasia
Variation info
Gene WISP3
CLNDBN Progressive pseudorheumatoid dysplasia
Reversed 0
HGVS NC_000006.11:g.112382323C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000026946.1, SCV000026946.1,



GET Evidence
WISP3-R78C
aa_change Arg78Cys
aa_change_short R78C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.034486
summary