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rs878854343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGCACCCACGCCT;CAGCACCCACGCCT) 0 common in clinvar
Make rs878854343(-;-)
Make rs878854343(-;CAGCACCCACGCCT)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position176093213
GeneHOXD13
is asnp
is mentioned by
dbSNPrs878854343
dbSNP (classic)rs878854343
ClinGenrs878854343
ebirs878854343
HLIrs878854343
Exacrs878854343
Gnomadrs878854343
Varsomers878854343
LitVarrs878854343
Maprs878854343
PheGenIrs878854343
Biobankrs878854343
1000 genomesrs878854343
hgdprs878854343
ensemblrs878854343
geneviewrs878854343
scholarrs878854343
googlers878854343
pharmgkbrs878854343
gwascentralrs878854343
openSNPrs878854343
23andMers878854343
SNPshotrs878854343
SNPdbers878854343
MSV3drs878854343
GWAS Ctlgrs878854343
Max Magnitude0
ClinVar
Risk rs878854343(-;-)
Alt rs878854343(-;-)
Reference Rs878854343(CAGCACCCACGCCT;CAGCACCCACGCCT)
Significance Pathogenic
Disease Synpolydactyly 1
Variation info
Gene HOXD13
CLNDBN Synpolydactyly 1
Reversed 0
HGVS NC_000002.11:g.176957941_176957954delCAGCACCCACGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015993.25,