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rs387906556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906556(A;A)
Make rs387906556(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position33172564
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs387906556
ebirs387906556
HLIrs387906556
Exacrs387906556
Varsomers387906556
Maprs387906556
PheGenIrs387906556
hapmaprs387906556
1000 genomesrs387906556
hgdprs387906556
ensemblrs387906556
gopubmedrs387906556
geneviewrs387906556
scholarrs387906556
googlers387906556
pharmgkbrs387906556
gwascentralrs387906556
openSNPrs387906556
23andMers387906556
23andMe allrs387906556
SNP Nexus

SNPshotrs387906556
SNPdbers387906556
MSV3drs387906556
GWAS Ctlgrs387906556
Max Magnitude0
ClinVar
Risk rs387906556(A;A)
Alt rs387906556(A;A)
Reference rs387906556(G;G)
Significance Pathogenic
Disease Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia
Variation info
Gene
CLNDBN Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia, heterozygous
Reversed 1
HGVS NC_000006.11:g.33140341C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018660.1, RCV000018661.1,