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rs121908407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908407(C;C)
Make rs121908407(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position14769145
GeneANKH
is asnp
is mentioned by
dbSNPrs121908407
dbSNP (classic)rs121908407
ClinGenrs121908407
ebirs121908407
HLIrs121908407
Exacrs121908407
Gnomadrs121908407
Varsomers121908407
LitVarrs121908407
Maprs121908407
PheGenIrs121908407
Biobankrs121908407
1000 genomesrs121908407
hgdprs121908407
ensemblrs121908407
geneviewrs121908407
scholarrs121908407
googlers121908407
pharmgkbrs121908407
gwascentralrs121908407
openSNPrs121908407
23andMers121908407
SNPshotrs121908407
SNPdbers121908407
MSV3drs121908407
GWAS Ctlgrs121908407
Max Magnitude0
OMIM605145
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908407(C;C)
Alt rs121908407(C;C)
Reference Rs121908407(T;T)
Significance Pathogenic
Disease Chondrocalcinosis 2
Variation info
Gene ANKH
CLNDBN Chondrocalcinosis 2
Reversed 1
HGVS NC_000005.9:g.14769254A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005505.2,