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rs121908406

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
(TCC;TCC) 0 common in complete genomics
Make rs121908406(-;-)
Make rs121908406(-;TCC)
ReferenceGRCh38 38.1/141
Chromosome5
Position14716722
GeneANKH, IGKV2-28
is asnp
is mentioned by
dbSNPrs121908406
ebirs121908406
HLIrs121908406
Exacrs121908406
Varsomers121908406
Maprs121908406
PheGenIrs121908406
hapmaprs121908406
1000 genomesrs121908406
hgdprs121908406
ensemblrs121908406
gopubmedrs121908406
geneviewrs121908406
scholarrs121908406
googlers121908406
pharmgkbrs121908406
gwascentralrs121908406
openSNPrs121908406
23andMers121908406
23andMe allrs121908406
SNP Nexus

SNPshotrs121908406
SNPdbers121908406
MSV3drs121908406
GWAS Ctlgrs121908406
Max Magnitude0
OMIM605145
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908406(;)
Alt rs121908406(;)
Reference rs121908406(CCT;CCT)
Significance Pathogenic
Disease Craniometaphyseal dysplasia
Variation info
Gene LOC100130744 ANKH
CLNDBN Craniometaphyseal dysplasia, autosomal dominant
Reversed 1
HGVS NC_000005.9:g.14716831_14716833delGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005504.2,