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rs121908405

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs121908405(-;-)
Make rs121908405(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome5
Position14716716
GeneANKH, IGKV2-28
is asnp
is mentioned by
dbSNPrs121908405
ebirs121908405
HLIrs121908405
Exacrs121908405
Varsomers121908405
Maprs121908405
PheGenIrs121908405
hapmaprs121908405
1000 genomesrs121908405
hgdprs121908405
ensemblrs121908405
gopubmedrs121908405
geneviewrs121908405
scholarrs121908405
googlers121908405
pharmgkbrs121908405
gwascentralrs121908405
openSNPrs121908405
23andMers121908405
23andMe allrs121908405
SNP Nexus

SNPshotrs121908405
SNPdbers121908405
MSV3drs121908405
GWAS Ctlgrs121908405
Max Magnitude0
OMIM605145
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908405(;)
Alt rs121908405(;)
Reference rs121908405(TTC;TTC)
Significance Pathogenic
Disease Craniometaphyseal dysplasia
Variation info
Gene LOC100130744 ANKH
CLNDBN Craniometaphyseal dysplasia, autosomal dominant
Reversed 1
HGVS NC_000005.9:g.14716825_14716827delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005501.2,