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rs267606656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606656(C;C)
Make rs267606656(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position14716832
GeneANKH, IGKV2-28
is asnp
is mentioned by
dbSNPrs267606656
ebirs267606656
HLIrs267606656
Exacrs267606656
Varsomers267606656
Maprs267606656
PheGenIrs267606656
hapmaprs267606656
1000 genomesrs267606656
hgdprs267606656
ensemblrs267606656
gopubmedrs267606656
geneviewrs267606656
scholarrs267606656
googlers267606656
pharmgkbrs267606656
gwascentralrs267606656
openSNPrs267606656
23andMers267606656
23andMe allrs267606656
SNP Nexus

SNPshotrs267606656
SNPdbers267606656
MSV3drs267606656
GWAS Ctlgrs267606656
Max Magnitude0
ClinVar
Risk rs267606656(C;C)
Alt rs267606656(C;C)
Reference rs267606656(T;T)
Significance Pathogenic
Disease Craniometaphyseal dysplasia
Variation info
Gene LOC100130744 ANKH
CLNDBN Craniometaphyseal dysplasia, autosomal dominant
Reversed 1
HGVS NC_000005.9:g.14716941A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005510.2,