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rs267606658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606658(C;C)
Make rs267606658(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position14713637
GeneANKH, IGKV2-28
is asnp
is mentioned by
dbSNPrs267606658
ebirs267606658
HLIrs267606658
Exacrs267606658
Varsomers267606658
Maprs267606658
PheGenIrs267606658
hapmaprs267606658
1000 genomesrs267606658
hgdprs267606658
ensemblrs267606658
gopubmedrs267606658
geneviewrs267606658
scholarrs267606658
googlers267606658
pharmgkbrs267606658
gwascentralrs267606658
openSNPrs267606658
23andMers267606658
23andMe allrs267606658
SNP Nexus

SNPshotrs267606658
SNPdbers267606658
MSV3drs267606658
GWAS Ctlgrs267606658
Max Magnitude0
ClinVar
Risk rs267606658(C;C)
Alt rs267606658(C;C)
Reference rs267606658(T;T)
Significance Pathogenic
Disease Craniometaphyseal dysplasia
Variation info
Gene LOC100130744 ANKH
CLNDBN Craniometaphyseal dysplasia, autosomal dominant
Reversed 1
HGVS NC_000005.9:g.14713746A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005511.2,