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rs28939080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939080(A;A)
Make rs28939080(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position14713644
GeneANKH, IGKV2-28
is asnp
is mentioned by
dbSNPrs28939080
ebirs28939080
HLIrs28939080
Exacrs28939080
Varsomers28939080
Maprs28939080
PheGenIrs28939080
hapmaprs28939080
1000 genomesrs28939080
hgdprs28939080
ensemblrs28939080
gopubmedrs28939080
geneviewrs28939080
scholarrs28939080
googlers28939080
pharmgkbrs28939080
gwascentralrs28939080
openSNPrs28939080
23andMers28939080
23andMe allrs28939080
SNP Nexus

SNPshotrs28939080
SNPdbers28939080
MSV3drs28939080
GWAS Ctlgrs28939080
Max Magnitude0
OMIM605145
DescCRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Variant0002
Relatedalso


ClinVar
Risk rs28939080(A;A)
Alt rs28939080(A;A)
Reference rs28939080(G;G)
Significance Pathogenic
Disease Craniometaphyseal dysplasia Chondrocalcinosis 2
Variation info
Gene LOC100130744 ANKH
CLNDBN Craniometaphyseal dysplasia, autosomal dominant Chondrocalcinosis 2
Reversed 1
HGVS NC_000005.9:g.14713753C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005502.2, RCV000032998.2,