Rs121434434

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434434(C;C)
Make rs121434434(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1447040
GeneCLCN7
is asnp
is mentioned by
dbSNPrs121434434
Exacrs121434434
PheGenIrs121434434
nextbiors121434434
hapmaprs121434434
1000 genomesrs121434434
hgdprs121434434
ensemblrs121434434
gopubmedrs121434434
geneviewrs121434434
scholarrs121434434
googlers121434434
pharmgkbrs121434434
gwascentralrs121434434
openSNPrs121434434
23andMers121434434
23andMe allrs121434434
SNP Nexus

SNPshotrs121434434
SNPdbers121434434
MSV3drs121434434
OMIM602727
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434434(C;C)
Alt rs121434434(C;C)
Reference rs121434434(T;T)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 4
Variation info
Gene CLCN7
CLNDBN Osteopetrosis autosomal recessive 4
Reversed 1
HGVS NC_000016.9:g.1497041A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007265.1,