Rs121434435

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434435(C;T)
Make rs121434435(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1447038
GeneCLCN7
is asnp
is mentioned by
dbSNPrs121434435
Exacrs121434435
PheGenIrs121434435
nextbiors121434435
hapmaprs121434435
1000 genomesrs121434435
hgdprs121434435
ensemblrs121434435
gopubmedrs121434435
geneviewrs121434435
scholarrs121434435
googlers121434435
pharmgkbrs121434435
gwascentralrs121434435
openSNPrs121434435
23andMers121434435
23andMe allrs121434435
SNP Nexus

SNPshotrs121434435
SNPdbers121434435
MSV3drs121434435
OMIM602727
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434435(T;T)
Alt rs121434435(T;T)
Reference rs121434435(C;C)
Significance Pathogenic
Disease Osteopetrosis autosomal dominant type 2 Osteopetrosis autosomal recessive 4
Variation info
Gene CLCN7
CLNDBN Osteopetrosis autosomal dominant type 2 Osteopetrosis autosomal recessive 4
Reversed 1
HGVS NC_000016.9:g.1497039G>A
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000007266.1, RCV000055846.1,