Rs121434436

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434436(A;T)
Make rs121434436(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1457295
GeneCLCN7
is asnp
is mentioned by
dbSNPrs121434436
Exacrs121434436
PheGenIrs121434436
nextbiors121434436
hapmaprs121434436
1000 genomesrs121434436
hgdprs121434436
ensemblrs121434436
gopubmedrs121434436
geneviewrs121434436
scholarrs121434436
googlers121434436
pharmgkbrs121434436
gwascentralrs121434436
openSNPrs121434436
23andMers121434436
23andMe allrs121434436
SNP Nexus

SNPshotrs121434436
SNPdbers121434436
MSV3drs121434436
Max Magnitude0
OMIM602727
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434436(T;T)
Alt rs121434436(T;T)
Reference rs121434436(A;A)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 4
Variation info
Gene CLCN7
CLNDBN Osteopetrosis autosomal recessive 4
Reversed 1
HGVS NC_000016.9:g.1507296T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007268.1,