Rs121434432

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434432(C;T)
Make rs121434432(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position1449282
GeneCLCN7
is asnp
is mentioned by
dbSNPrs121434432
Exacrs121434432
PheGenIrs121434432
nextbiors121434432
hapmaprs121434432
1000 genomesrs121434432
hgdprs121434432
ensemblrs121434432
gopubmedrs121434432
geneviewrs121434432
scholarrs121434432
googlers121434432
pharmgkbrs121434432
gwascentralrs121434432
openSNPrs121434432
23andMers121434432
23andMe allrs121434432
SNP Nexus

SNPshotrs121434432
SNPdbers121434432
MSV3drs121434432
Max Magnitude0
OMIM602727
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434432(T;T)
Alt rs121434432(T;T)
Reference rs121434432(C;C)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 4
Variation info
Gene CLCN7
CLNDBN Osteopetrosis autosomal recessive 4
Reversed 1
HGVS NC_000016.9:g.1499283G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007263.1,