Rs121434433

From SNPedia
Jump to: navigation, search

Orientationminus
is asnp
is mentioned by
dbSNPrs121434433
PheGenIrs121434433
nextbiors121434433
hapmaprs121434433
1000 genomesrs121434433
hgdprs121434433
ensemblrs121434433
gopubmedrs121434433
geneviewrs121434433
scholarrs121434433
googlers121434433
pharmgkbrs121434433
gwascentralrs121434433
openSNPrs121434433
23andMers121434433
23andMe allrs121434433
SNP Nexus

SNPshotrs121434433
SNPdbers121434433
MSV3drs121434433
GeneCLCN7
Chromosome16
Orientationminus
Position1447052
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434433(A;A)
Make rs121434433(A;G)
OMIM602727
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434433(A;A)
Alt rs121434433(A;A)
Reference rs121434433(G;G)
Significance 5
Disease Osteopetrosis autosomal recessive 4
ClinVar info
Gene CLCN7
CLNDBN Osteopetrosis autosomal recessive 4
Reversed 1
CLNHGVS NC_000016.9:g.1497053C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007264.1