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rs397515539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515539(A;A)
Make rs397515539(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1459139
GeneCLCN7
is asnp
is mentioned by
dbSNPrs397515539
ebirs397515539
HLIrs397515539
Exacrs397515539
Varsomers397515539
Maprs397515539
PheGenIrs397515539
hapmaprs397515539
1000 genomesrs397515539
hgdprs397515539
ensemblrs397515539
gopubmedrs397515539
geneviewrs397515539
scholarrs397515539
googlers397515539
pharmgkbrs397515539
gwascentralrs397515539
openSNPrs397515539
23andMers397515539
23andMe allrs397515539
SNP Nexus

SNPshotrs397515539
SNPdbers397515539
MSV3drs397515539
GWAS Ctlgrs397515539
Max Magnitude0
ClinVar
Risk rs397515539(A;A)
Alt rs397515539(A;A)
Reference rs397515539(G;G)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 4
Variation info
Gene CLCN7
CLNDBN Osteopetrosis autosomal recessive 4
Reversed 1
HGVS NC_000016.9:g.1509140C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055848.1,