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rs387907576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907576(A;G)
Make rs387907576(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1461460
GeneCLCN7
is asnp
is mentioned by
dbSNPrs387907576
ebirs387907576
HLIrs387907576
Exacrs387907576
Varsomers387907576
Maprs387907576
PheGenIrs387907576
hapmaprs387907576
1000 genomesrs387907576
hgdprs387907576
ensemblrs387907576
gopubmedrs387907576
geneviewrs387907576
scholarrs387907576
googlers387907576
pharmgkbrs387907576
gwascentralrs387907576
openSNPrs387907576
23andMers387907576
23andMe allrs387907576
SNP Nexus

SNPshotrs387907576
SNPdbers387907576
MSV3drs387907576
GWAS Ctlgrs387907576
Max Magnitude0
ClinVar
Risk rs387907576(G;G)
Alt rs387907576(G;G)
Reference rs387907576(A;A)
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.1511461T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000050235.1, RCV000055847.1,