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rs398123011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5.8 Osteopetrosis, type 8
(A;G) 3 Carrier of a pathogenic mutation for osteopetrosis
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position26364575
GeneSNX10
is asnp
is mentioned by
dbSNPrs398123011
dbSNP (old)rs398123011
ClinGenrs398123011
ebirs398123011
HLIrs398123011
Exacrs398123011
Gnomadrs398123011
Varsomers398123011
Maprs398123011
PheGenIrs398123011
Biobankrs398123011
1000 genomesrs398123011
hgdprs398123011
ensemblrs398123011
gopubmedrs398123011
geneviewrs398123011
scholarrs398123011
googlers398123011
pharmgkbrs398123011
gwascentralrs398123011
openSNPrs398123011
23andMers398123011
23andMe allrs398123011
SNP Nexus

SNPshotrs398123011
SNPdbers398123011
MSV3drs398123011
GWAS Ctlgrs398123011
Max Magnitude5.8

SNX10 gene, c.152G>A (p.Arg51Gln)

rs398123011(A) is considered a recessively inherited mutation pathogenic for osteopetrosis, type 8.

ClinVar
Risk Rs398123011(A;A)
Alt Rs398123011(A;A)
Reference Rs398123011(G;G)
Significance Pathogenic
Disease Osteopetrosis
Variation info
Gene SNX10
CLNDBN Osteopetrosis, autosomal recessive 8
Reversed 0
HGVS NC_000007.13:g.26404195G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033149.2,