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rs137853150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853150(A;A)
Make rs137853150(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68047480
GeneTCIRG1
is asnp
is mentioned by
dbSNPrs137853150
dbSNP (classic)rs137853150
ClinGenrs137853150
ebirs137853150
HLIrs137853150
Exacrs137853150
Gnomadrs137853150
Varsomers137853150
LitVarrs137853150
Maprs137853150
PheGenIrs137853150
Biobankrs137853150
1000 genomesrs137853150
hgdprs137853150
ensemblrs137853150
geneviewrs137853150
scholarrs137853150
googlers137853150
pharmgkbrs137853150
gwascentralrs137853150
openSNPrs137853150
23andMers137853150
SNPshotrs137853150
SNPdbers137853150
MSV3drs137853150
GWAS Ctlgrs137853150
Max Magnitude0
OMIM604592
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853150(A;A)
Alt rs137853150(A;A)
Reference Rs137853150(G;G)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 1
Variation info
Gene TCIRG1
CLNDBN Osteopetrosis autosomal recessive 1
Reversed 0
HGVS NC_000011.9:g.67814947G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005796.2,