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rs137853151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853151(G;T)
Make rs137853151(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68047672
GeneTCIRG1
is asnp
is mentioned by
dbSNPrs137853151
ebirs137853151
HLIrs137853151
Exacrs137853151
Varsomers137853151
Maprs137853151
PheGenIrs137853151
hapmaprs137853151
1000 genomesrs137853151
hgdprs137853151
ensemblrs137853151
gopubmedrs137853151
geneviewrs137853151
scholarrs137853151
googlers137853151
pharmgkbrs137853151
gwascentralrs137853151
openSNPrs137853151
23andMers137853151
23andMe allrs137853151
SNP Nexus

SNPshotrs137853151
SNPdbers137853151
MSV3drs137853151
GWAS Ctlgrs137853151
Max Magnitude0
OMIM604592
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853151(A,T;A,T)
Alt rs137853151(A,T;A,T)
Reference rs137853151(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.67815139G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005797.2,