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rs137853149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853149(A;A)
Make rs137853149(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position68047733
GeneTCIRG1
is asnp
is mentioned by
dbSNPrs137853149
ebirs137853149
HLIrs137853149
Exacrs137853149
Varsomers137853149
Maprs137853149
PheGenIrs137853149
hapmaprs137853149
1000 genomesrs137853149
hgdprs137853149
ensemblrs137853149
gopubmedrs137853149
geneviewrs137853149
scholarrs137853149
googlers137853149
pharmgkbrs137853149
gwascentralrs137853149
openSNPrs137853149
23andMers137853149
23andMe allrs137853149
SNP Nexus

SNPshotrs137853149
SNPdbers137853149
MSV3drs137853149
GWAS Ctlgrs137853149
Max Magnitude0
OMIM604592
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853149(A;A)
Alt rs137853149(A;A)
Reference rs137853149(C;C)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 1
Variation info
Gene TCIRG1
CLNDBN Osteopetrosis autosomal recessive 1
Reversed 0
HGVS NC_000011.9:g.67815200C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005793.2,