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rs139617644

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139617644(A;A)
Make rs139617644(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position68049080
GeneTCIRG1
is asnp
is mentioned by
dbSNPrs139617644
ebirs139617644
HLIrs139617644
Exacrs139617644
Varsomers139617644
Maprs139617644
PheGenIrs139617644
hapmaprs139617644
1000 genomesrs139617644
hgdprs139617644
ensemblrs139617644
gopubmedrs139617644
geneviewrs139617644
scholarrs139617644
googlers139617644
pharmgkbrs139617644
gwascentralrs139617644
openSNPrs139617644
23andMers139617644
23andMe allrs139617644
SNP Nexus

SNPshotrs139617644
SNPdbers139617644
MSV3drs139617644
GWAS Ctlgrs139617644
Max Magnitude0
ClinVar
Risk rs139617644(A;A)
Alt rs139617644(A;A)
Reference rs139617644(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.67816547G>A
CLNSRC
CLNACC RCV000169678.1,