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rs1057517365

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517365(A;A)
Make rs1057517365(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position68048883
GeneTCIRG1
is asnp
is mentioned by
dbSNPrs1057517365
dbSNP (old)rs1057517365
ClinGenrs1057517365
ebirs1057517365
HLIrs1057517365
Exacrs1057517365
Gnomadrs1057517365
Varsomers1057517365
Maprs1057517365
PheGenIrs1057517365
Biobankrs1057517365
1000 genomesrs1057517365
hgdprs1057517365
ensemblrs1057517365
gopubmedrs1057517365
geneviewrs1057517365
scholarrs1057517365
googlers1057517365
pharmgkbrs1057517365
gwascentralrs1057517365
openSNPrs1057517365
23andMers1057517365
23andMe allrs1057517365
SNPshotrs1057517365
SNPdbers1057517365
MSV3drs1057517365
GWAS Ctlgrs1057517365
Max Magnitude0
ClinVar
Risk rs1057517365(A;A)
Alt rs1057517365(A;A)
Reference Rs1057517365(G;G)
Significance Probable-Pathogenic
Disease Osteopetrosis autosomal recessive 1
Variation info
Gene TCIRG1
CLNDBN Osteopetrosis autosomal recessive 1
Reversed 0
HGVS NC_000011.9:g.67816350G>A
CLNSRC
CLNACC RCV000410207.1,