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rs863225226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225226(C;G)
Make rs863225226(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93758559
GeneTMEM67
is asnp
is mentioned by
dbSNPrs863225226
dbSNP (classic)rs863225226
ClinGenrs863225226
ebirs863225226
HLIrs863225226
Exacrs863225226
Gnomadrs863225226
Varsomers863225226
LitVarrs863225226
Maprs863225226
PheGenIrs863225226
Biobankrs863225226
1000 genomesrs863225226
hgdprs863225226
ensemblrs863225226
geneviewrs863225226
scholarrs863225226
googlers863225226
pharmgkbrs863225226
gwascentralrs863225226
openSNPrs863225226
23andMers863225226
SNPshotrs863225226
SNPdbers863225226
MSV3drs863225226
GWAS Ctlgrs863225226
Max Magnitude0
ClinVar
Risk rs863225226(G;G)
Alt rs863225226(G;G)
Reference Rs863225226(C;C)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94770787C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000201664.1,