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rs863225227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225227(A;G)
Make rs863225227(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93780647
GeneTMEM67
is asnp
is mentioned by
dbSNPrs863225227
dbSNP (classic)rs863225227
ClinGenrs863225227
ebirs863225227
HLIrs863225227
Exacrs863225227
Gnomadrs863225227
Varsomers863225227
LitVarrs863225227
Maprs863225227
PheGenIrs863225227
Biobankrs863225227
1000 genomesrs863225227
hgdprs863225227
ensemblrs863225227
geneviewrs863225227
scholarrs863225227
googlers863225227
pharmgkbrs863225227
gwascentralrs863225227
openSNPrs863225227
23andMers863225227
SNPshotrs863225227
SNPdbers863225227
MSV3drs863225227
GWAS Ctlgrs863225227
Max Magnitude0
ClinVar
Risk rs863225227(G;G)
Alt rs863225227(G;G)
Reference Rs863225227(A;A)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94792875A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000201614.1,