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rs863225239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225239(A;A)
Make rs863225239(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93809166
GeneTMEM67
is asnp
is mentioned by
dbSNPrs863225239
dbSNP (classic)rs863225239
ClinGenrs863225239
ebirs863225239
HLIrs863225239
Exacrs863225239
Gnomadrs863225239
Varsomers863225239
LitVarrs863225239
Maprs863225239
PheGenIrs863225239
Biobankrs863225239
1000 genomesrs863225239
hgdprs863225239
ensemblrs863225239
geneviewrs863225239
scholarrs863225239
googlers863225239
pharmgkbrs863225239
gwascentralrs863225239
openSNPrs863225239
23andMers863225239
SNPshotrs863225239
SNPdbers863225239
MSV3drs863225239
GWAS Ctlgrs863225239
Max Magnitude0
ClinVar
Risk rs863225239(A;A)
Alt rs863225239(A;A)
Reference Rs863225239(G;G)
Significance Probable-Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94821394G>A
CLNSRC
CLNACC RCV000201535.1,