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rs775256658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs775256658(A;G)
Make rs775256658(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93780985
GeneTMEM67
is asnp
is mentioned by
dbSNPrs775256658
dbSNP (classic)rs775256658
ClinGenrs775256658
ebirs775256658
HLIrs775256658
Exacrs775256658
Gnomadrs775256658
Varsomers775256658
LitVarrs775256658
Maprs775256658
PheGenIrs775256658
Biobankrs775256658
1000 genomesrs775256658
hgdprs775256658
ensemblrs775256658
geneviewrs775256658
scholarrs775256658
googlers775256658
pharmgkbrs775256658
gwascentralrs775256658
openSNPrs775256658
23andMers775256658
SNPshotrs775256658
SNPdbers775256658
MSV3drs775256658
GWAS Ctlgrs775256658
Max Magnitude0
ClinVar
Risk rs775256658(G;G)
Alt rs775256658(G;G)
Reference Rs775256658(A;A)
Significance Pathogenic
Disease Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94793213A>G
CLNSRC
CLNACC RCV000201705.1,