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rs758948621

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs758948621(A;C)
Make rs758948621(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position93797329
GeneTMEM67
is asnp
is mentioned by
dbSNPrs758948621
ebirs758948621
HLIrs758948621
Exacrs758948621
Varsomers758948621
Maprs758948621
PheGenIrs758948621
hapmaprs758948621
1000 genomesrs758948621
hgdprs758948621
ensemblrs758948621
gopubmedrs758948621
geneviewrs758948621
scholarrs758948621
googlers758948621
pharmgkbrs758948621
gwascentralrs758948621
openSNPrs758948621
23andMers758948621
23andMe allrs758948621
SNP Nexus

SNPshotrs758948621
SNPdbers758948621
MSV3drs758948621
GWAS Ctlgrs758948621
Max Magnitude0
ClinVar
Risk rs758948621(C;C)
Alt rs758948621(C;C)
Reference rs758948621(A;A)
Significance Pathogenic
Disease COACH syndrome Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN COACH syndrome Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94809557A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001441.4, RCV000201576.1,