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rs786200867

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200867(G;T)
Make rs786200867(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93808957
GeneTMEM67
is asnp
is mentioned by
dbSNPrs786200867
ebirs786200867
HLIrs786200867
Exacrs786200867
Varsomers786200867
Maprs786200867
PheGenIrs786200867
hapmaprs786200867
1000 genomesrs786200867
hgdprs786200867
ensemblrs786200867
gopubmedrs786200867
geneviewrs786200867
scholarrs786200867
googlers786200867
pharmgkbrs786200867
gwascentralrs786200867
openSNPrs786200867
23andMers786200867
23andMe allrs786200867
SNP Nexus

SNPshotrs786200867
SNPdbers786200867
MSV3drs786200867
GWAS Ctlgrs786200867
Max Magnitude0
ClinVar
Risk rs786200867(T;T)
Alt rs786200867(T;T)
Reference rs786200867(G;G)
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.94821185G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001447.5, RCV000201565.1,