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rs786200868

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200868(A;A)
Make rs786200868(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position93755871
GeneTMEM67
is asnp
is mentioned by
dbSNPrs786200868
ebirs786200868
HLIrs786200868
Exacrs786200868
Varsomers786200868
Maprs786200868
PheGenIrs786200868
hapmaprs786200868
1000 genomesrs786200868
hgdprs786200868
ensemblrs786200868
gopubmedrs786200868
geneviewrs786200868
scholarrs786200868
googlers786200868
pharmgkbrs786200868
gwascentralrs786200868
openSNPrs786200868
23andMers786200868
23andMe allrs786200868
SNP Nexus

SNPshotrs786200868
SNPdbers786200868
MSV3drs786200868
GWAS Ctlgrs786200868
Max Magnitude0
ClinVar
Risk rs786200868(A;A)
Alt rs786200868(A;A)
Reference rs786200868(G;G)
Significance Pathogenic
Disease COACH syndrome
Variation info
Gene TMEM67
CLNDBN COACH syndrome
Reversed 0
HGVS NC_000008.10:g.94768099G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001448.5,