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rs137853107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853107(A;G)
Make rs137853107(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93791282
GeneTMEM67
is asnp
is mentioned by
dbSNPrs137853107
ebirs137853107
HLIrs137853107
Exacrs137853107
Varsomers137853107
Maprs137853107
PheGenIrs137853107
hapmaprs137853107
1000 genomesrs137853107
hgdprs137853107
ensemblrs137853107
gopubmedrs137853107
geneviewrs137853107
scholarrs137853107
googlers137853107
pharmgkbrs137853107
gwascentralrs137853107
openSNPrs137853107
23andMers137853107
23andMe allrs137853107
SNP Nexus

SNPshotrs137853107
SNPdbers137853107
MSV3drs137853107
GWAS Ctlgrs137853107
Max Magnitude0
OMIM609884
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853107(G,T;G,T)
Alt rs137853107(G,T;G,T)
Reference rs137853107(A;A)
Significance Pathogenic
Disease Joubert syndrome 6 COACH syndrome
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6 COACH syndrome
Reversed 0
HGVS NC_000008.10:g.94803510A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001436.6, RCV000001437.5,