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rs267607116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607116(A;A)
Make rs267607116(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position93808861
GeneTMEM67
is asnp
is mentioned by
dbSNPrs267607116
ebirs267607116
HLIrs267607116
Exacrs267607116
Varsomers267607116
Maprs267607116
PheGenIrs267607116
hapmaprs267607116
1000 genomesrs267607116
hgdprs267607116
ensemblrs267607116
gopubmedrs267607116
geneviewrs267607116
scholarrs267607116
googlers267607116
pharmgkbrs267607116
gwascentralrs267607116
openSNPrs267607116
23andMers267607116
23andMe allrs267607116
SNP Nexus

SNPshotrs267607116
SNPdbers267607116
MSV3drs267607116
GWAS Ctlgrs267607116
Max Magnitude0
ClinVar
Risk rs267607116(A,C;A,C)
Alt rs267607116(A,C;A,C)
Reference rs267607116(G;G)
Significance Pathogenic
Disease Nephronophthisis 11 Joubert syndrome 6
Variation info
Gene TMEM67
CLNDBN Nephronophthisis 11 Joubert syndrome 6
Reversed 0
HGVS NC_000008.10:g.94821089G>A; NC_000008.10:g.94821089G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001450.2, RCV000001454.4, RCV000001455.4,