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rs267607117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607117(G;T)
Make rs267607117(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93780747
GeneTMEM67
is asnp
is mentioned by
dbSNPrs267607117
dbSNP (classic)rs267607117
ClinGenrs267607117
ebirs267607117
HLIrs267607117
Exacrs267607117
Gnomadrs267607117
Varsomers267607117
LitVarrs267607117
Maprs267607117
PheGenIrs267607117
Biobankrs267607117
1000 genomesrs267607117
hgdprs267607117
ensemblrs267607117
geneviewrs267607117
scholarrs267607117
googlers267607117
pharmgkbrs267607117
gwascentralrs267607117
openSNPrs267607117
23andMers267607117
SNPshotrs267607117
SNPdbers267607117
MSV3drs267607117
GWAS Ctlgrs267607117
Max Magnitude0
ClinVar
Risk rs267607117(T;T)
Alt rs267607117(T;T)
Reference Rs267607117(G;G)
Significance Pathogenic
Disease Nephronophthisis 11
Variation info
Gene TMEM67
CLNDBN Nephronophthisis 11
Reversed 0
HGVS NC_000008.10:g.94792975G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001453.4,