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rs201893408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201893408(C;C)
Make rs201893408(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93795970
GeneTMEM67
is asnp
is mentioned by
dbSNPrs201893408
ebirs201893408
HLIrs201893408
Exacrs201893408
Varsomers201893408
Maprs201893408
PheGenIrs201893408
hapmaprs201893408
1000 genomesrs201893408
hgdprs201893408
ensemblrs201893408
gopubmedrs201893408
geneviewrs201893408
scholarrs201893408
googlers201893408
pharmgkbrs201893408
gwascentralrs201893408
openSNPrs201893408
23andMers201893408
23andMe allrs201893408
SNP Nexus

SNPshotrs201893408
SNPdbers201893408
MSV3drs201893408
GWAS Ctlgrs201893408
Max Magnitude0
ClinVar
Risk rs201893408(A,C;A,C)
Alt rs201893408(A,C;A,C)
Reference rs201893408(T;T)
Significance Pathogenic
Disease Nephronophthisis 11 Joubert syndrome 6 Nephronophthisis
Variation info
Gene TMEM67
CLNDBN Nephronophthisis 11 Joubert syndrome 6 Nephronophthisis
Reversed 0
HGVS NC_000008.10:g.94808198T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001451.4, RCV000001452.5, RCV000234823.1,