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rs202149403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202149403(C;C)
Make rs202149403(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93780633
GeneTMEM67
is asnp
is mentioned by
dbSNPrs202149403
ebirs202149403
HLIrs202149403
Exacrs202149403
Varsomers202149403
Maprs202149403
PheGenIrs202149403
hapmaprs202149403
1000 genomesrs202149403
hgdprs202149403
ensemblrs202149403
gopubmedrs202149403
geneviewrs202149403
scholarrs202149403
googlers202149403
pharmgkbrs202149403
gwascentralrs202149403
openSNPrs202149403
23andMers202149403
23andMe allrs202149403
SNP Nexus

SNPshotrs202149403
SNPdbers202149403
MSV3drs202149403
GWAS Ctlgrs202149403
Max Magnitude0
ClinVar
Risk rs202149403(C;C)
Alt rs202149403(C;C)
Reference rs202149403(T;T)
Significance Pathogenic
Disease Joubert syndrome 6 Nephronophthisis
Variation info
Gene TMEM67
CLNDBN Joubert syndrome 6 Nephronophthisis
Reversed 0
HGVS NC_000008.10:g.94792861T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001457.5, RCV000234813.1,