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rs200799769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200799769(C;T)
Make rs200799769(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75542641
GeneTMEM231
is asnp
is mentioned by
dbSNPrs200799769
ebirs200799769
HLIrs200799769
Exacrs200799769
Varsomers200799769
Maprs200799769
PheGenIrs200799769
hapmaprs200799769
1000 genomesrs200799769
hgdprs200799769
ensemblrs200799769
gopubmedrs200799769
geneviewrs200799769
scholarrs200799769
googlers200799769
pharmgkbrs200799769
gwascentralrs200799769
openSNPrs200799769
23andMers200799769
23andMe allrs200799769
SNP Nexus

SNPshotrs200799769
SNPdbers200799769
MSV3drs200799769
GWAS Ctlgrs200799769
Max Magnitude0
ClinVar
Risk rs200799769(T;T)
Alt rs200799769(T;T)
Reference rs200799769(C;C)
Significance Pathogenic
Disease Joubert syndrome 20
Variation info
Gene TMEM231
CLNDBN Joubert syndrome 20
Reversed 0
HGVS NC_000016.9:g.75576539C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033042.3,