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rs587777156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777156(C;T)
Make rs587777156(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position231738139
GenePDE6D
is asnp
is mentioned by
dbSNPrs587777156
ebirs587777156
HLIrs587777156
Exacrs587777156
Varsomers587777156
Maprs587777156
PheGenIrs587777156
hapmaprs587777156
1000 genomesrs587777156
hgdprs587777156
ensemblrs587777156
gopubmedrs587777156
geneviewrs587777156
scholarrs587777156
googlers587777156
pharmgkbrs587777156
gwascentralrs587777156
openSNPrs587777156
23andMers587777156
23andMe allrs587777156
SNP Nexus

SNPshotrs587777156
SNPdbers587777156
MSV3drs587777156
GWAS Ctlgrs587777156
Max Magnitude0
ClinVar
Risk rs587777156(C,T;C,T)
Alt rs587777156(C,T;C,T)
Reference rs587777156(G;G)
Significance Pathogenic
Disease Joubert syndrome 22
Variation info
Gene PDE6D
CLNDBN Joubert syndrome 22
Reversed 1
HGVS NC_000002.11:g.232602849C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087137.3,