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rs777686211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs777686211(-;-)
Make rs777686211(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37226776
GeneC5orf42
is asnp
is mentioned by
dbSNPrs777686211
dbSNP (old)rs777686211
ClinGenrs777686211
ebirs777686211
HLIrs777686211
Exacrs777686211
Gnomadrs777686211
Varsomers777686211
Maprs777686211
PheGenIrs777686211
Biobankrs777686211
1000 genomesrs777686211
hgdprs777686211
ensemblrs777686211
gopubmedrs777686211
geneviewrs777686211
scholarrs777686211
googlers777686211
pharmgkbrs777686211
gwascentralrs777686211
openSNPrs777686211
23andMers777686211
23andMe allrs777686211
SNP Nexus

SNPshotrs777686211
SNPdbers777686211
MSV3drs777686211
GWAS Ctlgrs777686211
Max Magnitude0
ClinVar
Risk rs777686211(-;-)
Alt rs777686211(-;-)
Reference Rs777686211(A;A)
Significance Pathogenic
Disease Joubert syndrome 17 not provided Global developmental delay Jaundice
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17 not provided Global developmental delay Jaundice
Reversed 0
HGVS NC_000005.9:g.37226878delA
CLNSRC
CLNACC RCV000201783.1, RCV000313670.2, RCV000414845.1,