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rs141507441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141507441(A;A)
Make rs141507441(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37125330
GeneC5orf42
is asnp
is mentioned by
dbSNPrs141507441
dbSNP (classic)rs141507441
ClinGenrs141507441
ebirs141507441
HLIrs141507441
Exacrs141507441
Gnomadrs141507441
Varsomers141507441
LitVarrs141507441
Maprs141507441
PheGenIrs141507441
Biobankrs141507441
1000 genomesrs141507441
hgdprs141507441
ensemblrs141507441
geneviewrs141507441
scholarrs141507441
googlers141507441
pharmgkbrs141507441
gwascentralrs141507441
openSNPrs141507441
23andMers141507441
SNPshotrs141507441
SNPdbers141507441
MSV3drs141507441
GWAS Ctlgrs141507441
Max Magnitude0
ClinVar
Risk rs141507441(A;A)
Alt rs141507441(A;A)
Reference Rs141507441(G;G)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37125432G>A
CLNSRC
CLNACC RCV000201591.1,