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rs145520487

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs145520487(A;G)
Make rs145520487(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37187826
GeneC5orf42
is asnp
is mentioned by
dbSNPrs145520487
ebirs145520487
HLIrs145520487
Exacrs145520487
Varsomers145520487
Maprs145520487
PheGenIrs145520487
hapmaprs145520487
1000 genomesrs145520487
hgdprs145520487
ensemblrs145520487
gopubmedrs145520487
geneviewrs145520487
scholarrs145520487
googlers145520487
pharmgkbrs145520487
gwascentralrs145520487
openSNPrs145520487
23andMers145520487
23andMe allrs145520487
SNP Nexus

SNPshotrs145520487
SNPdbers145520487
MSV3drs145520487
GWAS Ctlgrs145520487
Max Magnitude0
ClinVar
Risk rs145520487(G;G)
Alt rs145520487(G;G)
Reference rs145520487(A;A)
Significance Probable-Pathogenic
Disease not provided Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN not provided Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37187928A>G
CLNSRC
CLNACC RCV000176327.1, RCV000201620.1,