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rs371812716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371812716(A;A)
Make rs371812716(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position130398935
GeneCEP41
is asnp
is mentioned by
dbSNPrs371812716
ebirs371812716
HLIrs371812716
Exacrs371812716
Varsomers371812716
Maprs371812716
PheGenIrs371812716
hapmaprs371812716
1000 genomesrs371812716
hgdprs371812716
ensemblrs371812716
gopubmedrs371812716
geneviewrs371812716
scholarrs371812716
googlers371812716
pharmgkbrs371812716
gwascentralrs371812716
openSNPrs371812716
23andMers371812716
23andMe allrs371812716
SNP Nexus

SNPshotrs371812716
SNPdbers371812716
MSV3drs371812716
GWAS Ctlgrs371812716
Max Magnitude0
ClinVar
Risk rs371812716(A;A)
Alt rs371812716(A;A)
Reference rs371812716(G;G)
Significance Pathogenic
Disease Joubert syndrome 9/15
Variation info
Gene CEP41
CLNDBN Joubert syndrome 9/15, digenic
Reversed 0
HGVS NC_000007.13:g.130038776G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023828.2,