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rs150291837

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150291837(C;T)
Make rs150291837(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position74049431
GeneC2CD3
is asnp
is mentioned by
dbSNPrs150291837
ebirs150291837
HLIrs150291837
Exacrs150291837
Varsomers150291837
Maprs150291837
PheGenIrs150291837
hapmaprs150291837
1000 genomesrs150291837
hgdprs150291837
ensemblrs150291837
gopubmedrs150291837
geneviewrs150291837
scholarrs150291837
googlers150291837
pharmgkbrs150291837
gwascentralrs150291837
openSNPrs150291837
23andMers150291837
23andMe allrs150291837
SNP Nexus

SNPshotrs150291837
SNPdbers150291837
MSV3drs150291837
GWAS Ctlgrs150291837
Max Magnitude0
ClinVar
Risk rs150291837(T;T)
Alt rs150291837(T;T)
Reference rs150291837(C;C)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene C2CD3
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000011.9:g.73760476C>T
CLNSRC
CLNACC RCV000201697.1,