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rs118204051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204051(C;T)
Make rs118204051(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15567752
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs118204051
ebirs118204051
HLIrs118204051
Exacrs118204051
Varsomers118204051
Maprs118204051
PheGenIrs118204051
hapmaprs118204051
1000 genomesrs118204051
hgdprs118204051
ensemblrs118204051
gopubmedrs118204051
geneviewrs118204051
scholarrs118204051
googlers118204051
pharmgkbrs118204051
gwascentralrs118204051
openSNPrs118204051
23andMers118204051
23andMe allrs118204051
SNP Nexus

SNPshotrs118204051
SNPdbers118204051
MSV3drs118204051
GWAS Ctlgrs118204051
Max Magnitude0
OMIM612013
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204051(T;T)
Alt rs118204051(T;T)
Reference rs118204051(C;C)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15569375C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000779.3,