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rs118204052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204052(C;T)
Make rs118204052(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15599614
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs118204052
ebirs118204052
HLIrs118204052
Exacrs118204052
Varsomers118204052
Maprs118204052
PheGenIrs118204052
hapmaprs118204052
1000 genomesrs118204052
hgdprs118204052
ensemblrs118204052
gopubmedrs118204052
geneviewrs118204052
scholarrs118204052
googlers118204052
pharmgkbrs118204052
gwascentralrs118204052
openSNPrs118204052
23andMers118204052
23andMe allrs118204052
SNP Nexus

SNPshotrs118204052
SNPdbers118204052
MSV3drs118204052
GWAS Ctlgrs118204052
Max Magnitude0
OMIM612013
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118204052(T;T)
Alt rs118204052(T;T)
Reference rs118204052(C;C)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15601237C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000780.3,