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rs118204053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204053(C;T)
Make rs118204053(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position15559183
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs118204053
ebirs118204053
HLIrs118204053
Exacrs118204053
Varsomers118204053
Maprs118204053
PheGenIrs118204053
hapmaprs118204053
1000 genomesrs118204053
hgdprs118204053
ensemblrs118204053
gopubmedrs118204053
geneviewrs118204053
scholarrs118204053
googlers118204053
pharmgkbrs118204053
gwascentralrs118204053
openSNPrs118204053
23andMers118204053
23andMe allrs118204053
SNP Nexus

SNPshotrs118204053
SNPdbers118204053
MSV3drs118204053
GWAS Ctlgrs118204053
Max Magnitude0
OMIM612013
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118204053(T;T)
Alt rs118204053(T;T)
Reference rs118204053(C;C)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15560806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000781.3,