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rs200904521

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200904521(C;T)
Make rs200904521(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position15555209
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs200904521
ebirs200904521
HLIrs200904521
Exacrs200904521
Varsomers200904521
Maprs200904521
PheGenIrs200904521
hapmaprs200904521
1000 genomesrs200904521
hgdprs200904521
ensemblrs200904521
gopubmedrs200904521
geneviewrs200904521
scholarrs200904521
googlers200904521
pharmgkbrs200904521
gwascentralrs200904521
openSNPrs200904521
23andMers200904521
23andMe allrs200904521
SNP Nexus

SNPshotrs200904521
SNPdbers200904521
MSV3drs200904521
GWAS Ctlgrs200904521
Max Magnitude0
ClinVar
Risk rs200904521(T;T)
Alt rs200904521(T;T)
Reference rs200904521(C;C)
Significance Pathogenic
Disease Joubert syndrome 9
Variation info
Gene CC2D2A
CLNDBN Joubert syndrome 9
Reversed 0
HGVS NC_000004.11:g.15556832C>A
CLNSRC
CLNACC RCV000201574.1,