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rs566433112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs566433112(C;C)
Make rs566433112(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position74378112
GeneDCTN1
is asnp
is mentioned by
dbSNPrs566433112
dbSNP (classic)rs566433112
ClinGenrs566433112
ebirs566433112
HLIrs566433112
Exacrs566433112
Gnomadrs566433112
Varsomers566433112
LitVarrs566433112
Maprs566433112
PheGenIrs566433112
Biobankrs566433112
1000 genomesrs566433112
hgdprs566433112
ensemblrs566433112
geneviewrs566433112
scholarrs566433112
googlers566433112
pharmgkbrs566433112
gwascentralrs566433112
openSNPrs566433112
23andMers566433112
SNPshotrs566433112
SNPdbers566433112
MSV3drs566433112
GWAS Ctlgrs566433112
Max Magnitude0
ClinVar
Risk rs566433112(C;C)
Alt rs566433112(C;C)
Reference Rs566433112(T;T)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 0
HGVS NC_000002.11:g.74605239T>C
CLNSRC
CLNACC RCV000250790.1,