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rs72466486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72466486(A;C)
Make rs72466486(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position74378065
GeneDCTN1
is asnp
is mentioned by
dbSNPrs72466486
ebirs72466486
HLIrs72466486
Exacrs72466486
Varsomers72466486
Maprs72466486
PheGenIrs72466486
hapmaprs72466486
1000 genomesrs72466486
hgdprs72466486
ensemblrs72466486
gopubmedrs72466486
geneviewrs72466486
scholarrs72466486
googlers72466486
pharmgkbrs72466486
gwascentralrs72466486
openSNPrs72466486
23andMers72466486
23andMe allrs72466486
SNP Nexus

SNPshotrs72466486
SNPdbers72466486
MSV3drs72466486
GWAS Ctlgrs72466486
Max Magnitude0
ClinVar
Risk rs72466486(C;C)
Alt rs72466486(C;C)
Reference rs72466486(A;A)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74605192T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020578.1,