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rs72466485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72466485(A;A)
Make rs72466485(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position74378068
GeneDCTN1
is asnp
is mentioned by
dbSNPrs72466485
ebirs72466485
HLIrs72466485
Exacrs72466485
Varsomers72466485
Maprs72466485
PheGenIrs72466485
hapmaprs72466485
1000 genomesrs72466485
hgdprs72466485
ensemblrs72466485
gopubmedrs72466485
geneviewrs72466485
scholarrs72466485
googlers72466485
pharmgkbrs72466485
gwascentralrs72466485
openSNPrs72466485
23andMers72466485
23andMe allrs72466485
SNP Nexus

SNPshotrs72466485
SNPdbers72466485
MSV3drs72466485
GWAS Ctlgrs72466485
Max Magnitude0
OMIM601143
Desc
Variant0006
Relatedalso
ClinVar
Risk rs72466485(A;A)
Alt rs72466485(A;A)
Reference rs72466485(G;G)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74605195C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008914.3,