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rs72466487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72466487(A;C)
Make rs72466487(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position74378058
GeneDCTN1
is asnp
is mentioned by
dbSNPrs72466487
ebirs72466487
HLIrs72466487
Exacrs72466487
Varsomers72466487
Maprs72466487
PheGenIrs72466487
hapmaprs72466487
1000 genomesrs72466487
hgdprs72466487
ensemblrs72466487
gopubmedrs72466487
geneviewrs72466487
scholarrs72466487
googlers72466487
pharmgkbrs72466487
gwascentralrs72466487
openSNPrs72466487
23andMers72466487
23andMe allrs72466487
SNP Nexus

SNPshotrs72466487
SNPdbers72466487
MSV3drs72466487
GWAS Ctlgrs72466487
Max Magnitude0
OMIM601143
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72466487(C,G;C,G)
Alt rs72466487(C,G;C,G)
Reference rs72466487(A;A)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74605185T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008915.3,