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rs886039227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886039227(G;G)
Make rs886039227(G;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position74378123
GeneDCTN1
is asnp
is mentioned by
dbSNPrs886039227
dbSNP (classic)rs886039227
ClinGenrs886039227
ebirs886039227
HLIrs886039227
Exacrs886039227
Gnomadrs886039227
Varsomers886039227
LitVarrs886039227
Maprs886039227
PheGenIrs886039227
Biobankrs886039227
1000 genomesrs886039227
hgdprs886039227
ensemblrs886039227
geneviewrs886039227
scholarrs886039227
googlers886039227
pharmgkbrs886039227
gwascentralrs886039227
openSNPrs886039227
23andMers886039227
SNPshotrs886039227
SNPdbers886039227
MSV3drs886039227
GWAS Ctlgrs886039227
Max Magnitude0
ClinVar
Risk rs886039227(G;G)
Alt rs886039227(G;G)
Reference Rs886039227(T;T)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74605250A>C
CLNSRC
CLNACC RCV000246042.1,