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rs886039229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886039229(A;G)
Make rs886039229(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position74378046
GeneDCTN1
is asnp
is mentioned by
dbSNPrs886039229
dbSNP (classic)rs886039229
ClinGenrs886039229
ebirs886039229
HLIrs886039229
Exacrs886039229
Gnomadrs886039229
Varsomers886039229
LitVarrs886039229
Maprs886039229
PheGenIrs886039229
Biobankrs886039229
1000 genomesrs886039229
hgdprs886039229
ensemblrs886039229
geneviewrs886039229
scholarrs886039229
googlers886039229
pharmgkbrs886039229
gwascentralrs886039229
openSNPrs886039229
23andMers886039229
SNPshotrs886039229
SNPdbers886039229
MSV3drs886039229
GWAS Ctlgrs886039229
Max Magnitude0
ClinVar
Risk rs886039229(G;G)
Alt rs886039229(G;G)
Reference Rs886039229(A;A)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74605173T>C
CLNSRC
CLNACC RCV000247326.1,