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rs886039228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039228(A;A)
Make rs886039228(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position74378079
GeneDCTN1
is asnp
is mentioned by
dbSNPrs886039228
dbSNP (classic)rs886039228
ClinGenrs886039228
ebirs886039228
HLIrs886039228
Exacrs886039228
Gnomadrs886039228
Varsomers886039228
LitVarrs886039228
Maprs886039228
PheGenIrs886039228
Biobankrs886039228
1000 genomesrs886039228
hgdprs886039228
ensemblrs886039228
geneviewrs886039228
scholarrs886039228
googlers886039228
pharmgkbrs886039228
gwascentralrs886039228
openSNPrs886039228
23andMers886039228
SNPshotrs886039228
SNPdbers886039228
MSV3drs886039228
GWAS Ctlgrs886039228
Max Magnitude0
ClinVar
Risk rs886039228(A;A)
Alt rs886039228(A;A)
Reference Rs886039228(G;G)
Significance Pathogenic
Disease Perry syndrome
Variation info
Gene DCTN1
CLNDBN Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74605206C>T
CLNSRC
CLNACC RCV000242533.1,