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rs730882238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
Make rs730882238(-;-)
Make rs730882238(-;AACT)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11243279
GeneDOCK6
is asnp
is mentioned by
dbSNPrs730882238
dbSNP (classic)rs730882238
ClinGenrs730882238
ebirs730882238
HLIrs730882238
Exacrs730882238
Gnomadrs730882238
Varsomers730882238
LitVarrs730882238
Maprs730882238
PheGenIrs730882238
Biobankrs730882238
1000 genomesrs730882238
hgdprs730882238
ensemblrs730882238
geneviewrs730882238
scholarrs730882238
googlers730882238
pharmgkbrs730882238
gwascentralrs730882238
openSNPrs730882238
23andMers730882238
SNPshotrs730882238
SNPdbers730882238
MSV3drs730882238
GWAS Ctlgrs730882238
Max Magnitude0
ClinVar
Risk rs730882238(-;-)
Alt rs730882238(-;-)
Reference Rs730882238(AACT;AACT)
Significance Probable-Pathogenic
Disease Adams-Oliver syndrome
Variation info
Gene DOCK6
CLNDBN Adams-Oliver syndrome
Reversed 1
HGVS NC_000019.9:g.11353955_11353958delAGTT
CLNSRC
CLNACC RCV000162169.1,