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rs730882239

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882239(-;-)
Make rs730882239(-;A)
Make rs730882239(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position226986537
GeneADCK3
is asnp
is mentioned by
dbSNPrs730882239
ebirs730882239
HLIrs730882239
Exacrs730882239
Varsomers730882239
Maprs730882239
PheGenIrs730882239
hapmaprs730882239
1000 genomesrs730882239
hgdprs730882239
ensemblrs730882239
gopubmedrs730882239
geneviewrs730882239
scholarrs730882239
googlers730882239
pharmgkbrs730882239
gwascentralrs730882239
openSNPrs730882239
23andMers730882239
23andMe allrs730882239
SNP Nexus

SNPshotrs730882239
SNPdbers730882239
MSV3drs730882239
GWAS Ctlgrs730882239
Max Magnitude0
ClinVar
Risk rs730882239(A;A)
Alt rs730882239(A;A)
Reference rs730882239(;)
Significance Probable-Pathogenic
Disease Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech
Variation info
Gene ADCK3
CLNDBN Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech
Reversed 0
HGVS NC_000001.10:g.227174238dupA
CLNSRC King Faisal Specialist Hospital and Research Center
CLNACC RCV000162171.1,