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rs863223283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAAA;ACAAA) 0 common in clinvar
Make rs863223283(-;-)
Make rs863223283(-;ACAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94600844
GeneCASD1, SGCE
is asnp
is mentioned by
dbSNPrs863223283
ClinGenrs863223283
ebirs863223283
HLIrs863223283
Exacrs863223283
Varsomers863223283
Maprs863223283
PheGenIrs863223283
hapmaprs863223283
1000 genomesrs863223283
hgdprs863223283
ensemblrs863223283
gopubmedrs863223283
geneviewrs863223283
scholarrs863223283
googlers863223283
pharmgkbrs863223283
gwascentralrs863223283
openSNPrs863223283
23andMers863223283
23andMe allrs863223283
SNP Nexus

SNPshotrs863223283
SNPdbers863223283
MSV3drs863223283
GWAS Ctlgrs863223283
Max Magnitude0
ClinVar
Risk rs863223283(-;-)
Alt rs863223283(-;-)
Reference Rs863223283(ACAAA;ACAAA)
Significance Pathogenic
Disease Myoclonic dystonia
Variation info
Gene SGCE
CLNDBN Myoclonic dystonia
Reversed 1
HGVS NC_000007.13:g.94230156_94230160delTTTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006128.6,