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rs119103243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119103243(A;T)
Make rs119103243(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position152381320
GeneACTN2, SYNE1
is asnp
is mentioned by
dbSNPrs119103243
ebirs119103243
HLIrs119103243
Exacrs119103243
Varsomers119103243
Maprs119103243
PheGenIrs119103243
hapmaprs119103243
1000 genomesrs119103243
hgdprs119103243
ensemblrs119103243
gopubmedrs119103243
geneviewrs119103243
scholarrs119103243
googlers119103243
pharmgkbrs119103243
gwascentralrs119103243
openSNPrs119103243
23andMers119103243
23andMe allrs119103243
SNP Nexus

SNPshotrs119103243
SNPdbers119103243
MSV3drs119103243
GWAS Ctlgrs119103243
Max Magnitude0
OMIM608441
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103243(T;T)
Alt rs119103243(T;T)
Reference rs119103243(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1-AS1 SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 1
HGVS NC_000006.11:g.152702455T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002417.2,