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rs104894393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894393(C;C)
Make rs104894393(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position101726785
GeneFGF14
is asnp
is mentioned by
dbSNPrs104894393
dbSNP (classic)rs104894393
ClinGenrs104894393
ebirs104894393
HLIrs104894393
Exacrs104894393
Gnomadrs104894393
Varsomers104894393
LitVarrs104894393
Maprs104894393
PheGenIrs104894393
Biobankrs104894393
1000 genomesrs104894393
hgdprs104894393
ensemblrs104894393
geneviewrs104894393
scholarrs104894393
googlers104894393
pharmgkbrs104894393
gwascentralrs104894393
openSNPrs104894393
23andMers104894393
SNPshotrs104894393
SNPdbers104894393
MSV3drs104894393
GWAS Ctlgrs104894393
Max Magnitude0
OMIM601515
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894393(C;C)
Alt rs104894393(C;C)
Reference Rs104894393(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 27
Variation info
Gene FGF14
CLNDBN Spinocerebellar ataxia 27
Reversed 1
HGVS NC_000013.10:g.102379135A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008584.2,