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rs104894699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894699(A;A)
Make rs104894699(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position50323694
GeneKCNC3
is asnp
is mentioned by
dbSNPrs104894699
ebirs104894699
HLIrs104894699
Exacrs104894699
Varsomers104894699
Maprs104894699
PheGenIrs104894699
hapmaprs104894699
1000 genomesrs104894699
hgdprs104894699
ensemblrs104894699
gopubmedrs104894699
geneviewrs104894699
scholarrs104894699
googlers104894699
pharmgkbrs104894699
gwascentralrs104894699
openSNPrs104894699
23andMers104894699
23andMe allrs104894699
SNP Nexus

SNPshotrs104894699
SNPdbers104894699
MSV3drs104894699
GWAS Ctlgrs104894699
Max Magnitude0
OMIM176264
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894699(A;A)
Alt rs104894699(A;A)
Reference rs104894699(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 13
Variation info
Gene KCNC3
CLNDBN Spinocerebellar ataxia 13
Reversed 1
HGVS NC_000019.9:g.50826951C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014415.27,