Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894700(A;A)
Make rs104894700(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position50323609
GeneKCNC3
is asnp
is mentioned by
dbSNPrs104894700
ebirs104894700
HLIrs104894700
Exacrs104894700
Varsomers104894700
Maprs104894700
PheGenIrs104894700
hapmaprs104894700
1000 genomesrs104894700
hgdprs104894700
ensemblrs104894700
gopubmedrs104894700
geneviewrs104894700
scholarrs104894700
googlers104894700
pharmgkbrs104894700
gwascentralrs104894700
openSNPrs104894700
23andMers104894700
23andMe allrs104894700
SNP Nexus

SNPshotrs104894700
SNPdbers104894700
MSV3drs104894700
GWAS Ctlgrs104894700
Max Magnitude0
OMIM176264
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894700(A;A)
Alt rs104894700(A;A)
Reference rs104894700(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 13
Variation info
Gene KCNC3
CLNDBN Spinocerebellar ataxia 13
Reversed 1
HGVS NC_000019.9:g.50826866G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014416.25,