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rs202232792

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202232792(C;T)
Make rs202232792(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position5023573
GeneKIF1C
is asnp
is mentioned by
dbSNPrs202232792
ebirs202232792
HLIrs202232792
Exacrs202232792
Varsomers202232792
Maprs202232792
PheGenIrs202232792
hapmaprs202232792
1000 genomesrs202232792
hgdprs202232792
ensemblrs202232792
gopubmedrs202232792
geneviewrs202232792
scholarrs202232792
googlers202232792
pharmgkbrs202232792
gwascentralrs202232792
openSNPrs202232792
23andMers202232792
23andMe allrs202232792
SNP Nexus

SNPshotrs202232792
SNPdbers202232792
MSV3drs202232792
GWAS Ctlgrs202232792
Max Magnitude0
ClinVar
Risk rs202232792(T;T)
Alt rs202232792(T;T)
Reference rs202232792(C;C)
Significance Probable-Pathogenic
Disease Ataxia
Variation info
Gene KIF1C
CLNDBN Ataxia, spastic, 2, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.4926868C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191100.1,