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rs587777198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777198(C;T)
Make rs587777198(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position5002539
GeneKIF1C
is asnp
is mentioned by
dbSNPrs587777198
dbSNP (classic)rs587777198
ClinGenrs587777198
ebirs587777198
HLIrs587777198
Exacrs587777198
Gnomadrs587777198
Varsomers587777198
LitVarrs587777198
Maprs587777198
PheGenIrs587777198
Biobankrs587777198
1000 genomesrs587777198
hgdprs587777198
ensemblrs587777198
geneviewrs587777198
scholarrs587777198
googlers587777198
pharmgkbrs587777198
gwascentralrs587777198
openSNPrs587777198
23andMers587777198
SNPshotrs587777198
SNPdbers587777198
MSV3drs587777198
GWAS Ctlgrs587777198
Max Magnitude0
ClinVar
Risk rs587777198(T;T)
Alt rs587777198(T;T)
Reference Rs587777198(C;C)
Significance Pathogenic
Disease Ataxia
Variation info
Gene KIF1C
CLNDBN Ataxia, spastic, 2, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.4905834C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000087324.4,