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rs587777197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777197(C;T)
Make rs587777197(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position5022272
GeneKIF1C
is asnp
is mentioned by
dbSNPrs587777197
ebirs587777197
HLIrs587777197
Exacrs587777197
Varsomers587777197
Maprs587777197
PheGenIrs587777197
hapmaprs587777197
1000 genomesrs587777197
hgdprs587777197
ensemblrs587777197
gopubmedrs587777197
geneviewrs587777197
scholarrs587777197
googlers587777197
pharmgkbrs587777197
gwascentralrs587777197
openSNPrs587777197
23andMers587777197
23andMe allrs587777197
SNP Nexus

SNPshotrs587777197
SNPdbers587777197
MSV3drs587777197
GWAS Ctlgrs587777197
Max Magnitude0
ClinVar
Risk rs587777197(T;T)
Alt rs587777197(T;T)
Reference rs587777197(C;C)
Significance Pathogenic
Disease Ataxia
Variation info
Gene KIF1C
CLNDBN Ataxia, spastic, 2, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.4925567C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087323.4,