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rs148934699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148934699(C;T)
Make rs148934699(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position5022180
GeneKIF1C
is asnp
is mentioned by
dbSNPrs148934699
dbSNP (classic)rs148934699
ClinGenrs148934699
ebirs148934699
HLIrs148934699
Exacrs148934699
Gnomadrs148934699
Varsomers148934699
LitVarrs148934699
Maprs148934699
PheGenIrs148934699
Biobankrs148934699
1000 genomesrs148934699
hgdprs148934699
ensemblrs148934699
geneviewrs148934699
scholarrs148934699
googlers148934699
pharmgkbrs148934699
gwascentralrs148934699
openSNPrs148934699
23andMers148934699
SNPshotrs148934699
SNPdbers148934699
MSV3drs148934699
GWAS Ctlgrs148934699
Max Magnitude0
ClinVar
Risk rs148934699(T;T)
Alt rs148934699(T;T)
Reference Rs148934699(C;C)
Significance Probable-Pathogenic
Disease Ataxia not provided not specified
Variation info
Gene KIF1C
CLNDBN Ataxia, spastic, 2, autosomal recessive not provided not specified
Reversed 0
HGVS NC_000017.10:g.4925475C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191099.1, RCV000415815.1, RCV000494416.1,