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rs587778791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587778791(-;-)
Make rs587778791(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position240757337
GeneKIF1A
is asnp
is mentioned by
dbSNPrs587778791
dbSNP (classic)rs587778791
ClinGenrs587778791
ebirs587778791
HLIrs587778791
Exacrs587778791
Gnomadrs587778791
Varsomers587778791
LitVarrs587778791
Maprs587778791
PheGenIrs587778791
Biobankrs587778791
1000 genomesrs587778791
hgdprs587778791
ensemblrs587778791
geneviewrs587778791
scholarrs587778791
googlers587778791
pharmgkbrs587778791
gwascentralrs587778791
openSNPrs587778791
23andMers587778791
SNPshotrs587778791
SNPdbers587778791
MSV3drs587778791
GWAS Ctlgrs587778791
Max Magnitude0
ClinVar
Risk rs587778791(-;-)
Alt rs587778791(-;-)
Reference Rs587778791(T;T)
Significance Pathogenic
Disease Hereditary sensory and autonomic neuropathy type IIA
Variation info
Gene KIF1A
CLNDBN Hereditary sensory and autonomic neuropathy type IIA
Reversed 1
HGVS NC_000002.11:g.241696754delA
CLNSRC
CLNACC RCV000056104.1,