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rs587777035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777035(A;T)
Make rs587777035(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position148947019
GeneKIF5C
is asnp
is mentioned by
dbSNPrs587777035
dbSNP (classic)rs587777035
ClinGenrs587777035
ebirs587777035
HLIrs587777035
Exacrs587777035
Gnomadrs587777035
Varsomers587777035
LitVarrs587777035
Maprs587777035
PheGenIrs587777035
Biobankrs587777035
1000 genomesrs587777035
hgdprs587777035
ensemblrs587777035
geneviewrs587777035
scholarrs587777035
googlers587777035
pharmgkbrs587777035
gwascentralrs587777035
openSNPrs587777035
23andMers587777035
SNPshotrs587777035
SNPdbers587777035
MSV3drs587777035
GWAS Ctlgrs587777035
Max Magnitude0
ClinVar
Risk rs587777035(T;T)
Alt rs587777035(T;T)
Reference Rs587777035(A;A)
Significance Pathogenic
Disease Cortical dysplasia
Variation info
Gene KIF5C
CLNDBN Cortical dysplasia, complex, with other brain malformations 2
Reversed 0
HGVS NC_000002.11:g.149803533A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000055625.3,