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rs879255517

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255517(-;-)
Make rs879255517(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position57751655
GeneKATNB1
is asnp
is mentioned by
dbSNPrs879255517
ebirs879255517
HLIrs879255517
Exacrs879255517
Varsomers879255517
Maprs879255517
PheGenIrs879255517
hapmaprs879255517
1000 genomesrs879255517
hgdprs879255517
ensemblrs879255517
gopubmedrs879255517
geneviewrs879255517
scholarrs879255517
googlers879255517
pharmgkbrs879255517
gwascentralrs879255517
openSNPrs879255517
23andMers879255517
23andMe allrs879255517
SNP Nexus

SNPshotrs879255517
SNPdbers879255517
MSV3drs879255517
GWAS Ctlgrs879255517
Max Magnitude0
ClinVar
Risk rs879255517(;)
Alt rs879255517(;)
Reference rs879255517(C;C)
Significance Pathogenic
Disease Lissencephaly 6
Variation info
Gene KATNB1
CLNDBN Lissencephaly 6, with microcephaly
Reversed 0
HGVS NC_000016.9:g.57785567delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000157599.4,