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rs879255518

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255518(A;G)
Make rs879255518(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position57737244
GeneKATNB1
is asnp
is mentioned by
dbSNPrs879255518
ebirs879255518
HLIrs879255518
Exacrs879255518
Varsomers879255518
Maprs879255518
PheGenIrs879255518
hapmaprs879255518
1000 genomesrs879255518
hgdprs879255518
ensemblrs879255518
gopubmedrs879255518
geneviewrs879255518
scholarrs879255518
googlers879255518
pharmgkbrs879255518
gwascentralrs879255518
openSNPrs879255518
23andMers879255518
23andMe allrs879255518
SNP Nexus

SNPshotrs879255518
SNPdbers879255518
MSV3drs879255518
GWAS Ctlgrs879255518
Max Magnitude0
ClinVar
Risk rs879255518(G;G)
Alt rs879255518(G;G)
Reference rs879255518(A;A)
Significance Pathogenic
Disease Lissencephaly 6
Variation info
Gene KATNB1
CLNDBN Lissencephaly 6, with microcephaly
Reversed 0
HGVS NC_000016.9:g.57771156A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000157600.3,