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rs879255519

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255519(A;A)
Make rs879255519(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position57751303
GeneKATNB1
is asnp
is mentioned by
dbSNPrs879255519
ebirs879255519
HLIrs879255519
Exacrs879255519
Varsomers879255519
Maprs879255519
PheGenIrs879255519
hapmaprs879255519
1000 genomesrs879255519
hgdprs879255519
ensemblrs879255519
gopubmedrs879255519
geneviewrs879255519
scholarrs879255519
googlers879255519
pharmgkbrs879255519
gwascentralrs879255519
openSNPrs879255519
23andMers879255519
23andMe allrs879255519
SNP Nexus

SNPshotrs879255519
SNPdbers879255519
MSV3drs879255519
GWAS Ctlgrs879255519
Max Magnitude0
ClinVar
Risk rs879255519(A;A)
Alt rs879255519(A;A)
Reference rs879255519(G;G)
Significance Pathogenic
Disease Lissencephaly 6
Variation info
Gene KATNB1
CLNDBN Lissencephaly 6, with microcephaly
Reversed 0
HGVS NC_000016.9:g.57785215G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157602.4,