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rs730880257

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880257(C;T)
Make rs730880257(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position57755878
GeneKATNB1
is asnp
is mentioned by
dbSNPrs730880257
ebirs730880257
HLIrs730880257
Exacrs730880257
Varsomers730880257
Maprs730880257
PheGenIrs730880257
hapmaprs730880257
1000 genomesrs730880257
hgdprs730880257
ensemblrs730880257
gopubmedrs730880257
geneviewrs730880257
scholarrs730880257
googlers730880257
pharmgkbrs730880257
gwascentralrs730880257
openSNPrs730880257
23andMers730880257
23andMe allrs730880257
SNP Nexus

SNPshotrs730880257
SNPdbers730880257
MSV3drs730880257
GWAS Ctlgrs730880257
Max Magnitude0
ClinVar
Risk rs730880257(T;T)
Alt rs730880257(T;T)
Reference rs730880257(C;C)
Significance Pathogenic
Disease Lissencephaly 6
Variation info
Gene KATNB1
CLNDBN Lissencephaly 6, with microcephaly
Reversed 0
HGVS NC_000016.9:g.57789790C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157597.4,