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rs730880258

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880258(G;G)
Make rs730880258(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position57755893
GeneKATNB1
is asnp
is mentioned by
dbSNPrs730880258
ebirs730880258
HLIrs730880258
Exacrs730880258
Varsomers730880258
Maprs730880258
PheGenIrs730880258
hapmaprs730880258
1000 genomesrs730880258
hgdprs730880258
ensemblrs730880258
gopubmedrs730880258
geneviewrs730880258
scholarrs730880258
googlers730880258
pharmgkbrs730880258
gwascentralrs730880258
openSNPrs730880258
23andMers730880258
23andMe allrs730880258
SNP Nexus

SNPshotrs730880258
SNPdbers730880258
MSV3drs730880258
GWAS Ctlgrs730880258
Max Magnitude0
ClinVar
Risk rs730880258(G;G)
Alt rs730880258(G;G)
Reference rs730880258(T;T)
Significance Pathogenic
Disease Lissencephaly 6
Variation info
Gene KATNB1
CLNDBN Lissencephaly 6, with microcephaly
Reversed 0
HGVS NC_000016.9:g.57789805T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000157598.4,