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rs730880259

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880259(G;T)
Make rs730880259(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position57741743
GeneKATNB1
is asnp
is mentioned by
dbSNPrs730880259
ebirs730880259
HLIrs730880259
Exacrs730880259
Varsomers730880259
Maprs730880259
PheGenIrs730880259
hapmaprs730880259
1000 genomesrs730880259
hgdprs730880259
ensemblrs730880259
gopubmedrs730880259
geneviewrs730880259
scholarrs730880259
googlers730880259
pharmgkbrs730880259
gwascentralrs730880259
openSNPrs730880259
23andMers730880259
23andMe allrs730880259
SNP Nexus

SNPshotrs730880259
SNPdbers730880259
MSV3drs730880259
GWAS Ctlgrs730880259
Max Magnitude0
ClinVar
Risk rs730880259(T;T)
Alt rs730880259(T;T)
Reference rs730880259(G;G)
Significance Pathogenic
Disease Lissencephaly 6
Variation info
Gene KATNB1
CLNDBN Lissencephaly 6, with microcephaly
Reversed 0
HGVS NC_000016.9:g.57775655G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157601.4,