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rs1057518686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518686(A;A)
Make rs1057518686(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position89935433
GeneTUBB3
is asnp
is mentioned by
dbSNPrs1057518686
dbSNP (classic)rs1057518686
ClinGenrs1057518686
ebirs1057518686
HLIrs1057518686
Exacrs1057518686
Gnomadrs1057518686
Varsomers1057518686
LitVarrs1057518686
Maprs1057518686
PheGenIrs1057518686
Biobankrs1057518686
1000 genomesrs1057518686
hgdprs1057518686
ensemblrs1057518686
geneviewrs1057518686
scholarrs1057518686
googlers1057518686
pharmgkbrs1057518686
gwascentralrs1057518686
openSNPrs1057518686
23andMers1057518686
23andMe allrs1057518686
SNPshotrs1057518686
SNPdbers1057518686
MSV3drs1057518686
GWAS Ctlgrs1057518686
Max Magnitude0
ClinVar
Risk rs1057518686(A;A)
Alt rs1057518686(A;A)
Reference Rs1057518686(G;G)
Significance Probable-Pathogenic
Disease Cortical dysplasia
Variation info
Gene TUBB3
CLNDBN Cortical dysplasia, complex, with other brain malformations 1
Reversed 0
HGVS NC_000016.9:g.90001841G>A
CLNSRC
CLNACC RCV000415062.1,