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rs1060505021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060505021(C;T)
Make rs1060505021(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132921872
GeneTSC1
is asnp
is mentioned by
dbSNPrs1060505021
dbSNP (old)rs1060505021
ClinGenrs1060505021
ebirs1060505021
HLIrs1060505021
Exacrs1060505021
Gnomadrs1060505021
Varsomers1060505021
Maprs1060505021
PheGenIrs1060505021
Biobankrs1060505021
1000 genomesrs1060505021
hgdprs1060505021
ensemblrs1060505021
gopubmedrs1060505021
geneviewrs1060505021
scholarrs1060505021
googlers1060505021
pharmgkbrs1060505021
gwascentralrs1060505021
openSNPrs1060505021
23andMers1060505021
23andMe allrs1060505021
SNPshotrs1060505021
SNPdbers1060505021
MSV3drs1060505021
GWAS Ctlgrs1060505021
Max Magnitude0
ClinVar
Risk rs1060505021(T;T)
Alt rs1060505021(T;T)
Reference Rs1060505021(C;C)
Significance Pathogenic
Disease FOCAL CORTICAL DYSPLASIA
Variation info
Gene TSC1
CLNDBN FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
Reversed 1
HGVS NC_000009.11:g.135797259G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477742.1,