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rs397515087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.3 Tuberous Sclerosis Complex
(C;C) 0 common in clinvar


Make rs397515087(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2079380
GeneTSC2
is asnp
is mentioned by
dbSNPrs397515087
dbSNP (classic)rs397515087
ClinGenrs397515087
ebirs397515087
HLIrs397515087
Exacrs397515087
Gnomadrs397515087
Varsomers397515087
LitVarrs397515087
Maprs397515087
PheGenIrs397515087
Biobankrs397515087
1000 genomesrs397515087
hgdprs397515087
ensemblrs397515087
geneviewrs397515087
scholarrs397515087
googlers397515087
pharmgkbrs397515087
gwascentralrs397515087
openSNPrs397515087
23andMers397515087
SNPshotrs397515087
SNPdbers397515087
MSV3drs397515087
GWAS Ctlgrs397515087
Max Magnitude6.3
ClinVar
Risk rs397515087(A;A) rs397515087(G;G)
Alt rs397515087(A;A) rs397515087(G;G)
Reference Rs397515087(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2129381C>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000055329.1, RCV000190073.1,