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rs397515297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.3 Tuberous Sclerosis Complex
Make rs397515297(A;A)
Make rs397515297(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2064275
GeneTSC2
is asnp
is mentioned by
dbSNPrs397515297
dbSNP (classic)rs397515297
ClinGenrs397515297
ebirs397515297
HLIrs397515297
Exacrs397515297
Gnomadrs397515297
Varsomers397515297
LitVarrs397515297
Maprs397515297
PheGenIrs397515297
Biobankrs397515297
1000 genomesrs397515297
hgdprs397515297
ensemblrs397515297
geneviewrs397515297
scholarrs397515297
googlers397515297
pharmgkbrs397515297
gwascentralrs397515297
openSNPrs397515297
23andMers397515297
SNPshotrs397515297
SNPdbers397515297
MSV3drs397515297
GWAS Ctlgrs397515297
Max Magnitude6.3
ClinVar
Risk rs397515297(A;A) rs397515297(T;T)
Alt rs397515297(A;A) rs397515297(T;T)
Reference Rs397515297(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000016.9:g.2114276G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000055085.1, RCV000201103.1, RCV000491130.1,