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rs45466296

From SNPedia

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


Make rs45466296(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2057179
GeneTSC2
is asnp
is mentioned by
dbSNPrs45466296
dbSNP (classic)rs45466296
ClinGenrs45466296
ebirs45466296
HLIrs45466296
Exacrs45466296
Gnomadrs45466296
Varsomers45466296
LitVarrs45466296
Maprs45466296
PheGenIrs45466296
Biobankrs45466296
1000 genomesrs45466296
hgdprs45466296
ensemblrs45466296
geneviewrs45466296
scholarrs45466296
googlers45466296
pharmgkbrs45466296
gwascentralrs45466296
openSNPrs45466296
23andMers45466296
SNPshotrs45466296
SNPdbers45466296
MSV3drs45466296
GWAS Ctlgrs45466296
Max Magnitude6.3
ClinVar
Risk rs45466296(A;A)
Alt rs45466296(A;A)
Reference Rs45466296(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2107180G>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043189.2, RCV000190083.1, RCV000201109.1,