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rs137854359

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6.3 Tuberous Sclerosis Complex
Make rs137854359(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2055489
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854359
dbSNP (classic)rs137854359
ClinGenrs137854359
ebirs137854359
HLIrs137854359
Exacrs137854359
Gnomadrs137854359
Varsomers137854359
LitVarrs137854359
Maprs137854359
PheGenIrs137854359
Biobankrs137854359
1000 genomesrs137854359
hgdprs137854359
ensemblrs137854359
geneviewrs137854359
scholarrs137854359
googlers137854359
pharmgkbrs137854359
gwascentralrs137854359
openSNPrs137854359
23andMers137854359
SNPshotrs137854359
SNPdbers137854359
MSV3drs137854359
GWAS Ctlgrs137854359
Max Magnitude6.3
ClinVar
Risk rs137854359(A;A)
Alt rs137854359(A;A)
Reference Rs137854359(-;-)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2105490dupA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043304.2, RCV000201021.1,