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rs137854015

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6.3 Tuberous Sclerosis Complex
Make rs137854015(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2079163
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854015
dbSNP (classic)rs137854015
ClinGenrs137854015
ebirs137854015
HLIrs137854015
Exacrs137854015
Gnomadrs137854015
Varsomers137854015
LitVarrs137854015
Maprs137854015
PheGenIrs137854015
Biobankrs137854015
1000 genomesrs137854015
hgdprs137854015
ensemblrs137854015
geneviewrs137854015
scholarrs137854015
googlers137854015
pharmgkbrs137854015
gwascentralrs137854015
openSNPrs137854015
23andMers137854015
SNPshotrs137854015
SNPdbers137854015
MSV3drs137854015
GWAS Ctlgrs137854015
Max Magnitude6.3
ClinVar
Risk rs137854015(A;A)
Alt rs137854015(A;A)
Reference Rs137854015(-;-)
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.2129164dupA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042998.2, RCV000484132.1,