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rs118203479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs118203479(-;-)
Make rs118203479(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132911492
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203479
dbSNP (classic)rs118203479
ClinGenrs118203479
ebirs118203479
HLIrs118203479
Exacrs118203479
Gnomadrs118203479
Varsomers118203479
LitVarrs118203479
Maprs118203479
PheGenIrs118203479
Biobankrs118203479
1000 genomesrs118203479
hgdprs118203479
ensemblrs118203479
geneviewrs118203479
scholarrs118203479
googlers118203479
pharmgkbrs118203479
gwascentralrs118203479
openSNPrs118203479
23andMers118203479
SNPshotrs118203479
SNPdbers118203479
MSV3drs118203479
GWAS Ctlgrs118203479
Max Magnitude0
ClinVar
Risk rs118203479(-;-)
Alt rs118203479(-;-)
Reference Rs118203479(TG;TG)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135786879_135786880delCA
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042389.2, RCV000201052.1,