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rs118203464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs118203464(-;-)
Make rs118203464(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132912293
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203464
dbSNP (classic)rs118203464
ClinGenrs118203464
ebirs118203464
HLIrs118203464
Exacrs118203464
Gnomadrs118203464
Varsomers118203464
LitVarrs118203464
Maprs118203464
PheGenIrs118203464
Biobankrs118203464
1000 genomesrs118203464
hgdprs118203464
ensemblrs118203464
geneviewrs118203464
scholarrs118203464
googlers118203464
pharmgkbrs118203464
gwascentralrs118203464
openSNPrs118203464
23andMers118203464
SNPshotrs118203464
SNPdbers118203464
MSV3drs118203464
GWAS Ctlgrs118203464
Max Magnitude0
ClinVar
Risk rs118203464(-;-)
Alt rs118203464(-;-)
Reference Rs118203464(CA;CA)
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.135787680_135787681delTG
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042375.2, RCV000180495.2,