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rs118203506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6.3 Tuberous Sclerosis Complex
(C;C) 0 common in clinvar


Make rs118203506(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132910577
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203506
dbSNP (classic)rs118203506
ClinGenrs118203506
ebirs118203506
HLIrs118203506
Exacrs118203506
Gnomadrs118203506
Varsomers118203506
LitVarrs118203506
Maprs118203506
PheGenIrs118203506
Biobankrs118203506
1000 genomesrs118203506
hgdprs118203506
ensemblrs118203506
geneviewrs118203506
scholarrs118203506
googlers118203506
pharmgkbrs118203506
gwascentralrs118203506
openSNPrs118203506
23andMers118203506
SNPshotrs118203506
SNPdbers118203506
MSV3drs118203506
GWAS Ctlgrs118203506
Max Magnitude6.3
ClinVar
Risk rs118203506(-;-)
Alt rs118203506(-;-)
Reference Rs118203506(C;C)
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.135785964delG
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042000.2, RCV000201015.1,