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rs118203527

From SNPedia

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


Make rs118203527(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132906735
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203527
dbSNP (classic)rs118203527
ClinGenrs118203527
ebirs118203527
HLIrs118203527
Exacrs118203527
Gnomadrs118203527
Varsomers118203527
LitVarrs118203527
Maprs118203527
PheGenIrs118203527
Biobankrs118203527
1000 genomesrs118203527
hgdprs118203527
ensemblrs118203527
geneviewrs118203527
scholarrs118203527
googlers118203527
pharmgkbrs118203527
gwascentralrs118203527
openSNPrs118203527
23andMers118203527
SNPshotrs118203527
SNPdbers118203527
MSV3drs118203527
GWAS Ctlgrs118203527
Max Magnitude6.3
ClinVar
Risk rs118203527(-;-)
Alt rs118203527(-;-)
Reference Rs118203527(AGAA;AGAA)
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.135782122_135782125delTTCT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042026.2, RCV000201075.1,