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rs118203477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs118203477(-;-)
Make rs118203477(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132911493
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203477
dbSNP (classic)rs118203477
ClinGenrs118203477
ebirs118203477
HLIrs118203477
Exacrs118203477
Gnomadrs118203477
Varsomers118203477
LitVarrs118203477
Maprs118203477
PheGenIrs118203477
Biobankrs118203477
1000 genomesrs118203477
hgdprs118203477
ensemblrs118203477
geneviewrs118203477
scholarrs118203477
googlers118203477
pharmgkbrs118203477
gwascentralrs118203477
openSNPrs118203477
23andMers118203477
23andMe allrs118203477
SNPshotrs118203477
SNPdbers118203477
MSV3drs118203477
GWAS Ctlgrs118203477
Max Magnitude0
ClinVar
Risk rs118203477(-;-)
Alt rs118203477(-;-)
Reference Rs118203477(CT;CT)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135786880_135786881delAG
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042387.2, RCV000491469.1,