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rs118203352

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203352(A;C)
Make rs118203352(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132925741
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203352
ebirs118203352
HLIrs118203352
Exacrs118203352
Varsomers118203352
Maprs118203352
PheGenIrs118203352
hapmaprs118203352
1000 genomesrs118203352
hgdprs118203352
ensemblrs118203352
gopubmedrs118203352
geneviewrs118203352
scholarrs118203352
googlers118203352
pharmgkbrs118203352
gwascentralrs118203352
openSNPrs118203352
23andMers118203352
23andMe allrs118203352
SNP Nexus

SNPshotrs118203352
SNPdbers118203352
MSV3drs118203352
GWAS Ctlgrs118203352
Max Magnitude0
ClinVar
Risk rs118203352(C;C)
Alt rs118203352(C;C)
Reference rs118203352(A;A)
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.135801128T>G
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042154.2, RCV000201170.1,