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rs118203345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203345(C;C)
Make rs118203345(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132927229
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203345
dbSNP (old)rs118203345
ClinGenrs118203345
ebirs118203345
HLIrs118203345
Exacrs118203345
Gnomadrs118203345
Varsomers118203345
Maprs118203345
PheGenIrs118203345
Biobankrs118203345
1000 genomesrs118203345
hgdprs118203345
ensemblrs118203345
gopubmedrs118203345
geneviewrs118203345
scholarrs118203345
googlers118203345
pharmgkbrs118203345
gwascentralrs118203345
openSNPrs118203345
23andMers118203345
23andMe allrs118203345
SNPshotrs118203345
SNPdbers118203345
MSV3drs118203345
GWAS Ctlgrs118203345
Max Magnitude0
ClinVar
Risk rs118203345(C;C) rs118203345(G;G)
Alt rs118203345(C;C) rs118203345(G;G)
Reference Rs118203345(T;T)
Significance Probable-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.135802616A>C; NC_000009.11:g.135802616A>G
CLNSRC Tuberous sclerosis database (TSC1) UniProtKB (protein)
CLNACC RCV000054934.1, RCV000461024.1, RCV000042091.2,