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rs118203474

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203474(C;T)
Make rs118203474(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132911509
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203474
ebirs118203474
HLIrs118203474
Exacrs118203474
Varsomers118203474
Maprs118203474
PheGenIrs118203474
hapmaprs118203474
1000 genomesrs118203474
hgdprs118203474
ensemblrs118203474
gopubmedrs118203474
geneviewrs118203474
scholarrs118203474
googlers118203474
pharmgkbrs118203474
gwascentralrs118203474
openSNPrs118203474
23andMers118203474
23andMe allrs118203474
SNP Nexus

SNPshotrs118203474
SNPdbers118203474
MSV3drs118203474
GWAS Ctlgrs118203474
Max Magnitude0
ClinVar
Risk rs118203474(T;T)
Alt rs118203474(T;T)
Reference rs118203474(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.135786896G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042385.2, RCV000201208.1,