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rs118203542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Tuberous Sclerosis Complex
Make rs118203542(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132906053
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203542
dbSNP (classic)rs118203542
ClinGenrs118203542
ebirs118203542
HLIrs118203542
Exacrs118203542
Gnomadrs118203542
Varsomers118203542
LitVarrs118203542
Maprs118203542
PheGenIrs118203542
Biobankrs118203542
1000 genomesrs118203542
hgdprs118203542
ensemblrs118203542
geneviewrs118203542
scholarrs118203542
googlers118203542
pharmgkbrs118203542
gwascentralrs118203542
openSNPrs118203542
23andMers118203542
SNPshotrs118203542
SNPdbers118203542
MSV3drs118203542
GWAS Ctlgrs118203542
Max Magnitude6.3
ClinVar
Risk rs118203542(T;T)
Alt rs118203542(T;T)
Reference Rs118203542(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Malignant tumor of urinary bladder not provided Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Malignant tumor of urinary bladder not provided Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135781440G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042043.2, RCV000055036.1, RCV000189847.3, RCV000201132.1,