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rs118203434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Tuberous Sclerosis Complex
Make rs118203434(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132921367
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203434
dbSNP (classic)rs118203434
ClinGenrs118203434
ebirs118203434
HLIrs118203434
Exacrs118203434
Gnomadrs118203434
Varsomers118203434
LitVarrs118203434
Maprs118203434
PheGenIrs118203434
Biobankrs118203434
1000 genomesrs118203434
hgdprs118203434
ensemblrs118203434
geneviewrs118203434
scholarrs118203434
googlers118203434
pharmgkbrs118203434
gwascentralrs118203434
openSNPrs118203434
23andMers118203434
SNPshotrs118203434
SNPdbers118203434
MSV3drs118203434
GWAS Ctlgrs118203434
Max Magnitude6.3
ClinVar
Risk rs118203434(T;T)
Alt rs118203434(T;T)
Reference Rs118203434(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1 not provided Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1 not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135796754G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042345.2, RCV000201189.1, RCV000255397.1, RCV000491872.1,