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rs118203440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203440(A;G)
Make rs118203440(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position132912459
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203440
dbSNP (old)rs118203440
ClinGenrs118203440
ebirs118203440
HLIrs118203440
Exacrs118203440
Gnomadrs118203440
Varsomers118203440
Maprs118203440
PheGenIrs118203440
Biobankrs118203440
1000 genomesrs118203440
hgdprs118203440
ensemblrs118203440
gopubmedrs118203440
geneviewrs118203440
scholarrs118203440
googlers118203440
pharmgkbrs118203440
gwascentralrs118203440
openSNPrs118203440
23andMers118203440
23andMe allrs118203440
SNPshotrs118203440
SNPdbers118203440
MSV3drs118203440
GWAS Ctlgrs118203440
Max Magnitude0
ClinVar
Risk rs118203440(G;G) rs118203440(T;T)
Alt rs118203440(G;G) rs118203440(T;T)
Reference Rs118203440(A;A)
Significance Pathogenic
Disease not provided Tuberous sclerosis syndrome
Variation info
Gene TSC1
CLNDBN not provided Tuberous sclerosis syndrome
Reversed 1
HGVS NC_000009.11:g.135787846T>A; NC_000009.11:g.135787846T>C
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000309855.1, RCV000042351.2,