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rs118203439

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203439(A;G)
Make rs118203439(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132921360
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203439
dbSNP (old)rs118203439
ClinGenrs118203439
ebirs118203439
HLIrs118203439
Exacrs118203439
Gnomadrs118203439
Varsomers118203439
Maprs118203439
PheGenIrs118203439
Biobankrs118203439
1000 genomesrs118203439
hgdprs118203439
ensemblrs118203439
gopubmedrs118203439
geneviewrs118203439
scholarrs118203439
googlers118203439
pharmgkbrs118203439
gwascentralrs118203439
openSNPrs118203439
23andMers118203439
23andMe allrs118203439
SNPshotrs118203439
SNPdbers118203439
MSV3drs118203439
GWAS Ctlgrs118203439
Max Magnitude0
ClinVar
Risk rs118203439(G;G)
Alt rs118203439(G;G)
Reference Rs118203439(A;A)
Significance Probable-Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135796747T>C
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042347.2, RCV000189840.3,