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rs118203396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203396(C;C)
Make rs118203396(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132921943
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203396
ebirs118203396
HLIrs118203396
Exacrs118203396
Varsomers118203396
Maprs118203396
PheGenIrs118203396
hapmaprs118203396
1000 genomesrs118203396
hgdprs118203396
ensemblrs118203396
gopubmedrs118203396
geneviewrs118203396
scholarrs118203396
googlers118203396
pharmgkbrs118203396
gwascentralrs118203396
openSNPrs118203396
23andMers118203396
23andMe allrs118203396
SNP Nexus

SNPshotrs118203396
SNPdbers118203396
MSV3drs118203396
GWAS Ctlgrs118203396
Max Magnitude0
OMIM605284
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118203396(C;C)
Alt rs118203396(C;C)
Reference rs118203396(T;T)
Significance Pathogenic
Disease Tuberous sclerosis 1 Tuberous sclerosis syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis 1 Tuberous sclerosis syndrome
Reversed 1
HGVS NC_000009.11:g.135797330A>G
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005412.2, RCV000042306.2,


[PMID 18830229OA-icon.png] Missense mutations to the TSC1 gene cause tuberous sclerosis complex.