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rs118203426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203426(G;G)
Make rs118203426(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132921429
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203426
ebirs118203426
HLIrs118203426
Exacrs118203426
Varsomers118203426
Maprs118203426
PheGenIrs118203426
hapmaprs118203426
1000 genomesrs118203426
hgdprs118203426
ensemblrs118203426
gopubmedrs118203426
geneviewrs118203426
scholarrs118203426
googlers118203426
pharmgkbrs118203426
gwascentralrs118203426
openSNPrs118203426
23andMers118203426
23andMe allrs118203426
SNP Nexus

SNPshotrs118203426
SNPdbers118203426
MSV3drs118203426
GWAS Ctlgrs118203426
Max Magnitude0
OMIM605284
Desc
Variant0008
Relatedalso
ClinVar
Risk rs118203426(G;G)
Alt rs118203426(G;G)
Reference rs118203426(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.135796816A>C
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005411.2, RCV000042336.2,


[PMID 10227394OA-icon.png] Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.


[PMID 18032745] Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.


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