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rs118203595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs118203595(-;-)
Make rs118203595(-;AAAG)
ReferenceGRCh38 38.1/141
Chromosome9
Position132905687
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203595
ebirs118203595
HLIrs118203595
Exacrs118203595
Varsomers118203595
Maprs118203595
PheGenIrs118203595
hapmaprs118203595
1000 genomesrs118203595
hgdprs118203595
ensemblrs118203595
gopubmedrs118203595
geneviewrs118203595
scholarrs118203595
googlers118203595
pharmgkbrs118203595
gwascentralrs118203595
openSNPrs118203595
23andMers118203595
23andMe allrs118203595
SNP Nexus

SNPshotrs118203595
SNPdbers118203595
MSV3drs118203595
GWAS Ctlgrs118203595
Max Magnitude0
ClinVar
Risk rs118203595(;)
Alt rs118203595(;)
Reference rs118203595(AAAG;AAAG)
Significance Pathogenic
Disease Tuberous sclerosis 1 Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis 1 Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135781074_135781077delCTTT
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005403.3, RCV000042099.2, RCV000189868.1,


[PMID 9242607] Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.


[PMID 9863590OA-icon.png] Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.


[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.