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rs118203598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs118203598(-;-)
Make rs118203598(-;CA)
ReferenceGRCh38 38.1/141
Chromosome9
Position132905673
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203598
ebirs118203598
HLIrs118203598
Exacrs118203598
Varsomers118203598
Maprs118203598
PheGenIrs118203598
hapmaprs118203598
1000 genomesrs118203598
hgdprs118203598
ensemblrs118203598
gopubmedrs118203598
geneviewrs118203598
scholarrs118203598
googlers118203598
pharmgkbrs118203598
gwascentralrs118203598
openSNPrs118203598
23andMers118203598
23andMe allrs118203598
SNP Nexus

SNPshotrs118203598
SNPdbers118203598
MSV3drs118203598
GWAS Ctlgrs118203598
Max Magnitude0
ClinVar
Risk rs118203598(;)
Alt rs118203598(;)
Reference rs118203598(CA;CA)
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.135781060_135781061delTG
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005406.2, RCV000042102.3,


[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.