Have questions? Visit https://www.reddit.com/r/SNPedia

rs118203576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203576(A;G)
Make rs118203576(G;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position132905818
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203576
ebirs118203576
HLIrs118203576
Exacrs118203576
Varsomers118203576
Maprs118203576
PheGenIrs118203576
hapmaprs118203576
1000 genomesrs118203576
hgdprs118203576
ensemblrs118203576
gopubmedrs118203576
geneviewrs118203576
scholarrs118203576
googlers118203576
pharmgkbrs118203576
gwascentralrs118203576
openSNPrs118203576
23andMers118203576
23andMe allrs118203576
SNP Nexus

SNPshotrs118203576
SNPdbers118203576
MSV3drs118203576
GWAS Ctlgrs118203576
GMAF0.02204
Max Magnitude0
OMIM605284
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203576(G;G)
Alt rs118203576(G;G)
Reference rs118203576(A;A)
Significance Other
Disease Tuberous sclerosis 1 Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis 1 Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135781205T>C
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC1)
CLNACC RCV000005405.3, RCV000042078.2, RCV000118691.4, RCV000163265.2, RCV000224245.1,


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


[PMID 9924605] Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.


[PMID 16114042] Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.


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