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

rs118203597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs118203597(-;-)
Make rs118203597(-;AC)
Make rs118203597(AC;AC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132905674
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203597
ClinGenrs118203597
ebirs118203597
HLIrs118203597
Exacrs118203597
Varsomers118203597
Maprs118203597
PheGenIrs118203597
hapmaprs118203597
1000 genomesrs118203597
hgdprs118203597
ensemblrs118203597
gopubmedrs118203597
geneviewrs118203597
scholarrs118203597
googlers118203597
pharmgkbrs118203597
gwascentralrs118203597
openSNPrs118203597
23andMers118203597
23andMe allrs118203597
SNP Nexus

SNPshotrs118203597
SNPdbers118203597
MSV3drs118203597
GWAS Ctlgrs118203597
Merged fromRs118203598
Max Magnitude0
ClinVar
Risk Rs118203597(CA;CA) rs118203597(-;-)
Alt Rs118203597(CA;CA) rs118203597(-;-)
Reference rs118203597(AC;AC)
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,