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rs118203537

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203537(C;T)
Make rs118203537(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position132906080
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203537
dbSNP (old)rs118203537
ClinGenrs118203537
ebirs118203537
HLIrs118203537
Exacrs118203537
Gnomadrs118203537
Varsomers118203537
Maprs118203537
PheGenIrs118203537
Biobankrs118203537
1000 genomesrs118203537
hgdprs118203537
ensemblrs118203537
gopubmedrs118203537
geneviewrs118203537
scholarrs118203537
googlers118203537
pharmgkbrs118203537
gwascentralrs118203537
openSNPrs118203537
23andMers118203537
23andMe allrs118203537
SNPshotrs118203537
SNPdbers118203537
MSV3drs118203537
GWAS Ctlgrs118203537
Max Magnitude0
ClinVar
Risk rs118203537(T;T)
Alt rs118203537(T;T)
Reference Rs118203537(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135781467G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042038.2, RCV000254845.1, RCV000474016.1,