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rs118203727

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203727(C;T)
Make rs118203727(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position132897547
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203727
dbSNP (old)rs118203727
ClinGenrs118203727
ebirs118203727
HLIrs118203727
Exacrs118203727
Gnomadrs118203727
Varsomers118203727
Maprs118203727
PheGenIrs118203727
Biobankrs118203727
1000 genomesrs118203727
hgdprs118203727
ensemblrs118203727
gopubmedrs118203727
geneviewrs118203727
scholarrs118203727
googlers118203727
pharmgkbrs118203727
gwascentralrs118203727
openSNPrs118203727
23andMers118203727
23andMe allrs118203727
SNPshotrs118203727
SNPdbers118203727
MSV3drs118203727
GWAS Ctlgrs118203727
Max Magnitude0
ClinVar
Risk rs118203727(T;T)
Alt rs118203727(T;T)
Reference Rs118203727(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135772934G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042242.2, RCV000255974.1, RCV000490863.1,