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rs118203478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs118203478(-;T)
Make rs118203478(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132911492
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203478
dbSNP (old)rs118203478
ClinGenrs118203478
ebirs118203478
HLIrs118203478
Exacrs118203478
Gnomadrs118203478
Varsomers118203478
Maprs118203478
PheGenIrs118203478
Biobankrs118203478
1000 genomesrs118203478
hgdprs118203478
ensemblrs118203478
gopubmedrs118203478
geneviewrs118203478
scholarrs118203478
googlers118203478
pharmgkbrs118203478
gwascentralrs118203478
openSNPrs118203478
23andMers118203478
23andMe allrs118203478
SNP Nexus

SNPshotrs118203478
SNPdbers118203478
MSV3drs118203478
GWAS Ctlgrs118203478
Max Magnitude0
ClinVar
Risk rs118203478(TT;TT) rs118203478(T;T)
Alt rs118203478(TT;TT) rs118203478(T;T)
Reference Rs118203478(-;-)
Significance Pathogenic
Disease not provided Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical dysplasia Renal cortical cysts Renal insufficiency Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN not provided Tuberous sclerosis syndrome Tuberous sclerosis 1 Cortical dysplasia Renal cortical cysts Renal insufficiency Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135786879_135786880insAA; NC_000009.11:g.135786880dupA
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000481025.1, RCV000042390.2, RCV000189866.2, RCV000201139.1, RCV000414909.1, RCV000491374.1,