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rs397514875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514875(-;-)
Make rs397514875(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132897564
GeneTSC1
is asnp
is mentioned by
dbSNPrs397514875
dbSNP (classic)rs397514875
ClinGenrs397514875
ebirs397514875
HLIrs397514875
Exacrs397514875
Gnomadrs397514875
Varsomers397514875
LitVarrs397514875
Maprs397514875
PheGenIrs397514875
Biobankrs397514875
1000 genomesrs397514875
hgdprs397514875
ensemblrs397514875
geneviewrs397514875
scholarrs397514875
googlers397514875
pharmgkbrs397514875
gwascentralrs397514875
openSNPrs397514875
23andMers397514875
SNPshotrs397514875
SNPdbers397514875
MSV3drs397514875
GWAS Ctlgrs397514875
Max Magnitude0
ClinVar
Risk rs397514875(-;-)
Alt rs397514875(-;-)
Reference Rs397514875(A;A)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1
Reversed 1
HGVS NC_000009.11:g.135772951delT
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000055029.1, RCV000201176.1,