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rs397514776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6.3 Tuberous Sclerosis Complex
(T;T) 0 common in clinvar


Make rs397514776(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position132925690
GeneTSC1
is asnp
is mentioned by
dbSNPrs397514776
dbSNP (classic)rs397514776
ClinGenrs397514776
ebirs397514776
HLIrs397514776
Exacrs397514776
Gnomadrs397514776
Varsomers397514776
LitVarrs397514776
Maprs397514776
PheGenIrs397514776
Biobankrs397514776
1000 genomesrs397514776
hgdprs397514776
ensemblrs397514776
geneviewrs397514776
scholarrs397514776
googlers397514776
pharmgkbrs397514776
gwascentralrs397514776
openSNPrs397514776
23andMers397514776
SNPshotrs397514776
SNPdbers397514776
MSV3drs397514776
GWAS Ctlgrs397514776
Max Magnitude6.3
ClinVar
Risk rs397514776(G;G)
Alt rs397514776(G;G)
Reference Rs397514776(T;T)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135801077A>C
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000054878.1, RCV000305404.1,