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rs397514867

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514867(C;G)
Make rs397514867(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132912329
GeneTSC1
is asnp
is mentioned by
dbSNPrs397514867
ebirs397514867
HLIrs397514867
Exacrs397514867
Varsomers397514867
Maprs397514867
PheGenIrs397514867
hapmaprs397514867
1000 genomesrs397514867
hgdprs397514867
ensemblrs397514867
gopubmedrs397514867
geneviewrs397514867
scholarrs397514867
googlers397514867
pharmgkbrs397514867
gwascentralrs397514867
openSNPrs397514867
23andMers397514867
23andMe allrs397514867
SNP Nexus

SNPshotrs397514867
SNPdbers397514867
MSV3drs397514867
GWAS Ctlgrs397514867
Max Magnitude0
ClinVar
Risk rs397514867(G;G)
Alt rs397514867(G;G)
Reference rs397514867(C;C)
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.135787716G>C
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000055015.1, RCV000201058.1,