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rs397514871

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514871(C;T)
Make rs397514871(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132897538
GeneTSC1
is asnp
is mentioned by
dbSNPrs397514871
ebirs397514871
HLIrs397514871
Exacrs397514871
Varsomers397514871
Maprs397514871
PheGenIrs397514871
hapmaprs397514871
1000 genomesrs397514871
hgdprs397514871
ensemblrs397514871
gopubmedrs397514871
geneviewrs397514871
scholarrs397514871
googlers397514871
pharmgkbrs397514871
gwascentralrs397514871
openSNPrs397514871
23andMers397514871
23andMe allrs397514871
SNP Nexus

SNPshotrs397514871
SNPdbers397514871
MSV3drs397514871
GWAS Ctlgrs397514871
Max Magnitude0
ClinVar
Risk rs397514871(T;T)
Alt rs397514871(T;T)
Reference rs397514871(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.135772925G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000055019.1, RCV000201112.1,