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rs397514842

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514842(A;A)
Make rs397514842(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132904410
GeneTSC1
is asnp
is mentioned by
dbSNPrs397514842
ebirs397514842
HLIrs397514842
Exacrs397514842
Varsomers397514842
Maprs397514842
PheGenIrs397514842
hapmaprs397514842
1000 genomesrs397514842
hgdprs397514842
ensemblrs397514842
gopubmedrs397514842
geneviewrs397514842
scholarrs397514842
googlers397514842
pharmgkbrs397514842
gwascentralrs397514842
openSNPrs397514842
23andMers397514842
23andMe allrs397514842
SNP Nexus

SNPshotrs397514842
SNPdbers397514842
MSV3drs397514842
GWAS Ctlgrs397514842
Max Magnitude0
ClinVar
Risk rs397514842(A;A)
Alt rs397514842(A;A)
Reference rs397514842(G;G)
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.135779797C>T
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000054979.1, RCV000201001.1,