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rs137854379

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854379(-;-)
Make rs137854379(-;AT)
Make rs137854379(AT;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2074335
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854379
ebirs137854379
HLIrs137854379
Exacrs137854379
Varsomers137854379
Maprs137854379
PheGenIrs137854379
hapmaprs137854379
1000 genomesrs137854379
hgdprs137854379
ensemblrs137854379
gopubmedrs137854379
geneviewrs137854379
scholarrs137854379
googlers137854379
pharmgkbrs137854379
gwascentralrs137854379
openSNPrs137854379
23andMers137854379
23andMe allrs137854379
SNP Nexus

SNPshotrs137854379
SNPdbers137854379
MSV3drs137854379
GWAS Ctlgrs137854379
Max Magnitude0
ClinVar
Risk rs137854379(AA,AAT;AA,AAT)
Alt rs137854379(AA,AAT;AA,AAT)
Reference rs137854379(A;A)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2124336_2124337insAT; NC_000016.9:g.2124336dupA
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043018.2, RCV000190059.1,