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rs137854331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAT;CAT) 0 common in clinvar
Make rs137854331(-;-)
Make rs137854331(-;CAT)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2086372
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854331
dbSNP (old)rs137854331
ClinGenrs137854331
ebirs137854331
HLIrs137854331
Exacrs137854331
Gnomadrs137854331
Varsomers137854331
Maprs137854331
PheGenIrs137854331
Biobankrs137854331
1000 genomesrs137854331
hgdprs137854331
ensemblrs137854331
gopubmedrs137854331
geneviewrs137854331
scholarrs137854331
googlers137854331
pharmgkbrs137854331
gwascentralrs137854331
openSNPrs137854331
23andMers137854331
23andMe allrs137854331
SNP Nexus

SNPshotrs137854331
SNPdbers137854331
MSV3drs137854331
GWAS Ctlgrs137854331
Max Magnitude0
ClinVar
Risk rs137854331(-;-)
Alt rs137854331(-;-)
Reference Rs137854331(CAT;CAT)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2136373_2136375delCAT
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042585.2, RCV000201210.1,