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rs137854380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854380(A;T)
Make rs137854380(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position2076066
GeneTSC2
is asnp
is mentioned by
dbSNPrs137854380
dbSNP (classic)rs137854380
ClinGenrs137854380
ebirs137854380
HLIrs137854380
Exacrs137854380
Gnomadrs137854380
Varsomers137854380
LitVarrs137854380
Maprs137854380
PheGenIrs137854380
Biobankrs137854380
1000 genomesrs137854380
hgdprs137854380
ensemblrs137854380
geneviewrs137854380
scholarrs137854380
googlers137854380
pharmgkbrs137854380
gwascentralrs137854380
openSNPrs137854380
23andMers137854380
SNPshotrs137854380
SNPdbers137854380
MSV3drs137854380
GWAS Ctlgrs137854380
Max Magnitude0
ClinVar
Risk rs137854380(G;G) rs137854380(T;T)
Alt rs137854380(G;G) rs137854380(T;T)
Reference Rs137854380(A;A)
Significance Pathogenic
Disease not provided Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN not provided Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2126067A>G; NC_000016.9:g.2126067A>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000275327.1, RCV000043352.2,