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rs1057518448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057518448(-;-)
Make rs1057518448(-;CA)
Make rs1057518448(CA;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2079356
GeneTSC2
is asnp
is mentioned by
dbSNPrs1057518448
dbSNP (classic)rs1057518448
ClinGenrs1057518448
ebirs1057518448
HLIrs1057518448
Exacrs1057518448
Gnomadrs1057518448
Varsomers1057518448
LitVarrs1057518448
Maprs1057518448
PheGenIrs1057518448
Biobankrs1057518448
1000 genomesrs1057518448
hgdprs1057518448
ensemblrs1057518448
geneviewrs1057518448
scholarrs1057518448
googlers1057518448
pharmgkbrs1057518448
gwascentralrs1057518448
openSNPrs1057518448
23andMers1057518448
SNPshotrs1057518448
SNPdbers1057518448
MSV3drs1057518448
GWAS Ctlgrs1057518448
Max Magnitude0
ClinVar
Risk rs1057518448(-;-)
Alt rs1057518448(-;-)
Reference Rs1057518448(AC;AC)
Significance Pathogenic
Disease not provided
Variation info
Gene TSC2
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.2129357_2129358delCA
CLNSRC
CLNACC RCV000414535.1,