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rs1060500972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500972(G;T)
Make rs1060500972(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position2085027
GeneTSC2
is asnp
is mentioned by
dbSNPrs1060500972
dbSNP (classic)rs1060500972
ClinGenrs1060500972
ebirs1060500972
HLIrs1060500972
Exacrs1060500972
Gnomadrs1060500972
Varsomers1060500972
LitVarrs1060500972
Maprs1060500972
PheGenIrs1060500972
Biobankrs1060500972
1000 genomesrs1060500972
hgdprs1060500972
ensemblrs1060500972
geneviewrs1060500972
scholarrs1060500972
googlers1060500972
pharmgkbrs1060500972
gwascentralrs1060500972
openSNPrs1060500972
23andMers1060500972
23andMe allrs1060500972
SNPshotrs1060500972
SNPdbers1060500972
MSV3drs1060500972
GWAS Ctlgrs1060500972
Max Magnitude0
ClinVar
Risk rs1060500972(T;T)
Alt rs1060500972(T;T)
Reference Rs1060500972(G;G)
Significance Probable-Pathogenic
Disease Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2135028G>T
CLNSRC
CLNACC RCV000463381.1,