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rs121964862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Tuberous Sclerosis Complex
Make rs121964862(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2063042
GeneTSC2
is asnp
is mentioned by
dbSNPrs121964862
dbSNP (classic)rs121964862
ClinGenrs121964862
ebirs121964862
HLIrs121964862
Exacrs121964862
Gnomadrs121964862
Varsomers121964862
LitVarrs121964862
Maprs121964862
PheGenIrs121964862
Biobankrs121964862
1000 genomesrs121964862
hgdprs121964862
ensemblrs121964862
geneviewrs121964862
scholarrs121964862
googlers121964862
pharmgkbrs121964862
gwascentralrs121964862
openSNPrs121964862
23andMers121964862
SNPshotrs121964862
SNPdbers121964862
MSV3drs121964862
GWAS Ctlgrs121964862
Max Magnitude6.3
OMIM191092
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121964862(T;T)
Alt rs121964862(T;T)
Reference Rs121964862(C;C)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome
Reversed 0
HGVS NC_000016.9:g.2113043C>T
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013208.23, RCV000042413.2,