Have questions? Visit https://www.reddit.com/r/SNPedia

rs121964862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964862(C;T)
Make rs121964862(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2063042
GeneTSC2
is asnp
is mentioned by
dbSNPrs121964862
ebirs121964862
HLIrs121964862
Exacrs121964862
Varsomers121964862
Maprs121964862
PheGenIrs121964862
hapmaprs121964862
1000 genomesrs121964862
hgdprs121964862
ensemblrs121964862
gopubmedrs121964862
geneviewrs121964862
scholarrs121964862
googlers121964862
pharmgkbrs121964862
gwascentralrs121964862
openSNPrs121964862
23andMers121964862
23andMe allrs121964862
SNP Nexus

SNPshotrs121964862
SNPdbers121964862
MSV3drs121964862
GWAS Ctlgrs121964862
Max Magnitude0
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 RCV000013208.22, RCV000042413.2,