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rs45517352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Tuberous Sclerosis Complex
Make rs45517352(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2085233
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517352
dbSNP (classic)rs45517352
ClinGenrs45517352
ebirs45517352
HLIrs45517352
Exacrs45517352
Gnomadrs45517352
Varsomers45517352
LitVarrs45517352
Maprs45517352
PheGenIrs45517352
Biobankrs45517352
1000 genomesrs45517352
hgdprs45517352
ensemblrs45517352
geneviewrs45517352
scholarrs45517352
googlers45517352
pharmgkbrs45517352
gwascentralrs45517352
openSNPrs45517352
23andMers45517352
SNPshotrs45517352
SNPdbers45517352
MSV3drs45517352
GWAS Ctlgrs45517352
Max Magnitude6.3
ClinVar
Risk rs45517352(A;A) rs45517352(T;T)
Alt rs45517352(A;A) rs45517352(T;T)
Reference Rs45517352(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2135234C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042565.2, RCV000190034.1,