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rs45517255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6.3 Tuberous Sclerosis Complex
(T;T) 0 common in clinvar


Make rs45517255(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position2076118
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517255
dbSNP (classic)rs45517255
ClinGenrs45517255
ebirs45517255
HLIrs45517255
Exacrs45517255
Gnomadrs45517255
Varsomers45517255
LitVarrs45517255
Maprs45517255
PheGenIrs45517255
Biobankrs45517255
1000 genomesrs45517255
hgdprs45517255
ensemblrs45517255
geneviewrs45517255
scholarrs45517255
googlers45517255
pharmgkbrs45517255
gwascentralrs45517255
openSNPrs45517255
23andMers45517255
SNPshotrs45517255
SNPdbers45517255
MSV3drs45517255
GWAS Ctlgrs45517255
Max Magnitude6.3
ClinVar
Risk rs45517255(C;C)
Alt rs45517255(C;C)
Reference Rs45517255(T;T)
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.2126119T>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042856.2, RCV000336828.1,