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rs45517281

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs45517281(C;C)
Make rs45517281(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2079171
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517281
ebirs45517281
HLIrs45517281
Exacrs45517281
Varsomers45517281
Maprs45517281
PheGenIrs45517281
hapmaprs45517281
1000 genomesrs45517281
hgdprs45517281
ensemblrs45517281
gopubmedrs45517281
geneviewrs45517281
scholarrs45517281
googlers45517281
pharmgkbrs45517281
gwascentralrs45517281
openSNPrs45517281
23andMers45517281
23andMe allrs45517281
SNP Nexus

SNPshotrs45517281
SNPdbers45517281
MSV3drs45517281
GWAS Ctlgrs45517281
Max Magnitude0
ClinVar
Risk rs45517281(C;C)
Alt rs45517281(C;C)
Reference rs45517281(T;T)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2 not specified
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2 not specified
Reversed 0
HGVS NC_000016.9:g.2129172T>C; NC_000016.9:g.2129172T>G
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043309.2, RCV000190879.1, RCV000190012.1,