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rs45479192

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45479192(C;T)
Make rs45479192(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2086292
GeneTSC2
is asnp
is mentioned by
dbSNPrs45479192
ebirs45479192
HLIrs45479192
Exacrs45479192
Varsomers45479192
Maprs45479192
PheGenIrs45479192
hapmaprs45479192
1000 genomesrs45479192
hgdprs45479192
ensemblrs45479192
gopubmedrs45479192
geneviewrs45479192
scholarrs45479192
googlers45479192
pharmgkbrs45479192
gwascentralrs45479192
openSNPrs45479192
23andMers45479192
23andMe allrs45479192
SNP Nexus

SNPshotrs45479192
SNPdbers45479192
MSV3drs45479192
GWAS Ctlgrs45479192
Max Magnitude0
ClinVar
Risk rs45479192(T;T)
Alt rs45479192(T;T)
Reference rs45479192(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2136293C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043363.2, RCV000201115.1,