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rs45517229

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs45517229(A;C)
Make rs45517229(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2074198
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517229
ebirs45517229
HLIrs45517229
Exacrs45517229
Varsomers45517229
Maprs45517229
PheGenIrs45517229
hapmaprs45517229
1000 genomesrs45517229
hgdprs45517229
ensemblrs45517229
gopubmedrs45517229
geneviewrs45517229
scholarrs45517229
googlers45517229
pharmgkbrs45517229
gwascentralrs45517229
openSNPrs45517229
23andMers45517229
23andMe allrs45517229
SNP Nexus

SNPshotrs45517229
SNPdbers45517229
MSV3drs45517229
GWAS Ctlgrs45517229
Max Magnitude0
ClinVar
Risk rs45517229(C;C)
Alt rs45517229(C;C)
Reference rs45517229(A;A)
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.2124199A>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042463.2, RCV000201046.1,