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rs45517246

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs45517246(A;G)
Make rs45517246(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2075797
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517246
ebirs45517246
HLIrs45517246
Exacrs45517246
Varsomers45517246
Maprs45517246
PheGenIrs45517246
hapmaprs45517246
1000 genomesrs45517246
hgdprs45517246
ensemblrs45517246
gopubmedrs45517246
geneviewrs45517246
scholarrs45517246
googlers45517246
pharmgkbrs45517246
gwascentralrs45517246
openSNPrs45517246
23andMers45517246
23andMe allrs45517246
SNP Nexus

SNPshotrs45517246
SNPdbers45517246
MSV3drs45517246
GWAS Ctlgrs45517246
Max Magnitude0
ClinVar
Risk rs45517246(G,T;G,T)
Alt rs45517246(G,T;G,T)
Reference rs45517246(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.2125798A>G; NC_000016.9:g.2125798A>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043045.2, RCV000176373.1, RCV000042473.2,