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rs45517252

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45517252(C;C)
Make rs45517252(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2075893
GeneTSC2
is asnp
is mentioned by
dbSNPrs45517252
ebirs45517252
HLIrs45517252
Exacrs45517252
Varsomers45517252
Maprs45517252
PheGenIrs45517252
hapmaprs45517252
1000 genomesrs45517252
hgdprs45517252
ensemblrs45517252
gopubmedrs45517252
geneviewrs45517252
scholarrs45517252
googlers45517252
pharmgkbrs45517252
gwascentralrs45517252
openSNPrs45517252
23andMers45517252
23andMe allrs45517252
SNP Nexus

SNPshotrs45517252
SNPdbers45517252
MSV3drs45517252
GWAS Ctlgrs45517252
Max Magnitude0
ClinVar
Risk rs45517252(C;C)
Alt rs45517252(C;C)
Reference rs45517252(G;G)
Significance Pathogenic
Disease not provided Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2
CLNDBN not provided Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2125894G>A; NC_000016.9:g.2125894G>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000190003.1, RCV000043111.2, RCV000201066.1,