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rs45517412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45517412(C;G)
Make rs45517412(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2088293
GenePKD1, TSC2
is asnp
is mentioned by
dbSNPrs45517412
dbSNP (old)rs45517412
ClinGenrs45517412
ebirs45517412
HLIrs45517412
Exacrs45517412
Gnomadrs45517412
Varsomers45517412
Maprs45517412
PheGenIrs45517412
Biobankrs45517412
1000 genomesrs45517412
hgdprs45517412
ensemblrs45517412
gopubmedrs45517412
geneviewrs45517412
scholarrs45517412
googlers45517412
pharmgkbrs45517412
gwascentralrs45517412
openSNPrs45517412
23andMers45517412
23andMe allrs45517412
SNP Nexus

SNPshotrs45517412
SNPdbers45517412
MSV3drs45517412
GWAS Ctlgrs45517412
Max Magnitude0
ClinVar
Risk rs45517412(G;G) rs45517412(T;T)
Alt rs45517412(G;G) rs45517412(T;T)
Reference Rs45517412(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000016.9:g.2138294C>G; NC_000016.9:g.2138294C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043100.2, RCV000042731.2, RCV000190076.1, RCV000201065.1, RCV000491169.1,