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rs45472701

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45472701(C;T)
Make rs45472701(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2088236
GenePKD1, TSC2
is asnp
is mentioned by
dbSNPrs45472701
ebirs45472701
HLIrs45472701
Exacrs45472701
Varsomers45472701
Maprs45472701
PheGenIrs45472701
hapmaprs45472701
1000 genomesrs45472701
hgdprs45472701
ensemblrs45472701
gopubmedrs45472701
geneviewrs45472701
scholarrs45472701
googlers45472701
pharmgkbrs45472701
gwascentralrs45472701
openSNPrs45472701
23andMers45472701
23andMe allrs45472701
SNP Nexus

SNPshotrs45472701
SNPdbers45472701
MSV3drs45472701
GWAS Ctlgrs45472701
Max Magnitude0
ClinVar
Risk rs45472701(T;T)
Alt rs45472701(T;T)
Reference rs45472701(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 2
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2138237C>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043217.2, RCV000201008.1,