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rs13337626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs13337626(C;C)
Make rs13337626(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position2075833
GeneTSC2
is asnp
is mentioned by
dbSNPrs13337626
ebirs13337626
HLIrs13337626
Exacrs13337626
Varsomers13337626
Maprs13337626
PheGenIrs13337626
hapmaprs13337626
1000 genomesrs13337626
hgdprs13337626
ensemblrs13337626
gopubmedrs13337626
geneviewrs13337626
scholarrs13337626
googlers13337626
pharmgkbrs13337626
gwascentralrs13337626
openSNPrs13337626
23andMers13337626
23andMe allrs13337626
SNP Nexus

SNPshotrs13337626
SNPdbers13337626
MSV3drs13337626
GWAS Ctlgrs13337626
GMAF0.06198
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 21751195OA-icon.png] Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: a case-only study
OMIM191100
Desc
Variant
Relatedalso


ClinVar
Risk rs13337626(C;C)
Alt rs13337626(C;C)
Reference rs13337626(T;T)
Significance Other
Disease Tuberous sclerosis syndrome Lymphangiomyomatosis not specified Hereditary cancer-predisposing syndrome
Variation info
Gene TSC2
CLNDBN Tuberous sclerosis syndrome Lymphangiomyomatosis not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000016.9:g.2125834T>C
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042833.2, RCV000055364.1, RCV000118702.4, RCV000163258.1,



[PMID 21373201OA-icon.png] Genetic variability of the mTOR pathway and prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).


[PMID 88248] Nerve terminal proteins of the rabbit visual relay nuclei identified by axonal transport and two-dimensional gel electrophoresis.


[PMID 10533067] Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.


[PMID 15595939] Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.


[PMID 16114042] Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.


[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.