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rs137854225

From SNPedia

Merged intors137854218
Orientationplus
Stabilizedplus
Geno Mag Summary
(CATCAAGCGGCTCCGCCA;CATCAAGCGGCTCCGCCA) 0 common in clinvar
(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG) 0 common in clinvar
Make rs137854225(-;-)
Make rs137854225(-;CATCAAGCGGCTCCGCCA)
ReferenceGRCh38 38.1/141
Chromosome16
Position2088304
GenePKD1, TSC2
is asnp
is mentioned by
dbSNPrs137854225
dbSNP (old)rs137854225
ClinGenrs137854225
ebirs137854225
HLIrs137854225
Exacrs137854225
Varsomers137854225
Maprs137854225
PheGenIrs137854225
Biobankrs137854225
1000 genomesrs137854225
hgdprs137854225
ensemblrs137854225
gopubmedrs137854225
geneviewrs137854225
scholarrs137854225
googlers137854225
pharmgkbrs137854225
gwascentralrs137854225
openSNPrs137854225
23andMers137854225
23andMe allrs137854225
SNP Nexus

SNPshotrs137854225
SNPdbers137854225
MSV3drs137854225
GWAS Ctlgrs137854225
StatusMerged into rs137854218
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs137854225(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis
Reversed 0
HGVS NC_000016.9:g.2138305_2138322del18
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013211.25, RCV000043162.3, RCV000055053.1,


[PMID 11112] Acid mucopolysaccharides in fibroblast cultures. 2. 35S-sulfate incorporation kinetics in dependence on pH-value and cell density.


[PMID 11112665OA-icon.png] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.


[PMID 12136241] SNP identification, haplotype analysis, and parental origin of mutations in TSC2.