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rs137854218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG) 0 common in clinvar
Make rs137854218(-;-)
Make rs137854218(-;CGGCTCCGCCACATCAAG)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2088293
GenePKD1, TSC2
is asnp
is mentioned by
dbSNPrs137854218
dbSNP (old)rs137854218
ClinGenrs137854218
ebirs137854218
HLIrs137854218
Exacrs137854218
Gnomadrs137854218
Varsomers137854218
Maprs137854218
PheGenIrs137854218
Biobankrs137854218
1000 genomesrs137854218
hgdprs137854218
ensemblrs137854218
gopubmedrs137854218
geneviewrs137854218
scholarrs137854218
googlers137854218
pharmgkbrs137854218
gwascentralrs137854218
openSNPrs137854218
23andMers137854218
23andMe allrs137854218
SNP Nexus

SNPshotrs137854218
SNPdbers137854218
MSV3drs137854218
GWAS Ctlgrs137854218
Merged fromRs137854225
Max Magnitude0
ClinVar
Risk rs137854218(-;-) rs137854218(CATCAAGCGGCTCCGCCA;CATCAAGCGGCTCCGCCA)
Alt rs137854218(-;-) rs137854218(CATCAAGCGGCTCCGCCA;CATCAAGCGGCTCCGCCA)
Reference Rs137854218(CGGCTCCGCCACATCAAG;CGGCTCCGCCACATCAAG)
Significance Pathogenic
Disease Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided Hereditary cancer-predisposing syndrome
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000016.9:g.2138305_2138322del18
CLNSRC OMIM Allelic Variant Tuberous sclerosis database (TSC2)
CLNACC RCV000013211.25, RCV000043162.3, RCV000055053.1, RCV000483802.1, RCV000491359.1,