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rs137854219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854219(A;A)
Make rs137854219(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position2088285
GenePKD1, TSC2
is asnp
is mentioned by
dbSNPrs137854219
dbSNP (classic)rs137854219
ClinGenrs137854219
ebirs137854219
HLIrs137854219
Exacrs137854219
Gnomadrs137854219
Varsomers137854219
LitVarrs137854219
Maprs137854219
PheGenIrs137854219
Biobankrs137854219
1000 genomesrs137854219
hgdprs137854219
ensemblrs137854219
geneviewrs137854219
scholarrs137854219
googlers137854219
pharmgkbrs137854219
gwascentralrs137854219
openSNPrs137854219
23andMers137854219
23andMe allrs137854219
SNPshotrs137854219
SNPdbers137854219
MSV3drs137854219
GWAS Ctlgrs137854219
Max Magnitude0
ClinVar
Risk rs137854219(A;A)
Alt rs137854219(A;A)
Reference Rs137854219(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 0
HGVS NC_000016.9:g.2138286G>A
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000042622.2, RCV000388680.1,