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rs118203423

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203423(A;A)
Make rs118203423(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132921437
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203423
ebirs118203423
HLIrs118203423
Exacrs118203423
Varsomers118203423
Maprs118203423
PheGenIrs118203423
hapmaprs118203423
1000 genomesrs118203423
hgdprs118203423
ensemblrs118203423
gopubmedrs118203423
geneviewrs118203423
scholarrs118203423
googlers118203423
pharmgkbrs118203423
gwascentralrs118203423
openSNPrs118203423
23andMers118203423
23andMe allrs118203423
SNP Nexus

SNPshotrs118203423
SNPdbers118203423
MSV3drs118203423
GWAS Ctlgrs118203423
Max Magnitude0
ClinVar
Risk rs118203423(A,C;A,C)
Alt rs118203423(A,C;A,C)
Reference rs118203423(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Tuberous sclerosis 1 Malignant tumor of urinary bladder
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Tuberous sclerosis 1 Malignant tumor of urinary bladder
Reversed 1
HGVS NC_000009.11:g.135796824C>G; NC_000009.11:g.135796824C>T
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042334.2, RCV000201068.1, RCV000042333.2,