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rs118203403

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203403(A;A)
Make rs118203403(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132921910
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203403
dbSNP (old)rs118203403
ClinGenrs118203403
ebirs118203403
HLIrs118203403
Exacrs118203403
Gnomadrs118203403
Varsomers118203403
Maprs118203403
PheGenIrs118203403
Biobankrs118203403
1000 genomesrs118203403
hgdprs118203403
ensemblrs118203403
gopubmedrs118203403
geneviewrs118203403
scholarrs118203403
googlers118203403
pharmgkbrs118203403
gwascentralrs118203403
openSNPrs118203403
23andMers118203403
23andMe allrs118203403
SNPshotrs118203403
SNPdbers118203403
MSV3drs118203403
GWAS Ctlgrs118203403
Max Magnitude0
ClinVar
Risk rs118203403(A;A) rs118203403(C;C) rs118203403(G;G)
Alt rs118203403(A;A) rs118203403(C;C) rs118203403(G;G)
Reference Rs118203403(T;T)
Significance Probable-Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135797297A>C; NC_000009.11:g.135797297A>G; NC_000009.11:g.135797297A>T
CLNSRC Tuberous sclerosis database (TSC1) UniProtKB (protein)
CLNACC RCV000042314.2, RCV000482696.1, RCV000042313.2,