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rs118203438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.3 Tuberous Sclerosis Complex
(G;G) 0 common in clinvar
(G;T) 6.3 Tuberous Sclerosis Complex


Make rs118203438(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132921362
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203438
dbSNP (classic)rs118203438
ClinGenrs118203438
ebirs118203438
HLIrs118203438
Exacrs118203438
Gnomadrs118203438
Varsomers118203438
LitVarrs118203438
Maprs118203438
PheGenIrs118203438
Biobankrs118203438
1000 genomesrs118203438
hgdprs118203438
ensemblrs118203438
geneviewrs118203438
scholarrs118203438
googlers118203438
pharmgkbrs118203438
gwascentralrs118203438
openSNPrs118203438
23andMers118203438
SNPshotrs118203438
SNPdbers118203438
MSV3drs118203438
GWAS Ctlgrs118203438
Max Magnitude6.3
ClinVar
Risk rs118203438(A;A) rs118203438(T;T)
Alt rs118203438(A;A) rs118203438(T;T)
Reference Rs118203438(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome not provided
Reversed 1
HGVS NC_000009.11:g.135796749C>A; NC_000009.11:g.135796749C>T
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000055031.1, RCV000042346.2, RCV000189839.1,