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rs118203728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203728(C;T)
Make rs118203728(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position132897544
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203728
dbSNP (old)rs118203728
ClinGenrs118203728
ebirs118203728
HLIrs118203728
Exacrs118203728
Gnomadrs118203728
Varsomers118203728
LitVarrs118203728
Maprs118203728
PheGenIrs118203728
Biobankrs118203728
1000 genomesrs118203728
hgdprs118203728
ensemblrs118203728
gopubmedrs118203728
geneviewrs118203728
scholarrs118203728
googlers118203728
pharmgkbrs118203728
gwascentralrs118203728
openSNPrs118203728
23andMers118203728
23andMe allrs118203728
SNPshotrs118203728
SNPdbers118203728
MSV3drs118203728
GWAS Ctlgrs118203728
Max Magnitude0
ClinVar
Risk rs118203728(T;T)
Alt rs118203728(T;T)
Reference Rs118203728(C;C)
Significance Pathogenic
Disease Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.135772931G>A
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000042243.2, RCV000491065.1,