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rs118203614

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203614(A;A)
Make rs118203614(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position132904455
GeneTSC1
is asnp
is mentioned by
dbSNPrs118203614
ebirs118203614
HLIrs118203614
Exacrs118203614
Varsomers118203614
Maprs118203614
PheGenIrs118203614
hapmaprs118203614
1000 genomesrs118203614
hgdprs118203614
ensemblrs118203614
gopubmedrs118203614
geneviewrs118203614
scholarrs118203614
googlers118203614
pharmgkbrs118203614
gwascentralrs118203614
openSNPrs118203614
23andMers118203614
23andMe allrs118203614
SNP Nexus

SNPshotrs118203614
SNPdbers118203614
MSV3drs118203614
GWAS Ctlgrs118203614
Max Magnitude0
ClinVar
Risk rs118203614(A,C,T;A,C,T)
Alt rs118203614(A,C,T;A,C,T)
Reference rs118203614(G;G)
Significance Probable-Pathogenic
Disease Tuberous sclerosis 1 Tuberous sclerosis syndrome
Variation info
Gene TSC1
CLNDBN Tuberous sclerosis 1 Tuberous sclerosis syndrome
Reversed 1
HGVS NC_000009.11:g.135779842C>A; NC_000009.11:g.135779842C>G; NC_000009.11:g.135779842C>T
CLNSRC Tuberous sclerosis database (TSC1)
CLNACC RCV000228255.1, RCV000042118.2, RCV000042117.2,