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rs121909186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(ACG;ACG) 0 common in clinvar
Make rs121909186(-;-)
Make rs121909186(-;A)
Make rs121909186(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position19117013
GeneTWIST1
is asnp
is mentioned by
dbSNPrs121909186
ebirs121909186
HLIrs121909186
Exacrs121909186
Varsomers121909186
Maprs121909186
PheGenIrs121909186
hapmaprs121909186
1000 genomesrs121909186
hgdprs121909186
ensemblrs121909186
gopubmedrs121909186
geneviewrs121909186
scholarrs121909186
googlers121909186
pharmgkbrs121909186
gwascentralrs121909186
openSNPrs121909186
23andMers121909186
23andMe allrs121909186
SNP Nexus

SNPshotrs121909186
SNPdbers121909186
MSV3drs121909186
GWAS Ctlgrs121909186
Max Magnitude0
ClinVar
Risk rs121909186(A;A)
Alt rs121909186(A;A)
Reference rs121909186(ACG;ACG)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156637dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008437.2,