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rs121909189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909189(C;C)
Make rs121909189(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116930
GeneTWIST1
is asnp
is mentioned by
dbSNPrs121909189
ebirs121909189
HLIrs121909189
Exacrs121909189
Varsomers121909189
Maprs121909189
PheGenIrs121909189
hapmaprs121909189
1000 genomesrs121909189
hgdprs121909189
ensemblrs121909189
gopubmedrs121909189
geneviewrs121909189
scholarrs121909189
googlers121909189
pharmgkbrs121909189
gwascentralrs121909189
openSNPrs121909189
23andMers121909189
23andMe allrs121909189
SNP Nexus

SNPshotrs121909189
SNPdbers121909189
MSV3drs121909189
GWAS Ctlgrs121909189
Max Magnitude0
OMIM601622
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909189(C;C)
Alt rs121909189(C;C)
Reference rs121909189(T;T)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156553A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008442.2,