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rs121909188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909188(G;T)
Make rs121909188(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116946
GeneTWIST1
is asnp
is mentioned by
dbSNPrs121909188
ebirs121909188
HLIrs121909188
Exacrs121909188
Varsomers121909188
Maprs121909188
PheGenIrs121909188
hapmaprs121909188
1000 genomesrs121909188
hgdprs121909188
ensemblrs121909188
gopubmedrs121909188
geneviewrs121909188
scholarrs121909188
googlers121909188
pharmgkbrs121909188
gwascentralrs121909188
openSNPrs121909188
23andMers121909188
23andMe allrs121909188
SNP Nexus

SNPshotrs121909188
SNPdbers121909188
MSV3drs121909188
GWAS Ctlgrs121909188
Max Magnitude0
OMIM601622
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909188(T;T)
Alt rs121909188(T;T)
Reference rs121909188(G;G)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156569C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008441.2,