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rs121909187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909187(A;A)
Make rs121909187(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116954
GeneTWIST1
is asnp
is mentioned by
dbSNPrs121909187
ebirs121909187
HLIrs121909187
Exacrs121909187
Varsomers121909187
Maprs121909187
PheGenIrs121909187
hapmaprs121909187
1000 genomesrs121909187
hgdprs121909187
ensemblrs121909187
gopubmedrs121909187
geneviewrs121909187
scholarrs121909187
googlers121909187
pharmgkbrs121909187
gwascentralrs121909187
openSNPrs121909187
23andMers121909187
23andMe allrs121909187
SNP Nexus

SNPshotrs121909187
SNPdbers121909187
MSV3drs121909187
GWAS Ctlgrs121909187
Max Magnitude0
OMIM601622
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909187(A;A)
Alt rs121909187(A;A)
Reference rs121909187(C;C)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156577G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008440.2,