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rs121909191

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909191(C;T)
Make rs121909191(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116759
GeneTWIST1
is asnp
is mentioned by
dbSNPrs121909191
ebirs121909191
HLIrs121909191
Exacrs121909191
Varsomers121909191
Maprs121909191
PheGenIrs121909191
hapmaprs121909191
1000 genomesrs121909191
hgdprs121909191
ensemblrs121909191
gopubmedrs121909191
geneviewrs121909191
scholarrs121909191
googlers121909191
pharmgkbrs121909191
gwascentralrs121909191
openSNPrs121909191
23andMers121909191
23andMe allrs121909191
SNP Nexus

SNPshotrs121909191
SNPdbers121909191
MSV3drs121909191
GWAS Ctlgrs121909191
Max Magnitude0
OMIM601622
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121909191(T;T)
Alt rs121909191(T;T)
Reference rs121909191(C;C)
Significance Pathogenic
Disease Craniosynostosis 1
Variation info
Gene TWIST1
CLNDBN Craniosynostosis 1
Reversed 1
HGVS NC_000007.13:g.19156382G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008450.3,