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rs121909190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909190(A;A)
Make rs121909190(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116766
GeneTWIST1
is asnp
is mentioned by
dbSNPrs121909190
dbSNP (classic)rs121909190
ClinGenrs121909190
ebirs121909190
HLIrs121909190
Exacrs121909190
Gnomadrs121909190
Varsomers121909190
LitVarrs121909190
Maprs121909190
PheGenIrs121909190
Biobankrs121909190
1000 genomesrs121909190
hgdprs121909190
ensemblrs121909190
geneviewrs121909190
scholarrs121909190
googlers121909190
pharmgkbrs121909190
gwascentralrs121909190
openSNPrs121909190
23andMers121909190
SNPshotrs121909190
SNPdbers121909190
MSV3drs121909190
GWAS Ctlgrs121909190
Max Magnitude0
OMIM601622
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909190(A;A)
Alt rs121909190(A;A)
Reference Rs121909190(G;G)
Significance Pathogenic
Disease Craniosynostosis 1
Variation info
Gene TWIST1
CLNDBN Craniosynostosis 1
Reversed 1
HGVS NC_000007.13:g.19156389C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008449.4,