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rs104894054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894054(C;G)
Make rs104894054(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position19117013
GeneTWIST1
is asnp
is mentioned by
dbSNPrs104894054
ebirs104894054
HLIrs104894054
Exacrs104894054
Varsomers104894054
Maprs104894054
PheGenIrs104894054
hapmaprs104894054
1000 genomesrs104894054
hgdprs104894054
ensemblrs104894054
gopubmedrs104894054
geneviewrs104894054
scholarrs104894054
googlers104894054
pharmgkbrs104894054
gwascentralrs104894054
openSNPrs104894054
23andMers104894054
23andMe allrs104894054
SNP Nexus

SNPshotrs104894054
SNPdbers104894054
MSV3drs104894054
GWAS Ctlgrs104894054
Max Magnitude0
OMIM601622
Desc
Variant0003
Relatedalso
OMIM601622
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894054(A,G;A,G)
Alt rs104894054(A,G;A,G)
Reference rs104894054(C;C)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156636G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008439.2,