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rs104894055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894055(C;T)
Make rs104894055(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position19117240
GeneTWIST1
is asnp
is mentioned by
dbSNPrs104894055
ebirs104894055
HLIrs104894055
Exacrs104894055
Varsomers104894055
Maprs104894055
PheGenIrs104894055
hapmaprs104894055
1000 genomesrs104894055
hgdprs104894055
ensemblrs104894055
gopubmedrs104894055
geneviewrs104894055
scholarrs104894055
googlers104894055
pharmgkbrs104894055
gwascentralrs104894055
openSNPrs104894055
23andMers104894055
23andMe allrs104894055
SNP Nexus

SNPshotrs104894055
SNPdbers104894055
MSV3drs104894055
GWAS Ctlgrs104894055
Max Magnitude0
OMIM601622
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894055(T;T)
Alt rs104894055(T;T)
Reference rs104894055(C;C)
Significance Pathogenic
Disease Saethre-Chotzen syndrome with eyelid anomalies
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome with eyelid anomalies
Reversed 1
HGVS NC_000007.13:g.19156863G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008447.2,