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rs104894057

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894057(A;C)
Make rs104894057(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116966
GeneTWIST1
is asnp
is mentioned by
dbSNPrs104894057
ebirs104894057
HLIrs104894057
Exacrs104894057
Varsomers104894057
Maprs104894057
PheGenIrs104894057
hapmaprs104894057
1000 genomesrs104894057
hgdprs104894057
ensemblrs104894057
gopubmedrs104894057
geneviewrs104894057
scholarrs104894057
googlers104894057
pharmgkbrs104894057
gwascentralrs104894057
openSNPrs104894057
23andMers104894057
23andMe allrs104894057
SNP Nexus

SNPshotrs104894057
SNPdbers104894057
MSV3drs104894057
GWAS Ctlgrs104894057
Max Magnitude0
OMIM601622
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894057(C;C)
Alt rs104894057(C;C)
Reference rs104894057(A;A)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156589T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008438.2,