Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894059(A;G)
Make rs104894059(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116856
GeneTWIST1
is asnp
is mentioned by
dbSNPrs104894059
ebirs104894059
HLIrs104894059
Exacrs104894059
Varsomers104894059
Maprs104894059
PheGenIrs104894059
hapmaprs104894059
1000 genomesrs104894059
hgdprs104894059
ensemblrs104894059
gopubmedrs104894059
geneviewrs104894059
scholarrs104894059
googlers104894059
pharmgkbrs104894059
gwascentralrs104894059
openSNPrs104894059
23andMers104894059
23andMe allrs104894059
SNP Nexus

SNPshotrs104894059
SNPdbers104894059
MSV3drs104894059
GWAS Ctlgrs104894059
Max Magnitude0
OMIM601622
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894059(G;G)
Alt rs104894059(G;G)
Reference rs104894059(A;A)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156479T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008446.2,