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rs104894058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894058(G;T)
Make rs104894058(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position19116781
GeneTWIST1
is asnp
is mentioned by
dbSNPrs104894058
ebirs104894058
HLIrs104894058
Exacrs104894058
Varsomers104894058
Maprs104894058
PheGenIrs104894058
hapmaprs104894058
1000 genomesrs104894058
hgdprs104894058
ensemblrs104894058
gopubmedrs104894058
geneviewrs104894058
scholarrs104894058
googlers104894058
pharmgkbrs104894058
gwascentralrs104894058
openSNPrs104894058
23andMers104894058
23andMe allrs104894058
SNP Nexus

SNPshotrs104894058
SNPdbers104894058
MSV3drs104894058
GWAS Ctlgrs104894058
Max Magnitude0
OMIM601622
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894058(C,T;C,T)
Alt rs104894058(C,T;C,T)
Reference rs104894058(G;G)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene TWIST1
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000007.13:g.19156404C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008444.2,