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rs104894065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894065(C;T)
Make rs104894065(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position19117111
GeneTWIST1
is asnp
is mentioned by
dbSNPrs104894065
ebirs104894065
HLIrs104894065
Exacrs104894065
Varsomers104894065
Maprs104894065
PheGenIrs104894065
hapmaprs104894065
1000 genomesrs104894065
hgdprs104894065
ensemblrs104894065
gopubmedrs104894065
geneviewrs104894065
scholarrs104894065
googlers104894065
pharmgkbrs104894065
gwascentralrs104894065
openSNPrs104894065
23andMers104894065
23andMe allrs104894065
SNP Nexus

SNPshotrs104894065
SNPdbers104894065
MSV3drs104894065
GWAS Ctlgrs104894065
Max Magnitude0
OMIM601622
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894065(T;T)
Alt rs104894065(T;T)
Reference rs104894065(C;C)
Significance Pathogenic
Disease Robinow Sorauf syndrome
Variation info
Gene TWIST1
CLNDBN Robinow Sorauf syndrome
Reversed 1
HGVS NC_000007.13:g.19156734G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008448.3,