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rs104894229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894229(A;A)
Make rs104894229(A;G)
ReferenceGRCh37 37.1/132
Chromosome11
Position534289
GeneHRAS
is asnp
is mentioned by
dbSNPrs104894229
ebirs104894229
HLIrs104894229
Exacrs104894229
Varsomers104894229
Maprs104894229
PheGenIrs104894229
hapmaprs104894229
1000 genomesrs104894229
hgdprs104894229
ensemblrs104894229
gopubmedrs104894229
geneviewrs104894229
scholarrs104894229
googlers104894229
pharmgkbrs104894229
gwascentralrs104894229
openSNPrs104894229
23andMers104894229
23andMe allrs104894229
SNP Nexus

SNPshotrs104894229
SNPdbers104894229
MSV3drs104894229
GWAS Ctlgrs104894229
Max Magnitude0
OMIM190020
Desc
Variant0003
Relatedalso
OMIM190020
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894229(A,C,T;A,C,T)
Alt rs104894229(A,C,T;A,C,T)
Reference rs104894229(G;G)
Significance Pathogenic
Disease Costello syndrome Nevus sebaceous Epidermal nevus Rasopathy not provided Myopathy Epidermal nevus with urothelial cancer Nevus
Variation info
Gene HRAS
CLNDBN Costello syndrome Nevus sebaceous Epidermal nevus Rasopathy not provided Myopathy, congenital, with excess of muscle spindles Epidermal nevus with urothelial cancer, somatic Nevus, woolly hair
Reversed 1
HGVS NC_000011.9:g.534289C>A; NC_000011.9:g.534289C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000013447.26, RCV000029211.6, RCV000032851.6, RCV000149829.3, RCV000212495.1, RCV000013435.29, RCV000013436.23, RCV000022796.5, RCV000029209.5, RCV000081295.3, RCV000149828.2, RCV000173004.2,