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rs104894228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894228(G;T)
Make rs104894228(T;T)
ReferenceGRCh37 37.1/132
Chromosome11
Position534286
GeneHRAS
is asnp
is mentioned by
dbSNPrs104894228
ebirs104894228
HLIrs104894228
Exacrs104894228
Varsomers104894228
Maprs104894228
PheGenIrs104894228
hapmaprs104894228
1000 genomesrs104894228
hgdprs104894228
ensemblrs104894228
gopubmedrs104894228
geneviewrs104894228
scholarrs104894228
googlers104894228
pharmgkbrs104894228
gwascentralrs104894228
openSNPrs104894228
23andMers104894228
23andMe allrs104894228
SNP Nexus

SNPshotrs104894228
SNPdbers104894228
MSV3drs104894228
GWAS Ctlgrs104894228
Max Magnitude0
OMIM190020
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894228(A,C,T;A,C,T)
Alt rs104894228(A,C,T;A,C,T)
Reference rs104894228(G;G)
Significance Pathogenic
Disease Costello syndrome Rasopathy not provided Nevus sebaceous Epidermal nevus syndrome Epidermal nevus NEVUS SPILUS SPITZ NEVUS
Variation info
Gene HRAS
CLNDBN Costello syndrome Rasopathy not provided Nevus sebaceous Epidermal nevus syndrome Epidermal nevus NEVUS SPILUS, SOMATIC SPITZ NEVUS, SOMATIC
Reversed 1
HGVS NC_000011.9:g.534286C>A; NC_000011.9:g.534286C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013440.27, RCV000149831.2, RCV000207504.1, RCV000029212.6, RCV000029213.6, RCV000032852.6, RCV000173005.2, RCV000173006.2,