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rs104894230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894230(C;C)
Make rs104894230(C;G)
ReferenceGRCh37 37.1/132
Chromosome11
Position534288
GeneHRAS
is asnp
is mentioned by
dbSNPrs104894230
ebirs104894230
HLIrs104894230
Exacrs104894230
Varsomers104894230
Maprs104894230
PheGenIrs104894230
hapmaprs104894230
1000 genomesrs104894230
hgdprs104894230
ensemblrs104894230
gopubmedrs104894230
geneviewrs104894230
scholarrs104894230
googlers104894230
pharmgkbrs104894230
gwascentralrs104894230
openSNPrs104894230
23andMers104894230
23andMe allrs104894230
SNP Nexus

SNPshotrs104894230
SNPdbers104894230
MSV3drs104894230
GWAS Ctlgrs104894230
Max Magnitude0
OMIM190020
Desc
Variant0004
Relatedalso
OMIM190020
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894230(A,C,T;A,C,T)
Alt rs104894230(A,C,T;A,C,T)
Reference rs104894230(G;G)
Significance Pathogenic
Disease Malignant tumor of urinary bladder Costello syndrome Myopathy Epidermal nevus not provided Rasopathy Costello syndrome Nevus sebaceous
Variation info
Gene HRAS
CLNDBN Malignant tumor of urinary bladder Costello syndrome Myopathy, congenital, with excess of muscle spindles Epidermal nevus not provided Rasopathy Costello syndrome, severe Nevus sebaceous
Reversed 1
HGVS NC_000011.9:g.534288C>A; NC_000011.9:g.534288C>G; NC_000011.9:g.534288C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013431.5, RCV000013432.26, RCV000013433.25, RCV000032850.5, RCV000157912.1, RCV000013437.24, RCV000157911.1, RCV000207503.1, RCV000013446.24, RCV000029210.6, RCV000038460.2, RCV000149830.3, RCV000212496.1,