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rs121917757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917757(A;A)
Make rs121917757(A;C)
ReferenceGRCh37.p5 37.3/135
Chromosome11
Position534259
GeneHRAS, LRRC56
is asnp
is mentioned by
dbSNPrs121917757
dbSNP (old)rs121917757
ClinGenrs121917757
ebirs121917757
HLIrs121917757
Exacrs121917757
Gnomadrs121917757
Varsomers121917757
Maprs121917757
PheGenIrs121917757
Biobankrs121917757
1000 genomesrs121917757
hgdprs121917757
ensemblrs121917757
gopubmedrs121917757
geneviewrs121917757
scholarrs121917757
googlers121917757
pharmgkbrs121917757
gwascentralrs121917757
openSNPrs121917757
23andMers121917757
23andMe allrs121917757
SNP Nexus

SNPshotrs121917757
SNPdbers121917757
MSV3drs121917757
GWAS Ctlgrs121917757
Max Magnitude0
OMIM190020
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121917757(A;A) rs121917757(T;T)
Alt rs121917757(A;A) rs121917757(T;T)
Reference Rs121917757(C;C)
Significance Pathogenic
Disease not specified Myopathy Costello syndrome not provided
Variation info
Gene HRAS
CLNDBN not specified Myopathy, congenital, with excess of muscle spindles Costello syndrome not provided
Reversed 1
HGVS NC_000011.9:g.534259G>A; NC_000011.9:g.534259G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000269895.1, RCV000013443.17, RCV000143898.1, RCV000157915.1,