rs121917757

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121917757(A;A)

Make rs121917757(A;C)

Reference

GRCh37.p5 37.3/135

Chromosome

11

Position

534259

Gene	HRAS, LRRC56

is a	snp
is	mentioned by
dbSNP	rs121917757
dbSNP (classic)	rs121917757
ClinGen	rs121917757
ebi	rs121917757
HLI	rs121917757
Exac	rs121917757
Gnomad	rs121917757
Varsome	rs121917757
LitVar	rs121917757
Map	rs121917757
PheGenI	rs121917757
Biobank	rs121917757
1000 genomes	rs121917757
hgdp	rs121917757
ensembl	rs121917757
geneview	rs121917757
scholar	rs121917757
google	rs121917757
pharmgkb	rs121917757
gwascentral	rs121917757
openSNP	rs121917757
23andMe	rs121917757
SNPshot	rs121917757
SNPdbe	rs121917757
MSV3d	rs121917757
GWAS Ctlg	rs121917757

Max Magnitude

0

OMIM	190020
Desc
Variant	0010
Related	also

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,