rs121917758

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7	Costello syndrome

Make rs121917758(T;T)

Reference

GRCh37.p5 37.3/135

Chromosome

11

Position

533883

Gene	HRAS, LRRC56

is a	snp
is	mentioned by
dbSNP	rs121917758
dbSNP (classic)	rs121917758
ClinGen	rs121917758
ebi	rs121917758
HLI	rs121917758
Exac	rs121917758
Gnomad	rs121917758
Varsome	rs121917758
LitVar	rs121917758
Map	rs121917758
PheGenI	rs121917758
Biobank	rs121917758
1000 genomes	rs121917758
hgdp	rs121917758
ensembl	rs121917758
geneview	rs121917758
scholar	rs121917758
google	rs121917758
pharmgkb	rs121917758
gwascentral	rs121917758
openSNP	rs121917758
23andMe	rs121917758
SNPshot	rs121917758
SNPdbe	rs121917758
MSV3d	rs121917758
GWAS Ctlg	rs121917758

Max Magnitude

7

aka c.173C>T (p.Thr58Ile)

23andMe name: i5005668

OMIM	190020
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121917758(T;T)
Alt	rs121917758(T;T)
Reference	Rs121917758(C;C)
Significance	Pathogenic
Disease	Costello syndrome
Variation	info
Gene	HRAS
CLNDBN	Costello syndrome
Reversed	1
HGVS	NC_000011.9:g.533883G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013444.19,