rs104894227

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	7	Costello syndrome

Make rs104894227(G;G)

Reference

GRCh37 37.1/132

Chromosome

11

Position

533553

Gene	HRAS, LRRC56

is a	snp
is	mentioned by
dbSNP	rs104894227
dbSNP (classic)	rs104894227
ClinGen	rs104894227
ebi	rs104894227
HLI	rs104894227
Exac	rs104894227
Gnomad	rs104894227
Varsome	rs104894227
LitVar	rs104894227
Map	rs104894227
PheGenI	rs104894227
Biobank	rs104894227
1000 genomes	rs104894227
hgdp	rs104894227
ensembl	rs104894227
geneview	rs104894227
scholar	rs104894227
google	rs104894227
pharmgkb	rs104894227
gwascentral	rs104894227
openSNP	rs104894227
23andMe	rs104894227
SNPshot	rs104894227
SNPdbe	rs104894227
MSV3d	rs104894227
GWAS Ctlg	rs104894227

Max Magnitude

7

aka c.350A>G (p.Lys117Arg)

23andMe name: i5005663

OMIM	190020
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894227(G;G)
Alt	rs104894227(G;G)
Reference	Rs104894227(A;A)
Significance	Pathogenic
Disease	Costello syndrome not provided
Variation	info
Gene	HRAS
CLNDBN	Costello syndrome not provided
Reversed	1
HGVS	NC_000011.9:g.533553T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013439.24, RCV000353386.1,