rs121918459

Orientation

plus

Stabilized

plus

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

Make rs121918459(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450368

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918459
dbSNP (classic)	rs121918459
ClinGen	rs121918459
ebi	rs121918459
HLI	rs121918459
Exac	rs121918459
Gnomad	rs121918459
Varsome	rs121918459
LitVar	rs121918459
Map	rs121918459
PheGenI	rs121918459
Biobank	rs121918459
1000 genomes	rs121918459
hgdp	rs121918459
ensembl	rs121918459
geneview	rs121918459
scholar	rs121918459
google	rs121918459
pharmgkb	rs121918459
gwascentral	rs121918459
openSNP	rs121918459
23andMe	rs121918459
SNPshot	rs121918459
SNPdbe	rs121918459
MSV3d	rs121918459
GWAS Ctlg	rs121918459

Max Magnitude

7

aka c.188A>G (p.Tyr63Cys)

23andMe name: i5003211

OMIM	176876
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918459(G;G)
Alt	rs121918459(G;G)
Reference	Rs121918459(A;A)
Significance	Pathogenic
Disease	Noonan syndrome 1 Rasopathy not provided Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome 1 Rasopathy not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112888172A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014261.25, RCV000033468.8, RCV000077857.6, RCV000157000.3,