rs121918457

Orientation

plus

Stabilized

plus

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

Make rs121918457(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112488466

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918457
dbSNP (classic)	rs121918457
ClinGen	rs121918457
ebi	rs121918457
HLI	rs121918457
Exac	rs121918457
Gnomad	rs121918457
Varsome	rs121918457
LitVar	rs121918457
Map	rs121918457
PheGenI	rs121918457
Biobank	rs121918457
1000 genomes	rs121918457
hgdp	rs121918457
ensembl	rs121918457
geneview	rs121918457
scholar	rs121918457
google	rs121918457
pharmgkb	rs121918457
gwascentral	rs121918457
openSNP	rs121918457
23andMe	rs121918457
SNPshot	rs121918457
SNPdbe	rs121918457
MSV3d	rs121918457
GWAS Ctlg	rs121918457

Max Magnitude

7

aka c.1403C>T (p.Thr468Met)

23andMe name: i5003213

OMIM	176876
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918457(T;T)
Alt	rs121918457(T;T)
Reference	Rs121918457(C;C)
Significance	Other
Disease	Rasopathy LEOPARD syndrome 1 not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines Cardiovascular phenotype
Variation	info
Gene	PTPN11
CLNDBN	Rasopathy LEOPARD syndrome 1 not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines Cardiovascular phenotype
Reversed	0
HGVS	NC_000012.11:g.112926270C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000033533.9, RCV000055884.6, RCV000077851.5, RCV000106323.1, RCV000157014.1, RCV000208002.1, RCV000247771.1,