rs121918466

Orientation

plus

Stabilized

plus

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

Make rs121918466(A;G)

Make rs121918466(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450416

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918466
dbSNP (classic)	rs121918466
ClinGen	rs121918466
ebi	rs121918466
HLI	rs121918466
Exac	rs121918466
Gnomad	rs121918466
Varsome	rs121918466
LitVar	rs121918466
Map	rs121918466
PheGenI	rs121918466
Biobank	rs121918466
1000 genomes	rs121918466
hgdp	rs121918466
ensembl	rs121918466
geneview	rs121918466
scholar	rs121918466
google	rs121918466
pharmgkb	rs121918466
gwascentral	rs121918466
openSNP	rs121918466
23andMe	rs121918466
SNPshot	rs121918466
SNPdbe	rs121918466
MSV3d	rs121918466
GWAS Ctlg	rs121918466

Max Magnitude

0

OMIM	176876
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121918466(G;G)
Alt	rs121918466(G;G)
Reference	Rs121918466(A;A)
Significance	Pathogenic
Disease	Noonan syndrome 1 Rasopathy Noonan syndrome not provided
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome 1 Rasopathy Noonan syndrome not provided
Reversed	0
HGVS	NC_000012.11:g.112888220A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014268.5, RCV000033480.7, RCV000037641.3, RCV000157680.2,