rs121918460

Orientation

plus

Stabilized

plus

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

Make rs121918460(G;G)

Make rs121918460(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450364

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918460
dbSNP (classic)	rs121918460
ClinGen	rs121918460
ebi	rs121918460
HLI	rs121918460
Exac	rs121918460
Gnomad	rs121918460
Varsome	rs121918460
LitVar	rs121918460
Map	rs121918460
PheGenI	rs121918460
Biobank	rs121918460
1000 genomes	rs121918460
hgdp	rs121918460
ensembl	rs121918460
geneview	rs121918460
scholar	rs121918460
google	rs121918460
pharmgkb	rs121918460
gwascentral	rs121918460
openSNP	rs121918460
23andMe	rs121918460
SNPshot	rs121918460
SNPdbe	rs121918460
MSV3d	rs121918460
GWAS Ctlg	rs121918460

Max Magnitude

0

OMIM	176876
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918460(A;A) rs121918460(G;G)
Alt	rs121918460(A;A) rs121918460(G;G)
Reference	Rs121918460(T;T)
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.112888168T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014257.23, RCV000033466.6, RCV000153794.4, RCV000156993.1,