rs121918462

Orientation

plus

Stabilized

plus

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

Make rs121918462(C;T)

Make rs121918462(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450398

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918462
dbSNP (classic)	rs121918462
ClinGen	rs121918462
ebi	rs121918462
HLI	rs121918462
Exac	rs121918462
Gnomad	rs121918462
Varsome	rs121918462
LitVar	rs121918462
Map	rs121918462
PheGenI	rs121918462
Biobank	rs121918462
1000 genomes	rs121918462
hgdp	rs121918462
ensembl	rs121918462
geneview	rs121918462
scholar	rs121918462
google	rs121918462
pharmgkb	rs121918462
gwascentral	rs121918462
openSNP	rs121918462
23andMe	rs121918462
SNPshot	rs121918462
SNPdbe	rs121918462
MSV3d	rs121918462
GWAS Ctlg	rs121918462

Max Magnitude

0

OMIM	176876
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121918462(T;T)
Alt	rs121918462(T;T)
Reference	Rs121918462(C;C)
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.112888202C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014262.24, RCV000033475.6, RCV000156985.1, RCV000212891.2,