rs121918461

Orientation

plus

Stabilized

plus

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

Make rs121918461(A;G)

Make rs121918461(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450362

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918461
dbSNP (classic)	rs121918461
ClinGen	rs121918461
ebi	rs121918461
HLI	rs121918461
Exac	rs121918461
Gnomad	rs121918461
Varsome	rs121918461
LitVar	rs121918461
Map	rs121918461
PheGenI	rs121918461
Biobank	rs121918461
1000 genomes	rs121918461
hgdp	rs121918461
ensembl	rs121918461
geneview	rs121918461
scholar	rs121918461
google	rs121918461
pharmgkb	rs121918461
gwascentral	rs121918461
openSNP	rs121918461
23andMe	rs121918461
SNPshot	rs121918461
SNPdbe	rs121918461
MSV3d	rs121918461
GWAS Ctlg	rs121918461

Max Magnitude

0

OMIM	176876
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918461(C;C) rs121918461(G;G) rs121918461(T;T)
Alt	rs121918461(C;C) rs121918461(G;G) rs121918461(T;T)
Reference	Rs121918461(A;A)
Significance	Pathogenic
Disease	Noonan syndrome Noonan syndrome 1 Rasopathy not provided
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome Noonan syndrome 1 Rasopathy not provided
Reversed	0
HGVS	NC_000012.11:g.112888166A>C; NC_000012.11:g.112888166A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000156008.1, RCV000014258.27, RCV000033464.5, RCV000077856.5, RCV000156984.1,