rs121918470

Orientation

plus

Stabilized

plus

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

Make rs121918470(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489105

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918470
dbSNP (classic)	rs121918470
ClinGen	rs121918470
ebi	rs121918470
HLI	rs121918470
Exac	rs121918470
Gnomad	rs121918470
Varsome	rs121918470
LitVar	rs121918470
Map	rs121918470
PheGenI	rs121918470
Biobank	rs121918470
1000 genomes	rs121918470
hgdp	rs121918470
ensembl	rs121918470
geneview	rs121918470
scholar	rs121918470
google	rs121918470
pharmgkb	rs121918470
gwascentral	rs121918470
openSNP	rs121918470
23andMe	rs121918470
SNPshot	rs121918470
SNPdbe	rs121918470
MSV3d	rs121918470
GWAS Ctlg	rs121918470

Max Magnitude

7

aka c.1529A>C (p.Gln510Pro)

OMIM	176876
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121918470(C;C) rs121918470(G;G)
Alt	rs121918470(C;C) rs121918470(G;G)
Reference	Rs121918470(A;A)
Significance	Pathogenic
Disease	LEOPARD syndrome 1 Rasopathy not provided Noonan syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	LEOPARD syndrome 1 Rasopathy not provided Noonan syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112926909A>C; NC_000012.11:g.112926909A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014272.26, RCV000033554.3, RCV000210036.1, RCV000014273.3, RCV000414743.1,