rs80338836

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GTG;GTG)	0	common in clinvar
(I;I)	0	common genotype
(TGG;TGG)	0	common in clinvar

Make rs80338836(-;-)

Make rs80338836(-;GTG)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450359

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs80338836
dbSNP (classic)	rs80338836
ClinGen	rs80338836
ebi	rs80338836
HLI	rs80338836
Exac	rs80338836
Gnomad	rs80338836
Varsome	rs80338836
LitVar	rs80338836
Map	rs80338836
PheGenI	rs80338836
Biobank	rs80338836
1000 genomes	rs80338836
hgdp	rs80338836
ensembl	rs80338836
geneview	rs80338836
scholar	rs80338836
google	rs80338836
pharmgkb	rs80338836
gwascentral	rs80338836
openSNP	rs80338836
23andMe	rs80338836
SNPshot	rs80338836
SNPdbe	rs80338836
MSV3d	rs80338836
GWAS Ctlg	rs80338836

Merged from

Rs121918471

Max Magnitude

0

OMIM	176876
Desc
Variant	0024
Related	also

ClinVar
Risk	rs80338836(-;-) rs80338836(GGT;GGT)
Alt	rs80338836(-;-) rs80338836(GGT;GGT)
Reference	Rs80338836(GTG;GTG)
Significance	Pathogenic
Disease	Noonan syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112888163_112888165delGTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014274.3,

[PMID 15240615] Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.