rs376607329

Orientation

plus

Stabilized

plus

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

Make rs376607329(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112472981

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs376607329
dbSNP (classic)	rs376607329
ClinGen	rs376607329
ebi	rs376607329
HLI	rs376607329
Exac	rs376607329
Gnomad	rs376607329
Varsome	rs376607329
LitVar	rs376607329
Map	rs376607329
PheGenI	rs376607329
Biobank	rs376607329
1000 genomes	rs376607329
hgdp	rs376607329
ensembl	rs376607329
geneview	rs376607329
scholar	rs376607329
google	rs376607329
pharmgkb	rs376607329
gwascentral	rs376607329
openSNP	rs376607329
23andMe	rs376607329
SNPshot	rs376607329
SNPdbe	rs376607329
MSV3d	rs376607329
GWAS Ctlg	rs376607329

Max Magnitude

7

c.794G>A (p.Arg265Gln)

ClinVar
Risk	rs376607329(A;A)
Alt	rs376607329(A;A)
Reference	Rs376607329(G;G)
Significance	Other
Disease	Noonan syndrome not provided Noonan syndrome 1 not specified Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome not provided Noonan syndrome 1 not specified Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112910785G>A
CLNSRC	University Hospital of Geneva
CLNACC	RCV000037658.3, RCV000153788.5, RCV000234910.1, RCV000259115.1, RCV000477501.1,