rs397507506

Orientation

plus

Stabilized

plus

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

Make rs397507506(A;A)

Make rs397507506(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450354

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507506
dbSNP (classic)	rs397507506
ClinGen	rs397507506
ebi	rs397507506
HLI	rs397507506
Exac	rs397507506
Gnomad	rs397507506
Varsome	rs397507506
LitVar	rs397507506
Map	rs397507506
PheGenI	rs397507506
Biobank	rs397507506
1000 genomes	rs397507506
hgdp	rs397507506
ensembl	rs397507506
geneview	rs397507506
scholar	rs397507506
google	rs397507506
pharmgkb	rs397507506
gwascentral	rs397507506
openSNP	rs397507506
23andMe	rs397507506
SNPshot	rs397507506
SNPdbe	rs397507506
MSV3d	rs397507506
GWAS Ctlg	rs397507506

Max Magnitude

0

ClinVar
Risk	rs397507506(A;A) rs397507506(G;G)
Alt	rs397507506(A;A) rs397507506(G;G)
Reference	Rs397507506(C;C)
Significance	Pathogenic
Disease	Noonan syndrome not provided Noonan syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome not provided Noonan syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112888158C>A; NC_000012.11:g.112888158C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000037629.2, RCV000157677.2, RCV000033457.4, RCV000037630.4, RCV000211846.1,