rs397507545

Orientation

plus

Stabilized

plus

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

Make rs397507545(C;C)

Make rs397507545(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489083

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507545
dbSNP (classic)	rs397507545
ClinGen	rs397507545
ebi	rs397507545
HLI	rs397507545
Exac	rs397507545
Gnomad	rs397507545
Varsome	rs397507545
LitVar	rs397507545
Map	rs397507545
PheGenI	rs397507545
Biobank	rs397507545
1000 genomes	rs397507545
hgdp	rs397507545
ensembl	rs397507545
geneview	rs397507545
scholar	rs397507545
google	rs397507545
pharmgkb	rs397507545
gwascentral	rs397507545
openSNP	rs397507545
23andMe	rs397507545
SNPshot	rs397507545
SNPdbe	rs397507545
MSV3d	rs397507545
GWAS Ctlg	rs397507545

Max Magnitude

0

ClinVar
Risk	rs397507545(A;A) rs397507545(C;C)
Alt	rs397507545(A;A) rs397507545(C;C)
Reference	Rs397507545(G;G)
Significance	Pathogenic
Disease	Rasopathy not provided Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	Rasopathy not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112926887G>A; NC_000012.11:g.112926887G>C
CLNSRC	HGMD
CLNACC	RCV000033546.6, RCV000077852.5, RCV000157015.1, RCV000033545.5, RCV000156971.1, RCV000210040.2,