rs397516802

Orientation

plus

Stabilized

plus

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

Make rs397516802(AC;CT)

Make rs397516802(CT;CT)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450397

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397516802
dbSNP (classic)	rs397516802
ClinGen	rs397516802
ebi	rs397516802
HLI	rs397516802
Exac	rs397516802
Gnomad	rs397516802
Varsome	rs397516802
LitVar	rs397516802
Map	rs397516802
PheGenI	rs397516802
Biobank	rs397516802
1000 genomes	rs397516802
hgdp	rs397516802
ensembl	rs397516802
geneview	rs397516802
scholar	rs397516802
google	rs397516802
pharmgkb	rs397516802
gwascentral	rs397516802
openSNP	rs397516802
23andMe	rs397516802
SNPshot	rs397516802
SNPdbe	rs397516802
MSV3d	rs397516802
GWAS Ctlg	rs397516802

Max Magnitude

0

ClinVar
Risk	rs397516802(CT;CT)
Alt	rs397516802(CT;CT)
Reference	Rs397516802(AC;AC)
Significance	Pathogenic
Disease	Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112888201_112888202delACinsCT
CLNSRC	ClinVar
CLNACC	RCV000037637.2,