rs397507503

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7	Noonan syndrome

Make rs397507503(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450335

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507503
dbSNP (classic)	rs397507503
ClinGen	rs397507503
ebi	rs397507503
HLI	rs397507503
Exac	rs397507503
Gnomad	rs397507503
Varsome	rs397507503
LitVar	rs397507503
Map	rs397507503
PheGenI	rs397507503
Biobank	rs397507503
1000 genomes	rs397507503
hgdp	rs397507503
ensembl	rs397507503
geneview	rs397507503
scholar	rs397507503
google	rs397507503
pharmgkb	rs397507503
gwascentral	rs397507503
openSNP	rs397507503
23andMe	rs397507503
SNPshot	rs397507503
SNPdbe	rs397507503
MSV3d	rs397507503
GWAS Ctlg	rs397507503

Max Magnitude

7

aka c.155C>T (p.Thr52Ile)

ClinVar
Risk	rs397507503(T;T)
Alt	rs397507503(T;T)
Reference	Rs397507503(C;C)
Significance	Probable-Pathogenic
Disease	not provided Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112888139C>T
CLNSRC	ClinVar
CLNACC	RCV000033452.5, RCV000037621.3,