rs397507525

Orientation

plus

Stabilized

plus

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

Make rs397507525(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112472968

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507525
dbSNP (classic)	rs397507525
ClinGen	rs397507525
ebi	rs397507525
HLI	rs397507525
Exac	rs397507525
Gnomad	rs397507525
Varsome	rs397507525
LitVar	rs397507525
Map	rs397507525
PheGenI	rs397507525
Biobank	rs397507525
1000 genomes	rs397507525
hgdp	rs397507525
ensembl	rs397507525
geneview	rs397507525
scholar	rs397507525
google	rs397507525
pharmgkb	rs397507525
gwascentral	rs397507525
openSNP	rs397507525
23andMe	rs397507525
SNPshot	rs397507525
SNPdbe	rs397507525
MSV3d	rs397507525
GWAS Ctlg	rs397507525

Max Magnitude

7

aka c.781C>T (p.Leu261Phe)

ClinVar
Risk	rs397507525(T;T)
Alt	rs397507525(T;T)
Reference	Rs397507525(C;C)
Significance	Other
Disease	Noonan syndrome not provided
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome not provided
Reversed	0
HGVS	NC_000012.11:g.112910772C>T
CLNSRC	ClinVar
CLNACC	RCV000037657.3, RCV000157701.3,