rs397507501

Orientation

plus

Stabilized

plus

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

Make rs397507501(A;G)

Make rs397507501(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112446385

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507501
dbSNP (classic)	rs397507501
ClinGen	rs397507501
ebi	rs397507501
HLI	rs397507501
Exac	rs397507501
Gnomad	rs397507501
Varsome	rs397507501
LitVar	rs397507501
Map	rs397507501
PheGenI	rs397507501
Biobank	rs397507501
1000 genomes	rs397507501
hgdp	rs397507501
ensembl	rs397507501
geneview	rs397507501
scholar	rs397507501
google	rs397507501
pharmgkb	rs397507501
gwascentral	rs397507501
openSNP	rs397507501
23andMe	rs397507501
SNPshot	rs397507501
SNPdbe	rs397507501
MSV3d	rs397507501
GWAS Ctlg	rs397507501

Max Magnitude

0

ClinVar
Risk	rs397507501(G;G)
Alt	rs397507501(G;G)
Reference	Rs397507501(A;A)
Significance	Pathogenic
Disease	Noonan syndrome not provided Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome not provided Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112884189A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000157002.3, RCV000157675.2, RCV000227194.1,