rs397507511

Orientation

plus

Stabilized

plus

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

Make rs397507511(C;C)

Make rs397507511(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450385

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507511
dbSNP (classic)	rs397507511
ClinGen	rs397507511
ebi	rs397507511
HLI	rs397507511
Exac	rs397507511
Gnomad	rs397507511
Varsome	rs397507511
LitVar	rs397507511
Map	rs397507511
PheGenI	rs397507511
Biobank	rs397507511
1000 genomes	rs397507511
hgdp	rs397507511
ensembl	rs397507511
geneview	rs397507511
scholar	rs397507511
google	rs397507511
pharmgkb	rs397507511
gwascentral	rs397507511
openSNP	rs397507511
23andMe	rs397507511
SNPshot	rs397507511
SNPdbe	rs397507511
MSV3d	rs397507511
GWAS Ctlg	rs397507511

Max Magnitude

0

ClinVar
Risk	rs397507511(A;A) rs397507511(C;C)
Alt	rs397507511(A;A) rs397507511(C;C)
Reference	Rs397507511(G;G)
Significance	Pathogenic
Disease	not provided Rasopathy Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	not provided Rasopathy Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112888189G>A; NC_000012.11:g.112888189G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000210038.1, RCV000033469.6, RCV000037633.3, RCV000212889.1,