rs397507530

Orientation

plus

Stabilized

plus

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

Make rs397507530(C;G)

Make rs397507530(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112473033

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507530
dbSNP (classic)	rs397507530
ClinGen	rs397507530
ebi	rs397507530
HLI	rs397507530
Exac	rs397507530
Gnomad	rs397507530
Varsome	rs397507530
LitVar	rs397507530
Map	rs397507530
PheGenI	rs397507530
Biobank	rs397507530
1000 genomes	rs397507530
hgdp	rs397507530
ensembl	rs397507530
geneview	rs397507530
scholar	rs397507530
google	rs397507530
pharmgkb	rs397507530
gwascentral	rs397507530
openSNP	rs397507530
23andMe	rs397507530
SNPshot	rs397507530
SNPdbe	rs397507530
MSV3d	rs397507530
GWAS Ctlg	rs397507530

Max Magnitude

0

ClinVar
Risk	rs397507530(G;G)
Alt	rs397507530(G;G)
Reference	Rs397507530(C;C)
Significance	Pathogenic
Disease	not provided Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112910837C>G
CLNSRC	ClinVar
CLNACC	RCV000033506.4, RCV000037661.3,