rs397507509

Orientation

plus

Stabilized

plus

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

Make rs397507509(C;C)

Make rs397507509(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450359

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507509
dbSNP (classic)	rs397507509
ClinGen	rs397507509
ebi	rs397507509
HLI	rs397507509
Exac	rs397507509
Gnomad	rs397507509
Varsome	rs397507509
LitVar	rs397507509
Map	rs397507509
PheGenI	rs397507509
Biobank	rs397507509
1000 genomes	rs397507509
hgdp	rs397507509
ensembl	rs397507509
geneview	rs397507509
scholar	rs397507509
google	rs397507509
pharmgkb	rs397507509
gwascentral	rs397507509
openSNP	rs397507509
23andMe	rs397507509
SNPshot	rs397507509
SNPdbe	rs397507509
MSV3d	rs397507509
GWAS Ctlg	rs397507509

Max Magnitude

0

ClinVar
Risk	rs397507509(C;C) rs397507509(T;T)
Alt	rs397507509(C;C) rs397507509(T;T)
Reference	Rs397507509(G;G)
Significance	Pathogenic
Disease	not provided Noonan syndrome Noonan syndrome 1 Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome Noonan syndrome 1 Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112888163G>C; NC_000012.11:g.112888163G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033461.2, RCV000037631.3, RCV000416546.1, RCV000459297.1, RCV000049228.2, RCV000414941.1,