rs397507505

Orientation

plus

Stabilized

plus

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

Make rs397507505(A;C)

Make rs397507505(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450352

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507505
dbSNP (classic)	rs397507505
ClinGen	rs397507505
ebi	rs397507505
HLI	rs397507505
Exac	rs397507505
Gnomad	rs397507505
Varsome	rs397507505
LitVar	rs397507505
Map	rs397507505
PheGenI	rs397507505
Biobank	rs397507505
1000 genomes	rs397507505
hgdp	rs397507505
ensembl	rs397507505
geneview	rs397507505
scholar	rs397507505
google	rs397507505
pharmgkb	rs397507505
gwascentral	rs397507505
openSNP	rs397507505
23andMe	rs397507505
SNPshot	rs397507505
SNPdbe	rs397507505
MSV3d	rs397507505
GWAS Ctlg	rs397507505

Max Magnitude

0

ClinVar
Risk	rs397507505(C;C) rs397507505(G;G) rs397507505(T;T)
Alt	rs397507505(C;C) rs397507505(G;G) rs397507505(T;T)
Reference	Rs397507505(A;A)
Significance	Pathogenic
Disease	Noonan syndrome not provided Noonan syndrome 1 Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome not provided Noonan syndrome 1 Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112888156A>C; NC_000012.11:g.112888156A>G; NC_000012.11:g.112888156A>T
CLNSRC	ClinVar
CLNACC	RCV000037626.3, RCV000157676.2, RCV000275895.1, RCV000456871.1, RCV000033455.5, RCV000037627.2, RCV000234028.2, RCV000159042.1,