rs397507543

Orientation

plus

Stabilized

plus

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

Make rs397507543(A;A)

Make rs397507543(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489078

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507543
dbSNP (classic)	rs397507543
ClinGen	rs397507543
ebi	rs397507543
HLI	rs397507543
Exac	rs397507543
Gnomad	rs397507543
Varsome	rs397507543
LitVar	rs397507543
Map	rs397507543
PheGenI	rs397507543
Biobank	rs397507543
1000 genomes	rs397507543
hgdp	rs397507543
ensembl	rs397507543
geneview	rs397507543
scholar	rs397507543
google	rs397507543
pharmgkb	rs397507543
gwascentral	rs397507543
openSNP	rs397507543
23andMe	rs397507543
SNPshot	rs397507543
SNPdbe	rs397507543
MSV3d	rs397507543
GWAS Ctlg	rs397507543

Max Magnitude

0

ClinVar
Risk	rs397507543(A;A)
Alt	rs397507543(A;A)
Reference	Rs397507543(G;G)
Significance	Pathogenic
Disease	not provided Noonan syndrome Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112926882G>A
CLNSRC	ClinVar
CLNACC	RCV000033541.4, RCV000037618.3, RCV000466382.1,