rs397507548

Orientation

plus

Stabilized

plus

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

Make rs397507548(A;C)

Make rs397507548(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489093

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507548
dbSNP (classic)	rs397507548
ClinGen	rs397507548
ebi	rs397507548
HLI	rs397507548
Exac	rs397507548
Gnomad	rs397507548
Varsome	rs397507548
LitVar	rs397507548
Map	rs397507548
PheGenI	rs397507548
Biobank	rs397507548
1000 genomes	rs397507548
hgdp	rs397507548
ensembl	rs397507548
geneview	rs397507548
scholar	rs397507548
google	rs397507548
pharmgkb	rs397507548
gwascentral	rs397507548
openSNP	rs397507548
23andMe	rs397507548
SNPshot	rs397507548
SNPdbe	rs397507548
MSV3d	rs397507548
GWAS Ctlg	rs397507548

Max Magnitude

0

ClinVar
Risk	rs397507548(C;C)
Alt	rs397507548(C;C)
Reference	Rs397507548(A;A)
Significance	Pathogenic
Disease	Rasopathy LEOPARD syndrome 1 Noonan syndrome with multiple lentigines not provided
Variation	info
Gene	PTPN11
CLNDBN	Rasopathy LEOPARD syndrome 1 Noonan syndrome with multiple lentigines not provided
Reversed	0
HGVS	NC_000012.11:g.112926897A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033550.6, RCV000055887.1, RCV000154371.2, RCV000157683.2,