rs397507540

Orientation

plus

Stabilized

plus

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

Make rs397507540(A;A)

Make rs397507540(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489048

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507540
dbSNP (classic)	rs397507540
ClinGen	rs397507540
ebi	rs397507540
HLI	rs397507540
Exac	rs397507540
Gnomad	rs397507540
Varsome	rs397507540
LitVar	rs397507540
Map	rs397507540
PheGenI	rs397507540
Biobank	rs397507540
1000 genomes	rs397507540
hgdp	rs397507540
ensembl	rs397507540
geneview	rs397507540
scholar	rs397507540
google	rs397507540
pharmgkb	rs397507540
gwascentral	rs397507540
openSNP	rs397507540
23andMe	rs397507540
SNPshot	rs397507540
SNPdbe	rs397507540
MSV3d	rs397507540
GWAS Ctlg	rs397507540

Max Magnitude

0

ClinVar
Risk	rs397507540(A;A) rs397507540(T;T)
Alt	rs397507540(A;A) rs397507540(T;T)
Reference	Rs397507540(C;C)
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.112926852C>A; NC_000012.11:g.112926852C>T
CLNSRC	ClinVar
CLNACC	RCV000033537.4, RCV000037617.3, RCV000033538.5, RCV000156989.1, RCV000254685.2,