rs397507531

Orientation

plus

Stabilized

plus

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

Make rs397507531(G;G)

Make rs397507531(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112473040

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507531
dbSNP (classic)	rs397507531
ClinGen	rs397507531
ebi	rs397507531
HLI	rs397507531
Exac	rs397507531
Gnomad	rs397507531
Varsome	rs397507531
LitVar	rs397507531
Map	rs397507531
PheGenI	rs397507531
Biobank	rs397507531
1000 genomes	rs397507531
hgdp	rs397507531
ensembl	rs397507531
geneview	rs397507531
scholar	rs397507531
google	rs397507531
pharmgkb	rs397507531
gwascentral	rs397507531
openSNP	rs397507531
23andMe	rs397507531
SNPshot	rs397507531
SNPdbe	rs397507531
MSV3d	rs397507531
GWAS Ctlg	rs397507531

Max Magnitude

0

ClinVar
Risk	rs397507531(C;C) rs397507531(G;G)
Alt	rs397507531(C;C) rs397507531(G;G)
Reference	Rs397507531(T;T)
Significance	Pathogenic
Disease	Noonan syndrome not provided Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome not provided Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112910844T>C
CLNSRC	HGMD
CLNACC	RCV000037662.2, RCV000077861.7, RCV000231840.2,