rs397507514

Orientation

plus

Stabilized

plus

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

Make rs397507514(G;T)

Make rs397507514(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450408

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507514
dbSNP (classic)	rs397507514
ClinGen	rs397507514
ebi	rs397507514
HLI	rs397507514
Exac	rs397507514
Gnomad	rs397507514
Varsome	rs397507514
LitVar	rs397507514
Map	rs397507514
PheGenI	rs397507514
Biobank	rs397507514
1000 genomes	rs397507514
hgdp	rs397507514
ensembl	rs397507514
geneview	rs397507514
scholar	rs397507514
google	rs397507514
pharmgkb	rs397507514
gwascentral	rs397507514
openSNP	rs397507514
23andMe	rs397507514
SNPshot	rs397507514
SNPdbe	rs397507514
MSV3d	rs397507514
GWAS Ctlg	rs397507514

Max Magnitude

0

ClinVar
Risk	rs397507514(C;C) rs397507514(T;T)
Alt	rs397507514(C;C) rs397507514(T;T)
Reference	Rs397507514(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.112888212G>C; NC_000012.11:g.112888212G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033479.5, RCV000037638.2, RCV000472904.1, RCV000033478.5, RCV000037639.3, RCV000254683.2,