rs397507512

Orientation

plus

Stabilized

plus

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

Make rs397507512(C;C)

Make rs397507512(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450391

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs397507512
dbSNP (classic)	rs397507512
ClinGen	rs397507512
ebi	rs397507512
HLI	rs397507512
Exac	rs397507512
Gnomad	rs397507512
Varsome	rs397507512
LitVar	rs397507512
Map	rs397507512
PheGenI	rs397507512
Biobank	rs397507512
1000 genomes	rs397507512
hgdp	rs397507512
ensembl	rs397507512
geneview	rs397507512
scholar	rs397507512
google	rs397507512
pharmgkb	rs397507512
gwascentral	rs397507512
openSNP	rs397507512
23andMe	rs397507512
SNPshot	rs397507512
SNPdbe	rs397507512
MSV3d	rs397507512
GWAS Ctlg	rs397507512

Max Magnitude

0

ClinVar
Risk	rs397507512(C;C) rs397507512(G;G)
Alt	rs397507512(C;C) rs397507512(G;G)
Reference	Rs397507512(T;T)
Significance	Pathogenic
Disease	not provided Noonan syndrome
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112888195T>C; NC_000012.11:g.112888195T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033470.4, RCV000151689.1, RCV000159044.1,