rs121918453

Orientation

plus

Stabilized

plus

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

Make rs121918453(G;T)

Make rs121918453(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450394

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918453
dbSNP (classic)	rs121918453
ClinGen	rs121918453
ebi	rs121918453
HLI	rs121918453
Exac	rs121918453
Gnomad	rs121918453
Varsome	rs121918453
LitVar	rs121918453
Map	rs121918453
PheGenI	rs121918453
Biobank	rs121918453
1000 genomes	rs121918453
hgdp	rs121918453
ensembl	rs121918453
geneview	rs121918453
scholar	rs121918453
google	rs121918453
pharmgkb	rs121918453
gwascentral	rs121918453
openSNP	rs121918453
23andMe	rs121918453
SNPshot	rs121918453
SNPdbe	rs121918453
MSV3d	rs121918453
GWAS Ctlg	rs121918453

Max Magnitude

0

OMIM	176876
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918453(A;A) rs121918453(C;C) rs121918453(T;T)
Alt	rs121918453(A;A) rs121918453(C;C) rs121918453(T;T)
Reference	Rs121918453(G;G)
Significance	Pathogenic
Disease	Rasopathy Neuroblastoma Neoplasm of brain Chronic lymphocytic leukemia Acute myeloid leukemia not provided Noonan syndrome Noonan syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	Rasopathy Neuroblastoma Neoplasm of brain Chronic lymphocytic leukemia Acute myeloid leukemia not provided Noonan syndrome Noonan syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112888198G>A; NC_000012.11:g.112888198G>C; NC_000012.11:g.112888198G>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000154367.2, RCV000417864.1, RCV000425277.1, RCV000435950.1, RCV000443279.1, RCV000033472.4, RCV000037635.2, RCV000014252.26, RCV000033471.6, RCV000157001.1, RCV000212890.2,