rs121918464

Orientation

plus

Stabilized

plus

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

Make rs121918464(A;A)

Make rs121918464(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450406

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918464
dbSNP (classic)	rs121918464
ClinGen	rs121918464
ebi	rs121918464
HLI	rs121918464
Exac	rs121918464
Gnomad	rs121918464
Varsome	rs121918464
LitVar	rs121918464
Map	rs121918464
PheGenI	rs121918464
Biobank	rs121918464
1000 genomes	rs121918464
hgdp	rs121918464
ensembl	rs121918464
geneview	rs121918464
scholar	rs121918464
google	rs121918464
pharmgkb	rs121918464
gwascentral	rs121918464
openSNP	rs121918464
23andMe	rs121918464
SNPshot	rs121918464
SNPdbe	rs121918464
MSV3d	rs121918464
GWAS Ctlg	rs121918464

Max Magnitude

0

OMIM	176876
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121918464(A;A) rs121918464(C;C)
Alt	rs121918464(A;A) rs121918464(C;C)
Reference	Rs121918464(G;G)
Significance	Pathogenic
Disease	Juvenile myelomonocytic leukemia Rasopathy Noonan syndrome not provided Neuroblastoma Multiple myeloma Astrocytoma Squamous cell carcinoma of lung Colorectal Neoplasms
Variation	info
Gene	PTPN11
CLNDBN	Juvenile myelomonocytic leukemia Rasopathy Noonan syndrome not provided Neuroblastoma Multiple myeloma Astrocytoma Squamous cell carcinoma of lung Colorectal Neoplasms
Reversed	0
HGVS	NC_000012.11:g.112888210G>A; NC_000012.11:g.112888210G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014264.5, RCV000033476.6, RCV000156974.1, RCV000212892.1, RCV000422541.1, RCV000422851.1, RCV000432364.1, RCV000433549.1, RCV000439757.1, RCV000159045.1,