rs121918454

Orientation

plus

Stabilized

plus

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

Make rs121918454(C;G)

Make rs121918454(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112450395

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918454
dbSNP (classic)	rs121918454
ClinGen	rs121918454
ebi	rs121918454
HLI	rs121918454
Exac	rs121918454
Gnomad	rs121918454
Varsome	rs121918454
LitVar	rs121918454
Map	rs121918454
PheGenI	rs121918454
Biobank	rs121918454
1000 genomes	rs121918454
hgdp	rs121918454
ensembl	rs121918454
geneview	rs121918454
scholar	rs121918454
google	rs121918454
pharmgkb	rs121918454
gwascentral	rs121918454
openSNP	rs121918454
23andMe	rs121918454
SNPshot	rs121918454
SNPdbe	rs121918454
MSV3d	rs121918454
GWAS Ctlg	rs121918454

Max Magnitude

0

OMIM	176876
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918454(A;A) rs121918454(G;G) rs121918454(T;T)
Alt	rs121918454(A;A) rs121918454(G;G) rs121918454(T;T)
Reference	Rs121918454(C;C)
Significance	Pathogenic
Disease	Acute myeloid leukemia Chronic lymphocytic leukemia Neoplasm of brain Neuroblastoma Noonan syndrome 1 Noonan syndrome not provided not specified
Variation	info
Gene	PTPN11
CLNDBN	Acute myeloid leukemia Chronic lymphocytic leukemia Neoplasm of brain Neuroblastoma Noonan syndrome 1 Noonan syndrome not provided not specified
Reversed	0
HGVS	NC_000012.11:g.112888199C>A; NC_000012.11:g.112888199C>G; NC_000012.11:g.112888199C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) HGMD
CLNACC	RCV000420417.1, RCV000430256.1, RCV000440942.1, RCV000441142.1, RCV000014253.26, RCV000157006.2, RCV000157679.3, RCV000034328.5, RCV000413699.1, RCV000420663.1, RCV000425022.1, RCV000431335.1, RCV000434875.1,