rs121918463

Orientation

plus

Stabilized

plus

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

Make rs121918463(C;C)

Make rs121918463(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112477651

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918463
dbSNP (classic)	rs121918463
ClinGen	rs121918463
ebi	rs121918463
HLI	rs121918463
Exac	rs121918463
Gnomad	rs121918463
Varsome	rs121918463
LitVar	rs121918463
Map	rs121918463
PheGenI	rs121918463
Biobank	rs121918463
1000 genomes	rs121918463
hgdp	rs121918463
ensembl	rs121918463
geneview	rs121918463
scholar	rs121918463
google	rs121918463
pharmgkb	rs121918463
gwascentral	rs121918463
openSNP	rs121918463
23andMe	rs121918463
SNPshot	rs121918463
SNPdbe	rs121918463
MSV3d	rs121918463
GWAS Ctlg	rs121918463

Max Magnitude

0

OMIM	176876
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918463(A;A) rs121918463(C;C) rs121918463(G;G)
Alt	rs121918463(A;A) rs121918463(C;C) rs121918463(G;G)
Reference	Rs121918463(T;T)
Significance	Pathogenic
Disease	not provided Noonan syndrome 1 Noonan syndrome Early T cell progenitor acute lymphoblastic leukemia Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome 1 Noonan syndrome Early T cell progenitor acute lymphoblastic leukemia Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112915455T>A; NC_000012.11:g.112915455T>C; NC_000012.11:g.112915455T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000159051.1, RCV000014263.21, RCV000037663.5, RCV000077862.7, RCV000190417.1, RCV000458650.1, RCV000033513.6, RCV000037664.2, RCV000212895.1,