rs121918456

Orientation

plus

Stabilized

plus

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

Make rs121918456(A;G)

Make rs121918456(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112473023

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918456
dbSNP (classic)	rs121918456
ClinGen	rs121918456
ebi	rs121918456
HLI	rs121918456
Exac	rs121918456
Gnomad	rs121918456
Varsome	rs121918456
LitVar	rs121918456
Map	rs121918456
PheGenI	rs121918456
Biobank	rs121918456
1000 genomes	rs121918456
hgdp	rs121918456
ensembl	rs121918456
geneview	rs121918456
scholar	rs121918456
google	rs121918456
pharmgkb	rs121918456
gwascentral	rs121918456
openSNP	rs121918456
23andMe	rs121918456
SNPshot	rs121918456
SNPdbe	rs121918456
MSV3d	rs121918456
GWAS Ctlg	rs121918456

Max Magnitude

0

OMIM	176876
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918456(C;C) rs121918456(G;G)
Alt	rs121918456(C;C) rs121918456(G;G)
Reference	Rs121918456(A;A)
Significance	Pathogenic
Disease	LEOPARD syndrome 1 Noonan syndrome Rasopathy not provided Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Variation	info
Gene	PTPN11
CLNDBN	LEOPARD syndrome 1 Noonan syndrome Rasopathy not provided Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Reversed	0
HGVS	NC_000012.11:g.112910827A>C; NC_000012.11:g.112910827A>G
CLNSRC	UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000055889.1, RCV000030620.1, RCV000033504.9, RCV000055890.6, RCV000077859.5, RCV000492270.1,