rs121918468

Orientation

plus

Stabilized

plus

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

Make rs121918468(A;A)

Make rs121918468(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112488444

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918468
dbSNP (classic)	rs121918468
ClinGen	rs121918468
ebi	rs121918468
HLI	rs121918468
Exac	rs121918468
Gnomad	rs121918468
Varsome	rs121918468
LitVar	rs121918468
Map	rs121918468
PheGenI	rs121918468
Biobank	rs121918468
1000 genomes	rs121918468
hgdp	rs121918468
ensembl	rs121918468
geneview	rs121918468
scholar	rs121918468
google	rs121918468
pharmgkb	rs121918468
gwascentral	rs121918468
openSNP	rs121918468
23andMe	rs121918468
SNPshot	rs121918468
SNPdbe	rs121918468
MSV3d	rs121918468
GWAS Ctlg	rs121918468

Max Magnitude

0

OMIM	176876
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121918468(A;A) rs121918468(T;T)
Alt	rs121918468(A;A) rs121918468(T;T)
Reference	Rs121918468(G;G)
Significance	Pathogenic
Disease	not provided Noonan syndrome with multiple lentigines LEOPARD syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome with multiple lentigines LEOPARD syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112926248G>A; NC_000012.11:g.112926248G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033530.4, RCV000037611.4, RCV000055882.4, RCV000033529.4, RCV000037612.2,