rs121918455

Orientation

plus

Stabilized

plus

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

Make rs121918455(A;G)

Make rs121918455(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112477720

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918455
dbSNP (classic)	rs121918455
ClinGen	rs121918455
ebi	rs121918455
HLI	rs121918455
Exac	rs121918455
Gnomad	rs121918455
Varsome	rs121918455
LitVar	rs121918455
Map	rs121918455
PheGenI	rs121918455
Biobank	rs121918455
1000 genomes	rs121918455
hgdp	rs121918455
ensembl	rs121918455
geneview	rs121918455
scholar	rs121918455
google	rs121918455
pharmgkb	rs121918455
gwascentral	rs121918455
openSNP	rs121918455
23andMe	rs121918455
SNPshot	rs121918455
SNPdbe	rs121918455
MSV3d	rs121918455
GWAS Ctlg	rs121918455

Max Magnitude

0

OMIM	176876
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918455(C;C) rs121918455(G;G)
Alt	rs121918455(C;C) rs121918455(G;G)
Reference	Rs121918455(A;A)
Significance	Pathogenic
Disease	not provided Noonan syndrome Noonan syndrome 1 Rasopathy
Variation	info
Gene	PTPN11
CLNDBN	not provided Noonan syndrome Noonan syndrome 1 Rasopathy
Reversed	0
HGVS	NC_000012.11:g.112915524A>C; NC_000012.11:g.112915524A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033517.4, RCV000037668.4, RCV000014255.32, RCV000033518.7, RCV000037669.5, RCV000157682.2,