rs121918458

Orientation

plus

Stabilized

plus

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

Make rs121918458(A;A)

Make rs121918458(A;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489080

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918458
dbSNP (classic)	rs121918458
ClinGen	rs121918458
ebi	rs121918458
HLI	rs121918458
Exac	rs121918458
Gnomad	rs121918458
Varsome	rs121918458
LitVar	rs121918458
Map	rs121918458
PheGenI	rs121918458
Biobank	rs121918458
1000 genomes	rs121918458
hgdp	rs121918458
ensembl	rs121918458
geneview	rs121918458
scholar	rs121918458
google	rs121918458
pharmgkb	rs121918458
gwascentral	rs121918458
openSNP	rs121918458
23andMe	rs121918458
SNPshot	rs121918458
SNPdbe	rs121918458
MSV3d	rs121918458
GWAS Ctlg	rs121918458

Max Magnitude

0

OMIM	176876
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918458(A;A) rs121918458(G;G)
Alt	rs121918458(A;A) rs121918458(G;G)
Reference	Rs121918458(T;T)
Significance	Pathogenic
Disease	Noonan syndrome 1 Rasopathy Noonan syndrome not provided
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome 1 Rasopathy Noonan syndrome not provided
Reversed	0
HGVS	NC_000012.11:g.112926884T>A; NC_000012.11:g.112926884T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014260.28, RCV000033543.4, RCV000156995.1, RCV000212897.1, RCV000033542.5, RCV000212898.2,