rs121918467

Orientation

plus

Stabilized

plus

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

Make rs121918467(C;T)

Make rs121918467(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112486482

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918467
dbSNP (classic)	rs121918467
ClinGen	rs121918467
ebi	rs121918467
HLI	rs121918467
Exac	rs121918467
Gnomad	rs121918467
Varsome	rs121918467
LitVar	rs121918467
Map	rs121918467
PheGenI	rs121918467
Biobank	rs121918467
1000 genomes	rs121918467
hgdp	rs121918467
ensembl	rs121918467
geneview	rs121918467
scholar	rs121918467
google	rs121918467
pharmgkb	rs121918467
gwascentral	rs121918467
openSNP	rs121918467
23andMe	rs121918467
SNPshot	rs121918467
SNPdbe	rs121918467
MSV3d	rs121918467
GWAS Ctlg	rs121918467

Max Magnitude

0

OMIM	176876
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121918467(A;A) rs121918467(T;T)
Alt	rs121918467(A;A) rs121918467(T;T)
Reference	Rs121918467(C;C)
Significance	Pathogenic
Disease	Noonan syndrome 1
Variation	info
Gene	PTPN11
CLNDBN	Noonan syndrome 1
Reversed	0
HGVS	NC_000012.11:g.112924286C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014269.2,