rs121918469

Orientation

plus

Stabilized

plus

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

Make rs121918469(C;C)

Make rs121918469(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112488454

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs121918469
dbSNP (classic)	rs121918469
ClinGen	rs121918469
ebi	rs121918469
HLI	rs121918469
Exac	rs121918469
Gnomad	rs121918469
Varsome	rs121918469
LitVar	rs121918469
Map	rs121918469
PheGenI	rs121918469
Biobank	rs121918469
1000 genomes	rs121918469
hgdp	rs121918469
ensembl	rs121918469
geneview	rs121918469
scholar	rs121918469
google	rs121918469
pharmgkb	rs121918469
gwascentral	rs121918469
openSNP	rs121918469
23andMe	rs121918469
SNPshot	rs121918469
SNPdbe	rs121918469
MSV3d	rs121918469
GWAS Ctlg	rs121918469

Max Magnitude

0

OMIM	176876
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121918469(C;C)
Alt	rs121918469(C;C)
Reference	Rs121918469(G;G)
Significance	Pathogenic
Disease	Rasopathy LEOPARD syndrome 1 not provided
Variation	info
Gene	PTPN11
CLNDBN	Rasopathy LEOPARD syndrome 1 not provided
Reversed	0
HGVS	NC_000012.11:g.112926258G>C
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000033531.5, RCV000055883.7, RCV000077850.5,