rs398122861

Orientation

plus

Stabilized

plus

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

Make rs398122861(A;C)

Make rs398122861(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112455948

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs398122861
dbSNP (classic)	rs398122861
ClinGen	rs398122861
ebi	rs398122861
HLI	rs398122861
Exac	rs398122861
Gnomad	rs398122861
Varsome	rs398122861
LitVar	rs398122861
Map	rs398122861
PheGenI	rs398122861
Biobank	rs398122861
1000 genomes	rs398122861
hgdp	rs398122861
ensembl	rs398122861
geneview	rs398122861
scholar	rs398122861
google	rs398122861
pharmgkb	rs398122861
gwascentral	rs398122861
openSNP	rs398122861
23andMe	rs398122861
SNPshot	rs398122861
SNPdbe	rs398122861
MSV3d	rs398122861
GWAS Ctlg	rs398122861

Max Magnitude

0

ClinVar
Risk	rs398122861(C;C)
Alt	rs398122861(C;C)
Reference	Rs398122861(A;A)
Significance	Pathogenic
Disease	Metachondromatosis
Variation	info
Gene	PTPN11
CLNDBN	Metachondromatosis
Reversed	0
HGVS	NC_000012.11:g.112893752A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024260.18,