rs398122859

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar
(TC;TC)	0	common in clinvar

Make rs398122859(-;-)

Make rs398122859(-;CT)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112453215

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs398122859
dbSNP (classic)	rs398122859
ClinGen	rs398122859
ebi	rs398122859
HLI	rs398122859
Exac	rs398122859
Gnomad	rs398122859
Varsome	rs398122859
LitVar	rs398122859
Map	rs398122859
PheGenI	rs398122859
Biobank	rs398122859
1000 genomes	rs398122859
hgdp	rs398122859
ensembl	rs398122859
geneview	rs398122859
scholar	rs398122859
google	rs398122859
pharmgkb	rs398122859
gwascentral	rs398122859
openSNP	rs398122859
23andMe	rs398122859
SNPshot	rs398122859
SNPdbe	rs398122859
MSV3d	rs398122859
GWAS Ctlg	rs398122859

Max Magnitude

0

ClinVar
Risk	rs398122859(-;-)
Alt	rs398122859(-;-)
Reference	Rs398122859(TC;TC)
Significance	Pathogenic
Disease	Metachondromatosis
Variation	info
Gene	PTPN11
CLNDBN	Metachondromatosis
Reversed	0
HGVS	NC_000012.11:g.112891019_112891020delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024257.24,