rs387907157

Orientation

plus

Stabilized

plus

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

Make rs387907157(C;T)

Make rs387907157(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112489092

Gene

PTPN11

is a	snp
is	mentioned by
dbSNP	rs387907157
dbSNP (classic)	rs387907157
ClinGen	rs387907157
ebi	rs387907157
HLI	rs387907157
Exac	rs387907157
Gnomad	rs387907157
Varsome	rs387907157
LitVar	rs387907157
Map	rs387907157
PheGenI	rs387907157
Biobank	rs387907157
1000 genomes	rs387907157
hgdp	rs387907157
ensembl	rs387907157
geneview	rs387907157
scholar	rs387907157
google	rs387907157
pharmgkb	rs387907157
gwascentral	rs387907157
openSNP	rs387907157
23andMe	rs387907157
SNPshot	rs387907157
SNPdbe	rs387907157
MSV3d	rs387907157
GWAS Ctlg	rs387907157

Max Magnitude

0

ClinVar
Risk	rs387907157(T;T)
Alt	rs387907157(T;T)
Reference	Rs387907157(C;C)
Significance	Pathogenic
Disease	Metachondromatosis
Variation	info
Gene	PTPN11
CLNDBN	Metachondromatosis
Reversed	0
HGVS	NC_000012.11:g.112926896C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024258.25,