rs267606990

Orientation

plus

Stabilized

plus

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

Make rs267606990(C;T)

Make rs267606990(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

112419116

Gene	PTPN11, RPL6

is a	snp
is	mentioned by
dbSNP	rs267606990
dbSNP (classic)	rs267606990
ClinGen	rs267606990
ebi	rs267606990
HLI	rs267606990
Exac	rs267606990
Gnomad	rs267606990
Varsome	rs267606990
LitVar	rs267606990
Map	rs267606990
PheGenI	rs267606990
Biobank	rs267606990
1000 genomes	rs267606990
hgdp	rs267606990
ensembl	rs267606990
geneview	rs267606990
scholar	rs267606990
google	rs267606990
pharmgkb	rs267606990
gwascentral	rs267606990
openSNP	rs267606990
23andMe	rs267606990
SNPshot	rs267606990
SNPdbe	rs267606990
MSV3d	rs267606990
GWAS Ctlg	rs267606990

Max Magnitude

0

ClinVar
Risk	rs267606990(T;T)
Alt	rs267606990(T;T)
Reference	Rs267606990(C;C)
Significance	Pathogenic
Disease	Noonan syndrome 1 not provided Noonan syndrome
Variation	info
Gene	RPL6 PTPN11
CLNDBN	Noonan syndrome 1 not provided Noonan syndrome
Reversed	0
HGVS	NC_000012.11:g.112856920C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014277.5, RCV000033445.2, RCV000211847.1,