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rs267606990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606990(C;T)
Make rs267606990(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112419116
GenePTPN11
is asnp
is mentioned by
dbSNPrs267606990
ebirs267606990
HLIrs267606990
Exacrs267606990
Varsomers267606990
Maprs267606990
PheGenIrs267606990
hapmaprs267606990
1000 genomesrs267606990
hgdprs267606990
ensemblrs267606990
gopubmedrs267606990
geneviewrs267606990
scholarrs267606990
googlers267606990
pharmgkbrs267606990
gwascentralrs267606990
openSNPrs267606990
23andMers267606990
23andMe allrs267606990
SNP Nexus

SNPshotrs267606990
SNPdbers267606990
MSV3drs267606990
GWAS Ctlgrs267606990
Max Magnitude0
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
CLNACC RCV000014277.5, RCV000033445.2, RCV000211847.1,