Have questions? Visit https://www.reddit.com/r/SNPedia

rs376607329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376607329(A;A)
Make rs376607329(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112472981
GenePTPN11
is asnp
is mentioned by
dbSNPrs376607329
ebirs376607329
HLIrs376607329
Exacrs376607329
Varsomers376607329
Maprs376607329
PheGenIrs376607329
hapmaprs376607329
1000 genomesrs376607329
hgdprs376607329
ensemblrs376607329
gopubmedrs376607329
geneviewrs376607329
scholarrs376607329
googlers376607329
pharmgkbrs376607329
gwascentralrs376607329
openSNPrs376607329
23andMers376607329
23andMe allrs376607329
SNP Nexus

SNPshotrs376607329
SNPdbers376607329
MSV3drs376607329
GWAS Ctlgrs376607329
Max Magnitude0
ClinVar
Risk rs376607329(A;A)
Alt rs376607329(A;A)
Reference rs376607329(G;G)
Significance Pathogenic
Disease Rasopathy Noonan syndrome not provided Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome not provided Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112910785G>A
CLNSRC University Hospital of Geneva
CLNACC RCV000033501.3, RCV000037658.3, RCV000153788.4, RCV000234910.1,