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

rs397507505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397507505(A;C)
Make rs397507505(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450352
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507505
ebirs397507505
HLIrs397507505
Exacrs397507505
Varsomers397507505
Maprs397507505
PheGenIrs397507505
hapmaprs397507505
1000 genomesrs397507505
hgdprs397507505
ensemblrs397507505
gopubmedrs397507505
geneviewrs397507505
scholarrs397507505
googlers397507505
pharmgkbrs397507505
gwascentralrs397507505
openSNPrs397507505
23andMers397507505
23andMe allrs397507505
SNP Nexus

SNPshotrs397507505
SNPdbers397507505
MSV3drs397507505
GWAS Ctlgrs397507505
Max Magnitude0
ClinVar
Risk rs397507505(C,G,T;C,G,T)
Alt rs397507505(C,G,T;C,G,T)
Reference rs397507505(A;A)
Significance Pathogenic
Disease Rasopathy Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112888156A>C; NC_000012.11:g.112888156A>G; NC_000012.11:g.112888156A>T
CLNSRC ClinVar
CLNACC RCV000033454.4, RCV000037626.3, RCV000157676.1, RCV000033455.5, RCV000037627.2, RCV000234028.1, RCV000159042.1,