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rs397507508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTGA;GTGA) 0 common in clinvar
Make rs397507508(GTGA;T)
Make rs397507508(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450359
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507508
dbSNP (classic)rs397507508
ClinGenrs397507508
ebirs397507508
HLIrs397507508
Exacrs397507508
Gnomadrs397507508
Varsomers397507508
LitVarrs397507508
Maprs397507508
PheGenIrs397507508
Biobankrs397507508
1000 genomesrs397507508
hgdprs397507508
ensemblrs397507508
geneviewrs397507508
scholarrs397507508
googlers397507508
pharmgkbrs397507508
gwascentralrs397507508
openSNPrs397507508
23andMers397507508
SNPshotrs397507508
SNPdbers397507508
MSV3drs397507508
GWAS Ctlgrs397507508
Max Magnitude0
ClinVar
Risk rs397507508(T;T)
Alt rs397507508(T;T)
Reference Rs397507508(GTGA;GTGA)
Significance Pathogenic
Disease Rasopathy
Variation info
Gene PTPN11
CLNDBN Rasopathy
Reversed 0
HGVS NC_000012.11:g.112888163_112888166delGTGAinsT
CLNSRC ClinVar
CLNACC RCV000033460.2,