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rs397507550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 7 Noonan syndrome
(G;G) 0 common in clinvar


Make rs397507550(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489106
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507550
dbSNP (classic)rs397507550
ClinGenrs397507550
ebirs397507550
HLIrs397507550
Exacrs397507550
Gnomadrs397507550
Varsomers397507550
LitVarrs397507550
Maprs397507550
PheGenIrs397507550
Biobankrs397507550
1000 genomesrs397507550
hgdprs397507550
ensemblrs397507550
geneviewrs397507550
scholarrs397507550
googlers397507550
pharmgkbrs397507550
gwascentralrs397507550
openSNPrs397507550
23andMers397507550
SNPshotrs397507550
SNPdbers397507550
MSV3drs397507550
GWAS Ctlgrs397507550
Max Magnitude7

aka c.1530G>C (p.Gln510His)

ClinVar
Risk rs397507550(C;C)
Alt rs397507550(C;C)
Reference Rs397507550(G;G)
Significance Other
Disease not provided LEOPARD syndrome 1
Variation info
Gene PTPN11
CLNDBN not provided LEOPARD syndrome 1
Reversed 0
HGVS NC_000012.11:g.112926910G>C
CLNSRC HGMD
CLNACC RCV000077854.5, RCV000335307.1,