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rs121918471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGT;GGT) 0 common in clinvar
Make rs121918471(-;-)
Make rs121918471(-;GGT)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450358
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918471
ebirs121918471
HLIrs121918471
Exacrs121918471
Varsomers121918471
Maprs121918471
PheGenIrs121918471
hapmaprs121918471
1000 genomesrs121918471
hgdprs121918471
ensemblrs121918471
gopubmedrs121918471
geneviewrs121918471
scholarrs121918471
googlers121918471
pharmgkbrs121918471
gwascentralrs121918471
openSNPrs121918471
23andMers121918471
23andMe allrs121918471
SNP Nexus

SNPshotrs121918471
SNPdbers121918471
MSV3drs121918471
GWAS Ctlgrs121918471
Max Magnitude0
OMIM176876
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121918471(;)
Alt rs121918471(;)
Reference rs121918471(GGT;GGT)
Significance Untested
Disease Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112888162_112888164delGGT
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000034523.1, SCV000034523.1, SCV000040936.1, SCV000040936.1,