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rs121913502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913502(A;A)
Make rs121913502(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position90088702
GeneIDH2
is asnp
is mentioned by
dbSNPrs121913502
dbSNP (classic)rs121913502
ClinGenrs121913502
ebirs121913502
HLIrs121913502
Exacrs121913502
Gnomadrs121913502
Varsomers121913502
LitVarrs121913502
Maprs121913502
PheGenIrs121913502
Biobankrs121913502
1000 genomesrs121913502
hgdprs121913502
ensemblrs121913502
geneviewrs121913502
scholarrs121913502
googlers121913502
pharmgkbrs121913502
gwascentralrs121913502
openSNPrs121913502
23andMers121913502
SNPshotrs121913502
SNPdbers121913502
MSV3drs121913502
GWAS Ctlgrs121913502
Max Magnitude0
ClinVar
Risk rs121913502(A;A) rs121913502(T;T)
Alt rs121913502(A;A) rs121913502(T;T)
Reference Rs121913502(G;G)
Significance Pathogenic
Disease Myelodysplastic syndrome Acute myeloid leukemia Squamous cell carcinoma of the head and neck Multiple myeloma Colorectal Neoplasms D-2-hydroxyglutaric aciduria 2 not provided
Variation info
Gene IDH2
CLNDBN Myelodysplastic syndrome Acute myeloid leukemia Squamous cell carcinoma of the head and neck Multiple myeloma Colorectal Neoplasms D-2-hydroxyglutaric aciduria 2 not provided
Reversed 1
HGVS NC_000015.9:g.90631934C>A; NC_000015.9:g.90631934C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000419881.1, RCV000424921.1, RCV000426646.1, RCV000435643.1, RCV000436884.1, RCV000015831.26, RCV000292094.1, RCV000419192.1, RCV000420290.1, RCV000430530.1, RCV000431189.1, RCV000441454.1,