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rs121913500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913500(A;A)
Make rs121913500(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position208248388
GeneIDH1
is asnp
is mentioned by
dbSNPrs121913500
ClinGenrs121913500
ebirs121913500
HLIrs121913500
Exacrs121913500
Varsomers121913500
Maprs121913500
PheGenIrs121913500
hapmaprs121913500
1000 genomesrs121913500
hgdprs121913500
ensemblrs121913500
gopubmedrs121913500
geneviewrs121913500
scholarrs121913500
googlers121913500
pharmgkbrs121913500
gwascentralrs121913500
openSNPrs121913500
23andMers121913500
23andMe allrs121913500
SNP Nexus

SNPshotrs121913500
SNPdbers121913500
MSV3drs121913500
GWAS Ctlgrs121913500
Max Magnitude0
ClinVar
Risk rs121913500(A;A) rs121913500(C;C) rs121913500(T;T)
Alt rs121913500(A;A) rs121913500(C;C) rs121913500(T;T)
Reference Rs121913500(G;G)
Significance Pathogenic
Disease Myelodysplastic syndrome Colorectal Neoplasms Acute myeloid leukemia Transitional cell carcinoma of the bladder Medulloblastoma Glioblastoma Malignant melanoma of skin Adenocarcinoma of lung Neoplasm of brain Adenocarcinoma of prostate Multiple myeloma Neoplasm of breast Brainstem glioma Hepatocellular carcinoma Adenoid cystic carcinoma Glioblastoma multiforme Oligodendroglioma Astrocytoma
Variation info
Gene IDH1
CLNDBN Myelodysplastic syndrome Colorectal Neoplasms Acute myeloid leukemia Transitional cell carcinoma of the bladder Medulloblastoma Glioblastoma Malignant melanoma of skin Adenocarcinoma of lung Neoplasm of brain Adenocarcinoma of prostate Multiple myeloma Neoplasm of breast Brainstem glioma Hepatocellular carcinoma Adenoid cystic carcinoma Glioblastoma multiforme, somatic Oligodendroglioma Astrocytoma
Reversed 1
HGVS NC_000002.11:g.209113112C>A; NC_000002.11:g.209113112C>G; NC_000002.11:g.209113112C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000418043.1, RCV000423104.1, RCV000424309.1, RCV000424554.1, RCV000425224.1, RCV000425475.1, RCV000430835.1, RCV000432682.1, RCV000433285.1, RCV000433807.1, RCV000435256.1, RCV000440464.1, RCV000441571.1, RCV000442225.1, RCV000445003.1, RCV000437616.1, RCV000144504.3, RCV000419255.1, RCV000420454.1, RCV000421389.1, RCV000422344.1, RCV000423229.1, RCV000423408.1, RCV000427239.1, RCV000428884.1, RCV000429987.1, RCV000431117.1, RCV000432047.1, RCV000433068.1, RCV000439554.1, RCV000440637.1, RCV000441845.1, RCV000442517.1, RCV000445280.1,