Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913529
rs121913529
CUI: C0026499
Disease: Monosomy
Monosomy
0.010 GeneticVariation BEFREE We report on an infant with JMML with somatic KRAS G12A mutation and monosomy 7 who achieved sustained remission following azacitidine monotherapy. 31250550

2019

dbSNP: rs121913529
rs121913529
CUI: C0030215
Disease: Palatal Neoplasms
Palatal Neoplasms
0.010 GeneticVariation BEFREE Furthermore, an additional examination demonstrated an oncogenic KRAS mutation at codon 12 (p.G12D) in both palate tumor and in pleural effusion. 30634950

2019

dbSNP: rs121913529
rs121913529
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE KRAS G12D point mutation plays an important role in the incidence of non-small-cell lung cancer (NSCLC) as well as colorectal cancer, pancreatic cancer and breast cancer. 30876538

2019

dbSNP: rs121913529
rs121913529
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE KRAS G12D point mutation plays an important role in the incidence of non-small-cell lung cancer (NSCLC) as well as colorectal cancer, pancreatic cancer and breast cancer. 30876538

2019

dbSNP: rs121913529
rs121913529
CUI: C0334565
Disease: Adenoameloblastoma
Adenoameloblastoma
0.010 GeneticVariation BEFREE Although it is unclear why different codon 12 alleles occur in different disease contexts and the complex interactions between tumor genotype and phenotype need clarification, on the basis of our results the presence of KRAS p.G12V/R favors the adenomatoid odontogenic tumor diagnosis in challenging oral neoplasm cases. 30643167

2019

dbSNP: rs121913529
rs121913529
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.010 GeneticVariation BEFREE In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. 30891959

2019

dbSNP: rs121913529
rs121913529
CUI: C0278479
Disease: Stage II Colon Cancer
Stage II Colon Cancer
0.010 GeneticVariation BEFREE In one case of mutant stage II colon cancer (KRAS-G12C), the G12D variant was detected in cfDNA instead. 31134762

2019

dbSNP: rs121913529
rs121913529
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7
0.010 GeneticVariation BEFREE In one case of mutant stage II colon cancer (KRAS-G12C), the G12D variant was detected in cfDNA instead. 31134762

2019

dbSNP: rs121913529
rs121913529
CUI: C4525119
Disease: Stage II Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8
0.010 GeneticVariation BEFREE In one case of mutant stage II colon cancer (KRAS-G12C), the G12D variant was detected in cfDNA instead. 31134762

2019

dbSNP: rs121913529
rs121913529
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 GeneticVariation BEFREE With hepatitis B virus double mutation (HBVDM) and KRAS G12V point mutation as model double mutations, it is shown that PEPS was able to detect double-stranded HBVDM and KRAS with 70% detection efficiency or better at concentration as low as 10<sup>-19</sup> M against single-stranded mutation detection at the same concentrations, which was validated by the following in situ fluorescent reporter microspheres (FRMs) detection as well as microscopic visualization of the FRMs bound to the captured mutant on the PEPS surface. 30142581

2018

dbSNP: rs121913529
rs121913529
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. 30353028

2018

dbSNP: rs121913529
rs121913529
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.010 GeneticVariation BEFREE A KRAS G12V mutation was detected in the plasma of 1 patient with stage IVA papillary carcinoma whose tissue contained the same mutation. 29498908

2018

dbSNP: rs121913529
rs121913529
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Furthermore, EGF‑ETA was just as potent in HCT116 (KRAS G13D) and SW480 (KRAS G12V) colon cancer cell lines harbouring KRAS hyperactivating mutations when compared to KRAS wild‑type HT29 colon cancer cells. 30226622

2018

dbSNP: rs121913529
rs121913529
CUI: C0334279
Disease: Adenocarcinoma, intestinal type
Adenocarcinoma, intestinal type
0.010 GeneticVariation BEFREE The genetic analysis showed that only 1 sinonasal ITAC (1/7) showed KRAS c.35G>C, p.(Gly12Ala) mutation, whereas BRAF and NRAS genes were wild type. 27258560

2018

dbSNP: rs121913529
rs121913529
Childhood Embryonal Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. 30353028

2018

dbSNP: rs121913529
rs121913529
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414

2017

dbSNP: rs121913529
rs121913529
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a low-level heterozygous mutation of the KRAS gene (c.35C > T; p.G12D, 19%) in the skin lesion sample. 29381910

2017

dbSNP: rs121913529
rs121913529
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414

2017

dbSNP: rs121913529
rs121913529
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 GeneticVariation BEFREE Mice harboring a G12D activating Kras mutation are among the most heavily studied models in the field of pancreatic adenocarcinoma (PDAC) research. miRNAs are differentially expressed in PDAC from patients and mouse models of PDAC. 27541609

2017

dbSNP: rs121913529
rs121913529
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 GeneticVariation BEFREE Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype"). 28446242

2017

dbSNP: rs121913529
rs121913529
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 GeneticVariation BEFREE These results demonstrated the validity of the G22Cre; Apc(flox/flox) ;Kras (G12D) mice as a new mouse model with oncogenic Kras activation. 26361962

2016

dbSNP: rs121913529
rs121913529
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm
0.010 GeneticVariation BEFREE GTPase-impairing somatic mutations in RAS genes, such as KRAS(G12D), are among the most common oncogenic events in metastatic cancer. 26549032

2016

dbSNP: rs121913529
rs121913529
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 GeneticVariation BEFREE KRAS(G12D) T-ALLs do not show constitutive GTP loading of Ras. 26549032

2016

dbSNP: rs121913529
rs121913529
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804

2016

dbSNP: rs121913529
rs121913529
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804

2016