dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs121913529
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr12:25245350 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000013 (2/149178, GnomAD_genomes)T=0.000010 (1/101828, ALFA)T=0.000020 (2/101204, ExAC) (+ 3 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- KRAS : Missense Variant
- Publications
- 50 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 101828 | C=0.999990 | T=0.000010 | 0.99998 | 0.0 | 2e-05 | 0 |
| European | Sub | 90742 | C=1.00000 | T=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 4106 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 162 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 3944 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 3304 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 2680 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 624 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 436 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 928 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 276 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 2036 | C=0.9995 | T=0.0005 | 0.999018 | 0.0 | 0.000982 | 0 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD v4 - Genomes | Global | Study-wide | 149178 | C=0.999987 | T=0.000013 |
| gnomAD v4 - Genomes | European | Sub | 78638 | C=0.99997 | T=0.00003 |
| gnomAD v4 - Genomes | African | Sub | 41438 | C=1.00000 | T=0.00000 |
| gnomAD v4 - Genomes | American | Sub | 15286 | C=1.00000 | T=0.00000 |
| gnomAD v4 - Genomes | East Asian | Sub | 5202 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4828 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 316 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Total | Global | 101828 | C=0.999990 | T=0.000010 |
| Allele Frequency Aggregator | European | Sub | 90742 | C=1.00000 | T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 4106 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 3304 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 2036 | C=0.9995 | T=0.0005 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 928 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 436 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 276 | C=1.000 | T=0.000 |
| ExAC | Global | Study-wide | 101204 | C=0.999980 | T=0.000020 |
| ExAC | Europe | Sub | 59226 | C=0.99998 | T=0.00002 |
| ExAC | Asian | Sub | 22050 | C=1.00000 | T=0.00000 |
| ExAC | American | Sub | 10162 | C=1.00000 | T=0.00000 |
| ExAC | African | Sub | 8994 | C=0.9999 | T=0.0001 |
| ExAC | Other | Sub | 772 | C=1.000 | T=0.000 |
| The PAGE Study | Global | Study-wide | 78702 | C=0.99999 | T=0.00001 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=1.00000 | T=0.00000 |
| The PAGE Study | Mexican | Sub | 10810 | C=1.00000 | T=0.00000 |
| The PAGE Study | Asian | Sub | 8318 | C=1.0000 | T=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=1.0000 | T=0.0000 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=1.0000 | T=0.0000 |
| The PAGE Study | Cuban | Sub | 4230 | C=1.0000 | T=0.0000 |
| The PAGE Study | Dominican | Sub | 3828 | C=1.0000 | T=0.0000 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=1.0000 | T=0.0000 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=1.0000 | T=0.0000 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=1.0000 | T=0.0000 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.999 | T=0.001 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3274 | C=0.9976 | T=0.0024 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3274 | C=0.9976 | T=0.0024 |
| Qatari | Global | Study-wide | 216 | C=0.995 | A=0.005 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.25245350C>A |
| GRCh38.p14 chr 12 | NC_000012.12:g.25245350C>G |
| GRCh38.p14 chr 12 | NC_000012.12:g.25245350C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.25398284C>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.25398284C>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.25398284C>T |
| KRAS RefSeqGene (LRG_344) | NG_007524.2:g.10654G>T |
| KRAS RefSeqGene (LRG_344) | NG_007524.2:g.10654G>C |
| KRAS RefSeqGene (LRG_344) | NG_007524.2:g.10654G>A |
Gene: KRAS, KRAS proto-oncogene, GTPase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| KRAS transcript variant b | NM_004985.5:c.35G>T | G [GGT] > V [GTT] | Coding Sequence Variant |
| GTPase KRas isoform b | NP_004976.2:p.Gly12Val | G (Gly) > V (Val) | Missense Variant |
| KRAS transcript variant b | NM_004985.5:c.35G>C | G [GGT] > A [GCT] | Coding Sequence Variant |
| GTPase KRas isoform b | NP_004976.2:p.Gly12Ala | G (Gly) > A (Ala) | Missense Variant |
| KRAS transcript variant b | NM_004985.5:c.35G>A | G [GGT] > D [GAT] | Coding Sequence Variant |
| GTPase KRas isoform b | NP_004976.2:p.Gly12Asp | G (Gly) > D (Asp) | Missense Variant |
| KRAS transcript variant a | NM_033360.4:c.35G>T | G [GGT] > V [GTT] | Coding Sequence Variant |
| GTPase KRas isoform a | NP_203524.1:p.Gly12Val | G (Gly) > V (Val) | Missense Variant |
| KRAS transcript variant a | NM_033360.4:c.35G>C | G [GGT] > A [GCT] | Coding Sequence Variant |
| GTPase KRas isoform a | NP_203524.1:p.Gly12Ala | G (Gly) > A (Ala) | Missense Variant |
| KRAS transcript variant a | NM_033360.4:c.35G>A | G [GGT] > D [GAT] | Coding Sequence Variant |
| GTPase KRas isoform a | NP_203524.1:p.Gly12Asp | G (Gly) > D (Asp) | Missense Variant |
| KRAS transcript variant d | NM_001369787.1:c.35G>T | G [GGT] > V [GTT] | Coding Sequence Variant |
| GTPase KRas isoform b | NP_001356716.1:p.Gly12Val | G (Gly) > V (Val) | Missense Variant |
| KRAS transcript variant d | NM_001369787.1:c.35G>C | G [GGT] > A [GCT] | Coding Sequence Variant |
| GTPase KRas isoform b | NP_001356716.1:p.Gly12Ala | G (Gly) > A (Ala) | Missense Variant |
| KRAS transcript variant d | NM_001369787.1:c.35G>A | G [GGT] > D [GAT] | Coding Sequence Variant |
| GTPase KRas isoform b | NP_001356716.1:p.Gly12Asp | G (Gly) > D (Asp) | Missense Variant |
| KRAS transcript variant c | NM_001369786.1:c.35G>T | G [GGT] > V [GTT] | Coding Sequence Variant |
| GTPase KRas isoform a | NP_001356715.1:p.Gly12Val | G (Gly) > V (Val) | Missense Variant |
| KRAS transcript variant c | NM_001369786.1:c.35G>C | G [GGT] > A [GCT] | Coding Sequence Variant |
| GTPase KRas isoform a | NP_001356715.1:p.Gly12Ala | G (Gly) > A (Ala) | Missense Variant |
| KRAS transcript variant c | NM_001369786.1:c.35G>A | G [GGT] > D [GAT] | Coding Sequence Variant |
| GTPase KRas isoform a | NP_001356715.1:p.Gly12Asp | G (Gly) > D (Asp) | Missense Variant |
| KRAS transcript variant X1 | XM_047428826.1:c.35G>T | G [GGT] > V [GTT] | Coding Sequence Variant |
| GTPase KRas isoform X1 | XP_047284782.1:p.Gly12Val | G (Gly) > V (Val) | Missense Variant |
| KRAS transcript variant X1 | XM_047428826.1:c.35G>C | G [GGT] > A [GCT] | Coding Sequence Variant |
| GTPase KRas isoform X1 | XP_047284782.1:p.Gly12Ala | G (Gly) > A (Ala) | Missense Variant |
| KRAS transcript variant X1 | XM_047428826.1:c.35G>A | G [GGT] > D [GAT] | Coding Sequence Variant |
| GTPase KRas isoform X1 | XP_047284782.1:p.Gly12Asp | G (Gly) > D (Asp) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
27622
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000013413.7 | Carcinoma of pancreas | Pathogenic |
| RCV000029216.7 | Nevus sebaceous | Pathogenic |
| RCV000150895.6 | Juvenile myelomonocytic leukemia | Pathogenic |
| RCV000154262.8 | Non-small cell lung carcinoma | Pathogenic |
| RCV000157944.23 | not provided | Pathogenic |
| RCV000417765.3 | Thyroid tumor | Pathogenic |
| RCV000428010.3 | Ovarian neoplasm | Pathogenic |
| RCV000439101.3 | Neoplasm of the large intestine | Pathogenic |
| RCV000439750.3 | Acute myeloid leukemia | Likely-Pathogenic |
| RCV000585801.4 | Cerebral arteriovenous malformation | Pathogenic |
| RCV002291496.3 | Chronic myelogenous leukemia, BCR-ABL1 positive | Pathogenic |
| RCV003322589.2 | Lung sarcomatoid carcinoma | Pathogenic |
| RCV003455987.2 | Linear nevus sebaceous syndrome | Pathogenic |
| RCV003539760.1 | RASopathy | Pathogenic |
Allele: G (allele ID:
54289
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000038266.7 | Non-small cell lung carcinoma | Pathogenic |
| RCV000423968.2 | Lung adenocarcinoma | Not-Provided |
| RCV000434342.2 | Neoplasm of the large intestine | Pathogenic |
| RCV000441134.2 | Gastrointestinal stromal tumor | Likely-Pathogenic |
| RCV000443636.2 | Ovarian neoplasm | Pathogenic |
| RCV000984117.2 | Multiple myeloma | Pathogenic |
| RCV001355876.3 | not provided | Pathogenic |
| RCV001374446.2 | Gallbladder cancer | Pathogenic |
| RCV003996396.1 | Lung cancer | Likely-Pathogenic |
| RCV004549454.2 | KRAS-related disorder | Likely-Pathogenic |
Allele: T (allele ID:
27621
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000013411.18 | Carcinoma of pancreas | Pathogenic |
| RCV000022799.16 | Epidermal nevus | Pathogenic |
| RCV000029214.16 | Nevus sebaceous | Pathogenic |
| RCV000029215.19 | Linear nevus sebaceous syndrome | Pathogenic |
| RCV000144969.19 | Juvenile myelomonocytic leukemia | Pathogenic |
| RCV000144970.14 | Autoimmune lymphoproliferative syndrome type 4 | Pathogenic |
| RCV000150896.14 | Non-small cell lung carcinoma | Pathogenic |
| RCV000150897.14 | Ovarian neoplasm | Pathogenic |
| RCV000272938.23 | not provided | Pathogenic |
| RCV000425250.9 | Lung carcinoma | Likely-Pathogenic |
| RCV000426369.9 | Neoplasm of the large intestine | Pathogenic |
| RCV000433573.10 | Acute myeloid leukemia | Pathogenic-Likely-Pathogenic |
| RCV000443973.9 | Thyroid tumor | Pathogenic |
| RCV000548006.11 | RASopathy | Pathogenic |
| RCV000585796.11 | Cerebral arteriovenous malformation | Pathogenic |
| RCV000662266.9 | Vascular Tumors Including Pyogenic Granuloma | Likely-Pathogenic |
| RCV000856666.9 | Primary low grade serous adenocarcinoma of ovary | Pathogenic |
| RCV001799604.9 | Capillary malformation-arteriovenous malformation 1 | Pathogenic |
| RCV001839445.10 | Encephalocraniocutaneous lipomatosis | Not-Provided |
| RCV002508117.8 | Gastric cancer | Pathogenic |
| RCV003327361.5 | Atypical endometrial hyperplasia,Endometrial hyperplasia without atypia | Association |
| RCV004018620.1 | Cardiovascular phenotype | Likely-Pathogenic |
| RCV004554600.1 | Congenital Pulmonary Airway Malformations | Pathogenic |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.25245350= | NC_000012.12:g.25245350C>A | NC_000012.12:g.25245350C>G | NC_000012.12:g.25245350C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.25398284= | NC_000012.11:g.25398284C>A | NC_000012.11:g.25398284C>G | NC_000012.11:g.25398284C>T |
| KRAS RefSeqGene (LRG_344) | NG_007524.2:g.10654= | NG_007524.2:g.10654G>T | NG_007524.2:g.10654G>C | NG_007524.2:g.10654G>A |
| KRAS transcript variant b | NM_004985.5:c.35= | NM_004985.5:c.35G>T | NM_004985.5:c.35G>C | NM_004985.5:c.35G>A |
| KRAS transcript variant b | NM_004985.4:c.35= | NM_004985.4:c.35G>T | NM_004985.4:c.35G>C | NM_004985.4:c.35G>A |
| KRAS transcript variant b | NM_004985.3:c.35= | NM_004985.3:c.35G>T | NM_004985.3:c.35G>C | NM_004985.3:c.35G>A |
| KRAS transcript variant a | NM_033360.4:c.35= | NM_033360.4:c.35G>T | NM_033360.4:c.35G>C | NM_033360.4:c.35G>A |
| KRAS transcript variant a | NM_033360.3:c.35= | NM_033360.3:c.35G>T | NM_033360.3:c.35G>C | NM_033360.3:c.35G>A |
| KRAS transcript variant a | NM_033360.2:c.35= | NM_033360.2:c.35G>T | NM_033360.2:c.35G>C | NM_033360.2:c.35G>A |
| KRAS transcript variant c | NM_001369786.1:c.35= | NM_001369786.1:c.35G>T | NM_001369786.1:c.35G>C | NM_001369786.1:c.35G>A |
| KRAS transcript variant d | NM_001369787.1:c.35= | NM_001369787.1:c.35G>T | NM_001369787.1:c.35G>C | NM_001369787.1:c.35G>A |
| KRAS transcript variant X1 | XM_047428826.1:c.35= | XM_047428826.1:c.35G>T | XM_047428826.1:c.35G>C | XM_047428826.1:c.35G>A |
| GTPase KRas isoform b | NP_004976.2:p.Gly12= | NP_004976.2:p.Gly12Val | NP_004976.2:p.Gly12Ala | NP_004976.2:p.Gly12Asp |
| GTPase KRas isoform a | NP_203524.1:p.Gly12= | NP_203524.1:p.Gly12Val | NP_203524.1:p.Gly12Ala | NP_203524.1:p.Gly12Asp |
| GTPase KRas isoform a | NP_001356715.1:p.Gly12= | NP_001356715.1:p.Gly12Val | NP_001356715.1:p.Gly12Ala | NP_001356715.1:p.Gly12Asp |
| GTPase KRas isoform b | NP_001356716.1:p.Gly12= | NP_001356716.1:p.Gly12Val | NP_001356716.1:p.Gly12Ala | NP_001356716.1:p.Gly12Asp |
| GTPase KRas isoform X1 | XP_047284782.1:p.Gly12= | XP_047284782.1:p.Gly12Val | XP_047284782.1:p.Gly12Ala | XP_047284782.1:p.Gly12Asp |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
51 SubSNP,
9 Frequency,
47 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | DF-BWCC | ss275515413 | Nov 22, 2010 (133) |
| 2 | DF-BWCC | ss275515415 | Nov 22, 2010 (133) |
| 3 | DF-BWCC | ss275515418 | Nov 22, 2010 (133) |
| 4 | PJP | ss291403678 | May 09, 2011 (134) |
| 5 | OMIM-CURATED-RECORDS | ss475875727 | Dec 08, 2011 (136) |
| 6 | OMIM-CURATED-RECORDS | ss475875728 | Dec 08, 2011 (136) |
| 7 | NCBI-CURATED-RECORDS | ss537713814 | Jan 04, 2013 (137) |
| 8 | NCBI-CURATED-RECORDS | ss537713815 | Jan 04, 2013 (137) |
| 9 | EVA_EXAC | ss1690828969 | Apr 01, 2015 (144) |
| 10 | WEILL_CORNELL_DGM | ss1932710888 | Feb 12, 2016 (147) |
| 11 | ILLUMINA | ss1946334382 | Feb 12, 2016 (147) |
| 12 | ILLUMINA | ss1959422055 | Feb 12, 2016 (147) |
| 13 | HUMAN_LONGEVITY | ss2188613449 | Dec 20, 2016 (150) |
| 14 | GNOMAD | ss2739690345 | Nov 08, 2017 (151) |
| 15 | AFFY | ss2984970755 | Nov 08, 2017 (151) |
| 16 | ILLUMINA | ss3021415884 | Nov 08, 2017 (151) |
| 17 | ILLUMINA | ss3625618444 | Oct 12, 2018 (152) |
| 18 | ILLUMINA | ss3644587339 | Oct 12, 2018 (152) |
| 19 | ILLUMINA | ss3651790253 | Oct 12, 2018 (152) |
| 20 | ILLUMINA | ss3653743381 | Oct 12, 2018 (152) |
| 21 | ILLUMINA | ss3725311942 | Jul 13, 2019 (153) |
| 22 | ILLUMINA | ss3744096888 | Jul 13, 2019 (153) |
| 23 | PAGE_CC | ss3771681230 | Jul 13, 2019 (153) |
| 24 | EVA | ss3984449811 | Apr 26, 2021 (155) |
| 25 | GNOMAD | ss6446343758 | Nov 04, 2024 (157) |
| 26 | GNOMAD | ss6446343759 | Nov 04, 2024 (157) |
| 27 | GNOMAD | ss6446343760 | Nov 04, 2024 (157) |
| 28 | GNOMAD | ss6904380661 | Nov 04, 2024 (157) |
| 29 | EVA | ss8141967502 | Nov 04, 2024 (157) |
| 30 | EVA | ss8314391662 | Nov 04, 2024 (157) |
| 31 | EVA | ss8316117401 | Nov 04, 2024 (157) |
| 32 | EVA | ss8316117402 | Nov 04, 2024 (157) |
| 33 | CSS-BFX | ss8442109698 | Nov 04, 2024 (157) |
| 34 | CSS-BFX | ss8442109699 | Nov 04, 2024 (157) |
| 35 | CSS-BFX | ss8442109700 | Nov 04, 2024 (157) |
| 36 | EVA | ss8512446344 | Nov 04, 2024 (157) |
| 37 | EVA | ss8623898441 | Nov 04, 2024 (157) |
| 38 | EVA | ss8623898442 | Nov 04, 2024 (157) |
| 39 | EVA | ss8623898443 | Nov 04, 2024 (157) |
| 40 | EVA | ss8799446777 | Nov 04, 2024 (157) |
| 41 | EVA | ss8847663989 | Nov 04, 2024 (157) |
| 42 | EVA | ss8936100292 | Nov 04, 2024 (157) |
| 43 | EVA | ss8944149327 | Nov 04, 2024 (157) |
| 44 | EVA | ss8981398226 | Nov 04, 2024 (157) |
| 45 | EVA | ss8981470287 | Nov 04, 2024 (157) |
| 46 | LTPD | ss8981625463 | Nov 04, 2024 (157) |
| 47 | EVA | ss8981755493 | Nov 04, 2024 (157) |
| 48 | EVA | ss8981755494 | Nov 04, 2024 (157) |
| 49 | EVA | ss8981755495 | Nov 04, 2024 (157) |
| 50 | EVA | ss8981755496 | Nov 04, 2024 (157) |
| 51 | EVA | ss8981755497 | Nov 04, 2024 (157) |
| 52 | ExAC | NC_000012.11 - 25398284 | Oct 12, 2018 (152) |
| 53 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 04, 2024 (157) |
| 54 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 04, 2024 (157) |
| 55 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 04, 2024 (157) |
| 56 | gnomAD v4 - Genomes | NC_000012.12 - 25245350 | Nov 04, 2024 (157) |
| 57 | The PAGE Study | NC_000012.12 - 25245350 | Jul 13, 2019 (153) |
| 58 | MxGDAR/Encodat-PGx | NC_000012.11 - 25398284 | Apr 26, 2021 (155) |
| 59 | Qatari | NC_000012.11 - 25398284 | Apr 26, 2020 (154) |
| 60 | ALFA | NC_000012.12 - 25245350 | Nov 04, 2024 (157) |
| 61 | ClinVar | RCV000013411.18 | Nov 04, 2024 (157) |
| 62 | ClinVar | RCV000013413.7 | Nov 04, 2024 (157) |
| 63 | ClinVar | RCV000022799.16 | Nov 04, 2024 (157) |
| 64 | ClinVar | RCV000029214.16 | Nov 04, 2024 (157) |
| 65 | ClinVar | RCV000029215.19 | Nov 04, 2024 (157) |
| 66 | ClinVar | RCV000029216.7 | Nov 04, 2024 (157) |
| 67 | ClinVar | RCV000038266.7 | Nov 04, 2024 (157) |
| 68 | ClinVar | RCV000144969.19 | Nov 04, 2024 (157) |
| 69 | ClinVar | RCV000144970.14 | Nov 04, 2024 (157) |
| 70 | ClinVar | RCV000150895.6 | Nov 04, 2024 (157) |
| 71 | ClinVar | RCV000150896.14 | Nov 04, 2024 (157) |
| 72 | ClinVar | RCV000150897.14 | Nov 04, 2024 (157) |
| 73 | ClinVar | RCV000154262.8 | Nov 04, 2024 (157) |
| 74 | ClinVar | RCV000157944.23 | Nov 04, 2024 (157) |
| 75 | ClinVar | RCV000272938.23 | Nov 04, 2024 (157) |
| 76 | ClinVar | RCV000417765.3 | Nov 04, 2024 (157) |
| 77 | ClinVar | RCV000423968.2 | Nov 04, 2024 (157) |
| 78 | ClinVar | RCV000425250.9 | Nov 04, 2024 (157) |
| 79 | ClinVar | RCV000426369.9 | Nov 04, 2024 (157) |
| 80 | ClinVar | RCV000428010.3 | Nov 04, 2024 (157) |
| 81 | ClinVar | RCV000433573.10 | Nov 04, 2024 (157) |
| 82 | ClinVar | RCV000434342.2 | Nov 04, 2024 (157) |
| 83 | ClinVar | RCV000439101.3 | Nov 04, 2024 (157) |
| 84 | ClinVar | RCV000439750.3 | Nov 04, 2024 (157) |
| 85 | ClinVar | RCV000441134.2 | Nov 04, 2024 (157) |
| 86 | ClinVar | RCV000443636.2 | Nov 04, 2024 (157) |
| 87 | ClinVar | RCV000443973.9 | Nov 04, 2024 (157) |
| 88 | ClinVar | RCV000548006.11 | Nov 04, 2024 (157) |
| 89 | ClinVar | RCV000585796.11 | Nov 04, 2024 (157) |
| 90 | ClinVar | RCV000585801.4 | Nov 04, 2024 (157) |
| 91 | ClinVar | RCV000662266.9 | Nov 04, 2024 (157) |
| 92 | ClinVar | RCV000856666.9 | Nov 04, 2024 (157) |
| 93 | ClinVar | RCV000984117.2 | Nov 04, 2024 (157) |
| 94 | ClinVar | RCV001355876.3 | Nov 04, 2024 (157) |
| 95 | ClinVar | RCV001374446.2 | Nov 04, 2024 (157) |
| 96 | ClinVar | RCV001799604.9 | Nov 04, 2024 (157) |
| 97 | ClinVar | RCV001839445.10 | Nov 04, 2024 (157) |
| 98 | ClinVar | RCV002291496.3 | Nov 04, 2024 (157) |
| 99 | ClinVar | RCV002508117.8 | Nov 04, 2024 (157) |
| 100 | ClinVar | RCV003322589.2 | Nov 04, 2024 (157) |
| 101 | ClinVar | RCV003327361.5 | Nov 04, 2024 (157) |
| 102 | ClinVar | RCV003455987.2 | Nov 04, 2024 (157) |
| 103 | ClinVar | RCV003539760.1 | Nov 04, 2024 (157) |
| 104 | ClinVar | RCV003996396.1 | Nov 04, 2024 (157) |
| 105 | ClinVar | RCV004018620.1 | Nov 04, 2024 (157) |
| 106 | ClinVar | RCV004549454.2 | Nov 04, 2024 (157) |
| 107 | ClinVar | RCV004554600.1 | Nov 04, 2024 (157) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs121913531 | May 06, 2011 (133) |
| rs121913534 | May 06, 2011 (133) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 14752818, ss1932710888, ss2739690345, ss8316117401, ss8442109698, ss8512446344, ss8623898441, ss8799446777, ss8936100292, ss8981398226, ss8981470287, ss8981755493, ss8981755495 | NC_000012.11:25398283:C:A | NC_000012.12:25245349:C:A | (self) |
| RCV000013413.7, RCV000029216.7, RCV000150895.6, RCV000154262.8, RCV000157944.23, RCV000417765.3, RCV000428010.3, RCV000439101.3, RCV000439750.3, RCV000585801.4, RCV002291496.3, RCV003322589.2, RCV003455987.2, RCV003539760.1, ss275515418, ss475875728, ss537713815, ss6446343758 | NC_000012.12:25245349:C:A | NC_000012.12:25245349:C:A | (self) |
| ss2739690345, ss8314391662, ss8442109699, ss8623898442, ss8936100292, ss8981470287, ss8981755496 | NC_000012.11:25398283:C:G | NC_000012.12:25245349:C:G | (self) |
| RCV000038266.7, RCV000423968.2, RCV000434342.2, RCV000441134.2, RCV000443636.2, RCV000984117.2, RCV001355876.3, RCV001374446.2, RCV003996396.1, RCV004549454.2, ss275515413, ss6446343759 | NC_000012.12:25245349:C:G | NC_000012.12:25245349:C:G | (self) |
| ss291403678 | NC_000012.10:25289550:C:T | NC_000012.12:25245349:C:T | (self) |
| 1119976, 2812, ss1690828969, ss1946334382, ss1959422055, ss2739690345, ss2984970755, ss3021415884, ss3625618444, ss3644587339, ss3651790253, ss3653743381, ss3744096888, ss3984449811, ss8316117402, ss8442109700, ss8512446344, ss8623898443, ss8847663989, ss8936100292, ss8944149327, ss8981470287, ss8981625463, ss8981755494, ss8981755497 | NC_000012.11:25398283:C:T | NC_000012.12:25245349:C:T | (self) |
| RCV000013411.18, RCV000022799.16, RCV000029214.16, RCV000029215.19, RCV000144969.19, RCV000144970.14, RCV000150896.14, RCV000150897.14, RCV000272938.23, RCV000425250.9, RCV000426369.9, RCV000433573.10, RCV000443973.9, RCV000548006.11, RCV000585796.11, RCV000662266.9, RCV000856666.9, RCV001799604.9, RCV001839445.10, RCV002508117.8, RCV003327361.5, RCV004018620.1, RCV004554600.1, 431627446, 902699, 2951360936, ss275515415, ss475875727, ss537713814, ss2188613449, ss3725311942, ss3771681230, ss6446343760, ss6904380661, ss8141967502 | NC_000012.12:25245349:C:T | NC_000012.12:25245349:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
50
citations for rs121913529
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 2278970 | RAS gene mutations in childhood acute myeloid leukemia: a Pediatric Oncology Group study. | Vogelstein B et al. | 1990 | Genes, chromosomes & cancer |
| 3122217 | RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. | Janssen JW et al. | 1987 | Proceedings of the National Academy of Sciences of the United States of America |
| 7773929 | Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. | Lee KH et al. | 1995 | Cancer |
| 8439212 | Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. | Motojima K et al. | 1993 | Annals of surgery |
| 12460918 | BRAF and RAS mutations in human lung cancer and melanoma. | Brose MS et al. | 2002 | Cancer research |
| 15696205 | KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. | Pao W et al. | 2005 | PLoS medicine |
| 15842656 | Somatic PTPN11 mutations in childhood acute myeloid leukaemia. | Tartaglia M et al. | 2005 | British journal of haematology |
| 16361624 | Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma. | Rothenberg ML et al. | 2005 | Journal of clinical oncology |
| 16434492 | Implications of NRAS mutations in AML: a study of 2502 patients. | Bacher U et al. | 2006 | Blood |
| 16618717 | KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. | Lièvre A et al. | 2006 | Cancer research |
| 17332249 | Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | Matsuda K et al. | 2007 | Blood |
| 17384584 | Hyperactive Ras in developmental disorders and cancer. | Schubbert S et al. | 2007 | Nature reviews. Cancer |
| 17704260 | Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. | Nava C et al. | 2007 | Journal of medical genetics |
| 17910045 | Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. | Paulsson K et al. | 2008 | Genes, chromosomes & cancer |
| 18316791 | Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. | Amado RG et al. | 2008 | Journal of clinical oncology |
| 18794081 | Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. | Riely GJ et al. | 2008 | Clinical cancer research |
| 19018267 | KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. | Nakayama N et al. | 2008 | British journal of cancer |
| 19029981 | Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers. | Engelman JA et al. | 2008 | Nature medicine |
| 19047918 | Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. | Yoshida N et al. | 2009 | Pediatric research |
| 19075190 | High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. | Tyner JW et al. | 2009 | Blood |
| 19114683 | Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. | Bokemeyer C et al. | 2009 | Journal of clinical oncology |
| 19255327 | Phase II trial of sorafenib in metastatic thyroid cancer. | Kloos RT et al. | 2009 | Journal of clinical oncology |
| 19358724 | KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. | Auner V et al. | 2009 | BMC cancer |
| 19679400 | Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. | Neumann J et al. | 2009 | Pathology, research and practice |
| 19773371 | Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. | Hoftijzer H et al. | 2009 | European journal of endocrinology |
| 19794967 | Clinical implications of KRAS mutations in lung cancer patients treated with tyrosine kinase inhibitors: an important role for mutations in minor clones. | Marchetti A et al. | 2009 | Neoplasia (New York, N.Y.) |
| 19881948 | BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) induction of senescence markers in human colon cancer cells. | Oikonomou E et al. | 2009 | Neoplasia (New York, N.Y.) |
| 20609353 | A synthetic lethal interaction between K-Ras oncogenes and Cdk4 unveils a therapeutic strategy for non-small cell lung carcinoma. | Puyol M et al. | 2010 | Cancer cell |
| 20805368 | Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. | Bourdeaut F et al. | 2010 | Journal of medical genetics |
| 20921462 | Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer. | Peeters M et al. | 2010 | Journal of clinical oncology |
| 20921465 | Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. | Douillard JY et al. | 2010 | Journal of clinical oncology |
| 20949522 | Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. | Rijntjes-Jacobs EG et al. | 2010 | American journal of medical genetics. Part A |
| 21079152 | Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. | Niemela JE et al. | 2011 | Blood |
| 21169357 | KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. | Fatrai S et al. | 2011 | The Journal of biological chemistry |
| 21228335 | Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study. | Bokemeyer C et al. | 2011 | Annals of oncology |
| 21398618 | Effect of simvastatin on cetuximab resistance in human colorectal cancer with KRAS mutations. | Lee J et al. | 2011 | Journal of the National Cancer Institute |
| 21975775 | Epidermal growth factor receptor blockers for the treatment of ovarian cancer. | Haldar K et al. | 2011 | The Cochrane database of systematic reviews |
| 22025163 | First-in-man clinical trial of the oral pan-AKT inhibitor MK-2206 in patients with advanced solid tumors. | Yap TA et al. | 2011 | Journal of clinical oncology |
| 22235099 | Mechanisms of resistance to crizotinib in patients with ALK gene rearranged non-small cell lung cancer. | Doebele RC et al. | 2012 | Clinical cancer research |
| 22282465 | KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. | Miranda C et al. | 2012 | Clinical cancer research |
| 22407852 | RAS mutations are frequent in FAB type M4 and M5 of acute myeloid leukemia, and related to late relapse: a study of the Japanese Childhood AML Cooperative Study Group. | Sano H et al. | 2012 | International journal of hematology |
| 22499344 | Keratinocytic epidermal nevi are associated with mosaic RAS mutations. | Hafner C et al. | 2012 | Journal of medical genetics |
| 22683711 | Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. | Groesser L et al. | 2012 | Nature genetics |
| 22897852 | Therapeutic effect of γ-secretase inhibition in KrasG12V-driven non-small cell lung carcinoma by derepression of DUSP1 and inhibition of ERK. | Maraver A et al. | 2012 | Cancer cell |
| 23014527 | Molecular epidemiology of EGFR and KRAS mutations in 3,026 lung adenocarcinomas: higher susceptibility of women to smoking-related KRAS-mutant cancers. | Dogan S et al. | 2012 | Clinical cancer research |
| 23182985 | Mutant KRAS codon 12 and 13 alleles in patients with metastatic colorectal cancer: assessment as prognostic and predictive biomarkers of response to panitumumab. | Peeters M et al. | 2013 | Journal of clinical oncology |
| 23406027 | Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. | Ho AL et al. | 2013 | The New England journal of medicine |
| 25044103 | Phase II study of the GI-4000 KRAS vaccine after curative therapy in patients with stage I-III lung adenocarcinoma harboring a KRAS G12C, G12D, or G12V mutation. | Chaft JE et al. | 2014 | Clinical lung cancer |
| 25157968 | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | MacConaill LE et al. | 2014 | The Journal of molecular diagnostics |
| 26372703 | Prognostic value of the KRAS G12V mutation in 841 surgically resected Caucasian lung adenocarcinoma cases. | Renaud S et al. | 2015 | British journal of cancer |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.