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.
rs1050829
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chrX:154535277 (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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.010973 (1435/130772, ALFA)C=0.0982 (472/4805, 1000G_30X)C=0.0946 (357/3775, 1000G) (+ 5 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- G6PD : Missense Variant
- Publications
- 47 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 130772 | T=0.989027 | A=0.000000, C=0.010973 | 0.98281 | 0.004756 | 0.012434 | 32 |
| European | Sub | 114918 | T=0.999417 | A=0.000000, C=0.000583 | 0.999025 | 0.000191 | 0.000783 | 32 |
| African | Sub | 6124 | T=0.7921 | A=0.0000, C=0.2079 | 0.675376 | 0.091117 | 0.233508 | 32 |
| African Others | Sub | 210 | T=0.724 | A=0.000, C=0.276 | 0.590476 | 0.142857 | 0.266667 | 7 |
| African American | Sub | 5914 | T=0.7946 | A=0.0000, C=0.2054 | 0.67839 | 0.08928 | 0.23233 | 32 |
| Asian | Sub | 3348 | T=1.0000 | A=0.0000, C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 2690 | T=1.0000 | A=0.0000, C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 658 | T=1.000 | A=0.000, C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 432 | T=0.954 | A=0.000, C=0.046 | 0.930556 | 0.023148 | 0.046296 | 26 |
| Latin American 2 | Sub | 908 | T=0.990 | A=0.000, C=0.010 | 0.984581 | 0.004405 | 0.011013 | 32 |
| South Asian | Sub | 274 | T=1.000 | A=0.000, C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 4768 | T=0.9862 | A=0.0000, C=0.0138 | 0.978188 | 0.005872 | 0.01594 | 32 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 130772 | T=0.989027 | A=0.000000, C=0.010973 |
| Allele Frequency Aggregator | European | Sub | 114918 | T=0.999417 | A=0.000000, C=0.000583 |
| Allele Frequency Aggregator | African | Sub | 6124 | T=0.7921 | A=0.0000, C=0.2079 |
| Allele Frequency Aggregator | Other | Sub | 4768 | T=0.9862 | A=0.0000, C=0.0138 |
| Allele Frequency Aggregator | Asian | Sub | 3348 | T=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 908 | T=0.990 | A=0.000, C=0.010 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 432 | T=0.954 | A=0.000, C=0.046 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | T=1.000 | A=0.000, C=0.000 |
| 1000Genomes_30X | Global | Study-wide | 4805 | T=0.9018 | C=0.0982 |
| 1000Genomes_30X | African | Sub | 1328 | T=0.6627 | C=0.3373 |
| 1000Genomes_30X | Europe | Sub | 961 | T=0.996 | C=0.004 |
| 1000Genomes_30X | South Asian | Sub | 883 | T=1.000 | C=0.000 |
| 1000Genomes_30X | East Asian | Sub | 878 | T=1.000 | C=0.000 |
| 1000Genomes_30X | American | Sub | 755 | T=0.974 | C=0.026 |
| 1000Genomes | Global | Study-wide | 3775 | T=0.9054 | C=0.0946 |
| 1000Genomes | African | Sub | 1003 | T=0.6620 | C=0.3380 |
| 1000Genomes | Europe | Sub | 766 | T=0.996 | C=0.004 |
| 1000Genomes | East Asian | Sub | 764 | T=1.000 | C=0.000 |
| 1000Genomes | South Asian | Sub | 718 | T=1.000 | C=0.000 |
| 1000Genomes | American | Sub | 524 | T=0.971 | C=0.029 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.9992 | C=0.0008 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 2889 | T=0.9997 | C=0.0003 |
| Qatari | Global | Study-wide | 108 | T=0.954 | C=0.046 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 52 | T=1.00 | C=0.00 |
| SGDP_PRJ | Global | Study-wide | 20 | T=0.10 | C=0.90 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.154535277T>A |
| GRCh38.p14 chr X | NC_000023.11:g.154535277T>C |
| GRCh37.p13 chr X fix patch HG1497_PATCH | NW_003871103.3:g.1969256T>A |
| GRCh37.p13 chr X fix patch HG1497_PATCH | NW_003871103.3:g.1969256T>C |
| G6PD RefSeqGene | NG_009015.2:g.17296A>T |
| G6PD RefSeqGene | NG_009015.2:g.17296A>G |
| GRCh37.p13 chr X | NC_000023.10:g.153763492T>A |
| GRCh37.p13 chr X | NC_000023.10:g.153763492T>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| G6PD transcript variant 1 | NM_000402.4:c.466A>T | N [AAT] > Y [TAT] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform a | NP_000393.4:p.Asn156Tyr | N (Asn) > Y (Tyr) | Missense Variant |
| G6PD transcript variant 1 | NM_000402.4:c.466A>G | N [AAT] > D [GAT] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform a | NP_000393.4:p.Asn156Asp | N (Asn) > D (Asp) | Missense Variant |
| G6PD transcript variant 3 | NM_001360016.2:c.376A>T | N [AAT] > Y [TAT] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001346945.1:p.Asn126Tyr | N (Asn) > Y (Tyr) | Missense Variant |
| G6PD transcript variant 3 | NM_001360016.2:c.376A>G | N [AAT] > D [GAT] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001346945.1:p.Asn126Asp | N (Asn) > D (Asp) | Missense Variant |
| G6PD transcript variant 2 | NM_001042351.3:c.376A>T | N [AAT] > Y [TAT] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001035810.1:p.Asn126Tyr | N (Asn) > Y (Tyr) | Missense Variant |
| G6PD transcript variant 2 | NM_001042351.3:c.376A>G | N [AAT] > D [GAT] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001035810.1:p.Asn126Asp | N (Asn) > D (Asp) | Missense Variant |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV002170707.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Conflicting-Interpretations-Of-Pathogenicity |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000011073.15 | G6PD A+ | Other |
| RCV000011075.24 | G6PD deficiency | Pathogenic |
| RCV000011109.13 | G6PD SANTAMARIA | Other |
| RCV000079405.47 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000178823.32 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000307631.13 | G6PD deficiency | Likely-Benign |
| RCV000477820.9 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,Malaria, susceptibility to | Pathogenic |
| RCV000999876.11 | not specified | Likely-Benign |
| RCV001095678.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency | Pathogenic |
| RCV001267359.12 | Inborn genetic diseases | Pathogenic |
| RCV001375611.12 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Pathogenic |
| RCV002305425.11 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic-Established-Risk-Allele |
| RCV002305432.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305707.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305727.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305732.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305803.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Uncertain-Significance |
| RCV002305807.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Uncertain-Significance |
| RCV002305808.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Uncertain-Significance |
| RCV002305836.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305857.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
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 | T= | A | C |
|---|---|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.154535277= | NC_000023.11:g.154535277T>A | NC_000023.11:g.154535277T>C |
| GRCh37.p13 chr X fix patch HG1497_PATCH | NW_003871103.3:g.1969256= | NW_003871103.3:g.1969256T>A | NW_003871103.3:g.1969256T>C |
| G6PD RefSeqGene | NG_009015.2:g.17296= | NG_009015.2:g.17296A>T | NG_009015.2:g.17296A>G |
| G6PD transcript variant 1 | NM_000402.4:c.466= | NM_000402.4:c.466A>T | NM_000402.4:c.466A>G |
| G6PD transcript variant 1 | NM_000402.3:c.466= | NM_000402.3:c.466A>T | NM_000402.3:c.466A>G |
| G6PD transcript variant 2 | NM_001042351.3:c.376= | NM_001042351.3:c.376A>T | NM_001042351.3:c.376A>G |
| G6PD transcript variant 2 | NM_001042351.2:c.376= | NM_001042351.2:c.376A>T | NM_001042351.2:c.376A>G |
| G6PD transcript variant 2 | NM_001042351.1:c.376= | NM_001042351.1:c.376A>T | NM_001042351.1:c.376A>G |
| G6PD transcript variant 3 | NM_001360016.2:c.376= | NM_001360016.2:c.376A>T | NM_001360016.2:c.376A>G |
| G6PD transcript variant 1 | NM_001360016.1:c.376= | NM_001360016.1:c.376A>T | NM_001360016.1:c.376A>G |
| GRCh37.p13 chr X | NC_000023.10:g.153763492= | NC_000023.10:g.153763492T>A | NC_000023.10:g.153763492T>C |
| glucose-6-phosphate 1-dehydrogenase isoform a | NP_000393.4:p.Asn156= | NP_000393.4:p.Asn156Tyr | NP_000393.4:p.Asn156Asp |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001035810.1:p.Asn126= | NP_001035810.1:p.Asn126Tyr | NP_001035810.1:p.Asn126Asp |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001346945.1:p.Asn126= | NP_001346945.1:p.Asn126Tyr | NP_001346945.1:p.Asn126Asp |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1525831 | Oct 05, 2000 (86) |
| 2 | WICVAR | ss3177126 | Aug 15, 2001 (102) |
| 3 | SC_JCM | ss3526371 | Sep 28, 2001 (100) |
| 4 | LEE | ss4416360 | May 29, 2002 (106) |
| 5 | CSHL-HAPMAP | ss18052006 | Feb 27, 2004 (120) |
| 6 | SEQUENOM | ss24796045 | Sep 20, 2004 (123) |
| 7 | ABI | ss43577126 | Mar 13, 2006 (126) |
| 8 | CORNELL | ss86241800 | Mar 23, 2008 (129) |
| 9 | SNP500CANCER | ss105436778 | Feb 04, 2009 (130) |
| 10 | 1000GENOMES | ss115337861 | Jan 25, 2009 (130) |
| 11 | SEATTLESEQ | ss159746045 | Dec 01, 2009 (131) |
| 12 | COMPLETE_GENOMICS | ss165817158 | Jul 04, 2010 (132) |
| 13 | OMICIA | ss244239872 | Aug 29, 2012 (137) |
| 14 | OMIM-CURATED-RECORDS | ss289479822 | Jan 06, 2011 (133) |
| 15 | 1000GENOMES | ss341909269 | May 09, 2011 (134) |
| 16 | NHLBI-ESP | ss342562465 | May 09, 2011 (134) |
| 17 | 1000GENOMES | ss491206105 | May 04, 2012 (137) |
| 18 | EXOME_CHIP | ss491580926 | May 04, 2012 (137) |
| 19 | ILLUMINA | ss535323435 | Sep 11, 2015 (146) |
| 20 | TISHKOFF | ss567108039 | Apr 25, 2013 (138) |
| 21 | JMKIDD_LAB | ss1067612240 | Apr 09, 2015 (144) |
| 22 | 1000GENOMES | ss1556698416 | Apr 09, 2015 (144) |
| 23 | EVA_UK10K_ALSPAC | ss1641785229 | Apr 09, 2015 (144) |
| 24 | EVA_UK10K_TWINSUK | ss1684779262 | Apr 09, 2015 (144) |
| 25 | EVA_EXAC | ss1694662810 | Apr 09, 2015 (144) |
| 26 | EVA_EXAC | ss1694662811 | Apr 09, 2015 (144) |
| 27 | WEILL_CORNELL_DGM | ss1939852051 | Feb 17, 2016 (147) |
| 28 | ILLUMINA | ss1945981458 | Feb 17, 2016 (147) |
| 29 | ILLUMINA | ss1958229242 | Feb 17, 2016 (147) |
| 30 | ILLUMINA | ss1958229243 | Feb 17, 2016 (147) |
| 31 | HUMAN_LONGEVITY | ss2321325427 | Dec 20, 2016 (150) |
| 32 | ILLUMINA | ss2634991674 | Oct 13, 2018 (152) |
| 33 | ILLUMINA | ss2711191349 | Oct 13, 2018 (152) |
| 34 | GNOMAD | ss2745625036 | Oct 13, 2018 (152) |
| 35 | GNOMAD | ss2746166238 | Oct 13, 2018 (152) |
| 36 | GNOMAD | ss2984756196 | Oct 13, 2018 (152) |
| 37 | AFFY | ss2985493628 | Oct 13, 2018 (152) |
| 38 | AFFY | ss2986139339 | Oct 13, 2018 (152) |
| 39 | ILLUMINA | ss3023047875 | Oct 13, 2018 (152) |
| 40 | ILLUMINA | ss3626004428 | Oct 13, 2018 (152) |
| 41 | ILLUMINA | ss3630501801 | Oct 13, 2018 (152) |
| 42 | ILLUMINA | ss3645020372 | Oct 13, 2018 (152) |
| 43 | ILLUMINA | ss3653606143 | Oct 13, 2018 (152) |
| 44 | ILLUMINA | ss3654261379 | Oct 13, 2018 (152) |
| 45 | ILLUMINA | ss3726710870 | Jul 14, 2019 (153) |
| 46 | ILLUMINA | ss3744335273 | Jul 14, 2019 (153) |
| 47 | KHV_HUMAN_GENOMES | ss3823525347 | Jul 14, 2019 (153) |
| 48 | EVA | ss3825516080 | Apr 27, 2020 (154) |
| 49 | SGDP_PRJ | ss3892536823 | Apr 27, 2020 (154) |
| 50 | FSA-LAB | ss3984446471 | Apr 27, 2021 (155) |
| 51 | EVA | ss3985974748 | Apr 27, 2021 (155) |
| 52 | EVA | ss3986888537 | Apr 27, 2021 (155) |
| 53 | EVA | ss6403997829 | Nov 02, 2024 (157) |
| 54 | GNOMAD | ss6473686955 | Nov 02, 2024 (157) |
| 55 | GNOMAD | ss6473686956 | Nov 02, 2024 (157) |
| 56 | TOPMED | ss8141613329 | Nov 02, 2024 (157) |
| 57 | TOPMED | ss8141613330 | Nov 02, 2024 (157) |
| 58 | 1000G_HIGH_COVERAGE | ss8314364529 | Nov 02, 2024 (157) |
| 59 | HUGCELL_USP | ss8505716667 | Nov 02, 2024 (157) |
| 60 | EVA | ss8512474065 | Nov 02, 2024 (157) |
| 61 | 1000G_HIGH_COVERAGE | ss8623703419 | Nov 02, 2024 (157) |
| 62 | SANFORD_IMAGENETICS | ss8624741787 | Nov 02, 2024 (157) |
| 63 | SANFORD_IMAGENETICS | ss8666098068 | Nov 02, 2024 (157) |
| 64 | EVA | ss8848241670 | Nov 02, 2024 (157) |
| 65 | EVA | ss8848748608 | Nov 02, 2024 (157) |
| 66 | EVA | ss8979247997 | Nov 02, 2024 (157) |
| 67 | GNOMAD | ss10110230576 | Nov 02, 2024 (157) |
| 68 | GNOMAD | ss10110230577 | Nov 02, 2024 (157) |
| 69 | 1000Genomes | NC_000023.10 - 153763492 | Oct 13, 2018 (152) |
| 70 | 1000Genomes_30X | NC_000023.11 - 154535277 | Nov 02, 2024 (157) |
| 71 | The Avon Longitudinal Study of Parents and Children | NC_000023.10 - 153763492 | Oct 13, 2018 (152) |
| 72 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 13, 2018 (152) |
| 73 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 13, 2018 (152) |
| 74 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 75 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 76 |
gnomAD v4 - Genomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 77 |
gnomAD v4 - Genomes
Submission ignored due to conflicting rows: |
- | Nov 02, 2024 (157) |
| 78 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000023.10 - 153763492 | Apr 27, 2021 (155) |
| 79 | Qatari | NC_000023.10 - 153763492 | Apr 27, 2020 (154) |
| 80 | SGDP_PRJ | NC_000023.10 - 153763492 | Apr 27, 2020 (154) |
| 81 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 82 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 83 | UK 10K study - Twins | NC_000023.10 - 153763492 | Oct 13, 2018 (152) |
| 84 | ALFA | NC_000023.11 - 154535277 | Nov 02, 2024 (157) |
| 85 | ClinVar | RCV000011073.15 | Nov 02, 2024 (157) |
| 86 | ClinVar | RCV000011075.24 | Nov 02, 2024 (157) |
| 87 | ClinVar | RCV000011109.13 | Nov 02, 2024 (157) |
| 88 | ClinVar | RCV000079405.47 | Nov 02, 2024 (157) |
| 89 | ClinVar | RCV000178823.32 | Nov 02, 2024 (157) |
| 90 | ClinVar | RCV000307631.13 | Nov 02, 2024 (157) |
| 91 | ClinVar | RCV000477820.9 | Nov 02, 2024 (157) |
| 92 | ClinVar | RCV000999876.11 | Nov 02, 2024 (157) |
| 93 | ClinVar | RCV001095678.10 | Nov 02, 2024 (157) |
| 94 | ClinVar | RCV001267359.12 | Nov 02, 2024 (157) |
| 95 | ClinVar | RCV001375611.12 | Nov 02, 2024 (157) |
| 96 | ClinVar | RCV002170707.10 | Nov 02, 2024 (157) |
| 97 | ClinVar | RCV002305425.11 | Nov 02, 2024 (157) |
| 98 | ClinVar | RCV002305432.10 | Nov 02, 2024 (157) |
| 99 | ClinVar | RCV002305707.10 | Nov 02, 2024 (157) |
| 100 | ClinVar | RCV002305727.10 | Nov 02, 2024 (157) |
| 101 | ClinVar | RCV002305732.10 | Nov 02, 2024 (157) |
| 102 | ClinVar | RCV002305803.10 | Nov 02, 2024 (157) |
| 103 | ClinVar | RCV002305807.10 | Nov 02, 2024 (157) |
| 104 | ClinVar | RCV002305808.10 | Nov 02, 2024 (157) |
| 105 | ClinVar | RCV002305836.10 | Nov 02, 2024 (157) |
| 106 | ClinVar | RCV002305857.10 | Nov 02, 2024 (157) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss1694662811, ss2745625036, ss8512474065 | NC_000023.10:153763491:T:A | NC_000023.11:154535276:T:A | (self) |
| RCV002170707.10, 7031716801, ss6473686955, ss8141613329, ss10110230576 | NC_000023.11:154535276:T:A | NC_000023.11:154535276:T:A | (self) |
| ss115337861, ss165817158 | NC_000023.9:153416685:T:C | NC_000023.11:154535276:T:C | (self) |
| 84651633, 46612239, 1200675, 21893973, 44553803, 46612239, ss341909269, ss342562465, ss491206105, ss491580926, ss535323435, ss567108039, ss1067612240, ss1556698416, ss1641785229, ss1684779262, ss1694662810, ss1939852051, ss1945981458, ss1958229242, ss1958229243, ss2634991674, ss2711191349, ss2745625036, ss2746166238, ss2984756196, ss2985493628, ss2986139339, ss3023047875, ss3626004428, ss3630501801, ss3645020372, ss3653606143, ss3654261379, ss3744335273, ss3825516080, ss3892536823, ss3984446471, ss3985974748, ss3986888537, ss6403997829, ss8512474065, ss8624741787, ss8666098068, ss8848241670, ss8848748608, ss8979247997 | NC_000023.10:153763491:T:C | NC_000023.11:154535276:T:C | (self) |
| RCV000011073.15, RCV000011075.24, RCV000011109.13, RCV000079405.47, RCV000178823.32, RCV000307631.13, RCV000477820.9, RCV000999876.11, RCV001095678.10, RCV001267359.12, RCV001375611.12, RCV002305425.11, RCV002305432.10, RCV002305707.10, RCV002305727.10, RCV002305732.10, RCV002305803.10, RCV002305807.10, RCV002305808.10, RCV002305836.10, RCV002305857.10, 111229354, 7031716801, ss244239872, ss289479822, ss2321325427, ss3726710870, ss3823525347, ss6473686956, ss8141613330, ss8314364529, ss8505716667, ss8623703419, ss10110230577 | NC_000023.11:154535276:T:C | NC_000023.11:154535276:T:C | (self) |
| ss18052006 | NT_025965.12:1115113:T:C | NC_000023.11:154535276:T:C | (self) |
| ss1525831, ss3177126, ss3526371, ss4416360, ss24796045, ss43577126, ss86241800, ss105436778, ss159746045 | NT_167198.1:4681429:T:C | NC_000023.11:154535276:T:C | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 5448 | Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. | Babalola AO et al. | 1976 | The Journal of biological chemistry |
| 669721 | A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. | Lisker R et al. | 1978 | Human genetics |
| 903703 | A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia. | Lisker R et al. | 1977 | The Journal of laboratory and clinical medicine |
| 1303173 | Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. | Town M et al. | 1992 | Human molecular genetics |
| 1631957 | The molecular basis of glucose-6-phosphate dehydrogenase deficiency. | Vulliamy T et al. | 1992 | Trends in genetics |
| 1978554 | The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. | Beutler E et al. | 1990 | American journal of human genetics |
| 2253938 | Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. | Calabrò V et al. | 1990 | Human genetics |
| 2503817 | G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. | Vulliamy TJ et al. | 1989 | Nucleic acids research |
| 2572288 | Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. | Beutler E et al. | 1989 | Blood |
| 2836867 | Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). | Hirono A et al. | 1988 | Proceedings of the National Academy of Sciences of the United States of America |
| 2912886 | Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum. | Vives-Corrons JL et al. | 1989 | Human genetics |
| 3393536 | Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. | Vulliamy TJ et al. | 1988 | Proceedings of the National Academy of Sciences of the United States of America |
| 3446582 | A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+). | Takizawa T et al. | 1987 | Genomics |
| 4388132 | Human glucose 6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+). | Yoshida A et al. | 1967 | Biochemical genetics |
| 5492291 | Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. | Yoshida A et al. | 1970 | Journal of molecular biology |
| 6433630 | A glucose-6-phosphate dehydrogenase variant, Gd(-) Santamaria found in Costa Rica. | Sáenz GF et al. | 1984 | Acta haematologica |
| 7106752 | Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism. | Vives Corrons JL et al. | 1982 | Human genetics |
| 7291768 | [Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia]. | Lisker R et al. | 1981 | Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion |
| 7949118 | G6PD deficiency. | Beutler E et al. | 1994 | Blood |
| 10734064 | Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. | Gómez-Gallego F et al. | 2000 | The Journal of biological chemistry |
| 12367584 | Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants. | Hamel AR et al. | 2002 | Blood cells, molecules & diseases |
| 14278484 | FUNCTIONALLY ABNORMAL GLUCOSE-6-PHOSPHATE DEHYDROGENASES. | KIRKMAN HN et al. | 1964 | Cold Spring Harbor symposia on quantitative biology |
| 19223928 | Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility. | Clark TG et al. | 2009 | European journal of human genetics |
| 20459687 | Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring. | Eid NA et al. | 2010 | Malaria journal |
| 21515823 | Genetic predictors for stroke in children with sickle cell anemia. | Flanagan JM et al. | 2011 | Blood |
| 21867552 | Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites. | Diakite M et al. | 2011 | Malaria journal |
| 21931645 | An exhaustive, non-euclidean, non-parametric data mining tool for unraveling the complexity of biological systems--novel insights into malaria. | Loucoubar C et al. | 2011 | PloS one |
| 21931771 | Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. | B R et al. | 2011 | PloS one |
| 22438807 | HMOX1 gene promoter alleles and high HO-1 levels are associated with severe malaria in Gambian children. | Walther M et al. | 2012 | PLoS pathogens |
| 22957039 | Candidate polymorphisms and severe malaria in a Malian population. | Toure O et al. | 2012 | PloS one |
| 23144702 | Candidate human genetic polymorphisms and severe malaria in a Tanzanian population. | Manjurano A et al. | 2012 | PloS one |
| 23757202 | Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. | Bean LJ et al. | 2013 | Human mutation |
| 24934404 | Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study. | Apinjoh TO et al. | 2014 | Malaria journal |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 27413522 | Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Burkina Faso: G-6-PD Betica Selma and Santamaria in People with Symptomatic Malaria in Ouagadougou. | Ouattara AK et al. | 2016 | Mediterranean journal of hematology and infectious diseases |
| 27767381 | The effect of SNPs in CYP450 in chloroquine/primaquine Plasmodium vivax malaria treatment. | Sortica VA et al. | 2016 | Pharmacogenomics |
| 28067620 | Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia. | Clarke GM et al. | 2017 | eLife |
| 28541483 | Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity. | Sepúlveda N et al. | 2017 | The Journal of infectious diseases |
| 30819192 | An update on glucose-6-phosphate dehydrogenase deficiency in children from Brazzaville, Republic of Congo. | Gampio Gueye NS et al. | 2019 | Malaria journal |
| 32936528 | Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19). | Zubiaur P et al. | 2020 | Clinical and translational science |
| 33170161 | Genetic test for the prescription of diets in support of physical activity. | Naureen Z et al. | 2020 | Acta bio-medica |
| 33875422 | Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. | Pernaute-Lau L et al. | 2021 | Antimicrobial agents and chemotherapy |
| 33897764 | G6PD Polymorphisms and Hemolysis After Antimalarial Treatment With Low Single-Dose Primaquine: A Pooled Analysis of Six African Clinical Trials. | Sepúlveda N et al. | 2021 | Frontiers in genetics |
| 34577605 | Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies. | Membrive Jiménez C et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
| 35283964 | Differences in the genotype frequencies of genes related to blood pressure regulation - a comparative study between South-West Europe and Peri-equatorial Africa. | Aguiar L et al. | 2021 | African health sciences |
| 36479490 | Clinical assessment for diet prescription. | Kiani AK et al. | 2022 | Journal of preventive medicine and hygiene |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.