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.
rs1050828
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chrX:154536002 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.0035353 (3719/1051957, GnomAD_exomes)T=0.038373 (10157/264690, TOPMED)T=0.006029 (1161/192568, ALFA) (+ 12 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- G6PD : Missense Variant
- Publications
- 74 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 | 192568 | C=0.993971 | T=0.006029 | 0.989926 | 0.001984 | 0.008091 | 32 |
| European | Sub | 164198 | C=0.999842 | T=0.000158 | 0.999744 | 0.000061 | 0.000195 | 32 |
| African | Sub | 9228 | C=0.8838 | T=0.1162 | 0.805592 | 0.037928 | 0.15648 | 32 |
| African Others | Sub | 302 | C=0.864 | T=0.136 | 0.761589 | 0.033113 | 0.205298 | 2 |
| African American | Sub | 8926 | C=0.8845 | T=0.1155 | 0.80708 | 0.038091 | 0.154829 | 32 |
| Asian | Sub | 6382 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 4526 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 1856 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 508 | C=0.984 | T=0.016 | 0.968504 | 0.0 | 0.031496 | 0 |
| Latin American 2 | Sub | 1098 | C=0.9982 | T=0.0018 | 0.996357 | 0.0 | 0.003643 | 0 |
| South Asian | Sub | 286 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 10868 | C=0.99512 | T=0.00488 | 0.992271 | 0.002024 | 0.005705 | 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 |
|---|---|---|---|---|---|
| gnomAD v4 - Exomes | Global | Study-wide | 1051957 | C=0.9964647 | T=0.0035353 |
| gnomAD v4 - Exomes | European | Sub | 882491 | C=0.999938 | T=0.000062 |
| gnomAD v4 - Exomes | South Asian | Sub | 54137 | C=0.99970 | T=0.00030 |
| gnomAD v4 - Exomes | American | Sub | 35207 | C=0.99511 | T=0.00489 |
| gnomAD v4 - Exomes | East Asian | Sub | 30204 | C=1.00000 | T=0.00000 |
| gnomAD v4 - Exomes | African | Sub | 26398 | C=0.86901 | T=0.13099 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 19385 | C=1.00000 | T=0.00000 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 4135 | C=0.9956 | T=0.0044 |
| TopMed | Global | Study-wide | 264690 | C=0.961627 | T=0.038373 |
| Allele Frequency Aggregator | Total | Global | 192568 | C=0.993971 | T=0.006029 |
| Allele Frequency Aggregator | European | Sub | 164198 | C=0.999842 | T=0.000158 |
| Allele Frequency Aggregator | Other | Sub | 10868 | C=0.99512 | T=0.00488 |
| Allele Frequency Aggregator | African | Sub | 9228 | C=0.8838 | T=0.1162 |
| Allele Frequency Aggregator | Asian | Sub | 6382 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1098 | C=0.9982 | T=0.0018 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 508 | C=0.984 | T=0.016 |
| Allele Frequency Aggregator | South Asian | Sub | 286 | C=1.000 | T=0.000 |
| gnomAD v4 - Genomes | Global | Study-wide | 109889 | C=0.966257 | T=0.033743 |
| gnomAD v4 - Genomes | European | Sub | 59312 | C=0.99981 | T=0.00019 |
| gnomAD v4 - Genomes | African | Sub | 30814 | C=0.88427 | T=0.11573 |
| gnomAD v4 - Genomes | American | Sub | 10642 | C=0.98788 | T=0.01212 |
| gnomAD v4 - Genomes | East Asian | Sub | 3539 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 2712 | C=0.9996 | T=0.0004 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 2651 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 219 | C=0.995 | T=0.005 |
| ExAC | Global | Study-wide | 86653 | C=0.98849 | T=0.01151 |
| ExAC | Europe | Sub | 51728 | C=0.99981 | T=0.00019 |
| ExAC | Asian | Sub | 16629 | C=0.99976 | T=0.00024 |
| ExAC | American | Sub | 9269 | C=0.9971 | T=0.0029 |
| ExAC | African | Sub | 8415 | C=0.8865 | T=0.1135 |
| ExAC | Other | Sub | 612 | C=0.998 | T=0.002 |
| 38KJPN | JAPANESE | Study-wide | 66162 | C=0.99998 | T=0.00002 |
| 1000Genomes_30X | Global | Study-wide | 4805 | C=0.9611 | T=0.0389 |
| 1000Genomes_30X | African | Sub | 1328 | C=0.8660 | T=0.1340 |
| 1000Genomes_30X | Europe | Sub | 961 | C=1.000 | T=0.000 |
| 1000Genomes_30X | South Asian | Sub | 883 | C=1.000 | T=0.000 |
| 1000Genomes_30X | East Asian | Sub | 878 | C=1.000 | T=0.000 |
| 1000Genomes_30X | American | Sub | 755 | C=0.988 | T=0.012 |
| 1000Genomes | Global | Study-wide | 3775 | C=0.9624 | T=0.0376 |
| 1000Genomes | African | Sub | 1003 | C=0.8654 | T=0.1346 |
| 1000Genomes | Europe | Sub | 766 | C=1.000 | T=0.000 |
| 1000Genomes | East Asian | Sub | 764 | C=1.000 | T=0.000 |
| 1000Genomes | South Asian | Sub | 718 | C=1.000 | T=0.000 |
| 1000Genomes | American | Sub | 524 | C=0.987 | T=0.013 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9997 | T=0.0003 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 2889 | C=1.0000 | T=0.0000 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | C=0.9982 | T=0.0018 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 624 | C=1.000 | T=0.000 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=1.000 | T=0.000 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=1.000 | T=0.000 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=1.000 | T=0.000 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.98 | T=0.02 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=1.00 | T=0.00 |
| HapMap | Global | Study-wide | 1094 | C=0.9095 | T=0.0905 |
| HapMap | African | Sub | 690 | C=0.878 | T=0.122 |
| HapMap | American | Sub | 316 | C=0.953 | T=0.047 |
| HapMap | Asian | Sub | 88 | C=1.00 | T=0.00 |
| Qatari | Global | Study-wide | 108 | C=0.981 | T=0.019 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | C=1.00 | T=0.00 |
| SGDP_PRJ | Global | Study-wide | 4 | C=0.2 | T=0.8 |
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 X | NC_000023.11:g.154536002C>T |
| GRCh37.p13 chr X fix patch HG1497_PATCH | NW_003871103.3:g.1969981C>T |
| G6PD RefSeqGene | NG_009015.2:g.16571G>A |
| GRCh37.p13 chr X | NC_000023.10:g.153764217C>T |
Gene: G6PD, glucose-6-phosphate dehydrogenase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| G6PD transcript variant 1 | NM_000402.4:c.292G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform a | NP_000393.4:p.Val98Met | V (Val) > M (Met) | Missense Variant |
| G6PD transcript variant 3 | NM_001360016.2:c.202G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001346945.1:p.Val68Met | V (Val) > M (Met) | Missense Variant |
| G6PD transcript variant 2 | NM_001042351.3:c.202G>A | V [GTG] > M [ATG] | Coding Sequence Variant |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001035810.1:p.Val68Met | V (Val) > M (Met) | 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: T (allele ID:
25400
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000011075.24 | G6PD deficiency | Pathogenic |
| RCV000011157.10 | G6PD ASAHI | Other |
| RCV000079404.39 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Pathogenic-Likely-Pathogenic |
| RCV000224469.49 | not provided | Pathogenic |
| RCV000606259.14 | G6PD deficiency | Pathogenic |
| RCV000999820.15 | not specified | Pathogenic |
| RCV001095679.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency,G6PD deficiency | Pathogenic |
| RCV001267358.12 | Inborn genetic diseases | Pathogenic |
| RCV002305425.11 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic-Established-Risk-Allele |
| RCV002305706.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305732.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV002305806.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Uncertain-Significance |
| RCV002305807.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Uncertain-Significance |
| RCV002305821.10 | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | Likely-Pathogenic |
| RCV003460495.2 | Malaria, susceptibility to | 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= | T |
|---|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.154536002= | NC_000023.11:g.154536002C>T |
| GRCh37.p13 chr X fix patch HG1497_PATCH | NW_003871103.3:g.1969981= | NW_003871103.3:g.1969981C>T |
| G6PD RefSeqGene | NG_009015.2:g.16571= | NG_009015.2:g.16571G>A |
| G6PD transcript variant 1 | NM_000402.4:c.292= | NM_000402.4:c.292G>A |
| G6PD transcript variant 1 | NM_000402.3:c.292= | NM_000402.3:c.292G>A |
| G6PD transcript variant 2 | NM_001042351.3:c.202= | NM_001042351.3:c.202G>A |
| G6PD transcript variant 2 | NM_001042351.2:c.202= | NM_001042351.2:c.202G>A |
| G6PD transcript variant 2 | NM_001042351.1:c.202= | NM_001042351.1:c.202G>A |
| G6PD transcript variant 3 | NM_001360016.2:c.202= | NM_001360016.2:c.202G>A |
| G6PD transcript variant 1 | NM_001360016.1:c.202= | NM_001360016.1:c.202G>A |
| GRCh37.p13 chr X | NC_000023.10:g.153764217= | NC_000023.10:g.153764217C>T |
| glucose-6-phosphate 1-dehydrogenase isoform a | NP_000393.4:p.Val98= | NP_000393.4:p.Val98Met |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001035810.1:p.Val68= | NP_001035810.1:p.Val68Met |
| glucose-6-phosphate 1-dehydrogenase isoform b | NP_001346945.1:p.Val68= | NP_001346945.1:p.Val68Met |
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#.
89 SubSNP,
15 Frequency,
15 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1525829 | Oct 05, 2000 (86) |
| 2 | TSC-CSHL | ss2776420 | Jan 12, 2001 (98) |
| 3 | SC_JCM | ss3526125 | Sep 28, 2001 (100) |
| 4 | LEE | ss4416359 | May 29, 2002 (106) |
| 5 | ABI | ss43567477 | Mar 14, 2006 (126) |
| 6 | ILLUMINA | ss65724716 | Oct 15, 2006 (127) |
| 7 | PERLEGEN | ss69268808 | May 17, 2007 (127) |
| 8 | ILLUMINA | ss74896037 | Dec 06, 2007 (129) |
| 9 | AFFY | ss76822035 | Dec 06, 2007 (129) |
| 10 | SNP500CANCER | ss105436777 | Feb 05, 2009 (130) |
| 11 | KRIBB_YJKIM | ss119380414 | Dec 01, 2009 (131) |
| 12 | ILLUMINA | ss170284181 | Jul 04, 2010 (132) |
| 13 | OMICIA | ss244239868 | Aug 29, 2012 (137) |
| 14 | ILLUMINA | ss244269443 | Jul 04, 2010 (132) |
| 15 | OMIM-CURATED-RECORDS | ss289479898 | Jan 06, 2011 (133) |
| 16 | 1000GENOMES | ss341909270 | May 09, 2011 (134) |
| 17 | NHLBI-ESP | ss342562469 | May 09, 2011 (134) |
| 18 | 1000GENOMES | ss491206107 | May 04, 2012 (137) |
| 19 | EXOME_CHIP | ss491580928 | May 04, 2012 (137) |
| 20 | ILLUMINA | ss535291048 | Sep 11, 2015 (146) |
| 21 | ILLUMINA | ss780769156 | Sep 11, 2015 (146) |
| 22 | ILLUMINA | ss783448693 | Sep 11, 2015 (146) |
| 23 | HAMMER_LAB | ss1397803189 | Sep 08, 2015 (146) |
| 24 | 1000GENOMES | ss1556698428 | Apr 09, 2015 (144) |
| 25 | EVA_UK10K_ALSPAC | ss1641785238 | Apr 09, 2015 (144) |
| 26 | EVA_UK10K_TWINSUK | ss1684779271 | Apr 09, 2015 (144) |
| 27 | EVA_EXAC | ss1694662859 | Apr 09, 2015 (144) |
| 28 | ILLUMINA | ss1752801569 | Sep 11, 2015 (146) |
| 29 | ILLUMINA | ss1917720706 | Feb 17, 2016 (147) |
| 30 | WEILL_CORNELL_DGM | ss1939852053 | Feb 17, 2016 (147) |
| 31 | ILLUMINA | ss1945981462 | Feb 17, 2016 (147) |
| 32 | ILLUMINA | ss1945981463 | Feb 17, 2016 (147) |
| 33 | ILLUMINA | ss1958229249 | Feb 17, 2016 (147) |
| 34 | ILLUMINA | ss1958229250 | Feb 17, 2016 (147) |
| 35 | ILLUMINA | ss1958229251 | Feb 17, 2016 (147) |
| 36 | HUMAN_LONGEVITY | ss2321325455 | Dec 20, 2016 (150) |
| 37 | ILLUMINA | ss2634991678 | Oct 13, 2018 (152) |
| 38 | ILLUMINA | ss2711191350 | Oct 13, 2018 (152) |
| 39 | ILLUMINA | ss2711191351 | Oct 13, 2018 (152) |
| 40 | GNOMAD | ss2745625097 | Oct 13, 2018 (152) |
| 41 | GNOMAD | ss2746166256 | Oct 13, 2018 (152) |
| 42 | GNOMAD | ss2984756238 | Oct 13, 2018 (152) |
| 43 | AFFY | ss2985493634 | Oct 13, 2018 (152) |
| 44 | AFFY | ss2986139342 | Oct 13, 2018 (152) |
| 45 | ILLUMINA | ss3023047882 | Oct 13, 2018 (152) |
| 46 | ILLUMINA | ss3023047883 | Oct 13, 2018 (152) |
| 47 | ILLUMINA | ss3023047884 | Oct 13, 2018 (152) |
| 48 | ILLUMINA | ss3023047885 | Oct 13, 2018 (152) |
| 49 | ILLUMINA | ss3626004431 | Oct 13, 2018 (152) |
| 50 | ILLUMINA | ss3630501805 | Oct 13, 2018 (152) |
| 51 | ILLUMINA | ss3630501806 | Oct 13, 2018 (152) |
| 52 | ILLUMINA | ss3635263276 | Oct 13, 2018 (152) |
| 53 | ILLUMINA | ss3638884589 | Oct 13, 2018 (152) |
| 54 | ILLUMINA | ss3640970747 | Oct 13, 2018 (152) |
| 55 | ILLUMINA | ss3643807983 | Oct 13, 2018 (152) |
| 56 | ILLUMINA | ss3645020375 | Oct 13, 2018 (152) |
| 57 | ILLUMINA | ss3645020376 | Oct 13, 2018 (152) |
| 58 | ILLUMINA | ss3653606150 | Oct 13, 2018 (152) |
| 59 | ILLUMINA | ss3653606151 | Oct 13, 2018 (152) |
| 60 | ILLUMINA | ss3653606152 | Oct 13, 2018 (152) |
| 61 | ILLUMINA | ss3653606153 | Oct 13, 2018 (152) |
| 62 | ILLUMINA | ss3654261385 | Oct 13, 2018 (152) |
| 63 | ILLUMINA | ss3726710877 | Jul 14, 2019 (153) |
| 64 | ILLUMINA | ss3744335275 | Jul 14, 2019 (153) |
| 65 | ILLUMINA | ss3744602555 | Jul 14, 2019 (153) |
| 66 | ILLUMINA | ss3745563780 | Jul 14, 2019 (153) |
| 67 | ILLUMINA | ss3773055386 | Jul 14, 2019 (153) |
| 68 | KHV_HUMAN_GENOMES | ss3823525348 | Jul 14, 2019 (153) |
| 69 | EVA | ss3825516090 | Apr 27, 2020 (154) |
| 70 | EVA | ss3825981210 | Apr 27, 2020 (154) |
| 71 | SGDP_PRJ | ss3892536831 | Apr 27, 2020 (154) |
| 72 | NORTHRUP_AU | ss3983910036 | Apr 27, 2021 (155) |
| 73 | EVA | ss3985974749 | Apr 27, 2021 (155) |
| 74 | EVA | ss3986888539 | Apr 27, 2021 (155) |
| 75 | TOMMO_GENOMICS | ss6205662191 | Nov 02, 2024 (157) |
| 76 | EVA | ss6403997835 | Nov 02, 2024 (157) |
| 77 | GNOMAD | ss6473687220 | Nov 02, 2024 (157) |
| 78 | TOPMED | ss8141613484 | Nov 02, 2024 (157) |
| 79 | 1000G_HIGH_COVERAGE | ss8314364537 | Nov 02, 2024 (157) |
| 80 | HUGCELL_USP | ss8505716671 | Nov 02, 2024 (157) |
| 81 | EVA | ss8512474066 | Nov 02, 2024 (157) |
| 82 | 1000G_HIGH_COVERAGE | ss8623703436 | Nov 02, 2024 (157) |
| 83 | SANFORD_IMAGENETICS | ss8624741788 | Nov 02, 2024 (157) |
| 84 | SANFORD_IMAGENETICS | ss8666098071 | Nov 02, 2024 (157) |
| 85 | EVA | ss8848241675 | Nov 02, 2024 (157) |
| 86 | EVA | ss8848748610 | Nov 02, 2024 (157) |
| 87 | EVA | ss8979248006 | Nov 02, 2024 (157) |
| 88 | EVA | ss8979924781 | Nov 02, 2024 (157) |
| 89 | GNOMAD | ss10110230702 | Nov 02, 2024 (157) |
| 90 | 1000Genomes | NC_000023.10 - 153764217 | Oct 13, 2018 (152) |
| 91 | 1000Genomes_30X | NC_000023.11 - 154536002 | Nov 02, 2024 (157) |
| 92 | The Avon Longitudinal Study of Parents and Children | NC_000023.10 - 153764217 | Oct 13, 2018 (152) |
| 93 | Genome-wide autozygosity in Daghestan | NC_000023.9 - 153417411 | Apr 27, 2020 (154) |
| 94 | ExAC | NC_000023.10 - 153764217 | Oct 13, 2018 (152) |
| 95 | gnomAD v4 - Exomes | NC_000023.11 - 154536002 | Nov 02, 2024 (157) |
| 96 | gnomAD v4 - Genomes | NC_000023.11 - 154536002 | Nov 02, 2024 (157) |
| 97 | HapMap | NC_000023.11 - 154536002 | Apr 27, 2020 (154) |
| 98 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000023.10 - 153764217 | Apr 27, 2021 (155) |
| 99 | Qatari | NC_000023.10 - 153764217 | Apr 27, 2020 (154) |
| 100 | SGDP_PRJ | NC_000023.10 - 153764217 | Apr 27, 2020 (154) |
| 101 | 38KJPN | NC_000023.11 - 154536002 | Nov 02, 2024 (157) |
| 102 | TopMed | NC_000023.11 - 154536002 | Apr 27, 2021 (155) |
| 103 | UK 10K study - Twins | NC_000023.10 - 153764217 | Oct 13, 2018 (152) |
| 104 | ALFA | NC_000023.11 - 154536002 | Nov 02, 2024 (157) |
| 105 | ClinVar | RCV000011075.24 | Nov 02, 2024 (157) |
| 106 | ClinVar | RCV000011157.10 | Nov 02, 2024 (157) |
| 107 | ClinVar | RCV000079404.39 | Nov 02, 2024 (157) |
| 108 | ClinVar | RCV000224469.49 | Nov 02, 2024 (157) |
| 109 | ClinVar | RCV000606259.14 | Nov 02, 2024 (157) |
| 110 | ClinVar | RCV000999820.15 | Nov 02, 2024 (157) |
| 111 | ClinVar | RCV001095679.10 | Nov 02, 2024 (157) |
| 112 | ClinVar | RCV001267358.12 | Nov 02, 2024 (157) |
| 113 | ClinVar | RCV002305425.11 | Nov 02, 2024 (157) |
| 114 | ClinVar | RCV002305706.10 | Nov 02, 2024 (157) |
| 115 | ClinVar | RCV002305732.10 | Nov 02, 2024 (157) |
| 116 | ClinVar | RCV002305806.10 | Nov 02, 2024 (157) |
| 117 | ClinVar | RCV002305807.10 | Nov 02, 2024 (157) |
| 118 | ClinVar | RCV002305821.10 | Nov 02, 2024 (157) |
| 119 | ClinVar | RCV003460495.2 | Nov 02, 2024 (157) |
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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) |
|---|---|
| rs1894404 | Aug 15, 2001 (98) |
| rs2230034 | Jan 04, 2002 (102) |
| rs3191188 | Jul 03, 2002 (106) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 554595, ss76822035, ss1397803189, ss3643807983 | NC_000023.9:153417410:C:T | NC_000023.11:154536001:C:T | (self) |
| 84651645, 46612249, 10174709, 1200676, 21893975, 44553811, 46612249, ss341909270, ss342562469, ss491206107, ss491580928, ss535291048, ss780769156, ss783448693, ss1556698428, ss1641785238, ss1684779271, ss1694662859, ss1752801569, ss1917720706, ss1939852053, ss1945981462, ss1945981463, ss1958229249, ss1958229250, ss1958229251, ss2634991678, ss2711191350, ss2711191351, ss2745625097, ss2746166256, ss2984756238, ss2985493634, ss2986139342, ss3023047882, ss3023047883, ss3023047884, ss3023047885, ss3626004431, ss3630501805, ss3630501806, ss3635263276, ss3638884589, ss3640970747, ss3645020375, ss3645020376, ss3653606150, ss3653606151, ss3653606152, ss3653606153, ss3654261385, ss3744335275, ss3744602555, ss3745563780, ss3773055386, ss3825516090, ss3825981210, ss3892536831, ss3983910036, ss3985974749, ss3986888539, ss6403997835, ss8512474066, ss8624741788, ss8666098071, ss8848241675, ss8848748610, ss8979248006, ss8979924781 | NC_000023.10:153764216:C:T | NC_000023.11:154536001:C:T | (self) |
| RCV000011075.24, RCV000011157.10, RCV000079404.39, RCV000224469.49, RCV000606259.14, RCV000999820.15, RCV001095679.10, RCV001267358.12, RCV002305425.11, RCV002305706.10, RCV002305732.10, RCV002305806.10, RCV002305807.10, RCV002305821.10, RCV003460495.2, 111229371, 69040758, 638031228, 4058863, 223038011, 705219841, 11360421017, ss244239868, ss289479898, ss2321325455, ss3726710877, ss3823525348, ss6205662191, ss6473687220, ss8141613484, ss8314364537, ss8505716671, ss8623703436, ss10110230702 | NC_000023.11:154536001:C:T | NC_000023.11:154536001:C:T | (self) |
| ss1525829, ss2776420, ss3526125, ss4416359, ss43567477, ss65724716, ss69268808, ss74896037, ss105436777, ss119380414, ss170284181, ss244269443 | NT_167198.1:4682154:C:T | NC_000023.11:154536001: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.
74
citations for rs1050828
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 11852882 | A single mutation 202G>A in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. | Hirono A et al. | 2002 | Blood |
| 15183620 | Comparison of chlorproguanil-dapsone with sulfadoxine-pyrimethamine for the treatment of uncomplicated falciparum malaria in young African children: double-blind randomised controlled trial. | Alloueche A et al. | 2004 | Lancet (London, England) |
| 19112496 | High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. | Fanello CI et al. | 2008 | PloS one |
| 19223928 | Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility. | Clark TG et al. | 2009 | European journal of human genetics |
| 19465909 | Genome-wide and fine-resolution association analysis of malaria in West Africa. | Jallow M et al. | 2009 | Nature genetics |
| 19690618 | Chlorproguanil-dapsone-artesunate versus artemether-lumefantrine: a randomized, double-blind phase III trial in African children and adolescents with uncomplicated Plasmodium falciparum malaria. | Premji Z et al. | 2009 | PloS one |
| 20459687 | Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring. | Eid NA et al. | 2010 | Malaria journal |
| 20556870 | CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. | Johnson AD et al. | 2010 | Genetics in medicine |
| 21153663 | Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. | Lo KS et al. | 2011 | Human genetics |
| 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 |
| 21929748 | Genetic polymorphisms linked to susceptibility to malaria. | Driss A 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 |
| 22615793 | Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population. | da Silva Santos S et al. | 2012 | PloS one |
| 22957039 | Candidate polymorphisms and severe malaria in a Malian population. | Toure O et al. | 2012 | PloS one |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23144702 | Candidate human genetic polymorphisms and severe malaria in a Tanzanian population. | Manjurano A et al. | 2012 | PloS one |
| 23446634 | Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. | Chen Z et al. | 2013 | Human molecular genetics |
| 23614351 | The genetic risk of acute seizures in African children with falciparum malaria. | Kariuki SM et al. | 2013 | Epilepsia |
| 23696099 | Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. | Ding K et al. | 2013 | G3 (Bethesda, Md.) |
| 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 |
| 24101478 | Humanized mouse model of glucose 6-phosphate dehydrogenase deficiency for in vivo assessment of hemolytic toxicity. | Rochford R et al. | 2013 | Proceedings of the National Academy of Sciences of the United States of America |
| 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 |
| 24987407 | eMERGEing progress in genomics-the first seven years. | Crawford DC et al. | 2014 | Frontiers in genetics |
| 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 |
| 25805752 | USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania. | Manjurano A et al. | 2015 | The Journal of infectious diseases |
| 26738565 | Heterogeneous alleles comprising G6PD deficiency trait in West Africa exert contrasting effects on two major clinical presentations of severe malaria. | Shah SS et al. | 2016 | Malaria journal |
| 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 |
| 28771511 | Exploring public genomics data for population pharmacogenomics. | Lakiotaki K et al. | 2017 | PloS one |
| 29522974 | Genetics of HbA1c: a case study in clinical translation. | Leong A et al. | 2018 | Current opinion in genetics & development |
| 29931457 | Impact of Genetic Determinants of HbA1c on Type 2 Diabetes Risk and Diagnosis. | Sarnowski C et al. | 2018 | Current diabetes reports |
| 30819192 | An update on glucose-6-phosphate dehydrogenase deficiency in children from Brazzaville, Republic of Congo. | Gampio Gueye NS et al. | 2019 | Malaria journal |
| 31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
| 31213470 | A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A(1c) With Implications for Glycemic Status in U.S. Hispanics/Latinos. | Moon JY et al. | 2019 | Diabetes care |
| 31564435 | Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program. | Sarnowski C et al. | 2019 | American journal of human genetics |
| 32536341 | Risk of pneumococcal bacteremia in Kenyan children with glucose-6-phosphate dehydrogenase deficiency. | Gilchrist JJ et al. | 2020 | BMC medicine |
| 32577690 | G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. | da Rocha J et al. | 2020 | medRxiv |
| 32641076 | Exome sequencing for diagnosis of congenital hemolytic anemia. | Mansour-Hendili L et al. | 2020 | Orphanet journal of rare diseases |
| 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 |
| 34093240 | Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study. | Fermo E et al. | 2021 | Frontiers in physiology |
| 34125832 | Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. | Borda V et al. | 2021 | PLoS neglected tropical diseases |
| 34302047 | G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19. | da Rocha JEB et al. | 2021 | The pharmacogenomics journal |
| 34316407 | Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants. | McConnell H et al. | 2021 | PeerJ |
| 34577605 | Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies. | Membrive Jiménez C et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
| 34996340 | Associations between the TNMD rs4828038 and ACE2 rs879922 polymorphisms and preeclampsia susceptibility: a case-control study. | Song W et al. | 2022 | Journal of obstetrics and gynaecology |
| 35811813 | G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria. | Thiam F et al. | 2022 | PeerJ |
| 36164570 | Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard. | Alshabeeb MA et al. | 2022 | Saudi pharmaceutical journal |
| 36479490 | Clinical assessment for diet prescription. | Kiani AK et al. | 2022 | Journal of preventive medicine and hygiene |
| 37588055 | Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study. | Reis BCSD et al. | 2023 | Frontiers in cellular and infection microbiology |
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.