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.
rs334
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:5227002 (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 / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.003480 (874/251180, GnomAD_exome)A=0.012978 (1820/140232, GnomAD)A=0.004384 (532/121340, ExAC) (+ 10 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- HBB : Missense Variant
- Publications
- 112 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 | 44606 | T=0.99922 | A=0.00078 | 0.998431 | 0.0 | 0.001569 | 0 |
| European | Sub | 32830 | T=0.99994 | A=0.00006 | 0.999878 | 0.0 | 0.000122 | 0 |
| African | Sub | 3340 | T=0.9970 | A=0.0030 | 0.994012 | 0.0 | 0.005988 | 0 |
| African Others | Sub | 108 | T=0.991 | A=0.009 | 0.981481 | 0.0 | 0.018519 | 0 |
| African American | Sub | 3232 | T=0.9972 | A=0.0028 | 0.994431 | 0.0 | 0.005569 | 0 |
| Asian | Sub | 168 | T=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 112 | T=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 56 | T=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 498 | T=0.978 | A=0.022 | 0.955823 | 0.0 | 0.044177 | 0 |
| Latin American 2 | Sub | 626 | T=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | T=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 7046 | T=0.9983 | A=0.0017 | 0.996594 | 0.0 | 0.003406 | 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 - Exomes | Global | Study-wide | 251180 | T=0.996520 | A=0.003480 |
| gnomAD - Exomes | European | Sub | 135172 | T=0.999956 | A=0.000044 |
| gnomAD - Exomes | Asian | Sub | 48978 | T=0.99961 | A=0.00039 |
| gnomAD - Exomes | American | Sub | 34570 | T=0.99783 | A=0.00217 |
| gnomAD - Exomes | African | Sub | 16256 | T=0.95300 | A=0.04700 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10070 | T=1.00000 | A=0.00000 |
| gnomAD - Exomes | Other | Sub | 6134 | T=0.9984 | A=0.0016 |
| gnomAD - Genomes | Global | Study-wide | 140232 | T=0.987022 | A=0.012978 |
| gnomAD - Genomes | European | Sub | 75944 | T=0.99986 | A=0.00014 |
| gnomAD - Genomes | African | Sub | 42028 | T=0.95915 | A=0.04085 |
| gnomAD - Genomes | American | Sub | 13660 | T=0.99510 | A=0.00490 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | T=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3130 | T=1.0000 | A=0.0000 |
| gnomAD - Genomes | Other | Sub | 2148 | T=0.9884 | A=0.0116 |
| ExAC | Global | Study-wide | 121340 | T=0.995616 | A=0.004384 |
| ExAC | Europe | Sub | 73348 | T=0.99992 | A=0.00008 |
| ExAC | Asian | Sub | 25132 | T=0.99964 | A=0.00036 |
| ExAC | American | Sub | 11548 | T=0.99896 | A=0.00104 |
| ExAC | African | Sub | 10404 | T=0.95146 | A=0.04854 |
| ExAC | Other | Sub | 908 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | Total | Global | 44606 | T=0.99922 | A=0.00078 |
| Allele Frequency Aggregator | European | Sub | 32830 | T=0.99994 | A=0.00006 |
| Allele Frequency Aggregator | Other | Sub | 7046 | T=0.9983 | A=0.0017 |
| Allele Frequency Aggregator | African | Sub | 3340 | T=0.9970 | A=0.0030 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 626 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 498 | T=0.978 | A=0.022 |
| Allele Frequency Aggregator | Asian | Sub | 168 | T=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | T=1.00 | A=0.00 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.9713 | A=0.0287 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.8998 | A=0.1002 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=1.0000 | A=0.0000 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=1.0000 | A=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=1.0000 | A=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | T=0.995 | A=0.005 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.9726 | A=0.0274 |
| 1000Genomes | African | Sub | 1322 | T=0.9002 | A=0.0998 |
| 1000Genomes | East Asian | Sub | 1008 | T=1.0000 | A=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | T=1.0000 | A=0.0000 |
| 1000Genomes | South Asian | Sub | 978 | T=1.000 | A=0.000 |
| 1000Genomes | American | Sub | 694 | T=0.993 | A=0.007 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | T=0.9983 | G=0.0017 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.9995 | G=0.0005 |
| HapMap | Global | Study-wide | 322 | T=0.960 | A=0.040 |
| HapMap | American | Sub | 118 | T=1.000 | A=0.000 |
| HapMap | African | Sub | 114 | T=0.886 | A=0.114 |
| HapMap | Asian | Sub | 90 | T=1.00 | A=0.00 |
| Qatari | Global | Study-wide | 216 | T=0.981 | A=0.019 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 92 | T=1.00 | A=0.00 |
| SGDP_PRJ | Global | Study-wide | 10 | T=0.5 | A=0.5 |
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 11 | NC_000011.10:g.5227002T>A |
| GRCh38.p14 chr 11 | NC_000011.10:g.5227002T>C |
| GRCh38.p14 chr 11 | NC_000011.10:g.5227002T>G |
| GRCh37.p13 chr 11 | NC_000011.9:g.5248232T>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.5248232T>C |
| GRCh37.p13 chr 11 | NC_000011.9:g.5248232T>G |
| HBB region RefSeqGene | NG_000007.3:g.70614A>T |
| HBB region RefSeqGene | NG_000007.3:g.70614A>G |
| HBB region RefSeqGene | NG_000007.3:g.70614A>C |
| HBB RefSeqGene (LRG_1232) | NG_059281.1:g.5070A>T |
| HBB RefSeqGene (LRG_1232) | NG_059281.1:g.5070A>G |
| HBB RefSeqGene (LRG_1232) | NG_059281.1:g.5070A>C |
| LOC107133510 genomic region | NG_046672.1:g.4937T>A |
| LOC107133510 genomic region | NG_046672.1:g.4937T>C |
| LOC107133510 genomic region | NG_046672.1:g.4937T>G |
| LOC106099062 genomic region | NG_042296.1:g.533T>A |
| LOC106099062 genomic region | NG_042296.1:g.533T>C |
| LOC106099062 genomic region | NG_042296.1:g.533T>G |
Gene: HBB, hemoglobin subunit beta
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HBB transcript | NM_000518.5:c.20A>T | E [GAG] > V [GTG] | Coding Sequence Variant |
| hemoglobin subunit beta | NP_000509.1:p.Glu7Val | E (Glu) > V (Val) | Missense Variant |
| HBB transcript | NM_000518.5:c.20A>G | E [GAG] > G [GGG] | Coding Sequence Variant |
| hemoglobin subunit beta | NP_000509.1:p.Glu7Gly | E (Glu) > G (Gly) | Missense Variant |
| HBB transcript | NM_000518.5:c.20A>C | E [GAG] > A [GCG] | Coding Sequence Variant |
| hemoglobin subunit beta | NP_000509.1:p.Glu7Ala | E (Glu) > A (Ala) | 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:
30372
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000016286.7 | HEMOGLOBIN ZIGUINCHOR | Other |
| RCV000016573.14 | HEMOGLOBIN S | Other |
| RCV000016574.54 | Hb SS disease | Pathogenic |
| RCV000016575.37 | Malaria, resistance to | Protective |
| RCV000016576.8 | HEMOGLOBIN S (ANTILLES) | Pathogenic |
| RCV000016577.8 | Sickle cell-Hemoglobin O Arab disease | Pathogenic |
| RCV000016579.8 | HEMOGLOBIN S (PROVIDENCE) | Pathogenic |
| RCV000016580.9 | HEMOGLOBIN S (TRAVIS) | Pathogenic |
| RCV000016877.8 | HEMOGLOBIN S (CAMEROON) | Pathogenic |
| RCV000016879.5 | HEMOGLOBIN JAMAICA PLAIN | Other |
| RCV000030905.6 | HEMOGLOBIN ZIGUINCHOR | Other |
| RCV000224000.29 | not provided | Pathogenic |
| RCV000477892.3 | Dominant beta-thalassemia,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Malaria, susceptibility to,beta Thalassemia | Pathogenic |
| RCV000576548.11 | beta Thalassemia | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000623118.2 | Inborn genetic diseases | Pathogenic |
| RCV000723337.4 | Fetal hemoglobin quantitative trait locus 1 | Likely-Benign |
| RCV001104054.3 | Hemoglobin E | Likely-Benign |
| RCV001192494.2 | Sickle cell disease and related diseases | Pathogenic |
| RCV001255121.2 | Anemia | Pathogenic |
| RCV001535873.2 | Dominant beta-thalassemia,Erythrocytosis, familial, 6,Fetal hemoglobin quantitative trait locus 1,Hb SS disease,Heinz body anemia,Malaria, susceptibility to,Methemoglobinemia, beta-globin type,alpha Thalassemia,beta Thalassemia | Pathogenic |
| RCV001777141.2 | not specified | Benign |
| RCV001824571.5 | HBB-Related Disorders | Pathogenic |
| RCV002251908.2 | See cases | Pathogenic |
Allele: G (allele ID:
30214
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000016352.5 | HEMOGLOBIN G (MAKASSAR) | Other |
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 | T= | A | C | G |
|---|---|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.5227002= | NC_000011.10:g.5227002T>A | NC_000011.10:g.5227002T>C | NC_000011.10:g.5227002T>G |
| GRCh37.p13 chr 11 | NC_000011.9:g.5248232= | NC_000011.9:g.5248232T>A | NC_000011.9:g.5248232T>C | NC_000011.9:g.5248232T>G |
| HBB region RefSeqGene | NG_000007.3:g.70614= | NG_000007.3:g.70614A>T | NG_000007.3:g.70614A>G | NG_000007.3:g.70614A>C |
| HBB RefSeqGene (LRG_1232) | NG_059281.1:g.5070= | NG_059281.1:g.5070A>T | NG_059281.1:g.5070A>G | NG_059281.1:g.5070A>C |
| HBB transcript | NM_000518.5:c.20= | NM_000518.5:c.20A>T | NM_000518.5:c.20A>G | NM_000518.5:c.20A>C |
| HBB transcript | NM_000518.4:c.20= | NM_000518.4:c.20A>T | NM_000518.4:c.20A>G | NM_000518.4:c.20A>C |
| LOC107133510 genomic region | NG_046672.1:g.4937= | NG_046672.1:g.4937T>A | NG_046672.1:g.4937T>C | NG_046672.1:g.4937T>G |
| LOC106099062 genomic region | NG_042296.1:g.533= | NG_042296.1:g.533T>A | NG_042296.1:g.533T>C | NG_042296.1:g.533T>G |
| hemoglobin subunit beta | NP_000509.1:p.Glu7= | NP_000509.1:p.Glu7Val | NP_000509.1:p.Glu7Gly | NP_000509.1:p.Glu7Ala |
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#.
57 SubSNP,
12 Frequency,
24 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | NCBI | ss335 | Sep 19, 2000 (36) |
| 2 | SEQUENOM | ss24811263 | Sep 20, 2004 (123) |
| 3 | APPLERA_GI | ss48419811 | Mar 13, 2006 (126) |
| 4 | MILLER_NIDDK | ss49850538 | Mar 13, 2006 (126) |
| 5 | MILLER_NIDDK | ss49850540 | Mar 13, 2006 (126) |
| 6 | MILLER_NIDDK | ss49850542 | Mar 13, 2006 (126) |
| 7 | MILLER_NIDDK | ss49850544 | Mar 13, 2006 (126) |
| 8 | MILLER_NIDDK | ss49850546 | Mar 13, 2006 (126) |
| 9 | MILLER_NIDDK | ss49850548 | Mar 13, 2006 (126) |
| 10 | MILLER_NIDDK | ss49850550 | Mar 13, 2006 (126) |
| 11 | MILLER_NIDDK | ss49850552 | Mar 13, 2006 (126) |
| 12 | MILLER_NIDDK | ss49850554 | Mar 13, 2006 (126) |
| 13 | MILLER_NIDDK | ss49850555 | Mar 13, 2006 (126) |
| 14 | MILLER_NIDDK | ss65658196 | Dec 01, 2006 (127) |
| 15 | PERLEGEN | ss69307501 | May 17, 2007 (127) |
| 16 | HBVAR | ss79088884 | Oct 02, 2012 (137) |
| 17 | HBVAR | ss79088886 | Oct 02, 2012 (137) |
| 18 | HBVAR | ss79089796 | Oct 02, 2012 (137) |
| 19 | SEATTLESEQ | ss159722269 | Dec 01, 2009 (136) |
| 20 | COMPLETE_GENOMICS | ss168938347 | Jul 04, 2010 (136) |
| 21 | RSG_UW | ss212960460 | Jul 04, 2010 (136) |
| 22 | 1000GENOMES | ss225064977 | Jul 14, 2010 (136) |
| 23 | OMIM-CURATED-RECORDS | ss263198838 | Nov 08, 2010 (136) |
| 24 | OMIM-CURATED-RECORDS | ss263198960 | Nov 08, 2010 (136) |
| 25 | NHLBI-ESP | ss342316075 | May 09, 2011 (136) |
| 26 | 1000GENOMES | ss491010799 | May 04, 2012 (136) |
| 27 | EXOME_CHIP | ss491445404 | May 04, 2012 (136) |
| 28 | CLINSEQ_SNP | ss491638176 | May 04, 2012 (136) |
| 29 | ILLUMINA | ss533576724 | Sep 08, 2015 (146) |
| 30 | JMKIDD_LAB | ss1067519460 | Aug 21, 2014 (142) |
| 31 | JMKIDD_LAB | ss1077464818 | Aug 21, 2014 (142) |
| 32 | 1000GENOMES | ss1339939582 | Aug 21, 2014 (142) |
| 33 | EVA_EXAC | ss1690220976 | Apr 01, 2015 (144) |
| 34 | ITMI | ss1776567973 | Sep 08, 2015 (146) |
| 35 | WEILL_CORNELL_DGM | ss1931523242 | Feb 12, 2016 (147) |
| 36 | HUMAN_LONGEVITY | ss2179830167 | Dec 20, 2016 (150) |
| 37 | GNOMAD | ss2738739466 | Nov 08, 2017 (151) |
| 38 | GNOMAD | ss2748543909 | Nov 08, 2017 (151) |
| 39 | GNOMAD | ss2895840074 | Nov 08, 2017 (151) |
| 40 | AFFY | ss2984931974 | Nov 08, 2017 (151) |
| 41 | ILLUMINA | ss3626587887 | Oct 12, 2018 (152) |
| 42 | ILLUMINA | ss3653703559 | Oct 12, 2018 (152) |
| 43 | KHV_HUMAN_GENOMES | ss3814235341 | Jul 13, 2019 (153) |
| 44 | EVA | ss3824585932 | Apr 26, 2020 (154) |
| 45 | SGDP_PRJ | ss3875552707 | Apr 26, 2020 (154) |
| 46 | KRGDB | ss3923775569 | Apr 26, 2020 (154) |
| 47 | KOGIC | ss3969119145 | Apr 26, 2020 (154) |
| 48 | FSA-LAB | ss3983994691 | Apr 26, 2021 (155) |
| 49 | EVA | ss3985514791 | Apr 26, 2021 (155) |
| 50 | EVA | ss3986512434 | Apr 26, 2021 (155) |
| 51 | 1000G_HIGH_COVERAGE | ss5286250469 | Oct 16, 2022 (156) |
| 52 | EVA | ss5397462506 | Oct 16, 2022 (156) |
| 53 | HUGCELL_USP | ss5481570498 | Oct 16, 2022 (156) |
| 54 | 1000G_HIGH_COVERAGE | ss5581295063 | Oct 16, 2022 (156) |
| 55 | SANFORD_IMAGENETICS | ss5650547108 | Oct 16, 2022 (156) |
| 56 | EVA | ss5918652479 | Oct 16, 2022 (156) |
| 57 | EVA | ss5941850074 | Oct 16, 2022 (156) |
| 58 | 1000Genomes | NC_000011.9 - 5248232 | Oct 12, 2018 (152) |
| 59 | 1000Genomes_30x | NC_000011.10 - 5227002 | Oct 16, 2022 (156) |
| 60 | ExAC | NC_000011.9 - 5248232 | Oct 12, 2018 (152) |
| 61 | gnomAD - Genomes | NC_000011.10 - 5227002 | Apr 26, 2021 (155) |
| 62 | gnomAD - Exomes | NC_000011.9 - 5248232 | Jul 13, 2019 (153) |
| 63 | HapMap | NC_000011.10 - 5227002 | Apr 26, 2020 (154) |
| 64 | KOREAN population from KRGDB | NC_000011.9 - 5248232 | Apr 26, 2020 (154) |
| 65 | Korean Genome Project | NC_000011.10 - 5227002 | Apr 26, 2020 (154) |
| 66 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 5248232 | Apr 26, 2021 (155) |
| 67 | Qatari | NC_000011.9 - 5248232 | Apr 26, 2020 (154) |
| 68 | SGDP_PRJ | NC_000011.9 - 5248232 | Apr 26, 2020 (154) |
| 69 | ALFA | NC_000011.10 - 5227002 | Apr 26, 2021 (155) |
| 70 | ClinVar | RCV000016286.7 | Oct 16, 2022 (156) |
| 71 | ClinVar | RCV000016352.5 | Oct 16, 2022 (156) |
| 72 | ClinVar | RCV000016573.14 | Oct 16, 2022 (156) |
| 73 | ClinVar | RCV000016574.54 | Oct 16, 2022 (156) |
| 74 | ClinVar | RCV000016575.37 | Oct 16, 2022 (156) |
| 75 | ClinVar | RCV000016576.8 | Oct 16, 2022 (156) |
| 76 | ClinVar | RCV000016577.8 | Oct 16, 2022 (156) |
| 77 | ClinVar | RCV000016579.8 | Oct 16, 2022 (156) |
| 78 | ClinVar | RCV000016580.9 | Oct 16, 2022 (156) |
| 79 | ClinVar | RCV000016877.8 | Oct 16, 2022 (156) |
| 80 | ClinVar | RCV000016879.5 | Oct 16, 2022 (156) |
| 81 | ClinVar | RCV000030905.6 | Oct 16, 2022 (156) |
| 82 | ClinVar | RCV000224000.29 | Oct 16, 2022 (156) |
| 83 | ClinVar | RCV000477892.3 | Oct 16, 2022 (156) |
| 84 | ClinVar | RCV000576548.11 | Oct 16, 2022 (156) |
| 85 | ClinVar | RCV000623118.2 | Oct 16, 2022 (156) |
| 86 | ClinVar | RCV000723337.4 | Oct 16, 2022 (156) |
| 87 | ClinVar | RCV001104054.3 | Oct 16, 2022 (156) |
| 88 | ClinVar | RCV001192494.2 | Oct 16, 2022 (156) |
| 89 | ClinVar | RCV001255121.2 | Oct 16, 2022 (156) |
| 90 | ClinVar | RCV001535873.2 | Oct 16, 2022 (156) |
| 91 | ClinVar | RCV001777141.2 | Oct 16, 2022 (156) |
| 92 | ClinVar | RCV001824571.5 | Oct 16, 2022 (156) |
| 93 | ClinVar | RCV002251908.2 | Oct 16, 2022 (156) |
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) |
|---|---|
| rs3168321 | Jul 03, 2002 (106) |
| rs34315575 | Oct 16, 2006 (127) |
| rs77121243 | Oct 09, 2012 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss168938347, ss491638176 | NC_000011.8:5204807:T:A | NC_000011.10:5227001:T:A | (self) |
| 52416096, 466252, 7946312, 740718, 13565172, 27569687, ss225064977, ss342316075, ss491010799, ss491445404, ss533576724, ss1067519460, ss1077464818, ss1339939582, ss1690220976, ss1776567973, ss1931523242, ss2738739466, ss2748543909, ss2895840074, ss2984931974, ss3626587887, ss3653703559, ss3824585932, ss3875552707, ss3983994691, ss3985514791, ss3986512434, ss5397462506, ss5650547108, ss5941850074 | NC_000011.9:5248231:T:A | NC_000011.10:5227001:T:A | (self) |
| RCV000016286.7, RCV000016573.14, RCV000016574.54, RCV000016575.37, RCV000016576.8, RCV000016577.8, RCV000016579.8, RCV000016580.9, RCV000016877.8, RCV000016879.5, RCV000030905.6, RCV000224000.29, RCV000477892.3, RCV000576548.11, RCV000623118.2, RCV000723337.4, RCV001104054.3, RCV001192494.2, RCV001255121.2, RCV001535873.2, RCV001777141.2, RCV001824571.5, RCV002251908.2, 68820998, 370114569, 538318, 13786692793, ss79088884, ss263198960, ss2179830167, ss3814235341, ss5286250469, ss5481570498, ss5581295063, ss5918652479 | NC_000011.10:5227001:T:A | NC_000011.10:5227001:T:A | (self) |
| ss335, ss24811263, ss48419811, ss49850538, ss49850540, ss49850542, ss49850544, ss49850546, ss49850548, ss49850550, ss49850552, ss49850555, ss65658196, ss69307501, ss159722269, ss212960460 | NT_009237.18:5188231:T:A | NC_000011.10:5227001:T:A | (self) |
| ss79089796 | NC_000011.10:5227001:T:C | NC_000011.10:5227001:T:C | (self) |
| 30952963, ss3923775569 | NC_000011.9:5248231:T:G | NC_000011.10:5227001:T:G | (self) |
| RCV000016352.5, 25497146, ss79088886, ss263198838, ss3969119145 | NC_000011.10:5227001:T:G | NC_000011.10:5227001:T:G | (self) |
| ss49850554 | NT_009237.18:5188231:T:G | NC_000011.10:5227001:T:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
112
citations for rs334
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 81926 | Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. | Kan YW et al. | 1978 | Lancet (London, England) |
| 893143 | Properties of the double substituted hemoglobin C Ziguinchor alpha2A beta 2 6 Glu replaced by Val 58 Pro replaced by Arg. | Hassan W et al. | 1977 | Hemoglobin |
| 909565 | Identification of a nondeletion defect in alpha-thalassemia. | Kan YW et al. | 1977 | The New England journal of medicine |
| 1225575 | Hemoglobin C Ziguinchor alphaA2 beta62 (A3) Glu leads to Val beta58 (E2) Pro leads to Arg: the second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain. | Goossens M et al. | 1975 | FEBS letters |
| 1301203 | Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. | Prezant TR et al. | 1992 | Human mutation |
| 1376298 | A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. | Lapouméroulie C et al. | 1992 | Human genetics |
| 1634360 | Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH. | Moo-Penn WF et al. | 1992 | Hemoglobin |
| 1986365 | Genetic disease detection and DNA amplification using cloned thermostable ligase. | Barany F et al. | 1991 | Proceedings of the National Academy of Sciences of the United States of America |
| 2189492 | Haemoglobin alpha 2 beta 2 23Val----Ile produced in Escherichia coli facilitates Hb S polymerization. | Pagnier J et al. | 1990 | British journal of haematology |
| 2296310 | A transgenic mouse model of sickle cell disorder. | Greaves DR et al. | 1990 | Nature |
| 2579336 | Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. | Nagel RL et al. | 1985 | The New England journal of medicine |
| 2891298 | Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. | Ramsay M et al. | 1987 | American journal of human genetics |
| 2893541 | Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. | Ragusa A et al. | 1988 | American journal of hematology |
| 2898142 | Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. | Chebloune Y et al. | 1988 | Proceedings of the National Academy of Sciences of the United States of America |
| 2898460 | Evidence of the African origin of sickle cell hemoglobin in western Sicily. | Sammarco P et al. | 1988 | Hemoglobin |
| 2930724 | A new doubly substituted sickling haemoglobin: HbS-Oman. | Langdown JV et al. | 1989 | British journal of haematology |
| 3048433 | Molecular basis and prenatal diagnosis of beta-thalassemia. | Kazazian HH Jr et al. | 1988 | Blood |
| 3191036 | Hb A-like sickle haemoglobin: Hb S-providence. | Gale RE et al. | 1988 | British journal of haematology |
| 3354556 | Sickle cell trait in a white Jewish family presenting as splenic infarction at high altitude. | Shalev O et al. | 1988 | American journal of hematology |
| 3467311 | Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. | Monplaisir N et al. | 1986 | Proceedings of the National Academy of Sciences of the United States of America |
| 3690667 | Position-independent, high-level expression of the human beta-globin gene in transgenic mice. | Grosveld F et al. | 1987 | Cell |
| 3752087 | Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. | Kulozik AE et al. | 1986 | American journal of human genetics |
| 3821796 | Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. | Embury SH et al. | 1987 | The New England journal of medicine |
| 4232783 | Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. | Serjeant GR et al. | 1968 | British medical journal |
| 5069596 | Identification of haemoglobin C Georgetown. | Lang A et al. | 1972 | Biochimica et biophysica acta |
| 5490239 | The effect of beta 73 Asn on the interactions of sickling hemoglobins. | Bookchin RM et al. | 1970 | Biochimica et biophysica acta |
| 5509617 | Hemoglobin G Makassar: beta-6 Glu leads to Ala. | Blackwell RQ et al. | 1970 | Biochimica et biophysica acta |
| 5658717 | Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. | Blackwell RW et al. | 1968 | Science (New York, N.Y.) |
| 5928902 | Hemoglobin C Harlem: a sickling variant containing amino acid substitutions in two residues of the beta-polypeptide chain. | Bookchin RM et al. | 1966 | Biochemical and biophysical research communications |
| 6166632 | Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys). | Benz EJ Jr et al. | 1981 | The Journal of clinical investigation |
| 6268660 | Sickle gene. Its origin and diffusion from West Africa. | Mears JG et al. | 1981 | The Journal of clinical investigation |
| 6272289 | Direct identification of sickle cell anemia by blot hybridization. | Geever RF et al. | 1981 | Proceedings of the National Academy of Sciences of the United States of America |
| 6280057 | Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. | Orkin SH et al. | 1982 | Nature |
| 6285354 | Use of restriction endonucleases for mapping the allele for beta s-globin. | Wilson JT et al. | 1982 | Proceedings of the National Academy of Sciences of the United States of America |
| 6583683 | Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. | Antonarakis SE et al. | 1984 | Proceedings of the National Academy of Sciences of the United States of America |
| 6584911 | Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. | Pagnier J et al. | 1984 | Proceedings of the National Academy of Sciences of the United States of America |
| 7993409 | Mortality in sickle cell disease. Life expectancy and risk factors for early death. | Platt OS et al. | 1994 | The New England journal of medicine |
| 8199597 | Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. | Zeng FY et al. | 1994 | Human mutation |
| 8462981 | Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. | Flint J et al. | 1993 | Human genetics |
| 9166865 | A transgenic mouse model of hemoglobin S Antilles disease. | Popp RA et al. | 1997 | Blood |
| 9834244 | HbS-oman heterozygote: a new dominant sickle syndrome. | Nagel RL et al. | 1998 | Blood |
| 9859938 | Hb Köln [beta98(FG5)Val-->Met]: the first case found in a Chinese family. | Chang JG et al. | 1998 | Hemoglobin |
| 10203101 | Hemoglobin S/O(Arab): thirteen new cases and review of the literature. | Zimmerman SA et al. | 1999 | American journal of hematology |
| 11741197 | Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. | Currat M et al. | 2002 | American journal of human genetics |
| 11830454 | Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. | Romero JR et al. | 2002 | Blood |
| 11880644 | Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. | Turhan A et al. | 2002 | Proceedings of the National Academy of Sciences of the United States of America |
| 12403489 | Hb G-Makassar [beta6(A3)Glu-->Ala; codon 6 (GAG-->GCG)]: molecular characterization, clinical, and hematological effects. | Viprakasit V et al. | 2002 | Hemoglobin |
| 13066514 | Further studies on hemoglobin C. I. A description of three additional families segregating for hemoglobin C and sickle cell hemoglobin. | NEEL JV et al. | 1953 | Blood |
| 13115700 | Protection afforded by sickle-cell trait against subtertian malareal infection. | ALLISON AC et al. | 1954 | British medical journal |
| 13369537 | A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. | INGRAM VM et al. | 1956 | Nature |
| 13464827 | Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. | INGRAM VM et al. | 1957 | Nature |
| 13852872 | Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins. | INGRAM VM et al. | 1959 | Biochimica et biophysica acta |
| 13943409 | A new hemoglobin variant with sickling properties. | PIERCE LE et al. | 1963 | The New England journal of medicine |
| 15182055 | A new variant with two amino acid substitutions: Hb S-Cameroon [beta6(A3)Glu-->Val;beta90(F6)Glu-->Lys]. | Bundgaard JR et al. | 2004 | Hemoglobin |
| 15395398 | Sickle cell anemia a molecular disease. | PAULING L et al. | 1949 | Science (New York, N.Y.) |
| 15470216 | Hemoglobin Jamaica plain--a sickling hemoglobin with reduced oxygen affinity. | Geva A et al. | 2004 | The New England journal of medicine |
| 16001361 | How malaria has affected the human genome and what human genetics can teach us about malaria. | Kwiatkowski DP et al. | 2005 | American journal of human genetics |
| 17287491 | Elderly survivors with homozygous sickle cell disease. | Serjeant GR et al. | 2007 | The New England journal of medicine |
| 17668374 | Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants. | Ayodo G et al. | 2007 | American journal of human genetics |
| 17688704 | Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations. | Hanchard N et al. | 2007 | BMC genetics |
| 18048408 | Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. | Modiano D et al. | 2008 | Human molecular genetics |
| 18192399 | Impaired cytoadherence of Plasmodium falciparum-infected erythrocytes containing sickle hemoglobin. | Cholera R et al. | 2008 | Proceedings of the National Academy of Sciences of the United States of America |
| 18829352 | High-density SNP genotyping to define beta-globin locus haplotypes. | Liu L et al. | 2009 | Blood cells, molecules & diseases |
| 19039607 | A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility. | Diakite M et al. | 2009 | Human genetics |
| 19145247 | Lack of association of interferon regulatory factor 1 with severe malaria in affected child-parental trio studies across three African populations. | Mangano VD et al. | 2009 | 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 |
| 19281305 | Tumor necrosis factor and lymphotoxin-alpha polymorphisms and severe malaria in African populations. | Clark TG et al. | 2009 | The Journal of infectious diseases |
| 19465909 | Genome-wide and fine-resolution association analysis of malaria in West Africa. | Jallow M et al. | 2009 | Nature genetics |
| 20128890 | Loss of balancing selection in the betaS globin locus. | Salih NA et al. | 2010 | BMC medical genetics |
| 20226094 | Myosin individualized: single nucleotide polymorphisms in energy transduction. | Burghardt TP et al. | 2010 | BMC genomics |
| 20305663 | Genetic variation in human HBB is associated with Plasmodium falciparum transmission. | Gouagna LC et al. | 2010 | Nature genetics |
| 20552021 | Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children. | Savy M et al. | 2010 | PloS one |
| 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 |
| 20585394 | Transforming growth factor beta 2 and heme oxygenase 1 genes are risk factors for the cerebral malaria syndrome in Angolan children. | Sambo MR et al. | 2010 | PloS one |
| 21529713 | Sickle hemoglobin confers tolerance to Plasmodium infection. | Ferreira A et al. | 2011 | Cell |
| 21867552 | Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites. | Diakite M et al. | 2011 | Malaria journal |
| 21992066 | Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers. | Thomas PE et al. | 2011 | BMC bioinformatics |
| 22075726 | Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. | Cyrklaff M et al. | 2011 | Science (New York, N.Y.) |
| 22615793 | Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population. | da Silva Santos S et al. | 2012 | PloS one |
| 22905743 | Genetic polymorphisms associated with anti-malarial antibody levels in a low and unstable malaria transmission area in southern Sri Lanka. | Dewasurendra RL et al. | 2012 | Malaria journal |
| 22947458 | Malaria resistance genes are associated with the levels of IgG subclasses directed against Plasmodium falciparum blood-stage antigens in Burkina Faso. | Afridi S et al. | 2012 | Malaria journal |
| 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 |
| 23316245 | The host genetic diversity in malaria infection. | de Mendonça VR et al. | 2012 | Journal of tropical medicine |
| 24592274 | Genomic architecture of sickle cell disease in West African children. | Quinlan J et al. | 2014 | Frontiers in genetics |
| 24626632 | Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage. | Barfield WL et al. | 2014 | Human molecular genetics |
| 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 |
| 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 |
| 26215182 | The influence of host genetics on erythrocytes and malaria infection: is there therapeutic potential? | Lelliott PM et al. | 2015 | Malaria journal |
| 26314886 | Genetic determinants of anti-malarial acquired immunity in a large multi-centre study. | Shelton JM et al. | 2015 | Malaria journal |
| 26744416 | Environmental Correlation Analysis for Genes Associated with Protection against Malaria. | Mackinnon MJ et al. | 2016 | Molecular biology and evolution |
| 27022141 | Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. | Liu L et al. | 2016 | Experimental biology and medicine (Maywood, N.J.) |
| 27185208 | Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia. | Vathipadiekal V et al. | 2016 | American journal of hematology |
| 27219052 | Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences. | Fujikura K et al. | 2016 | PloS one |
| 27236921 | Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children. | Rautanen A et al. | 2016 | American journal of human genetics |
| 27351925 | Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations. | Chassanidis C et al. | 2016 | PloS one |
| 28067620 | Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia. | Clarke GM et al. | 2017 | eLife |
| 28912365 | D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study. | Raffield LM et al. | 2017 | Arteriosclerosis, thrombosis, and vascular biology |
| 29526279 | Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase. | Shriner D et al. | 2018 | American journal of human genetics |
| 31080455 | Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits. | Fatumo S et al. | 2019 | Frontiers in 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 |
| 31448710 | Frequency of Interleukins IL1ß/IL18 and Inflammasome NLRP1/NLRP3 Polymorphisms in Sickle Cell Anemia Patients and their Association with Severity Score. | de Almeida E et al. | 2019 | Current molecular medicine |
| 31675503 | Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. | Gurdasani D et al. | 2019 | Cell |
| 31941490 | Associations between red blood cell variants and malaria among children and adults from three areas of Uganda: a prospective cohort study. | Kakande E et al. | 2020 | Malaria journal |
| 32641076 | Exome sequencing for diagnosis of congenital hemolytic anemia. | Mansour-Hendili L et al. | 2020 | Orphanet journal of rare diseases |
| 33357513 | Host genetic effects in pneumonia. | Chen HH et al. | 2021 | American journal of human genetics |
| 33399855 | Association of Sickle Cell Trait With Incidence of Coronary Heart Disease Among African American Individuals. | Hyacinth HI et al. | 2021 | JAMA network open |
| 33857205 | Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT. | Zhuo X et al. | 2021 | PloS one |
| 34090531 | Genome-based therapeutic interventions for β-type hemoglobinopathies. | Karamperis K et al. | 2021 | Human genomics |
| 35811813 | G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria. | Thiam F et al. | 2022 | PeerJ |
| 35934714 | Risk score prediction model based on single nucleotide polymorphism for predicting malaria: a machine learning approach. | Tai KY et al. | 2022 | BMC bioinformatics |
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.