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.
rs6467
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:32039081 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.364135 (96383/264690, TOPMED)C=0.43858 (24207/55194, ALFA)C=0.37065 (4817/12996, GO-ESP) (+ 9 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP21A2 : Intron Variant
- Publications
- 18 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 | 55194 | C=0.43858 | A=0.56082, G=0.00060, T=0.00000 | 0.211181 | 0.333333 | 0.455485 | 32 |
| European | Sub | 47554 | C=0.43918 | A=0.56018, G=0.00063, T=0.00000 | 0.210511 | 0.331452 | 0.458037 | 32 |
| African | Sub | 2378 | C=0.4765 | A=0.5235, G=0.0000, T=0.0000 | 0.28259 | 0.329689 | 0.387721 | 31 |
| African Others | Sub | 42 | C=0.40 | A=0.60, G=0.00, T=0.00 | 0.238095 | 0.428571 | 0.333333 | 1 |
| African American | Sub | 2336 | C=0.4777 | A=0.5223, G=0.0000, T=0.0000 | 0.28339 | 0.327911 | 0.388699 | 30 |
| Asian | Sub | 84 | C=0.40 | A=0.60, G=0.00, T=0.00 | 0.238095 | 0.428571 | 0.333333 | 3 |
| East Asian | Sub | 46 | C=0.39 | A=0.61, G=0.00, T=0.00 | 0.217391 | 0.434783 | 0.347826 | 1 |
| Other Asian | Sub | 38 | C=0.42 | A=0.58, G=0.00, T=0.00 | 0.263158 | 0.421053 | 0.315789 | 2 |
| Latin American 1 | Sub | 30 | C=0.73 | A=0.27, G=0.00, T=0.00 | 0.6 | 0.133333 | 0.266667 | 1 |
| Latin American 2 | Sub | 92 | C=0.61 | A=0.39, G=0.00, T=0.00 | 0.5 | 0.282609 | 0.217391 | 8 |
| South Asian | Sub | 26 | C=0.69 | A=0.31, G=0.00, T=0.00 | 0.461538 | 0.076923 | 0.461538 | 0 |
| Other | Sub | 5030 | C=0.4093 | A=0.5901, G=0.0006, T=0.0000 | 0.174363 | 0.354697 | 0.470939 | 1 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.364135 | A=0.635865 |
| Allele Frequency Aggregator | Total | Global | 55194 | C=0.43858 | A=0.56082, G=0.00060, T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 47554 | C=0.43918 | A=0.56018, G=0.00063, T=0.00000 |
| Allele Frequency Aggregator | Other | Sub | 5030 | C=0.4093 | A=0.5901, G=0.0006, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2378 | C=0.4765 | A=0.5235, G=0.0000, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 92 | C=0.61 | A=0.39, G=0.00, T=0.00 |
| Allele Frequency Aggregator | Asian | Sub | 84 | C=0.40 | A=0.60, G=0.00, T=0.00 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 30 | C=0.73 | A=0.27, G=0.00, T=0.00 |
| Allele Frequency Aggregator | South Asian | Sub | 26 | C=0.69 | A=0.31, G=0.00, T=0.00 |
| GO Exome Sequencing Project | Global | Study-wide | 12996 | C=0.37065 | A=0.62935 |
| GO Exome Sequencing Project | European American | Sub | 8598 | C=0.3840 | A=0.6160 |
| GO Exome Sequencing Project | African American | Sub | 4398 | C=0.3445 | A=0.6555 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.3535 | A=0.6455, G=0.0009 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.3443 | A=0.6557, G=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.4036 | A=0.5948, G=0.0016 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.3985 | A=0.6007, G=0.0008 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.3504 | A=0.6487, G=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | C=0.254 | A=0.744, G=0.002 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.3482 | A=0.6508, G=0.0010 |
| 1000Genomes | African | Sub | 1322 | C=0.3411 | A=0.6589, G=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.3423 | A=0.6567, G=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | C=0.3996 | A=0.5984, G=0.0020 |
| 1000Genomes | South Asian | Sub | 978 | C=0.397 | A=0.602, G=0.001 |
| 1000Genomes | American | Sub | 694 | C=0.228 | A=0.771, G=0.001 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | C=0.3446 | A=0.6530, G=0.0024 |
| HapMap | Global | Study-wide | 800 | C=0.325 | A=0.675 |
| HapMap | African | Sub | 394 | C=0.322 | A=0.678 |
| HapMap | Asian | Sub | 244 | C=0.324 | A=0.676 |
| HapMap | American | Sub | 162 | C=0.333 | A=0.667 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.423 | A=0.577 |
| SGDP_PRJ | Global | Study-wide | 464 | C=0.280 | A=0.720 |
| Qatari | Global | Study-wide | 216 | C=0.403 | A=0.597 |
| Siberian | Global | Study-wide | 44 | C=0.25 | A=0.73, G=0.02 |
| Korean Genome Project | KOREAN | Study-wide | 10 | C=0.8 | A=0.2 |
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 6 | NC_000006.12:g.32039081C>A |
| GRCh38.p14 chr 6 | NC_000006.12:g.32039081C>G |
| GRCh38.p14 chr 6 | NC_000006.12:g.32039081C>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.32006858C>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.32006858C>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.32006858C>T |
| CYP21A2 RefSeqGene (LRG_829) | NG_007941.3:g.5777C>A |
| CYP21A2 RefSeqGene (LRG_829) | NG_007941.3:g.5777C>G |
| CYP21A2 RefSeqGene (LRG_829) | NG_007941.3:g.5777C>T |
| LOC106780800 genomic region | NG_045215.1:g.1310C>A |
| LOC106780800 genomic region | NG_045215.1:g.1310C>G |
| LOC106780800 genomic region | NG_045215.1:g.1310C>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3477403C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3477403C>G |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3477403C>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3477509C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3477509C>G |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3477509C>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3280489A>C |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3280489A>G |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3280489A>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3286074A>C |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3286074A>G |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3286074A>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3340268A>C |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3340268A>G |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3340268A>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3339566A>C |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3339566A>G |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3339566A>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3381114C>A |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3381114C>G |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3381114C>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3386699C>A |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3386699C>G |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3386699C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP21A2 transcript variant 1 | NM_000500.9:c.293-13C>A | N/A | Intron Variant |
| CYP21A2 transcript variant 2 | NM_001128590.4:c.203-13C>A | N/A | Intron Variant |
| CYP21A2 transcript variant 4 | NM_001368144.2:c.-126= | N/A | 5 Prime UTR Variant |
| CYP21A2 transcript variant 3 | NM_001368143.2:c.-126= | N/A | 5 Prime UTR 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 |
|---|---|---|
| RCV000177075.5 | not specified | Benign |
| RCV001253607.4 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Conflicting-Interpretations-Of-Pathogenicity |
| RCV001657953.5 | not provided | Benign |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000012939.21 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000624227.1 | Inborn genetic diseases | Pathogenic |
| RCV000711376.10 | not provided | Pathogenic |
| RCV001263256.1 | Adrenal hyperplasia | Pathogenic |
| RCV002227033.1 | Abnormality of the female genitalia | Pathogenic |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000502480.1 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Not-Provided |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.32039081= | NC_000006.12:g.32039081C>A | NC_000006.12:g.32039081C>G | NC_000006.12:g.32039081C>T |
| GRCh37.p13 chr 6 | NC_000006.11:g.32006858= | NC_000006.11:g.32006858C>A | NC_000006.11:g.32006858C>G | NC_000006.11:g.32006858C>T |
| CYP21A2 RefSeqGene (LRG_829) | NG_007941.3:g.5777= | NG_007941.3:g.5777C>A | NG_007941.3:g.5777C>G | NG_007941.3:g.5777C>T |
| CYP21A2 transcript variant 3 | NM_001368143.2:c.-126= | NM_001368143.2:c.-126C>A | NM_001368143.2:c.-126C>G | NM_001368143.2:c.-126C>T |
| CYP21A2 transcript variant 3 | NM_001368143.1:c.-126= | NM_001368143.1:c.-126C>A | NM_001368143.1:c.-126C>G | NM_001368143.1:c.-126C>T |
| CYP21A2 transcript variant 4 | NM_001368144.2:c.-126= | NM_001368144.2:c.-126C>A | NM_001368144.2:c.-126C>G | NM_001368144.2:c.-126C>T |
| CYP21A2 transcript variant 4 | NM_001368144.1:c.-126= | NM_001368144.1:c.-126C>A | NM_001368144.1:c.-126C>G | NM_001368144.1:c.-126C>T |
| LOC106780800 genomic region | NG_045215.1:g.1310= | NG_045215.1:g.1310C>A | NG_045215.1:g.1310C>G | NG_045215.1:g.1310C>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.3:g.3477403= | NT_113891.3:g.3477403C>A | NT_113891.3:g.3477403C>G | NT_113891.3:g.3477403C>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 | NT_113891.2:g.3477509= | NT_113891.2:g.3477509C>A | NT_113891.2:g.3477509C>G | NT_113891.2:g.3477509C>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.2:g.3280489A>C | NT_167245.2:g.3280489= | NT_167245.2:g.3280489A>G | NT_167245.2:g.3280489A>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 | NT_167245.1:g.3286074A>C | NT_167245.1:g.3286074= | NT_167245.1:g.3286074A>G | NT_167245.1:g.3286074A>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.2:g.3340268A>C | NT_167249.2:g.3340268= | NT_167249.2:g.3340268A>G | NT_167249.2:g.3340268A>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 | NT_167249.1:g.3339566A>C | NT_167249.1:g.3339566= | NT_167249.1:g.3339566A>G | NT_167249.1:g.3339566A>T |
| GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.2:g.3381114= | NT_167247.2:g.3381114C>A | NT_167247.2:g.3381114C>G | NT_167247.2:g.3381114C>T |
| GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 | NT_167247.1:g.3386699= | NT_167247.1:g.3386699C>A | NT_167247.1:g.3386699C>G | NT_167247.1:g.3386699C>T |
| CYP21A2 transcript variant 1 | NM_000500.7:c.293-13= | NM_000500.7:c.293-13C>A | NM_000500.7:c.293-13C>G | NM_000500.7:c.293-13C>T |
| CYP21A2 transcript variant 1 | NM_000500.9:c.293-13= | NM_000500.9:c.293-13C>A | NM_000500.9:c.293-13C>G | NM_000500.9:c.293-13C>T |
| CYP21A2 transcript variant 2 | NM_001128590.3:c.203-13= | NM_001128590.3:c.203-13C>A | NM_001128590.3:c.203-13C>G | NM_001128590.3:c.203-13C>T |
| CYP21A2 transcript variant 2 | NM_001128590.4:c.203-13= | NM_001128590.4:c.203-13C>A | NM_001128590.4:c.203-13C>G | NM_001128590.4:c.203-13C>T |
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 | WIAF-CSNP | ss8118 | Sep 19, 2000 (52) |
| 2 | SC_JCM | ss461502 | Jul 16, 2000 (80) |
| 3 | SC_JCM | ss3876798 | Sep 28, 2001 (100) |
| 4 | SI_MHC_SNP | ss35035211 | May 24, 2005 (125) |
| 5 | SSAHASNP | ss35239826 | May 24, 2005 (125) |
| 6 | ILLUMINA | ss75304316 | Dec 06, 2007 (129) |
| 7 | HGSV | ss84858574 | Dec 15, 2007 (130) |
| 8 | HGSV | ss85797791 | Dec 15, 2007 (130) |
| 9 | HGSV | ss86025457 | Dec 15, 2007 (130) |
| 10 | HGSV | ss86025773 | Dec 15, 2007 (130) |
| 11 | BCMHGSC_JDW | ss93436920 | Mar 24, 2008 (129) |
| 12 | HUMANGENOME_JCVI | ss98379995 | Feb 06, 2009 (130) |
| 13 | BGI | ss104297031 | Feb 13, 2009 (130) |
| 14 | 1000GENOMES | ss109902900 | Feb 13, 2009 (130) |
| 15 | ILLUMINA-UK | ss116395660 | Feb 14, 2009 (130) |
| 16 | KRIBB_YJKIM | ss119337850 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss123395318 | Dec 01, 2009 (131) |
| 18 | ENSEMBL | ss133671536 | Dec 01, 2009 (131) |
| 19 | ENSEMBL | ss139389034 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss154361385 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss160776728 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss172127722 | Jul 04, 2010 (135) |
| 23 | ILLUMINA | ss174009330 | Jul 04, 2010 (135) |
| 24 | BUSHMAN | ss201628640 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss222305080 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss233400089 | Jul 14, 2010 (132) |
| 27 | 1000GENOMES | ss240470635 | Jul 15, 2010 (132) |
| 28 | GMI | ss278728123 | May 04, 2012 (137) |
| 29 | GMI | ss285374437 | Apr 25, 2013 (138) |
| 30 | PJP | ss293826446 | May 09, 2011 (137) |
| 31 | ILLUMINA | ss481250769 | May 04, 2012 (137) |
| 32 | ILLUMINA | ss481274914 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss482260120 | Sep 08, 2015 (146) |
| 34 | ILLUMINA | ss485420760 | May 04, 2012 (137) |
| 35 | 1000GENOMES | ss490922667 | May 04, 2012 (137) |
| 36 | CLINSEQ_SNP | ss491885825 | May 04, 2012 (137) |
| 37 | SSMP | ss653037484 | Apr 25, 2013 (138) |
| 38 | NHLBI-ESP | ss712700846 | Apr 25, 2013 (138) |
| 39 | ILLUMINA | ss783155812 | Aug 21, 2014 (142) |
| 40 | ILLUMINA | ss825671160 | Apr 01, 2015 (144) |
| 41 | ILLUMINA | ss832415101 | Apr 01, 2015 (144) |
| 42 | OMIM-CURATED-RECORDS | ss836188745 | Oct 23, 2013 (136) |
| 43 | EVA-GONL | ss982769407 | Aug 21, 2014 (142) |
| 44 | JMKIDD_LAB | ss1073507645 | Aug 21, 2014 (142) |
| 45 | 1000GENOMES | ss1319569150 | Aug 21, 2014 (142) |
| 46 | 1000GENOMES | ss1319569151 | Aug 21, 2014 (142) |
| 47 | EVA_UK10K_ALSPAC | ss1615283282 | Apr 01, 2015 (144) |
| 48 | EVA_UK10K_ALSPAC | ss1615283283 | Apr 01, 2015 (144) |
| 49 | EVA_UK10K_TWINSUK | ss1658277315 | Apr 01, 2015 (144) |
| 50 | EVA_UK10K_TWINSUK | ss1658277316 | Apr 01, 2015 (144) |
| 51 | EVA_EXAC | ss1688248004 | Apr 01, 2015 (144) |
| 52 | EVA_EXAC | ss1688248005 | Apr 01, 2015 (144) |
| 53 | EVA_MGP | ss1711122079 | Apr 01, 2015 (144) |
| 54 | ILLUMINA | ss1752629804 | Sep 08, 2015 (146) |
| 55 | HAMMER_LAB | ss1804359207 | Sep 08, 2015 (146) |
| 56 | WEILL_CORNELL_DGM | ss1926021505 | Feb 12, 2016 (147) |
| 57 | JJLAB | ss2023644099 | Sep 14, 2016 (149) |
| 58 | USC_VALOUEV | ss2151810947 | Dec 20, 2016 (150) |
| 59 | ILLUMINA | ss2634431018 | Nov 08, 2017 (151) |
| 60 | GRF | ss2707404768 | Nov 08, 2017 (151) |
| 61 | GNOMAD | ss2735676377 | Nov 08, 2017 (151) |
| 62 | GNOMAD | ss2747589492 | Nov 08, 2017 (151) |
| 63 | SWEGEN | ss2998801745 | Nov 08, 2017 (151) |
| 64 | SWEGEN | ss2998801746 | Nov 08, 2017 (151) |
| 65 | BIOINF_KMB_FNS_UNIBA | ss3025608976 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss3634138422 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3635058141 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3636779131 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3637572210 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3638620690 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3640765440 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3643562176 | Oct 12, 2018 (152) |
| 73 | OMUKHERJEE_ADBS | ss3646335441 | Oct 12, 2018 (152) |
| 74 | URBANLAB | ss3648310658 | Oct 12, 2018 (152) |
| 75 | EVA_DECODE | ss3716914890 | Jul 13, 2019 (153) |
| 76 | EVA_DECODE | ss3716914891 | Jul 13, 2019 (153) |
| 77 | ILLUMINA | ss3745358132 | Jul 13, 2019 (153) |
| 78 | EVA | ss3764826543 | Jul 13, 2019 (153) |
| 79 | ILLUMINA | ss3772851808 | Jul 13, 2019 (153) |
| 80 | PACBIO | ss3785426403 | Jul 13, 2019 (153) |
| 81 | PACBIO | ss3790785591 | Jul 13, 2019 (153) |
| 82 | PACBIO | ss3795663106 | Jul 13, 2019 (153) |
| 83 | KHV_HUMAN_GENOMES | ss3807981304 | Jul 13, 2019 (153) |
| 84 | KHV_HUMAN_GENOMES | ss3807981305 | Jul 13, 2019 (153) |
| 85 | EVA | ss3824173125 | Apr 26, 2020 (154) |
| 86 | EVA | ss3829834411 | Apr 26, 2020 (154) |
| 87 | EVA | ss3838395376 | Apr 26, 2020 (154) |
| 88 | EVA | ss3843837542 | Apr 26, 2020 (154) |
| 89 | SGDP_PRJ | ss3864261278 | Apr 26, 2020 (154) |
| 90 | KRGDB | ss3911037948 | Apr 26, 2020 (154) |
| 91 | KOGIC | ss3958755995 | Apr 26, 2020 (154) |
| 92 | FSA-LAB | ss3984333438 | Apr 26, 2021 (155) |
| 93 | TOPMED | ss4698483514 | Apr 26, 2021 (155) |
| 94 | TOMMO_GENOMICS | ss5176851301 | Apr 26, 2021 (155) |
| 95 | TOMMO_GENOMICS | ss5176851302 | Apr 26, 2021 (155) |
| 96 | EVA | ss5237022677 | Apr 26, 2021 (155) |
| 97 | EVA | ss5237022678 | Apr 26, 2021 (155) |
| 98 | EVA | ss5237190660 | Apr 26, 2021 (155) |
| 99 | 1000G_HIGH_COVERAGE | ss5267946911 | Oct 17, 2022 (156) |
| 100 | 1000G_HIGH_COVERAGE | ss5267946912 | Oct 17, 2022 (156) |
| 101 | HUGCELL_USP | ss5465679271 | Oct 17, 2022 (156) |
| 102 | 1000G_HIGH_COVERAGE | ss5553607530 | Oct 17, 2022 (156) |
| 103 | EVA | ss5623935827 | Oct 17, 2022 (156) |
| 104 | SANFORD_IMAGENETICS | ss5640095276 | Oct 17, 2022 (156) |
| 105 | TOMMO_GENOMICS | ss5714711384 | Oct 17, 2022 (156) |
| 106 | TOMMO_GENOMICS | ss5714711385 | Oct 17, 2022 (156) |
| 107 | EVA | ss5799402874 | Oct 17, 2022 (156) |
| 108 | EVA | ss5800055706 | Oct 17, 2022 (156) |
| 109 | EVA | ss5800129226 | Oct 17, 2022 (156) |
| 110 | YY_MCH | ss5807310811 | Oct 17, 2022 (156) |
| 111 | EVA | ss5842031739 | Oct 17, 2022 (156) |
| 112 | EVA | ss5848652178 | Oct 17, 2022 (156) |
| 113 | EVA | ss5855285302 | Oct 17, 2022 (156) |
| 114 | EVA | ss5936530821 | Oct 17, 2022 (156) |
| 115 | EVA | ss5968597172 | Oct 17, 2022 (156) |
| 116 | EVA | ss5980356987 | Oct 17, 2022 (156) |
| 117 | 1000Genomes | NC_000006.11 - 32006858 | Oct 12, 2018 (152) |
| 118 | 1000Genomes_30x | NC_000006.12 - 32039081 | Oct 17, 2022 (156) |
| 119 |
The Avon Longitudinal Study of Parents and Children
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 120 |
The Avon Longitudinal Study of Parents and Children
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 121 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 122 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 123 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 124 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 125 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 126 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 127 | GO Exome Sequencing Project | NC_000006.11 - 32006858 | Oct 12, 2018 (152) |
| 128 | HapMap | NC_000006.12 - 32039081 | Apr 26, 2020 (154) |
| 129 | KOREAN population from KRGDB | NC_000006.11 - 32006858 | Apr 26, 2020 (154) |
| 130 | Korean Genome Project | NC_000006.12 - 32039081 | Apr 26, 2020 (154) |
| 131 | Medical Genome Project healthy controls from Spanish population | NC_000006.11 - 32006858 | Apr 26, 2020 (154) |
| 132 | Qatari | NC_000006.11 - 32006858 | Apr 26, 2020 (154) |
| 133 | SGDP_PRJ | NC_000006.11 - 32006858 | Apr 26, 2020 (154) |
| 134 | Siberian | NC_000006.11 - 32006858 | Apr 26, 2020 (154) |
| 135 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 136 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 137 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 17, 2022 (156) |
| 138 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 17, 2022 (156) |
| 139 | TopMed | NC_000006.12 - 32039081 | Apr 26, 2021 (155) |
| 140 |
UK 10K study - Twins
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 141 |
UK 10K study - Twins
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 142 | ALFA | NC_000006.12 - 32039081 | Apr 26, 2021 (155) |
| 143 | ClinVar | RCV000012939.21 | Oct 17, 2022 (156) |
| 144 | ClinVar | RCV000177075.5 | Oct 17, 2022 (156) |
| 145 | ClinVar | RCV000502480.1 | Oct 12, 2018 (152) |
| 146 | ClinVar | RCV000624227.1 | Oct 12, 2018 (152) |
| 147 | ClinVar | RCV000711376.10 | Oct 17, 2022 (156) |
| 148 | ClinVar | RCV001253607.4 | Oct 17, 2022 (156) |
| 149 | ClinVar | RCV001263256.1 | Apr 26, 2021 (155) |
| 150 | ClinVar | RCV001657953.5 | Oct 17, 2022 (156) |
| 151 | ClinVar | RCV002227033.1 | Oct 17, 2022 (156) |
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) |
|---|---|
| rs60317198 | May 25, 2008 (130) |
| rs112835082 | Sep 17, 2011 (135) |
| rs114010652 | Oct 26, 2010 (133) |
| rs117228257 | Aug 16, 2010 (132) |
| rs150107760 | May 04, 2012 (137) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss35239826, ss84858574, ss85797791, ss86025457, ss86025773 | NC_000006.9:32114836:C:A | NC_000006.12:32039080:C:A | (self) |
| ss93436920, ss109902900, ss116395660, ss201628640, ss278728123, ss285374437, ss293826446, ss481250769, ss491885825, ss825671160, ss3643562176 | NC_000006.10:32114836:C:A | NC_000006.12:32039080:C:A | (self) |
| 31337016, 631163, 18215342, 237839, 8063435, 16278258, 4327301, ss222305080, ss233400089, ss240470635, ss481274914, ss482260120, ss485420760, ss490922667, ss653037484, ss712700846, ss783155812, ss832415101, ss982769407, ss1073507645, ss1319569150, ss1615283282, ss1658277315, ss1688248004, ss1711122079, ss1752629804, ss1804359207, ss1926021505, ss2023644099, ss2151810947, ss2634431018, ss2707404768, ss2735676377, ss2747589492, ss2998801745, ss3634138422, ss3635058141, ss3636779131, ss3637572210, ss3638620690, ss3640765440, ss3646335441, ss3745358132, ss3764826543, ss3772851808, ss3785426403, ss3790785591, ss3795663106, ss3824173125, ss3829834411, ss3838395376, ss3864261278, ss3911037948, ss3984333438, ss5176851301, ss5623935827, ss5640095276, ss5799402874, ss5800055706, ss5800129226, ss5842031739, ss5848652178, ss5936530821, ss5968597172, ss5980356987 | NC_000006.11:32006857:C:A | NC_000006.12:32039080:C:A | (self) |
| RCV000177075.5, RCV001253607.4, RCV001657953.5, 41133465, 3100929, 15133996, 535861072, 4100103649, ss3025608976, ss3648310658, ss3716914890, ss3807981305, ss3843837542, ss3958755995, ss4698483514, ss5237022677, ss5237190660, ss5267946911, ss5465679271, ss5553607530, ss5714711384, ss5807310811, ss5855285302 | NC_000006.12:32039080:C:A | NC_000006.12:32039080:C:A | (self) |
| ss8118, ss461502, ss3876798, ss35035211, ss75304316, ss98379995, ss104297031, ss119337850, ss123395318, ss133671536, ss139389034, ss154361385, ss160776728, ss172127722, ss174009330 | NT_007592.15:31946857:C:A | NC_000006.12:32039080:C:A | (self) |
| 31337016, 18215342, 4327301, ss1319569151, ss1615283283, ss1658277316, ss1688248005, ss2151810947, ss2735676377, ss2747589492, ss2998801746, ss3911037948, ss5176851302, ss5799402874 | NC_000006.11:32006857:C:G | NC_000006.12:32039080:C:G | (self) |
| RCV000012939.21, RCV000624227.1, RCV000711376.10, RCV001263256.1, RCV002227033.1, 41133465, 4100103649, ss836188745, ss3716914891, ss3807981304, ss5237022678, ss5267946912, ss5553607530, ss5714711385 | NC_000006.12:32039080:C:G | NC_000006.12:32039080:C:G | (self) |
| ss8118, ss119337850 | NT_007592.15:31946857:C:G | NC_000006.12:32039080:C:G | (self) |
| RCV000502480.1, 4100103649 | NC_000006.12:32039080:C:T | NC_000006.12:32039080:C:T | (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 |
|---|---|---|---|---|
| 1644925 | Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Speiser PW et al. | 1992 | The Journal of clinical investigation |
| 1985465 | Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. | Mornet E et al. | 1991 | American journal of human genetics |
| 2325662 | Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. | Owerbach D et al. | 1990 | Molecular endocrinology (Baltimore, Md.) |
| 2845408 | Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. | Higashi Y et al. | 1988 | Proceedings of the National Academy of Sciences of the United States of America |
| 5804199 | An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo. | Hirschfeld AJ et al. | 1969 | The Journal of pediatrics |
| 7096533 | A pilot newborn screening for congenital adrenal hyperplasia in Alaska. | Pang S et al. | 1982 | The Journal of clinical endocrinology and metabolism |
| 7635470 | Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. | Ezquieta B et al. | 1995 | Human genetics |
| 8081391 | Mutations in steroid 21-hydroxylase (CYP21). | White PC et al. | 1994 | Human mutation |
| 8968761 | Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. | Day DJ et al. | 1996 | Human molecular genetics |
| 12788880 | Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency. | Lee HH et al. | 2003 | The Journal of clinical endocrinology and metabolism |
| 12915679 | CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. | Stikkelbroeck NM et al. | 2003 | The Journal of clinical endocrinology and metabolism |
| 19654554 | The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma. | Aissani B et al. | 2009 | Journal of acquired immune deficiency syndromes (1999) |
| 20301350 | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. | Nimkarn S et al. | 1993 | GeneReviews(®) |
| 25249698 | CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles. | Brønstad I et al. | 2014 | European journal of endocrinology |
| 25630015 | A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia. | Mohamed S et al. | 2015 | Saudi medical 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 |
| 28819757 | Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia. | Prado MJ et al. | 2017 | Molecular diagnosis & therapy |
| 31026237 | Increasing Levels of Serum Heat Shock Protein 70 Precede the Development of AIDS-Defining Non-Hodgkin Lymphoma Among Carriers of HLA-B8-DR3. | Aissani B et al. | 2019 | Journal of acquired immune deficiency syndromes (1999) |
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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Help
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.