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.
rs1778703
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:148867658 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.50000 (8380/16760, 8.3KJPN)A=0.50000 (8380/16760, 8.3KJPN)G=0.5000 (2235/4470, ALFA) (+ 9 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
PDE4DIP : Intron VariantLOC112268272 : Non Coding Transcript Variant
- Publications
- 0 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 |
|---|---|---|---|---|
| Total | Global | 4470 | G=0.5000 | A=0.5000 |
| European | Sub | 4462 | G=0.5000 | A=0.5000 |
| African | Sub | 0 | G=0 | A=0 |
| African Others | Sub | 0 | G=0 | A=0 |
| African American | Sub | 0 | G=0 | A=0 |
| Asian | Sub | 0 | G=0 | A=0 |
| East Asian | Sub | 0 | G=0 | A=0 |
| Other Asian | Sub | 0 | G=0 | A=0 |
| Latin American 1 | Sub | 0 | G=0 | A=0 |
| Latin American 2 | Sub | 0 | G=0 | A=0 |
| South Asian | Sub | 0 | G=0 | A=0 |
| Other | Sub | 8 | G=0.5 | A=0.5 |
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 |
|---|---|---|---|---|---|
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.50000 | A=0.50000 |
| Allele Frequency Aggregator | Total | Global | 4470 | G=0.5000 | A=0.5000 |
| Allele Frequency Aggregator | European | Sub | 4462 | G=0.5000 | A=0.5000 |
| Allele Frequency Aggregator | Other | Sub | 8 | G=0.5 | A=0.5 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 0 | G=0 | A=0 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 0 | G=0 | A=0 |
| Allele Frequency Aggregator | South Asian | Sub | 0 | G=0 | A=0 |
| Allele Frequency Aggregator | African | Sub | 0 | G=0 | A=0 |
| Allele Frequency Aggregator | Asian | Sub | 0 | G=0 | A=0 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.5000 | A=0.5000 |
| SGDP_PRJ | Global | Study-wide | 558 | G=0.500 | A=0.500 |
| Qatari | Global | Study-wide | 216 | G=0.500 | A=0.500 |
| Siberian | Global | Study-wide | 56 | G=0.50 | A=0.50 |
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 1 | NC_000001.11:g.148867658G>A |
| GRCh37.p13 chr 1 fix patch HG1287_PATCH | NW_003871055.3:g.5683071G>A |
| PDE4DIP RefSeqGene | NG_027693.2:g.64483G>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.145016824C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PDE4DIP transcript variant 8 | NM_001198832.4:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 11 |
NM_001350521.4:c.290-813G… NM_001350521.4:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 12 | NM_001350522.3:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 13 | NM_001350523.3:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 14 |
NM_001377392.2:c.290-813G… NM_001377392.2:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 15 | NM_001377393.2:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 17 |
NM_001395298.1:c.290-813G… NM_001395298.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 19 |
NM_001395300.1:c.290-813G… NM_001395300.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 21 |
NM_001395302.1:c.290-813G… NM_001395302.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 22 |
NM_001395303.1:c.290-813G… NM_001395303.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 23 | NM_001395304.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 24 | NM_001395305.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 25 | NM_001395306.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 26 |
NM_001395307.1:c.290-813G… NM_001395307.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 27 | NM_001395308.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 29 | NM_001395310.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 30 | NM_001395311.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 31 | NM_001395312.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 32 | NM_001395313.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 33 | NM_001395314.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 35 |
NM_001395316.1:c.290-813G… NM_001395316.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 36 |
NM_001395317.1:c.290-813G… NM_001395317.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 37 | NM_001395318.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 38 | NM_001395319.1:c.29-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 39 | NM_001395320.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 40 | NM_001395321.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 41 |
NM_001395322.1:c.-218-813… NM_001395322.1:c.-218-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 44 |
NM_001395325.1:c.290-813G… NM_001395325.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 45 | NM_001395326.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 46 | NM_001395327.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 47 |
NM_001395328.1:c.-218-813… NM_001395328.1:c.-218-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 48 |
NM_001395329.1:c.-218-813… NM_001395329.1:c.-218-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant 49 | NM_001395426.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 3 | NM_022359.8:c.290-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant 4 | NM_001002810.5:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 5 | NM_001002811.3:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 2 | NM_001002812.4:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 6 | NM_001195260.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 7 | NM_001195261.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 9 | NM_001198834.5:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 10 | NM_001350520.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 16 | NM_001395297.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 18 | NM_001395299.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 20 | NM_001395301.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 28 | NM_001395309.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 34 | NM_001395315.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 42 | NM_001395323.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 43 | NM_001395324.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant 1 | NM_014644.7:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X23 |
XM_011510176.3:c.290-813G… XM_011510176.3:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X22 |
XM_024451068.2:c.290-813G… XM_024451068.2:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X6 |
XM_047435063.1:c.290-813G… XM_047435063.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X8 |
XM_047435064.1:c.290-813G… XM_047435064.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X9 |
XM_047435065.1:c.290-813G… XM_047435065.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X12 |
XM_047435066.1:c.290-813G… XM_047435066.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X14 |
XM_047435070.1:c.290-813G… XM_047435070.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X17 |
XM_047435071.1:c.290-813G… XM_047435071.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X21 |
XM_047435075.1:c.290-813G… XM_047435075.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X24 |
XM_047435076.1:c.290-813G… XM_047435076.1:c.290-813G>A |
N/A | Intron Variant |
| PDE4DIP transcript variant X28 | XM_047435082.1:c.77-813G>A | N/A | Intron Variant |
| PDE4DIP transcript variant X1 | XM_005272981.4:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X2 | XM_017002879.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X3 | XM_017002881.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X4 | XM_017002882.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X5 | XM_017002883.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X7 | XM_017002884.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X10 | XM_017002885.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X11 | XM_017002886.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X13 | XM_017002890.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X15 | XM_017002896.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X16 | XM_017002897.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X25 | XM_017002900.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X26 | XM_017002901.2:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X18 | XM_047435072.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X19 | XM_047435073.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X20 | XM_047435074.1:c. | N/A | Genic Upstream Transcript Variant |
| PDE4DIP transcript variant X27 | XM_047435081.1:c. | N/A | Genic Upstream Transcript Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC112268272 transcript variant X1 | XR_007066544.1:n.8869C>T | N/A | Non Coding Transcript Variant |
| LOC112268272 transcript variant X2 | XR_002958601.2:n. | N/A | Intron Variant |
| LOC112268272 transcript variant X3 | XR_007066545.1:n. | N/A | Genic Downstream Transcript 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.
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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.148867658= | NC_000001.11:g.148867658G>A |
| GRCh37.p13 chr 1 fix patch HG1287_PATCH | NW_003871055.3:g.5683071= | NW_003871055.3:g.5683071G>A |
| PDE4DIP RefSeqGene | NG_027693.2:g.64483= | NG_027693.2:g.64483G>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.145016824= | NC_000001.10:g.145016824C>T |
| LOC112268272 transcript variant X1 | XR_007066544.1:n.8869= | XR_007066544.1:n.8869C>T |
| PDE4DIP transcript variant 8 | NM_001198832.2:c.77-813= | NM_001198832.2:c.77-813G>A |
| PDE4DIP transcript variant 8 | NM_001198832.4:c.77-813= | NM_001198832.4:c.77-813G>A |
| PDE4DIP transcript variant 11 | NM_001350521.4:c.290-813= | NM_001350521.4:c.290-813G>A |
| PDE4DIP transcript variant 12 | NM_001350522.3:c.77-813= | NM_001350522.3:c.77-813G>A |
| PDE4DIP transcript variant 13 | NM_001350523.3:c.77-813= | NM_001350523.3:c.77-813G>A |
| PDE4DIP transcript variant 14 | NM_001377392.2:c.290-813= | NM_001377392.2:c.290-813G>A |
| PDE4DIP transcript variant 15 | NM_001377393.2:c.77-813= | NM_001377393.2:c.77-813G>A |
| PDE4DIP transcript variant 17 | NM_001395298.1:c.290-813= | NM_001395298.1:c.290-813G>A |
| PDE4DIP transcript variant 19 | NM_001395300.1:c.290-813= | NM_001395300.1:c.290-813G>A |
| PDE4DIP transcript variant 21 | NM_001395302.1:c.290-813= | NM_001395302.1:c.290-813G>A |
| PDE4DIP transcript variant 22 | NM_001395303.1:c.290-813= | NM_001395303.1:c.290-813G>A |
| PDE4DIP transcript variant 23 | NM_001395304.1:c.77-813= | NM_001395304.1:c.77-813G>A |
| PDE4DIP transcript variant 24 | NM_001395305.1:c.77-813= | NM_001395305.1:c.77-813G>A |
| PDE4DIP transcript variant 25 | NM_001395306.1:c.77-813= | NM_001395306.1:c.77-813G>A |
| PDE4DIP transcript variant 26 | NM_001395307.1:c.290-813= | NM_001395307.1:c.290-813G>A |
| PDE4DIP transcript variant 27 | NM_001395308.1:c.77-813= | NM_001395308.1:c.77-813G>A |
| PDE4DIP transcript variant 29 | NM_001395310.1:c.77-813= | NM_001395310.1:c.77-813G>A |
| PDE4DIP transcript variant 30 | NM_001395311.1:c.77-813= | NM_001395311.1:c.77-813G>A |
| PDE4DIP transcript variant 31 | NM_001395312.1:c.77-813= | NM_001395312.1:c.77-813G>A |
| PDE4DIP transcript variant 32 | NM_001395313.1:c.77-813= | NM_001395313.1:c.77-813G>A |
| PDE4DIP transcript variant 33 | NM_001395314.1:c.77-813= | NM_001395314.1:c.77-813G>A |
| PDE4DIP transcript variant 35 | NM_001395316.1:c.290-813= | NM_001395316.1:c.290-813G>A |
| PDE4DIP transcript variant 36 | NM_001395317.1:c.290-813= | NM_001395317.1:c.290-813G>A |
| PDE4DIP transcript variant 37 | NM_001395318.1:c.77-813= | NM_001395318.1:c.77-813G>A |
| PDE4DIP transcript variant 38 | NM_001395319.1:c.29-813= | NM_001395319.1:c.29-813G>A |
| PDE4DIP transcript variant 39 | NM_001395320.1:c.77-813= | NM_001395320.1:c.77-813G>A |
| PDE4DIP transcript variant 40 | NM_001395321.1:c.77-813= | NM_001395321.1:c.77-813G>A |
| PDE4DIP transcript variant 41 | NM_001395322.1:c.-218-813= | NM_001395322.1:c.-218-813G>A |
| PDE4DIP transcript variant 44 | NM_001395325.1:c.290-813= | NM_001395325.1:c.290-813G>A |
| PDE4DIP transcript variant 45 | NM_001395326.1:c.77-813= | NM_001395326.1:c.77-813G>A |
| PDE4DIP transcript variant 46 | NM_001395327.1:c.77-813= | NM_001395327.1:c.77-813G>A |
| PDE4DIP transcript variant 47 | NM_001395328.1:c.-218-813= | NM_001395328.1:c.-218-813G>A |
| PDE4DIP transcript variant 48 | NM_001395329.1:c.-218-813= | NM_001395329.1:c.-218-813G>A |
| PDE4DIP transcript variant 49 | NM_001395426.1:c.77-813= | NM_001395426.1:c.77-813G>A |
| PDE4DIP transcript variant 3 | NM_022359.5:c.290-813= | NM_022359.5:c.290-813G>A |
| PDE4DIP transcript variant 3 | NM_022359.8:c.290-813= | NM_022359.8:c.290-813G>A |
| PDE4DIP transcript variant X2 | XM_005272982.1:c.290-813= | XM_005272982.1:c.290-813G>A |
| PDE4DIP transcript variant X6 | XM_005277447.1:c.290-813= | XM_005277447.1:c.290-813G>A |
| PDE4DIP transcript variant X8 | XM_005277449.1:c.77-813= | XM_005277449.1:c.77-813G>A |
| PDE4DIP transcript variant X23 | XM_011510176.3:c.290-813= | XM_011510176.3:c.290-813G>A |
| PDE4DIP transcript variant X22 | XM_024451068.2:c.290-813= | XM_024451068.2:c.290-813G>A |
| PDE4DIP transcript variant X6 | XM_047435063.1:c.290-813= | XM_047435063.1:c.290-813G>A |
| PDE4DIP transcript variant X8 | XM_047435064.1:c.290-813= | XM_047435064.1:c.290-813G>A |
| PDE4DIP transcript variant X9 | XM_047435065.1:c.290-813= | XM_047435065.1:c.290-813G>A |
| PDE4DIP transcript variant X12 | XM_047435066.1:c.290-813= | XM_047435066.1:c.290-813G>A |
| PDE4DIP transcript variant X14 | XM_047435070.1:c.290-813= | XM_047435070.1:c.290-813G>A |
| PDE4DIP transcript variant X17 | XM_047435071.1:c.290-813= | XM_047435071.1:c.290-813G>A |
| PDE4DIP transcript variant X21 | XM_047435075.1:c.290-813= | XM_047435075.1:c.290-813G>A |
| PDE4DIP transcript variant X24 | XM_047435076.1:c.290-813= | XM_047435076.1:c.290-813G>A |
| PDE4DIP transcript variant X28 | XM_047435082.1:c.77-813= | XM_047435082.1:c.77-813G>A |
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 | SC_JCM | ss2641181 | Nov 09, 2000 (89) |
| 2 | SC_JCM | ss3902451 | Sep 28, 2001 (100) |
| 3 | TSC-CSHL | ss5285056 | Oct 08, 2002 (108) |
| 4 | TSC-CSHL | ss5480799 | Oct 08, 2002 (108) |
| 5 | BCM_SSAHASNP | ss9815071 | Jul 11, 2003 (116) |
| 6 | WI_SSAHASNP | ss11347618 | Jul 11, 2003 (116) |
| 7 | SC_SNP | ss13405659 | Dec 05, 2003 (119) |
| 8 | SC_SNP | ss16040780 | Feb 27, 2004 (120) |
| 9 | HGSV | ss78448453 | Dec 07, 2007 (129) |
| 10 | HGSV | ss80178899 | Dec 15, 2007 (130) |
| 11 | HGSV | ss83734247 | Dec 15, 2007 (130) |
| 12 | HGSV | ss85736934 | Dec 15, 2007 (130) |
| 13 | BCMHGSC_JDW | ss87791828 | Mar 23, 2008 (129) |
| 14 | HUMANGENOME_JCVI | ss99246534 | Feb 05, 2009 (130) |
| 15 | ENSEMBL | ss138073623 | Dec 01, 2009 (131) |
| 16 | ENSEMBL | ss139234468 | Dec 01, 2009 (131) |
| 17 | GMI | ss155677472 | Dec 01, 2009 (131) |
| 18 | COMPLETE_GENOMICS | ss164024509 | Jul 04, 2010 (132) |
| 19 | COMPLETE_GENOMICS | ss165144794 | Jul 04, 2010 (132) |
| 20 | COMPLETE_GENOMICS | ss167078184 | Jul 04, 2010 (132) |
| 21 | BUSHMAN | ss199026583 | Jul 04, 2010 (132) |
| 22 | BCM-HGSC-SUB | ss205039255 | Jul 04, 2010 (132) |
| 23 | GMI | ss276026111 | May 04, 2012 (137) |
| 24 | GMI | ss284141332 | Apr 25, 2013 (138) |
| 25 | PJP | ss290619912 | May 09, 2011 (134) |
| 26 | DDI | ss1425962186 | Apr 09, 2015 (144) |
| 27 | HAMMER_LAB | ss1795026339 | Sep 11, 2015 (146) |
| 28 | WEILL_CORNELL_DGM | ss1918856169 | Feb 17, 2016 (147) |
| 29 | ILLUMINA | ss1958310513 | Feb 17, 2016 (147) |
| 30 | USC_VALOUEV | ss2147970662 | Oct 11, 2018 (152) |
| 31 | SYSTEMSBIOZJU | ss2624482102 | Oct 11, 2018 (152) |
| 32 | GRF | ss2697929449 | Oct 11, 2018 (152) |
| 33 | GNOMAD | ss2760565786 | Oct 11, 2018 (152) |
| 34 | SWEGEN | ss2987629940 | Oct 11, 2018 (152) |
| 35 | ILLUMINA | ss3021129050 | Oct 11, 2018 (152) |
| 36 | CSHL | ss3343681327 | Oct 11, 2018 (152) |
| 37 | ILLUMINA | ss3651462559 | Oct 11, 2018 (152) |
| 38 | EVA | ss3746752642 | Jul 12, 2019 (153) |
| 39 | PACBIO | ss3783546573 | Jul 12, 2019 (153) |
| 40 | PACBIO | ss3789183746 | Jul 12, 2019 (153) |
| 41 | PACBIO | ss3794056206 | Jul 12, 2019 (153) |
| 42 | EVA | ss3826402554 | Apr 25, 2020 (154) |
| 43 | SGDP_PRJ | ss3849857402 | Apr 25, 2020 (154) |
| 44 | KRGDB | ss3895029285 | Apr 25, 2020 (154) |
| 45 | TOMMO_GENOMICS | ss5146148007 | Apr 25, 2021 (155) |
| 46 | EVA | ss5321678601 | Oct 17, 2022 (156) |
| 47 | EVA | ss5832588872 | Oct 17, 2022 (156) |
| 48 | EVA | ss5979984525 | Oct 17, 2022 (156) |
| 49 | KOREAN population from KRGDB | NC_000001.10 - 145016824 | Apr 25, 2020 (154) |
| 50 | Qatari | NC_000001.10 - 145016824 | Apr 25, 2020 (154) |
| 51 | SGDP_PRJ | NC_000001.10 - 145016824 | Apr 25, 2020 (154) |
| 52 | Siberian | NC_000001.10 - 145016824 | Apr 25, 2020 (154) |
| 53 | 8.3KJPN | NC_000001.10 - 145016824 | Apr 25, 2021 (155) |
| 54 | ALFA | NC_000001.11 - 148867658 | Apr 25, 2021 (155) |
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) |
|---|---|
| rs59185886 | May 25, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss78448453, ss80178899, ss83734247, ss85736934 | NC_000001.8:142505867:C:T | NC_000001.11:148867657:G:A | (self) |
| ss87791828, ss164024509, ss165144794, ss167078184, ss199026583, ss205039255, ss276026111, ss284141332, ss290619912 | NC_000001.9:143728180:C:T | NC_000001.11:148867657:G:A | (self) |
| 2206679, 898099, 1874382, 487016, 4117314, ss1425962186, ss1795026339, ss1918856169, ss1958310513, ss2147970662, ss2624482102, ss2697929449, ss2760565786, ss2987629940, ss3021129050, ss3343681327, ss3651462559, ss3746752642, ss3783546573, ss3789183746, ss3794056206, ss3826402554, ss3849857402, ss3895029285, ss5146148007, ss5321678601, ss5832588872, ss5979984525 | NC_000001.10:145016823:C:T | NC_000001.11:148867657:G:A | (self) |
| 2298945511 | NC_000001.11:148867657:G:A | NC_000001.11:148867657:G:A | (self) |
| ss9815071, ss11347618, ss13405659 | NT_004434.15:206099:C:T | NC_000001.11:148867657:G:A | (self) |
| ss16040780 | NT_004434.16:206099:C:T | NC_000001.11:148867657:G:A | (self) |
| ss2641181, ss3902451, ss5285056, ss5480799, ss99246534, ss138073623, ss139234468, ss155677472 | NT_167185.1:344410:C:T | NC_000001.11:148867657:G:A | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1778703
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.