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.
rs1486437212
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:47595945 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000004 (1/264690, TOPMED)T=0.000007 (1/140246, GnomAD)T=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- SPIDR : Missense 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.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | G=1.00000 | T=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | G=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | G=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | G=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | G=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | G=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | G=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | G=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | G=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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 | G=0.999996 | T=0.000004 |
| gnomAD - Genomes | Global | Study-wide | 140246 | G=0.999993 | T=0.000007 |
| gnomAD - Genomes | European | Sub | 75954 | G=1.00000 | T=0.00000 |
| gnomAD - Genomes | African | Sub | 42032 | G=1.00000 | T=0.00000 |
| gnomAD - Genomes | American | Sub | 13650 | G=1.00000 | T=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | G=0.9997 | T=0.0003 |
| gnomAD - Genomes | Other | Sub | 2154 | G=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | T=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | T=0.00 |
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 8 | NC_000008.11:g.47595945G>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.48508507G>T |
Gene: SPIDR, scaffold protein involved in DNA repair
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SPIDR transcript variant 32 | NM_001352958.1:c.-17= | N/A | 5 Prime UTR Variant |
| SPIDR transcript variant 33 | NM_001352959.1:c. | N/A | Genic Upstream Transcript Variant |
| SPIDR transcript variant 34 | NM_001352960.1:c. | N/A | Genic Upstream Transcript Variant |
| SPIDR transcript variant 2 | NM_001282916.1:c.1022G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 2 | NP_001269845.1:p.Ser341Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 3 | NM_001282919.1:c.1052G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 3 | NP_001269848.1:p.Ser351Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 22 | NM_001352947.1:c.482G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 18 | NP_001339876.1:p.Ser161Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 6 | NM_001352932.1:c.1112G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 5 | NP_001339861.1:p.Ser371Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 12 | NM_001352937.1:c.1052G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 11 | NP_001339866.1:p.Ser351Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 26 | NM_001352951.1:c.482G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 21 | NP_001339880.1:p.Ser161Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 7 | NM_001352933.1:c.1052G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 6 | NP_001339862.1:p.Ser351Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 29 | NM_001352955.1:c.299G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 22 | NP_001339884.1:p.Ser100Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 8 | NM_001352961.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 7 | NP_001339890.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 9 | NM_001352934.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 8 | NP_001339863.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 28 | NM_001352953.1:c.299G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 22 | NP_001339882.1:p.Ser100Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 31 | NM_001352957.1:c.299G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 23 | NP_001339886.1:p.Ser100Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 14 | NM_001352939.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 12 | NP_001339868.1:p.Ser247Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 16 | NM_001352941.1:c.716G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 13 | NP_001339870.1:p.Ser239Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 30 | NM_001352956.1:c.299G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 22 | NP_001339885.1:p.Ser100Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 25 | NM_001352950.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 20 | NP_001339879.1:p.Ser247Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 13 | NM_001352938.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 12 | NP_001339867.1:p.Ser247Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 24 | NM_001352949.1:c.575G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 19 | NP_001339878.1:p.Ser192Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 27 | NM_001352952.1:c.299G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 22 | NP_001339881.1:p.Ser100Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 15 | NM_001352940.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 12 | NP_001339869.1:p.Ser247Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 11 | NM_001352936.1:c.1022G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 10 | NP_001339865.1:p.Ser341Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 10 | NM_001352935.1:c.1022G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 9 | NP_001339864.1:p.Ser341Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 19 | NM_001352944.1:c.716G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 16 | NP_001339873.1:p.Ser239Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 21 | NM_001352946.1:c.482G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 18 | NP_001339875.1:p.Ser161Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 5 | NM_001352931.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 4 | NP_001339860.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 18 | NM_001352943.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 15 | NP_001339872.1:p.Ser247Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 23 | NM_001352948.1:c.482G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 18 | NP_001339877.1:p.Ser161Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 17 | NM_001352942.1:c.575G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 14 | NP_001339871.1:p.Ser192Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 20 | NM_001352945.1:c.506G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 17 | NP_001339874.1:p.Ser169Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 1 | NM_001080394.4:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform 1 | NP_001073863.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant 4 | NR_104581.1:n.961G>T | N/A | Non Coding Transcript Variant |
| SPIDR transcript variant 35 | NR_148202.1:n.1313G>T | N/A | Non Coding Transcript Variant |
| SPIDR transcript variant 36 | NR_148203.1:n.1276G>T | N/A | Non Coding Transcript Variant |
| SPIDR transcript variant 38 | NR_148205.1:n.1313G>T | N/A | Non Coding Transcript Variant |
| SPIDR transcript variant 37 | NR_148204.1:n.1313G>T | N/A | Non Coding Transcript Variant |
| SPIDR transcript variant X20 | XM_047421651.1:c.-17= | N/A | 5 Prime UTR Variant |
| SPIDR transcript variant X21 | XM_047421652.1:c.-17= | N/A | 5 Prime UTR Variant |
| SPIDR transcript variant X1 | XM_017013268.3:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X1 | XP_016868757.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X2 | XM_017013269.3:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X2 | XP_016868758.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X3 | XM_017013270.3:c.1112G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X3 | XP_016868759.1:p.Ser371Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X4 | XM_047421638.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X4 | XP_047277594.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X5 | XM_011517497.4:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X5 | XP_011515799.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X6 | XM_047421639.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X6 | XP_047277595.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X7 | XM_017013271.3:c.1052G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X7 | XP_016868760.1:p.Ser351Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X8 | XM_047421640.1:c.1052G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X8 | XP_047277596.1:p.Ser351Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X9 | XM_047421641.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X9 | XP_047277597.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X10 | XM_047421642.1:c.1112G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X10 | XP_047277598.1:p.Ser371Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X11 | XM_047421643.1:c.1232G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X11 | XP_047277599.1:p.Ser411Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X12 | XM_017013273.2:c.761G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X12 | XP_016868762.1:p.Ser254Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X13 | XM_047421644.1:c.1112G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X13 | XP_047277600.1:p.Ser371Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X14 | XM_047421645.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X14 | XP_047277601.1:p.Ser247Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X15 | XM_047421646.1:c.734G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X15 | XP_047277602.1:p.Ser245Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X16 | XM_047421647.1:c.575G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X16 | XP_047277603.1:p.Ser192Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X17 | XM_047421648.1:c.482G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X17 | XP_047277604.1:p.Ser161Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X18 | XM_047421649.1:c.299G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X18 | XP_047277605.1:p.Ser100Ile | S (Ser) > I (Ile) | Missense Variant |
| SPIDR transcript variant X19 | XM_047421650.1:c.740G>T | S [AGC] > I [ATC] | Coding Sequence Variant |
| DNA repair-scaffolding protein isoform X19 | XP_047277606.1:p.Ser247Ile | S (Ser) > I (Ile) | 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.
Not Reported in ClinVar
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 | G= | T |
|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.47595945= | NC_000008.11:g.47595945G>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.48508507= | NC_000008.10:g.48508507G>T |
| SPIDR transcript variant X5 | XM_011517497.4:c.1232= | XM_011517497.4:c.1232G>T |
| SPIDR transcript variant X4 | XM_011517497.3:c.1232= | XM_011517497.3:c.1232G>T |
| SPIDR transcript variant X4 | XM_011517497.2:c.1232= | XM_011517497.2:c.1232G>T |
| SPIDR transcript variant X1 | XM_011517497.1:c.1232= | XM_011517497.1:c.1232G>T |
| SPIDR transcript variant 1 | NM_001080394.4:c.1232= | NM_001080394.4:c.1232G>T |
| SPIDR transcript variant 1 | NM_001080394.3:c.1232= | NM_001080394.3:c.1232G>T |
| SPIDR transcript | NM_001080394.2:c.1232= | NM_001080394.2:c.1232G>T |
| SPIDR transcript variant X7 | XM_017013271.3:c.1052= | XM_017013271.3:c.1052G>T |
| SPIDR transcript variant X5 | XM_017013271.2:c.1052= | XM_017013271.2:c.1052G>T |
| SPIDR transcript variant X6 | XM_017013271.1:c.1052= | XM_017013271.1:c.1052G>T |
| SPIDR transcript variant X1 | XM_017013268.3:c.1232= | XM_017013268.3:c.1232G>T |
| SPIDR transcript variant X1 | XM_017013268.2:c.1232= | XM_017013268.2:c.1232G>T |
| SPIDR transcript variant X1 | XM_017013268.1:c.1232= | XM_017013268.1:c.1232G>T |
| SPIDR transcript variant X2 | XM_017013269.3:c.1232= | XM_017013269.3:c.1232G>T |
| SPIDR transcript variant X2 | XM_017013269.2:c.1232= | XM_017013269.2:c.1232G>T |
| SPIDR transcript variant X2 | XM_017013269.1:c.1232= | XM_017013269.1:c.1232G>T |
| SPIDR transcript variant X3 | XM_017013270.3:c.1112= | XM_017013270.3:c.1112G>T |
| SPIDR transcript variant X3 | XM_017013270.2:c.1112= | XM_017013270.2:c.1112G>T |
| SPIDR transcript variant X3 | XM_017013270.1:c.1112= | XM_017013270.1:c.1112G>T |
| SPIDR transcript variant X12 | XM_017013273.2:c.761= | XM_017013273.2:c.761G>T |
| SPIDR transcript variant X6 | XM_017013273.1:c.761= | XM_017013273.1:c.761G>T |
| SPIDR transcript variant X8 | XM_047421640.1:c.1052= | XM_047421640.1:c.1052G>T |
| SPIDR transcript variant X4 | XM_047421638.1:c.1232= | XM_047421638.1:c.1232G>T |
| SPIDR transcript variant 35 | NR_148202.1:n.1313= | NR_148202.1:n.1313G>T |
| SPIDR transcript variant 24 | NM_001352949.1:c.575= | NM_001352949.1:c.575G>T |
| SPIDR transcript variant 32 | NM_001352958.1:c.-17= | NM_001352958.1:c.-17G>T |
| SPIDR transcript variant X11 | XM_047421643.1:c.1232= | XM_047421643.1:c.1232G>T |
| SPIDR transcript variant 5 | NM_001352931.1:c.1232= | NM_001352931.1:c.1232G>T |
| SPIDR transcript variant X13 | XM_047421644.1:c.1112= | XM_047421644.1:c.1112G>T |
| SPIDR transcript variant 37 | NR_148204.1:n.1313= | NR_148204.1:n.1313G>T |
| SPIDR transcript variant 10 | NM_001352935.1:c.1022= | NM_001352935.1:c.1022G>T |
| SPIDR transcript variant X9 | XM_047421641.1:c.1232= | XM_047421641.1:c.1232G>T |
| SPIDR transcript variant 3 | NM_001282919.1:c.1052= | NM_001282919.1:c.1052G>T |
| SPIDR transcript variant 7 | NM_001352933.1:c.1052= | NM_001352933.1:c.1052G>T |
| SPIDR transcript variant 2 | NM_001282916.1:c.1022= | NM_001282916.1:c.1022G>T |
| SPIDR transcript variant X10 | XM_047421642.1:c.1112= | XM_047421642.1:c.1112G>T |
| SPIDR transcript variant 38 | NR_148205.1:n.1313= | NR_148205.1:n.1313G>T |
| SPIDR transcript variant X15 | XM_047421646.1:c.734= | XM_047421646.1:c.734G>T |
| SPIDR transcript variant 6 | NM_001352932.1:c.1112= | NM_001352932.1:c.1112G>T |
| SPIDR transcript variant X14 | XM_047421645.1:c.740= | XM_047421645.1:c.740G>T |
| SPIDR transcript variant 36 | NR_148203.1:n.1276= | NR_148203.1:n.1276G>T |
| SPIDR transcript variant X16 | XM_047421647.1:c.575= | XM_047421647.1:c.575G>T |
| SPIDR transcript variant 15 | NM_001352940.1:c.740= | NM_001352940.1:c.740G>T |
| SPIDR transcript variant 9 | NM_001352934.1:c.1232= | NM_001352934.1:c.1232G>T |
| SPIDR transcript variant 26 | NM_001352951.1:c.482= | NM_001352951.1:c.482G>T |
| SPIDR transcript variant 13 | NM_001352938.1:c.740= | NM_001352938.1:c.740G>T |
| SPIDR transcript variant 12 | NM_001352937.1:c.1052= | NM_001352937.1:c.1052G>T |
| SPIDR transcript variant 17 | NM_001352942.1:c.575= | NM_001352942.1:c.575G>T |
| SPIDR transcript variant 14 | NM_001352939.1:c.740= | NM_001352939.1:c.740G>T |
| SPIDR transcript variant 22 | NM_001352947.1:c.482= | NM_001352947.1:c.482G>T |
| SPIDR transcript variant 23 | NM_001352948.1:c.482= | NM_001352948.1:c.482G>T |
| SPIDR transcript variant 8 | NM_001352961.1:c.1232= | NM_001352961.1:c.1232G>T |
| SPIDR transcript variant 21 | NM_001352946.1:c.482= | NM_001352946.1:c.482G>T |
| SPIDR transcript variant 11 | NM_001352936.1:c.1022= | NM_001352936.1:c.1022G>T |
| SPIDR transcript variant 25 | NM_001352950.1:c.740= | NM_001352950.1:c.740G>T |
| SPIDR transcript variant 29 | NM_001352955.1:c.299= | NM_001352955.1:c.299G>T |
| SPIDR transcript variant X17 | XM_047421648.1:c.482= | XM_047421648.1:c.482G>T |
| SPIDR transcript variant 27 | NM_001352952.1:c.299= | NM_001352952.1:c.299G>T |
| SPIDR transcript variant 28 | NM_001352953.1:c.299= | NM_001352953.1:c.299G>T |
| SPIDR transcript variant 18 | NM_001352943.1:c.740= | NM_001352943.1:c.740G>T |
| SPIDR transcript variant 30 | NM_001352956.1:c.299= | NM_001352956.1:c.299G>T |
| SPIDR transcript variant 16 | NM_001352941.1:c.716= | NM_001352941.1:c.716G>T |
| SPIDR transcript variant 31 | NM_001352957.1:c.299= | NM_001352957.1:c.299G>T |
| SPIDR transcript variant 20 | NM_001352945.1:c.506= | NM_001352945.1:c.506G>T |
| SPIDR transcript variant X18 | XM_047421649.1:c.299= | XM_047421649.1:c.299G>T |
| SPIDR transcript variant 4 | NR_104581.1:n.961= | NR_104581.1:n.961G>T |
| SPIDR transcript variant X6 | XM_047421639.1:c.1232= | XM_047421639.1:c.1232G>T |
| SPIDR transcript variant X20 | XM_047421651.1:c.-17= | XM_047421651.1:c.-17G>T |
| SPIDR transcript variant 19 | NM_001352944.1:c.716= | NM_001352944.1:c.716G>T |
| SPIDR transcript variant X19 | XM_047421650.1:c.740= | XM_047421650.1:c.740G>T |
| SPIDR transcript variant X21 | XM_047421652.1:c.-17= | XM_047421652.1:c.-17G>T |
| DNA repair-scaffolding protein isoform X5 | XP_011515799.1:p.Ser411= | XP_011515799.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 1 | NP_001073863.1:p.Ser411= | NP_001073863.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform X7 | XP_016868760.1:p.Ser351= | XP_016868760.1:p.Ser351Ile |
| DNA repair-scaffolding protein isoform X1 | XP_016868757.1:p.Ser411= | XP_016868757.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform X2 | XP_016868758.1:p.Ser411= | XP_016868758.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform X3 | XP_016868759.1:p.Ser371= | XP_016868759.1:p.Ser371Ile |
| DNA repair-scaffolding protein isoform X12 | XP_016868762.1:p.Ser254= | XP_016868762.1:p.Ser254Ile |
| DNA repair-scaffolding protein isoform X8 | XP_047277596.1:p.Ser351= | XP_047277596.1:p.Ser351Ile |
| DNA repair-scaffolding protein isoform X4 | XP_047277594.1:p.Ser411= | XP_047277594.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 19 | NP_001339878.1:p.Ser192= | NP_001339878.1:p.Ser192Ile |
| DNA repair-scaffolding protein isoform X11 | XP_047277599.1:p.Ser411= | XP_047277599.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 4 | NP_001339860.1:p.Ser411= | NP_001339860.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform X13 | XP_047277600.1:p.Ser371= | XP_047277600.1:p.Ser371Ile |
| DNA repair-scaffolding protein isoform 9 | NP_001339864.1:p.Ser341= | NP_001339864.1:p.Ser341Ile |
| DNA repair-scaffolding protein isoform X9 | XP_047277597.1:p.Ser411= | XP_047277597.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 3 | NP_001269848.1:p.Ser351= | NP_001269848.1:p.Ser351Ile |
| DNA repair-scaffolding protein isoform 6 | NP_001339862.1:p.Ser351= | NP_001339862.1:p.Ser351Ile |
| DNA repair-scaffolding protein isoform 2 | NP_001269845.1:p.Ser341= | NP_001269845.1:p.Ser341Ile |
| DNA repair-scaffolding protein isoform X10 | XP_047277598.1:p.Ser371= | XP_047277598.1:p.Ser371Ile |
| DNA repair-scaffolding protein isoform X15 | XP_047277602.1:p.Ser245= | XP_047277602.1:p.Ser245Ile |
| DNA repair-scaffolding protein isoform 5 | NP_001339861.1:p.Ser371= | NP_001339861.1:p.Ser371Ile |
| DNA repair-scaffolding protein isoform X14 | XP_047277601.1:p.Ser247= | XP_047277601.1:p.Ser247Ile |
| DNA repair-scaffolding protein isoform X16 | XP_047277603.1:p.Ser192= | XP_047277603.1:p.Ser192Ile |
| DNA repair-scaffolding protein isoform 12 | NP_001339869.1:p.Ser247= | NP_001339869.1:p.Ser247Ile |
| DNA repair-scaffolding protein isoform 8 | NP_001339863.1:p.Ser411= | NP_001339863.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 21 | NP_001339880.1:p.Ser161= | NP_001339880.1:p.Ser161Ile |
| DNA repair-scaffolding protein isoform 12 | NP_001339867.1:p.Ser247= | NP_001339867.1:p.Ser247Ile |
| DNA repair-scaffolding protein isoform 11 | NP_001339866.1:p.Ser351= | NP_001339866.1:p.Ser351Ile |
| DNA repair-scaffolding protein isoform 14 | NP_001339871.1:p.Ser192= | NP_001339871.1:p.Ser192Ile |
| DNA repair-scaffolding protein isoform 12 | NP_001339868.1:p.Ser247= | NP_001339868.1:p.Ser247Ile |
| DNA repair-scaffolding protein isoform 18 | NP_001339876.1:p.Ser161= | NP_001339876.1:p.Ser161Ile |
| DNA repair-scaffolding protein isoform 18 | NP_001339877.1:p.Ser161= | NP_001339877.1:p.Ser161Ile |
| DNA repair-scaffolding protein isoform 7 | NP_001339890.1:p.Ser411= | NP_001339890.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 18 | NP_001339875.1:p.Ser161= | NP_001339875.1:p.Ser161Ile |
| DNA repair-scaffolding protein isoform 10 | NP_001339865.1:p.Ser341= | NP_001339865.1:p.Ser341Ile |
| DNA repair-scaffolding protein isoform 20 | NP_001339879.1:p.Ser247= | NP_001339879.1:p.Ser247Ile |
| DNA repair-scaffolding protein isoform 22 | NP_001339884.1:p.Ser100= | NP_001339884.1:p.Ser100Ile |
| DNA repair-scaffolding protein isoform X17 | XP_047277604.1:p.Ser161= | XP_047277604.1:p.Ser161Ile |
| DNA repair-scaffolding protein isoform 22 | NP_001339881.1:p.Ser100= | NP_001339881.1:p.Ser100Ile |
| DNA repair-scaffolding protein isoform 22 | NP_001339882.1:p.Ser100= | NP_001339882.1:p.Ser100Ile |
| DNA repair-scaffolding protein isoform 15 | NP_001339872.1:p.Ser247= | NP_001339872.1:p.Ser247Ile |
| DNA repair-scaffolding protein isoform 22 | NP_001339885.1:p.Ser100= | NP_001339885.1:p.Ser100Ile |
| DNA repair-scaffolding protein isoform 13 | NP_001339870.1:p.Ser239= | NP_001339870.1:p.Ser239Ile |
| DNA repair-scaffolding protein isoform 23 | NP_001339886.1:p.Ser100= | NP_001339886.1:p.Ser100Ile |
| DNA repair-scaffolding protein isoform 17 | NP_001339874.1:p.Ser169= | NP_001339874.1:p.Ser169Ile |
| DNA repair-scaffolding protein isoform X18 | XP_047277605.1:p.Ser100= | XP_047277605.1:p.Ser100Ile |
| DNA repair-scaffolding protein isoform X6 | XP_047277595.1:p.Ser411= | XP_047277595.1:p.Ser411Ile |
| DNA repair-scaffolding protein isoform 16 | NP_001339873.1:p.Ser239= | NP_001339873.1:p.Ser239Ile |
| DNA repair-scaffolding protein isoform X19 | XP_047277606.1:p.Ser247= | XP_047277606.1:p.Ser247Ile |
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#.
2 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss4183696499 | Apr 27, 2021 (155) |
| 2 | TOPMED | ss4784706772 | Apr 27, 2021 (155) |
| 3 | gnomAD - Genomes | NC_000008.11 - 47595945 | Apr 27, 2021 (155) |
| 4 | TopMed | NC_000008.11 - 47595945 | Apr 27, 2021 (155) |
| 5 | ALFA | NC_000008.11 - 47595945 | Apr 27, 2021 (155) |
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).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1486437212
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.