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.
rs756883400
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr7:5987497 (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 / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000050 (6/120418, ExAC)C=0.00035 (14/39898, ALFA)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- PMS2 : 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 39898 | G=0.99965 | A=0.00000, C=0.00035 |
| European | Sub | 31046 | G=0.99955 | A=0.00000, C=0.00045 |
| African | Sub | 2918 | G=1.0000 | A=0.0000, C=0.0000 |
| African Others | Sub | 114 | G=1.000 | A=0.000, C=0.000 |
| African American | Sub | 2804 | G=1.0000 | A=0.0000, C=0.0000 |
| Asian | Sub | 112 | G=1.000 | A=0.000, C=0.000 |
| East Asian | Sub | 86 | G=1.00 | A=0.00, C=0.00 |
| Other Asian | Sub | 26 | G=1.00 | A=0.00, C=0.00 |
| Latin American 1 | Sub | 500 | G=1.000 | A=0.000, C=0.000 |
| Latin American 2 | Sub | 628 | G=1.000 | A=0.000, C=0.000 |
| South Asian | Sub | 98 | G=1.00 | A=0.00, C=0.00 |
| Other | Sub | 4596 | G=1.0000 | A=0.0000, C=0.0000 |
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 |
|---|---|---|---|---|---|
| ExAC | Global | Study-wide | 120418 | G=0.999950 | C=0.000050 |
| ExAC | Europe | Sub | 72854 | G=0.99992 | C=0.00008 |
| ExAC | Asian | Sub | 24856 | G=1.00000 | C=0.00000 |
| ExAC | American | Sub | 11514 | G=1.00000 | C=0.00000 |
| ExAC | African | Sub | 10292 | G=1.00000 | C=0.00000 |
| ExAC | Other | Sub | 902 | G=1.000 | C=0.000 |
| Allele Frequency Aggregator | Total | Global | 39898 | G=0.99965 | A=0.00000, C=0.00035 |
| Allele Frequency Aggregator | European | Sub | 31046 | G=0.99955 | A=0.00000, C=0.00045 |
| Allele Frequency Aggregator | Other | Sub | 4596 | G=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2918 | G=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00, C=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 7 | NC_000007.14:g.5987497G>A |
| GRCh38.p14 chr 7 | NC_000007.14:g.5987497G>C |
| GRCh38.p14 chr 7 | NC_000007.14:g.5987497G>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.6027128G>A |
| GRCh37.p13 chr 7 | NC_000007.13:g.6027128G>C |
| GRCh37.p13 chr 7 | NC_000007.13:g.6027128G>T |
| PMS2 RefSeqGene (LRG_161) | NG_008466.1:g.26610C>T |
| PMS2 RefSeqGene (LRG_161) | NG_008466.1:g.26610C>G |
| PMS2 RefSeqGene (LRG_161) | NG_008466.1:g.26610C>A |
Gene: PMS2, PMS1 homolog 2, mismatch repair system component
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PMS2 transcript variant 1 | NM_000535.7:c.1268C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform a | NP_000526.2:p.Ala423Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 1 | NM_000535.7:c.1268C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform a | NP_000526.2:p.Ala423Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 1 | NM_000535.7:c.1268C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform a | NP_000526.2:p.Ala423Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 5 | NM_001322006.2:c.1112C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform c | NP_001308935.1:p.Ala371Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 5 | NM_001322006.2:c.1112C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform c | NP_001308935.1:p.Ala371Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 5 | NM_001322006.2:c.1112C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform c | NP_001308935.1:p.Ala371Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 12 | NM_001322013.2:c.695C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform h | NP_001308942.1:p.Ala232Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 12 | NM_001322013.2:c.695C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform h | NP_001308942.1:p.Ala232Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 12 | NM_001322013.2:c.695C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform h | NP_001308942.1:p.Ala232Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 14 | NM_001322015.2:c.959C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform j | NP_001308944.1:p.Ala320Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 14 | NM_001322015.2:c.959C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform j | NP_001308944.1:p.Ala320Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 14 | NM_001322015.2:c.959C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform j | NP_001308944.1:p.Ala320Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 11 | NM_001322012.2:c.335C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform g | NP_001308941.1:p.Ala112Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 11 | NM_001322012.2:c.335C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform g | NP_001308941.1:p.Ala112Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 11 | NM_001322012.2:c.335C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform g | NP_001308941.1:p.Ala112Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 4 | NM_001322005.2:c.863C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308934.1:p.Ala288Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 4 | NM_001322005.2:c.863C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308934.1:p.Ala288Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 4 | NM_001322005.2:c.863C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308934.1:p.Ala288Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 9 | NM_001322010.2:c.707C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform f | NP_001308939.1:p.Ala236Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 9 | NM_001322010.2:c.707C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform f | NP_001308939.1:p.Ala236Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 9 | NM_001322010.2:c.707C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform f | NP_001308939.1:p.Ala236Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 7 | NM_001322008.2:c.950C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform d | NP_001308937.1:p.Ala317Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 7 | NM_001322008.2:c.950C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform d | NP_001308937.1:p.Ala317Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 7 | NM_001322008.2:c.950C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform d | NP_001308937.1:p.Ala317Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 2 | NM_001322003.2:c.863C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308932.1:p.Ala288Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 2 | NM_001322003.2:c.863C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308932.1:p.Ala288Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 2 | NM_001322003.2:c.863C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308932.1:p.Ala288Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 13 | NM_001322014.2:c.1268C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform i | NP_001308943.1:p.Ala423Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 13 | NM_001322014.2:c.1268C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform i | NP_001308943.1:p.Ala423Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 13 | NM_001322014.2:c.1268C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform i | NP_001308943.1:p.Ala423Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 3 | NM_001322004.2:c.863C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308933.1:p.Ala288Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 3 | NM_001322004.2:c.863C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308933.1:p.Ala288Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 3 | NM_001322004.2:c.863C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform b | NP_001308933.1:p.Ala288Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 10 | NM_001322011.2:c.335C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform g | NP_001308940.1:p.Ala112Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 10 | NM_001322011.2:c.335C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform g | NP_001308940.1:p.Ala112Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 10 | NM_001322011.2:c.335C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform g | NP_001308940.1:p.Ala112Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 8 | NM_001322009.2:c.863C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform e | NP_001308938.1:p.Ala288Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 8 | NM_001322009.2:c.863C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform e | NP_001308938.1:p.Ala288Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 8 | NM_001322009.2:c.863C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform e | NP_001308938.1:p.Ala288Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 6 | NM_001322007.2:c.950C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform d | NP_001308936.1:p.Ala317Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant 6 | NM_001322007.2:c.950C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform d | NP_001308936.1:p.Ala317Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant 6 | NM_001322007.2:c.950C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform d | NP_001308936.1:p.Ala317Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant 15 | NR_136154.1:n.1355C>T | N/A | Non Coding Transcript Variant |
| PMS2 transcript variant 15 | NR_136154.1:n.1355C>G | N/A | Non Coding Transcript Variant |
| PMS2 transcript variant 15 | NR_136154.1:n.1355C>A | N/A | Non Coding Transcript Variant |
| PMS2 transcript variant X1 | XM_047420482.1:c.1313C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X1 | XP_047276438.1:p.Ala438Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant X1 | XM_047420482.1:c.1313C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X1 | XP_047276438.1:p.Ala438Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant X1 | XM_047420482.1:c.1313C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X1 | XP_047276438.1:p.Ala438Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant X2 | XM_047420483.1:c.1262C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X2 | XP_047276439.1:p.Ala421Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant X2 | XM_047420483.1:c.1262C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X2 | XP_047276439.1:p.Ala421Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant X2 | XM_047420483.1:c.1262C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X2 | XP_047276439.1:p.Ala421Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant X3 | XM_047420484.1:c.1157C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X3 | XP_047276440.1:p.Ala386Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant X3 | XM_047420484.1:c.1157C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X3 | XP_047276440.1:p.Ala386Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant X3 | XM_047420484.1:c.1157C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X3 | XP_047276440.1:p.Ala386Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant X4 | XM_047420485.1:c.950C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276441.1:p.Ala317Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant X4 | XM_047420485.1:c.950C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276441.1:p.Ala317Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant X4 | XM_047420485.1:c.950C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276441.1:p.Ala317Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant X5 | XM_024446800.2:c.707C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X5 | XP_024302568.1:p.Ala236Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant X5 | XM_024446800.2:c.707C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X5 | XP_024302568.1:p.Ala236Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant X5 | XM_024446800.2:c.707C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X5 | XP_024302568.1:p.Ala236Asp | A (Ala) > D (Asp) | Missense Variant |
| PMS2 transcript variant X4 | XM_047420486.1:c.335C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276442.1:p.Ala112Val | A (Ala) > V (Val) | Missense Variant |
| PMS2 transcript variant X4 | XM_047420486.1:c.335C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276442.1:p.Ala112Gly | A (Ala) > G (Gly) | Missense Variant |
| PMS2 transcript variant X4 | XM_047420486.1:c.335C>A | A [GCC] > D [GAC] | Coding Sequence Variant |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276442.1:p.Ala112Asp | A (Ala) > D (Asp) | 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:
182762
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000165790.4 | Hereditary cancer-predisposing syndrome | Uncertain-Significance |
| RCV001217614.5 | Hereditary nonpolyposis colorectal neoplasms | Uncertain-Significance |
Allele: C (allele ID:
182763
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000164345.8 | Hereditary cancer-predisposing syndrome | Uncertain-Significance |
| RCV000234512.7 | Colorectal cancer, hereditary nonpolyposis, type 4 | Uncertain-Significance |
| RCV000486789.8 | not specified | Uncertain-Significance |
| RCV000524430.8 | Hereditary nonpolyposis colorectal neoplasms | Uncertain-Significance |
| RCV000657013.3 | not provided | Uncertain-Significance |
Allele: T (allele ID:
617390
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000777464.2 | Hereditary cancer-predisposing syndrome | Uncertain-Significance |
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= | A | C | T |
|---|---|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.5987497= | NC_000007.14:g.5987497G>A | NC_000007.14:g.5987497G>C | NC_000007.14:g.5987497G>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.6027128= | NC_000007.13:g.6027128G>A | NC_000007.13:g.6027128G>C | NC_000007.13:g.6027128G>T |
| PMS2 RefSeqGene (LRG_161) | NG_008466.1:g.26610= | NG_008466.1:g.26610C>T | NG_008466.1:g.26610C>G | NG_008466.1:g.26610C>A |
| PMS2 transcript variant 1 | NM_000535.7:c.1268= | NM_000535.7:c.1268C>T | NM_000535.7:c.1268C>G | NM_000535.7:c.1268C>A |
| PMS2 transcript variant 1 | NM_000535.6:c.1268= | NM_000535.6:c.1268C>T | NM_000535.6:c.1268C>G | NM_000535.6:c.1268C>A |
| PMS2 transcript variant 1 | NM_000535.5:c.1268= | NM_000535.5:c.1268C>T | NM_000535.5:c.1268C>G | NM_000535.5:c.1268C>A |
| PMS2 transcript variant 8 | NM_001322009.2:c.863= | NM_001322009.2:c.863C>T | NM_001322009.2:c.863C>G | NM_001322009.2:c.863C>A |
| PMS2 transcript variant 8 | NM_001322009.1:c.863= | NM_001322009.1:c.863C>T | NM_001322009.1:c.863C>G | NM_001322009.1:c.863C>A |
| PMS2 transcript variant 4 | NM_001322005.2:c.863= | NM_001322005.2:c.863C>T | NM_001322005.2:c.863C>G | NM_001322005.2:c.863C>A |
| PMS2 transcript variant 4 | NM_001322005.1:c.863= | NM_001322005.1:c.863C>T | NM_001322005.1:c.863C>G | NM_001322005.1:c.863C>A |
| PMS2 transcript variant 14 | NM_001322015.2:c.959= | NM_001322015.2:c.959C>T | NM_001322015.2:c.959C>G | NM_001322015.2:c.959C>A |
| PMS2 transcript variant 14 | NM_001322015.1:c.959= | NM_001322015.1:c.959C>T | NM_001322015.1:c.959C>G | NM_001322015.1:c.959C>A |
| PMS2 transcript variant 13 | NM_001322014.2:c.1268= | NM_001322014.2:c.1268C>T | NM_001322014.2:c.1268C>G | NM_001322014.2:c.1268C>A |
| PMS2 transcript variant 13 | NM_001322014.1:c.1268= | NM_001322014.1:c.1268C>T | NM_001322014.1:c.1268C>G | NM_001322014.1:c.1268C>A |
| PMS2 transcript variant 2 | NM_001322003.2:c.863= | NM_001322003.2:c.863C>T | NM_001322003.2:c.863C>G | NM_001322003.2:c.863C>A |
| PMS2 transcript variant 2 | NM_001322003.1:c.863= | NM_001322003.1:c.863C>T | NM_001322003.1:c.863C>G | NM_001322003.1:c.863C>A |
| PMS2 transcript variant 10 | NM_001322011.2:c.335= | NM_001322011.2:c.335C>T | NM_001322011.2:c.335C>G | NM_001322011.2:c.335C>A |
| PMS2 transcript variant 10 | NM_001322011.1:c.335= | NM_001322011.1:c.335C>T | NM_001322011.1:c.335C>G | NM_001322011.1:c.335C>A |
| PMS2 transcript variant 11 | NM_001322012.2:c.335= | NM_001322012.2:c.335C>T | NM_001322012.2:c.335C>G | NM_001322012.2:c.335C>A |
| PMS2 transcript variant 11 | NM_001322012.1:c.335= | NM_001322012.1:c.335C>T | NM_001322012.1:c.335C>G | NM_001322012.1:c.335C>A |
| PMS2 transcript variant 6 | NM_001322007.2:c.950= | NM_001322007.2:c.950C>T | NM_001322007.2:c.950C>G | NM_001322007.2:c.950C>A |
| PMS2 transcript variant 6 | NM_001322007.1:c.950= | NM_001322007.1:c.950C>T | NM_001322007.1:c.950C>G | NM_001322007.1:c.950C>A |
| PMS2 transcript variant 3 | NM_001322004.2:c.863= | NM_001322004.2:c.863C>T | NM_001322004.2:c.863C>G | NM_001322004.2:c.863C>A |
| PMS2 transcript variant 3 | NM_001322004.1:c.863= | NM_001322004.1:c.863C>T | NM_001322004.1:c.863C>G | NM_001322004.1:c.863C>A |
| PMS2 transcript variant 5 | NM_001322006.2:c.1112= | NM_001322006.2:c.1112C>T | NM_001322006.2:c.1112C>G | NM_001322006.2:c.1112C>A |
| PMS2 transcript variant 5 | NM_001322006.1:c.1112= | NM_001322006.1:c.1112C>T | NM_001322006.1:c.1112C>G | NM_001322006.1:c.1112C>A |
| PMS2 transcript variant 12 | NM_001322013.2:c.695= | NM_001322013.2:c.695C>T | NM_001322013.2:c.695C>G | NM_001322013.2:c.695C>A |
| PMS2 transcript variant 12 | NM_001322013.1:c.695= | NM_001322013.1:c.695C>T | NM_001322013.1:c.695C>G | NM_001322013.1:c.695C>A |
| PMS2 transcript variant 7 | NM_001322008.2:c.950= | NM_001322008.2:c.950C>T | NM_001322008.2:c.950C>G | NM_001322008.2:c.950C>A |
| PMS2 transcript variant 7 | NM_001322008.1:c.950= | NM_001322008.1:c.950C>T | NM_001322008.1:c.950C>G | NM_001322008.1:c.950C>A |
| PMS2 transcript variant 9 | NM_001322010.2:c.707= | NM_001322010.2:c.707C>T | NM_001322010.2:c.707C>G | NM_001322010.2:c.707C>A |
| PMS2 transcript variant 9 | NM_001322010.1:c.707= | NM_001322010.1:c.707C>T | NM_001322010.1:c.707C>G | NM_001322010.1:c.707C>A |
| PMS2 transcript variant 26 | NM_001406877.1:c.959= | NM_001406877.1:c.959C>T | NM_001406877.1:c.959C>G | NM_001406877.1:c.959C>A |
| PMS2 transcript variant 24 | NM_001406875.1:c.959= | NM_001406875.1:c.959C>T | NM_001406875.1:c.959C>G | NM_001406875.1:c.959C>A |
| PMS2 transcript variant 31 | NM_001406882.1:c.959= | NM_001406882.1:c.959C>T | NM_001406882.1:c.959C>G | NM_001406882.1:c.959C>A |
| PMS2 transcript variant 42 | NM_001406893.1:c.863= | NM_001406893.1:c.863C>T | NM_001406893.1:c.863C>G | NM_001406893.1:c.863C>A |
| PMS2 transcript variant 16 | NM_001406866.1:c.1454= | NM_001406866.1:c.1454C>T | NM_001406866.1:c.1454C>G | NM_001406866.1:c.1454C>A |
| PMS2 transcript variant 46 | NM_001406897.1:c.863= | NM_001406897.1:c.863C>T | NM_001406897.1:c.863C>G | NM_001406897.1:c.863C>A |
| PMS2 transcript variant 27 | NM_001406878.1:c.959= | NM_001406878.1:c.959C>T | NM_001406878.1:c.959C>G | NM_001406878.1:c.959C>A |
| PMS2 transcript variant 47 | NM_001406898.1:c.863= | NM_001406898.1:c.863C>T | NM_001406898.1:c.863C>G | NM_001406898.1:c.863C>A |
| PMS2 transcript variant 40 | NM_001406891.1:c.863= | NM_001406891.1:c.863C>T | NM_001406891.1:c.863C>G | NM_001406891.1:c.863C>A |
| PMS2 transcript variant 43 | NM_001406894.1:c.863= | NM_001406894.1:c.863C>T | NM_001406894.1:c.863C>G | NM_001406894.1:c.863C>A |
| PMS2 transcript variant 48 | NM_001406899.1:c.863= | NM_001406899.1:c.863C>T | NM_001406899.1:c.863C>G | NM_001406899.1:c.863C>A |
| PMS2 transcript variant 29 | NM_001406880.1:c.959= | NM_001406880.1:c.959C>T | NM_001406880.1:c.959C>G | NM_001406880.1:c.959C>A |
| PMS2 transcript variant 28 | NM_001406879.1:c.959= | NM_001406879.1:c.959C>T | NM_001406879.1:c.959C>G | NM_001406879.1:c.959C>A |
| PMS2 transcript variant 36 | NM_001406887.1:c.863= | NM_001406887.1:c.863C>T | NM_001406887.1:c.863C>G | NM_001406887.1:c.863C>A |
| PMS2 transcript variant 17 | NM_001406868.1:c.1292= | NM_001406868.1:c.1292C>T | NM_001406868.1:c.1292C>G | NM_001406868.1:c.1292C>A |
| PMS2 transcript variant 15 | NR_136154.1:n.1355= | NR_136154.1:n.1355C>T | NR_136154.1:n.1355C>G | NR_136154.1:n.1355C>A |
| PMS2 transcript variant 39 | NM_001406890.1:c.863= | NM_001406890.1:c.863C>T | NM_001406890.1:c.863C>G | NM_001406890.1:c.863C>A |
| PMS2 transcript variant 37 | NM_001406888.1:c.863= | NM_001406888.1:c.863C>T | NM_001406888.1:c.863C>G | NM_001406888.1:c.863C>A |
| PMS2 transcript variant 41 | NM_001406892.1:c.863= | NM_001406892.1:c.863C>T | NM_001406892.1:c.863C>G | NM_001406892.1:c.863C>A |
| PMS2 transcript variant 38 | NM_001406889.1:c.863= | NM_001406889.1:c.863C>T | NM_001406889.1:c.863C>G | NM_001406889.1:c.863C>A |
| PMS2 transcript variant 30 | NM_001406881.1:c.959= | NM_001406881.1:c.959C>T | NM_001406881.1:c.959C>G | NM_001406881.1:c.959C>A |
| PMS2 transcript variant 25 | NM_001406876.1:c.950= | NM_001406876.1:c.950C>T | NM_001406876.1:c.950C>G | NM_001406876.1:c.950C>A |
| PMS2 transcript variant 49 | NM_001406900.1:c.803= | NM_001406900.1:c.803C>T | NM_001406900.1:c.803C>G | NM_001406900.1:c.803C>A |
| PMS2 transcript variant 32 | NM_001406883.1:c.950= | NM_001406883.1:c.950C>T | NM_001406883.1:c.950C>G | NM_001406883.1:c.950C>A |
| PMS2 transcript variant 18 | NM_001406869.1:c.1160= | NM_001406869.1:c.1160C>T | NM_001406869.1:c.1160C>G | NM_001406869.1:c.1160C>A |
| PMS2 transcript variant 54 | NM_001406905.1:c.755= | NM_001406905.1:c.755C>T | NM_001406905.1:c.755C>G | NM_001406905.1:c.755C>A |
| PMS2 transcript variant 19 | NM_001406870.1:c.1112= | NM_001406870.1:c.1112C>T | NM_001406870.1:c.1112C>G | NM_001406870.1:c.1112C>A |
| PMS2 transcript variant 20 | NM_001406871.1:c.1268= | NM_001406871.1:c.1268C>T | NM_001406871.1:c.1268C>G | NM_001406871.1:c.1268C>A |
| PMS2 transcript variant 55 | NM_001406906.1:c.707= | NM_001406906.1:c.707C>T | NM_001406906.1:c.707C>G | NM_001406906.1:c.707C>A |
| PMS2 transcript variant 53 | NM_001406904.1:c.755= | NM_001406904.1:c.755C>T | NM_001406904.1:c.755C>G | NM_001406904.1:c.755C>A |
| PMS2 transcript variant 22 | NM_001406874.1:c.1100= | NM_001406874.1:c.1100C>T | NM_001406874.1:c.1100C>G | NM_001406874.1:c.1100C>A |
| PMS2 transcript variant 21 | NM_001406872.1:c.1268= | NM_001406872.1:c.1268C>T | NM_001406872.1:c.1268C>G | NM_001406872.1:c.1268C>A |
| PMS2 transcript variant 57 | NM_001406908.1:c.863= | NM_001406908.1:c.863C>T | NM_001406908.1:c.863C>G | NM_001406908.1:c.863C>A |
| PMS2 transcript variant 45 | NM_001406896.1:c.863= | NM_001406896.1:c.863C>T | NM_001406896.1:c.863C>G | NM_001406896.1:c.863C>A |
| PMS2 transcript variant 44 | NM_001406895.1:c.863= | NM_001406895.1:c.863C>T | NM_001406895.1:c.863C>G | NM_001406895.1:c.863C>A |
| PMS2 transcript variant 23 | NM_001406873.1:c.1070= | NM_001406873.1:c.1070C>T | NM_001406873.1:c.1070C>G | NM_001406873.1:c.1070C>A |
| PMS2 transcript variant 56 | NM_001406907.1:c.707= | NM_001406907.1:c.707C>T | NM_001406907.1:c.707C>G | NM_001406907.1:c.707C>A |
| PMS2 transcript variant 58 | NM_001406909.1:c.695= | NM_001406909.1:c.695C>T | NM_001406909.1:c.695C>G | NM_001406909.1:c.695C>A |
| PMS2 transcript variant 50 | NM_001406901.1:c.794= | NM_001406901.1:c.794C>T | NM_001406901.1:c.794C>G | NM_001406901.1:c.794C>A |
| PMS2 transcript variant 51 | NM_001406902.1:c.794= | NM_001406902.1:c.794C>T | NM_001406902.1:c.794C>G | NM_001406902.1:c.794C>A |
| PMS2 transcript variant 52 | NM_001406903.1:c.950= | NM_001406903.1:c.950C>T | NM_001406903.1:c.950C>G | NM_001406903.1:c.950C>A |
| PMS2 transcript variant 59 | NM_001406910.1:c.863= | NM_001406910.1:c.863C>T | NM_001406910.1:c.863C>G | NM_001406910.1:c.863C>A |
| PMS2 transcript variant 33 | NM_001406884.1:c.944= | NM_001406884.1:c.944C>T | NM_001406884.1:c.944C>G | NM_001406884.1:c.944C>A |
| PMS2 transcript variant 34 | NM_001406885.1:c.932= | NM_001406885.1:c.932C>T | NM_001406885.1:c.932C>G | NM_001406885.1:c.932C>A |
| PMS2 transcript variant 35 | NM_001406886.1:c.902= | NM_001406886.1:c.902C>T | NM_001406886.1:c.902C>G | NM_001406886.1:c.902C>A |
| PMS2 transcript variant 60 | NM_001406911.1:c.497= | NM_001406911.1:c.497C>T | NM_001406911.1:c.497C>G | NM_001406911.1:c.497C>A |
| PMS2 transcript variant X5 | XM_024446800.2:c.707= | XM_024446800.2:c.707C>T | XM_024446800.2:c.707C>G | XM_024446800.2:c.707C>A |
| PMS2 transcript variant 2 | NR_003085.2:n.1350= | NR_003085.2:n.1350C>T | NR_003085.2:n.1350C>G | NR_003085.2:n.1350C>A |
| PMS2 transcript variant X1 | XM_047420482.1:c.1313= | XM_047420482.1:c.1313C>T | XM_047420482.1:c.1313C>G | XM_047420482.1:c.1313C>A |
| PMS2 transcript variant X2 | XM_047420483.1:c.1262= | XM_047420483.1:c.1262C>T | XM_047420483.1:c.1262C>G | XM_047420483.1:c.1262C>A |
| PMS2 transcript variant X3 | XM_047420484.1:c.1157= | XM_047420484.1:c.1157C>T | XM_047420484.1:c.1157C>G | XM_047420484.1:c.1157C>A |
| PMS2 transcript variant X4 | XM_047420485.1:c.950= | XM_047420485.1:c.950C>T | XM_047420485.1:c.950C>G | XM_047420485.1:c.950C>A |
| PMS2 transcript variant X4 | XM_047420486.1:c.335= | XM_047420486.1:c.335C>T | XM_047420486.1:c.335C>G | XM_047420486.1:c.335C>A |
| PMS2 transcript variant 2 | NM_001018040.1:c.863= | NM_001018040.1:c.863C>T | NM_001018040.1:c.863C>G | NM_001018040.1:c.863C>A |
| mismatch repair endonuclease PMS2 isoform a | NP_000526.2:p.Ala423= | NP_000526.2:p.Ala423Val | NP_000526.2:p.Ala423Gly | NP_000526.2:p.Ala423Asp |
| mismatch repair endonuclease PMS2 isoform e | NP_001308938.1:p.Ala288= | NP_001308938.1:p.Ala288Val | NP_001308938.1:p.Ala288Gly | NP_001308938.1:p.Ala288Asp |
| mismatch repair endonuclease PMS2 isoform b | NP_001308934.1:p.Ala288= | NP_001308934.1:p.Ala288Val | NP_001308934.1:p.Ala288Gly | NP_001308934.1:p.Ala288Asp |
| mismatch repair endonuclease PMS2 isoform j | NP_001308944.1:p.Ala320= | NP_001308944.1:p.Ala320Val | NP_001308944.1:p.Ala320Gly | NP_001308944.1:p.Ala320Asp |
| mismatch repair endonuclease PMS2 isoform i | NP_001308943.1:p.Ala423= | NP_001308943.1:p.Ala423Val | NP_001308943.1:p.Ala423Gly | NP_001308943.1:p.Ala423Asp |
| mismatch repair endonuclease PMS2 isoform b | NP_001308932.1:p.Ala288= | NP_001308932.1:p.Ala288Val | NP_001308932.1:p.Ala288Gly | NP_001308932.1:p.Ala288Asp |
| mismatch repair endonuclease PMS2 isoform g | NP_001308940.1:p.Ala112= | NP_001308940.1:p.Ala112Val | NP_001308940.1:p.Ala112Gly | NP_001308940.1:p.Ala112Asp |
| mismatch repair endonuclease PMS2 isoform g | NP_001308941.1:p.Ala112= | NP_001308941.1:p.Ala112Val | NP_001308941.1:p.Ala112Gly | NP_001308941.1:p.Ala112Asp |
| mismatch repair endonuclease PMS2 isoform d | NP_001308936.1:p.Ala317= | NP_001308936.1:p.Ala317Val | NP_001308936.1:p.Ala317Gly | NP_001308936.1:p.Ala317Asp |
| mismatch repair endonuclease PMS2 isoform b | NP_001308933.1:p.Ala288= | NP_001308933.1:p.Ala288Val | NP_001308933.1:p.Ala288Gly | NP_001308933.1:p.Ala288Asp |
| mismatch repair endonuclease PMS2 isoform c | NP_001308935.1:p.Ala371= | NP_001308935.1:p.Ala371Val | NP_001308935.1:p.Ala371Gly | NP_001308935.1:p.Ala371Asp |
| mismatch repair endonuclease PMS2 isoform h | NP_001308942.1:p.Ala232= | NP_001308942.1:p.Ala232Val | NP_001308942.1:p.Ala232Gly | NP_001308942.1:p.Ala232Asp |
| mismatch repair endonuclease PMS2 isoform d | NP_001308937.1:p.Ala317= | NP_001308937.1:p.Ala317Val | NP_001308937.1:p.Ala317Gly | NP_001308937.1:p.Ala317Asp |
| mismatch repair endonuclease PMS2 isoform f | NP_001308939.1:p.Ala236= | NP_001308939.1:p.Ala236Val | NP_001308939.1:p.Ala236Gly | NP_001308939.1:p.Ala236Asp |
| mismatch repair endonuclease PMS2 isoform X5 | XP_024302568.1:p.Ala236= | XP_024302568.1:p.Ala236Val | XP_024302568.1:p.Ala236Gly | XP_024302568.1:p.Ala236Asp |
| mismatch repair endonuclease PMS2 isoform X1 | XP_047276438.1:p.Ala438= | XP_047276438.1:p.Ala438Val | XP_047276438.1:p.Ala438Gly | XP_047276438.1:p.Ala438Asp |
| mismatch repair endonuclease PMS2 isoform X2 | XP_047276439.1:p.Ala421= | XP_047276439.1:p.Ala421Val | XP_047276439.1:p.Ala421Gly | XP_047276439.1:p.Ala421Asp |
| mismatch repair endonuclease PMS2 isoform X3 | XP_047276440.1:p.Ala386= | XP_047276440.1:p.Ala386Val | XP_047276440.1:p.Ala386Gly | XP_047276440.1:p.Ala386Asp |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276441.1:p.Ala317= | XP_047276441.1:p.Ala317Val | XP_047276441.1:p.Ala317Gly | XP_047276441.1:p.Ala317Asp |
| mismatch repair endonuclease PMS2 isoform X4 | XP_047276442.1:p.Ala112= | XP_047276442.1:p.Ala112Val | XP_047276442.1:p.Ala112Gly | XP_047276442.1:p.Ala112Asp |
| mismatch repair endonuclease PMS2 isoform a | NP_000526.1:p.Ala423= | NP_000526.1:p.Ala423Val | NP_000526.1:p.Ala423Gly | NP_000526.1:p.Ala423Asp |
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#.
10 SubSNP,
8 Frequency,
8 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_DECODE | ss1593452105 | Apr 01, 2015 (144) |
| 2 | EVA_EXAC | ss1688637161 | Apr 01, 2015 (144) |
| 3 | CLINVAR | ss1751110267 | May 21, 2015 (136) |
| 4 | CLINVAR | ss1751111501 | May 21, 2015 (136) |
| 5 | GNOMAD | ss2736277782 | Nov 08, 2017 (151) |
| 6 | GNOMAD | ss2747772804 | Nov 08, 2017 (151) |
| 7 | GNOMAD | ss2849159049 | Nov 08, 2017 (151) |
| 8 | TOPMED | ss4733765448 | Apr 26, 2021 (155) |
| 9 | TOPMED | ss4733765449 | Apr 26, 2021 (155) |
| 10 | EVA | ss5935850150 | Oct 14, 2022 (156) |
| 11 | ExAC | NC_000007.13 - 6027128 | Oct 12, 2018 (152) |
| 12 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 13 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 14 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 15 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 16 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 17 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 18 | ALFA | NC_000007.14 - 5987497 | Apr 26, 2021 (155) |
| 19 | ClinVar | RCV000164345.8 | Oct 14, 2022 (156) |
| 20 | ClinVar | RCV000165790.4 | Apr 26, 2021 (155) |
| 21 | ClinVar | RCV000234512.7 | Oct 14, 2022 (156) |
| 22 | ClinVar | RCV000486789.8 | Oct 14, 2022 (156) |
| 23 | ClinVar | RCV000524430.8 | Oct 14, 2022 (156) |
| 24 | ClinVar | RCV000657013.3 | Oct 14, 2022 (156) |
| 25 | ClinVar | RCV000777464.2 | Apr 26, 2021 (155) |
| 26 | ClinVar | RCV001217614.5 | Oct 14, 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) |
|---|---|
| rs786201851 | Jun 25, 2015 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5935850150 | NC_000007.13:6027127:G:A | NC_000007.14:5987496:G:A | |
| RCV000165790.4, RCV001217614.5, 7890870367, ss1751111501, ss4733765448 | NC_000007.14:5987496:G:A | NC_000007.14:5987496:G:A | (self) |
| ss1593452105 | NC_000007.12:5993653:G:C | NC_000007.14:5987496:G:C | (self) |
| 8694928, ss1688637161, ss2736277782, ss2747772804, ss2849159049, ss5935850150 | NC_000007.13:6027127:G:C | NC_000007.14:5987496:G:C | (self) |
| RCV000164345.8, RCV000234512.7, RCV000486789.8, RCV000524430.8, RCV000657013.3, 7890870367, ss1751110267, ss4733765449 | NC_000007.14:5987496:G:C | NC_000007.14:5987496:G:C | (self) |
| ss2736277782, ss5935850150 | NC_000007.13:6027127:G:T | NC_000007.14:5987496:G:T | (self) |
| RCV000777464.2 | NC_000007.14:5987496:G:T | NC_000007.14:5987496:G:T | (self) |
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 rs756883400
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.