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.
rs104894619
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr17:15231047 (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
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.0052692 (7384/1401350, GnomAD_exomes)A=0.002837 (751/264690, TOPMED)A=0.005030 (1106/219884, ALFA) (+ 14 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- PMP22 : Missense Variant
- Publications
- 12 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 219884 | G=0.994970 | A=0.005030 | 0.989958 | 1.8e-05 | 0.010023 | 0 |
| European | Sub | 184304 | G=0.994368 | A=0.005632 | 0.988758 | 0.000022 | 0.011221 | 0 |
| African | Sub | 9792 | G=0.9994 | A=0.0006 | 0.998775 | 0.0 | 0.001225 | 0 |
| African Others | Sub | 360 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 9432 | G=0.9994 | A=0.0006 | 0.998728 | 0.0 | 0.001272 | 0 |
| Asian | Sub | 6348 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 4502 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 1846 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 790 | G=0.999 | A=0.001 | 0.997468 | 0.0 | 0.002532 | 0 |
| Latin American 2 | Sub | 966 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 280 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 17404 | G=0.99650 | A=0.00350 | 0.99299 | 0.0 | 0.00701 | 0 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD v4 - Exomes | Global | Study-wide | 1401350 | G=0.9947308 | A=0.0052692 |
| gnomAD v4 - Exomes | European | Sub | 1165324 | G=0.9939227 | A=0.0060773 |
| gnomAD v4 - Exomes | South Asian | Sub | 86254 | G=0.99861 | A=0.00139 |
| gnomAD v4 - Exomes | American | Sub | 44724 | G=0.99937 | A=0.00063 |
| gnomAD v4 - Exomes | East Asian | Sub | 39700 | G=0.99992 | A=0.00008 |
| gnomAD v4 - Exomes | African | Sub | 33478 | G=0.99949 | A=0.00051 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26136 | G=0.99510 | A=0.00490 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5734 | G=0.9990 | A=0.0010 |
| TopMed | Global | Study-wide | 264690 | G=0.997163 | A=0.002837 |
| Allele Frequency Aggregator | Total | Global | 219884 | G=0.994970 | A=0.005030 |
| Allele Frequency Aggregator | European | Sub | 184304 | G=0.994368 | A=0.005632 |
| Allele Frequency Aggregator | Other | Sub | 17404 | G=0.99650 | A=0.00350 |
| Allele Frequency Aggregator | African | Sub | 9792 | G=0.9994 | A=0.0006 |
| Allele Frequency Aggregator | Asian | Sub | 6348 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 966 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 790 | G=0.999 | A=0.001 |
| Allele Frequency Aggregator | South Asian | Sub | 280 | G=1.000 | A=0.000 |
| gnomAD v4 - Genomes | Global | Study-wide | 149330 | G=0.996324 | A=0.003676 |
| gnomAD v4 - Genomes | European | Sub | 78668 | G=0.99395 | A=0.00605 |
| gnomAD v4 - Genomes | African | Sub | 41582 | G=0.99921 | A=0.00079 |
| gnomAD v4 - Genomes | American | Sub | 15308 | G=0.99915 | A=0.00085 |
| gnomAD v4 - Genomes | East Asian | Sub | 5172 | G=0.9998 | A=0.0002 |
| gnomAD v4 - Genomes | South Asian | Sub | 4834 | G=0.9990 | A=0.0010 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3472 | G=0.9940 | A=0.0060 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | G=1.000 | A=0.000 |
| ExAC | Global | Study-wide | 120452 | G=0.995318 | A=0.004682 |
| ExAC | Europe | Sub | 72640 | G=0.99270 | A=0.00730 |
| ExAC | Asian | Sub | 25110 | G=0.99920 | A=0.00080 |
| ExAC | American | Sub | 11550 | G=0.99957 | A=0.00043 |
| ExAC | African | Sub | 10256 | G=0.99922 | A=0.00078 |
| ExAC | Other | Sub | 896 | G=0.999 | A=0.001 |
| The PAGE Study | Global | Study-wide | 78694 | G=0.99905 | A=0.00095 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | G=0.99883 | A=0.00117 |
| The PAGE Study | Mexican | Sub | 10808 | G=0.99963 | A=0.00037 |
| The PAGE Study | Asian | Sub | 8316 | G=1.0000 | A=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7916 | G=0.9995 | A=0.0005 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.9982 | A=0.0018 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.9974 | A=0.0026 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.9995 | A=0.0005 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9996 | A=0.0004 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.9985 | A=0.0015 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.9976 | A=0.0024 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.999 | A=0.001 |
| 1000Genomes_30X | Global | Study-wide | 6404 | G=0.9994 | A=0.0006 |
| 1000Genomes_30X | African | Sub | 1786 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | Europe | Sub | 1266 | G=0.9984 | A=0.0016 |
| 1000Genomes_30X | South Asian | Sub | 1202 | G=0.9983 | A=0.0017 |
| 1000Genomes_30X | East Asian | Sub | 1170 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | American | Sub | 980 | G=1.000 | A=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9992 | A=0.0008 |
| 1000Genomes | African | Sub | 1322 | G=1.0000 | A=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.0000 | A=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9980 | A=0.0020 |
| 1000Genomes | South Asian | Sub | 978 | G=0.998 | A=0.002 |
| 1000Genomes | American | Sub | 694 | G=1.000 | A=0.000 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9864 | A=0.0136 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9953 | A=0.0047 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9954 | A=0.0046 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.995 | A=0.005 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.993 | A=0.007 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.994 | A=0.006 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.993 | A=0.007 |
| SGDP_PRJ | Global | Study-wide | 4 | G=0.5 | A=0.5 |
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 17 | NC_000017.11:g.15231047G>A |
| GRCh38.p14 chr 17 | NC_000017.11:g.15231047G>C |
| GRCh37.p13 chr 17 | NC_000017.10:g.15134364G>A |
| GRCh37.p13 chr 17 | NC_000017.10:g.15134364G>C |
| PMP22 RefSeqGene (LRG_263) | NG_007949.1:g.39281C>T |
| PMP22 RefSeqGene (LRG_263) | NG_007949.1:g.39281C>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PMP22 transcript variant 8 | NM_001330143.2:c. | N/A | Genic Downstream Transcript Variant |
| PMP22 transcript variant 1 | NM_000304.4:c.353C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_000295.1:p.Thr118Met | T (Thr) > M (Met) | Missense Variant |
| PMP22 transcript variant 1 | NM_000304.4:c.353C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_000295.1:p.Thr118Arg | T (Thr) > R (Arg) | Missense Variant |
| PMP22 transcript variant 3 | NM_153322.3:c.353C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_696997.1:p.Thr118Met | T (Thr) > M (Met) | Missense Variant |
| PMP22 transcript variant 3 | NM_153322.3:c.353C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_696997.1:p.Thr118Arg | T (Thr) > R (Arg) | Missense Variant |
| PMP22 transcript variant 5 | NM_001281456.2:c.353C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_001268385.1:p.Thr118Met | T (Thr) > M (Met) | Missense Variant |
| PMP22 transcript variant 5 | NM_001281456.2:c.353C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_001268385.1:p.Thr118Arg | T (Thr) > R (Arg) | Missense Variant |
| PMP22 transcript variant 2 | NM_153321.3:c.353C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_696996.1:p.Thr118Met | T (Thr) > M (Met) | Missense Variant |
| PMP22 transcript variant 2 | NM_153321.3:c.353C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_696996.1:p.Thr118Arg | T (Thr) > R (Arg) | Missense Variant |
| PMP22 transcript variant 4 | NM_001281455.2:c.353C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_001268384.1:p.Thr118Met | T (Thr) > M (Met) | Missense Variant |
| PMP22 transcript variant 4 | NM_001281455.2:c.353C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| peripheral myelin protein 22 isoform 1 | NP_001268384.1:p.Thr118Arg | T (Thr) > R (Arg) | Missense Variant |
| PMP22 transcript variant 6 | NR_104017.2:n.448C>T | N/A | Non Coding Transcript Variant |
| PMP22 transcript variant 6 | NR_104017.2:n.448C>G | N/A | Non Coding Transcript Variant |
| PMP22 transcript variant 7 | NR_104018.2:n.348C>T | N/A | Non Coding Transcript Variant |
| PMP22 transcript variant 7 | NR_104018.2:n.348C>G | N/A | Non Coding Transcript Variant |
| PMP22 transcript variant X1 | XM_047436306.1:c.*1496= | N/A | 3 Prime UTR Variant |
| PMP22 transcript variant X2 | XM_024450806.2:c. | 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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000008945.11 | Charcot-Marie-Tooth disease, type 1a, autosomal recessive | Pathogenic |
| RCV000008946.27 | Hereditary liability to pressure palsies | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000032119.12 | Charcot-Marie-Tooth disease, type IA | Uncertain-Significance |
| RCV000194789.19 | not specified | Uncertain-Significance |
| RCV000197572.24 | Charcot-Marie-Tooth disease, type I | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000224441.53 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
| RCV001027473.10 | Charcot-Marie-Tooth disease | Uncertain-Significance |
| RCV001507314.11 | Tip-toe gait | Likely-Pathogenic |
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 |
|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.15231047= | NC_000017.11:g.15231047G>A | NC_000017.11:g.15231047G>C |
| GRCh37.p13 chr 17 | NC_000017.10:g.15134364= | NC_000017.10:g.15134364G>A | NC_000017.10:g.15134364G>C |
| PMP22 RefSeqGene (LRG_263) | NG_007949.1:g.39281= | NG_007949.1:g.39281C>T | NG_007949.1:g.39281C>G |
| PMP22 transcript variant 1 | NM_000304.4:c.353= | NM_000304.4:c.353C>T | NM_000304.4:c.353C>G |
| PMP22 transcript variant 1 | NM_000304.3:c.353= | NM_000304.3:c.353C>T | NM_000304.3:c.353C>G |
| PMP22 transcript variant 2 | NM_153321.3:c.353= | NM_153321.3:c.353C>T | NM_153321.3:c.353C>G |
| PMP22 transcript variant 2 | NM_153321.2:c.353= | NM_153321.2:c.353C>T | NM_153321.2:c.353C>G |
| PMP22 transcript variant 3 | NM_153322.3:c.353= | NM_153322.3:c.353C>T | NM_153322.3:c.353C>G |
| PMP22 transcript variant 3 | NM_153322.2:c.353= | NM_153322.2:c.353C>T | NM_153322.2:c.353C>G |
| PMP22 transcript variant 5 | NM_001281456.2:c.353= | NM_001281456.2:c.353C>T | NM_001281456.2:c.353C>G |
| PMP22 transcript variant 5 | NM_001281456.1:c.353= | NM_001281456.1:c.353C>T | NM_001281456.1:c.353C>G |
| PMP22 transcript variant 4 | NM_001281455.2:c.353= | NM_001281455.2:c.353C>T | NM_001281455.2:c.353C>G |
| PMP22 transcript variant 4 | NM_001281455.1:c.353= | NM_001281455.1:c.353C>T | NM_001281455.1:c.353C>G |
| PMP22 transcript variant 6 | NR_104017.2:n.448= | NR_104017.2:n.448C>T | NR_104017.2:n.448C>G |
| PMP22 transcript variant 6 | NR_104017.1:n.479= | NR_104017.1:n.479C>T | NR_104017.1:n.479C>G |
| PMP22 transcript variant 7 | NR_104018.2:n.348= | NR_104018.2:n.348C>T | NR_104018.2:n.348C>G |
| PMP22 transcript variant 7 | NR_104018.1:n.379= | NR_104018.1:n.379C>T | NR_104018.1:n.379C>G |
| PMP22 transcript variant X1 | XM_047436306.1:c.*1496= | XM_047436306.1:c.*1496C>T | XM_047436306.1:c.*1496C>G |
| peripheral myelin protein 22 isoform 1 | NP_000295.1:p.Thr118= | NP_000295.1:p.Thr118Met | NP_000295.1:p.Thr118Arg |
| peripheral myelin protein 22 isoform 1 | NP_696996.1:p.Thr118= | NP_696996.1:p.Thr118Met | NP_696996.1:p.Thr118Arg |
| peripheral myelin protein 22 isoform 1 | NP_696997.1:p.Thr118= | NP_696997.1:p.Thr118Met | NP_696997.1:p.Thr118Arg |
| peripheral myelin protein 22 isoform 1 | NP_001268385.1:p.Thr118= | NP_001268385.1:p.Thr118Met | NP_001268385.1:p.Thr118Arg |
| peripheral myelin protein 22 isoform 1 | NP_001268384.1:p.Thr118= | NP_001268384.1:p.Thr118Met | NP_001268384.1:p.Thr118Arg |
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 | OMICIA | ss244239607 | Aug 29, 2012 (137) |
| 2 | OMIM-CURATED-RECORDS | ss263194021 | Oct 28, 2010 (133) |
| 3 | NHLBI-ESP | ss342446112 | May 09, 2011 (134) |
| 4 | 1000GENOMES | ss464833726 | Sep 17, 2011 (135) |
| 5 | 1000GENOMES | ss491117629 | May 04, 2012 (137) |
| 6 | EXOME_CHIP | ss491518004 | May 04, 2012 (137) |
| 7 | CLINSEQ_SNP | ss491731112 | May 04, 2012 (137) |
| 8 | GENEREVIEWS | ss550898242 | Nov 13, 2012 (137) |
| 9 | ILLUMINA | ss780725554 | Sep 08, 2015 (146) |
| 10 | ILLUMINA | ss783401599 | Sep 08, 2015 (146) |
| 11 | EVA-GONL | ss992961845 | Aug 21, 2014 (142) |
| 12 | 1000GENOMES | ss1358046030 | Aug 21, 2014 (142) |
| 13 | EVA_FINRISK | ss1584104563 | Apr 01, 2015 (144) |
| 14 | EVA_UK10K_ALSPAC | ss1635365068 | Apr 01, 2015 (144) |
| 15 | EVA_UK10K_TWINSUK | ss1678359101 | Apr 01, 2015 (144) |
| 16 | EVA_EXAC | ss1692627191 | Apr 01, 2015 (144) |
| 17 | EVA_DECODE | ss1697004400 | Apr 01, 2015 (144) |
| 18 | EVA_MGP | ss1711449853 | Apr 01, 2015 (144) |
| 19 | ILLUMINA | ss1752216421 | Sep 08, 2015 (146) |
| 20 | ILLUMINA | ss1917915299 | Feb 12, 2016 (147) |
| 21 | ILLUMINA | ss1946432521 | Feb 12, 2016 (147) |
| 22 | ILLUMINA | ss1959728558 | Feb 12, 2016 (147) |
| 23 | JJLAB | ss2028994063 | Sep 14, 2016 (149) |
| 24 | HUMAN_LONGEVITY | ss2215793540 | Dec 20, 2016 (150) |
| 25 | GNOMAD | ss2742480972 | Nov 08, 2017 (151) |
| 26 | GNOMAD | ss2749700944 | Nov 08, 2017 (151) |
| 27 | GNOMAD | ss2948075561 | Nov 08, 2017 (151) |
| 28 | AFFY | ss2985087760 | Nov 08, 2017 (151) |
| 29 | SWEGEN | ss3015254807 | Nov 08, 2017 (151) |
| 30 | ILLUMINA | ss3021759813 | Nov 08, 2017 (151) |
| 31 | ILLUMINA | ss3625705672 | Oct 12, 2018 (152) |
| 32 | ILLUMINA | ss3627636310 | Oct 12, 2018 (152) |
| 33 | ILLUMINA | ss3634667341 | Oct 12, 2018 (152) |
| 34 | ILLUMINA | ss3640374660 | Oct 12, 2018 (152) |
| 35 | ILLUMINA | ss3644683011 | Oct 12, 2018 (152) |
| 36 | ILLUMINA | ss3652173018 | Oct 12, 2018 (152) |
| 37 | ILLUMINA | ss3653860264 | Oct 12, 2018 (152) |
| 38 | EGCUT_WGS | ss3682221492 | Jul 13, 2019 (153) |
| 39 | EVA_DECODE | ss3700158125 | Jul 13, 2019 (153) |
| 40 | ILLUMINA | ss3725606879 | Jul 13, 2019 (153) |
| 41 | ACPOP | ss3741906017 | Jul 13, 2019 (153) |
| 42 | ILLUMINA | ss3744440408 | Jul 13, 2019 (153) |
| 43 | ILLUMINA | ss3744967675 | Jul 13, 2019 (153) |
| 44 | PAGE_CC | ss3771916558 | Jul 13, 2019 (153) |
| 45 | ILLUMINA | ss3772465670 | Jul 13, 2019 (153) |
| 46 | EVA | ss3825084189 | Apr 27, 2020 (154) |
| 47 | EVA | ss3825893579 | Apr 27, 2020 (154) |
| 48 | SGDP_PRJ | ss3885417357 | Apr 27, 2020 (154) |
| 49 | EVA | ss3986715167 | Apr 26, 2021 (155) |
| 50 | EVA | ss6273190421 | Nov 01, 2024 (157) |
| 51 | EVA | ss6317083964 | Nov 01, 2024 (157) |
| 52 | EVA | ss6322570558 | Nov 01, 2024 (157) |
| 53 | EVA | ss6349925359 | Nov 01, 2024 (157) |
| 54 | GNOMAD | ss6459447254 | Nov 01, 2024 (157) |
| 55 | TOPMED | ss8030587311 | Nov 01, 2024 (157) |
| 56 | TOMMO_GENOMICS | ss8221654834 | Nov 01, 2024 (157) |
| 57 | EVA | ss8237668326 | Nov 01, 2024 (157) |
| 58 | 1000G_HIGH_COVERAGE | ss8302552794 | Nov 01, 2024 (157) |
| 59 | EVA | ss8426610221 | Nov 01, 2024 (157) |
| 60 | HUGCELL_USP | ss8495717286 | Nov 01, 2024 (157) |
| 61 | 1000G_HIGH_COVERAGE | ss8605958932 | Nov 01, 2024 (157) |
| 62 | SANFORD_IMAGENETICS | ss8624393788 | Nov 01, 2024 (157) |
| 63 | SANFORD_IMAGENETICS | ss8659795759 | Nov 01, 2024 (157) |
| 64 | EVA | ss8833771941 | Nov 01, 2024 (157) |
| 65 | EVA | ss8847790981 | Nov 01, 2024 (157) |
| 66 | EVA | ss8848442602 | Nov 01, 2024 (157) |
| 67 | EVA | ss8913368857 | Nov 01, 2024 (157) |
| 68 | EVA | ss8951210147 | Nov 01, 2024 (157) |
| 69 | EVA | ss8979502182 | Nov 01, 2024 (157) |
| 70 | EVA | ss8982277406 | Nov 01, 2024 (157) |
| 71 | GNOMAD | ss10011246779 | Nov 01, 2024 (157) |
| 72 | 1000Genomes | NC_000017.10 - 15134364 | Oct 12, 2018 (152) |
| 73 | 1000Genomes_30X | NC_000017.11 - 15231047 | Nov 01, 2024 (157) |
| 74 | The Avon Longitudinal Study of Parents and Children | NC_000017.10 - 15134364 | Oct 12, 2018 (152) |
| 75 | Genetic variation in the Estonian population | NC_000017.10 - 15134364 | Oct 12, 2018 (152) |
| 76 | ExAC | NC_000017.10 - 15134364 | Oct 12, 2018 (152) |
| 77 | FINRISK | NC_000017.10 - 15134364 | Apr 27, 2020 (154) |
| 78 | gnomAD v4 - Exomes | NC_000017.11 - 15231047 | Nov 01, 2024 (157) |
| 79 | gnomAD v4 - Genomes | NC_000017.11 - 15231047 | Nov 01, 2024 (157) |
| 80 | Genome of the Netherlands Release 5 | NC_000017.10 - 15134364 | Apr 27, 2020 (154) |
| 81 | Medical Genome Project healthy controls from Spanish population | NC_000017.10 - 15134364 | Apr 27, 2020 (154) |
| 82 | Northern Sweden | NC_000017.10 - 15134364 | Jul 13, 2019 (153) |
| 83 | The PAGE Study | NC_000017.11 - 15231047 | Jul 13, 2019 (153) |
| 84 | SGDP_PRJ | NC_000017.10 - 15134364 | Apr 27, 2020 (154) |
| 85 | TopMed | NC_000017.11 - 15231047 | Apr 26, 2021 (155) |
| 86 | UK 10K study - Twins | NC_000017.10 - 15134364 | Oct 12, 2018 (152) |
| 87 | ALFA | NC_000017.11 - 15231047 | Nov 01, 2024 (157) |
| 88 | ClinVar | RCV000008945.11 | Nov 01, 2024 (157) |
| 89 | ClinVar | RCV000008946.27 | Nov 01, 2024 (157) |
| 90 | ClinVar | RCV000032119.12 | Nov 01, 2024 (157) |
| 91 | ClinVar | RCV000194789.19 | Nov 01, 2024 (157) |
| 92 | ClinVar | RCV000197572.24 | Nov 01, 2024 (157) |
| 93 | ClinVar | RCV000224441.53 | Nov 01, 2024 (157) |
| 94 | ClinVar | RCV001027473.10 | Nov 01, 2024 (157) |
| 95 | ClinVar | RCV001507314.11 | Nov 01, 2024 (157) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss491731112, ss1697004400 | NC_000017.9:15075088:G:A | NC_000017.11:15231046:G:A | (self) |
| 71265708, 39529348, 27959740, 3058138, 101024, 17621787, 565613, 15190882, 37434337, 39529348, ss342446112, ss464833726, ss491117629, ss491518004, ss780725554, ss783401599, ss992961845, ss1358046030, ss1584104563, ss1635365068, ss1678359101, ss1692627191, ss1711449853, ss1752216421, ss1917915299, ss1946432521, ss1959728558, ss2028994063, ss2742480972, ss2749700944, ss2948075561, ss2985087760, ss3015254807, ss3021759813, ss3625705672, ss3627636310, ss3634667341, ss3640374660, ss3644683011, ss3652173018, ss3653860264, ss3682221492, ss3741906017, ss3744440408, ss3744967675, ss3772465670, ss3825084189, ss3825893579, ss3885417357, ss3986715167, ss6273190421, ss6317083964, ss6322570558, ss8221654834, ss8426610221, ss8624393788, ss8659795759, ss8833771941, ss8847790981, ss8848442602, ss8951210147, ss8979502182, ss8982277406 | NC_000017.10:15134363:G:A | NC_000017.11:15231046:G:A | (self) |
| RCV000008945.11, RCV000008946.27, RCV000032119.12, RCV000194789.19, RCV000197572.24, RCV000224441.53, RCV001027473.10, RCV001507314.11, 93484867, 54784637, 538752506, 1138027, 246132973, 4587849509, ss244239607, ss263194021, ss550898242, ss2215793540, ss3700158125, ss3725606879, ss3771916558, ss6459447254, ss8030587311, ss8237668326, ss8302552794, ss8495717286, ss8605958932, ss8913368857, ss10011246779 | NC_000017.11:15231046:G:A | NC_000017.11:15231046:G:A | (self) |
| ss6349925359 | NC_000017.10:15134363:G:C | NC_000017.11:15231046:G:C |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 8252046 | Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. | Roa BB et al. | 1993 | Nature genetics |
| 8988161 | PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? | Nelis E et al. | 1997 | Nature genetics |
| 10078969 | Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. | Naef R et al. | 1999 | Neurobiology of disease |
| 10586280 | Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype. | Seeman P et al. | 1999 | Annals of the New York Academy of Sciences |
| 11081809 | PMP22 Thr118Met is not a clinically relevant CMT1 marker. | Young P et al. | 2000 | Journal of neurology |
| 14502374 | Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. | Marques W Jr et al. | 2003 | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas |
| 16437560 | T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. | Shy ME et al. | 2006 | Annals of neurology |
| 19067730 | Severe phenotype with cis-acting heterozygous PMP22 mutations. | Niedrist D et al. | 2009 | Clinical genetics |
| 20301384 | Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. | Bird TD et al. | 1993 | GeneReviews(®) |
| 20301566 | Hereditary Neuropathy with Liability to Pressure Palsies. | Chrestian N et al. | 1993 | GeneReviews(®) |
| 21194947 | Variable phenotypes are associated with PMP22 missense mutations. | Russo M et al. | 2011 | Neuromuscular disorders |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
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.