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.
rs146433004
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:31793653 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.000144 (38/264690, TOPMED)T=0.000044 (11/251494, GnomAD_exome)T=0.000066 (12/182846, ALFA) (+ 6 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- PAX6 : Synonymous 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 | 199258 | C=0.999935 | T=0.000065 |
| European | Sub | 167650 | C=0.999952 | T=0.000048 |
| African | Sub | 8716 | C=0.9995 | T=0.0005 |
| African Others | Sub | 352 | C=1.000 | T=0.000 |
| African American | Sub | 8364 | C=0.9995 | T=0.0005 |
| Asian | Sub | 6256 | C=0.9998 | T=0.0002 |
| East Asian | Sub | 4440 | C=0.9998 | T=0.0002 |
| Other Asian | Sub | 1816 | C=1.0000 | T=0.0000 |
| Latin American 1 | Sub | 796 | C=1.000 | T=0.000 |
| Latin American 2 | Sub | 968 | C=1.000 | T=0.000 |
| South Asian | Sub | 274 | C=1.000 | T=0.000 |
| Other | Sub | 14598 | C=1.00000 | T=0.00000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.999856 | T=0.000144 |
| gnomAD - Exomes | Global | Study-wide | 251494 | C=0.999956 | T=0.000044 |
| gnomAD - Exomes | European | Sub | 135418 | C=0.999978 | T=0.000022 |
| gnomAD - Exomes | Asian | Sub | 49010 | C=0.99998 | T=0.00002 |
| gnomAD - Exomes | American | Sub | 34592 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | African | Sub | 16254 | C=0.99957 | T=0.00043 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | Other | Sub | 6140 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Total | Global | 182846 | C=0.999934 | T=0.000066 |
| Allele Frequency Aggregator | European | Sub | 157510 | C=0.999949 | T=0.000051 |
| Allele Frequency Aggregator | Other | Sub | 13164 | C=1.00000 | T=0.00000 |
| Allele Frequency Aggregator | Asian | Sub | 6256 | C=0.9998 | T=0.0002 |
| Allele Frequency Aggregator | African | Sub | 3878 | C=0.9992 | T=0.0008 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 968 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 796 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | C=1.000 | T=0.000 |
| gnomAD - Genomes | Global | Study-wide | 140236 | C=0.999872 | T=0.000128 |
| gnomAD - Genomes | European | Sub | 75940 | C=0.99995 | T=0.00005 |
| gnomAD - Genomes | African | Sub | 42034 | C=0.99967 | T=0.00033 |
| gnomAD - Genomes | American | Sub | 13652 | C=1.00000 | T=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | C=1.0000 | T=0.0000 |
| ExAC | Global | Study-wide | 121412 | C=0.999926 | T=0.000074 |
| ExAC | Europe | Sub | 73354 | C=0.99997 | T=0.00003 |
| ExAC | Asian | Sub | 25166 | C=0.99996 | T=0.00004 |
| ExAC | American | Sub | 11578 | C=1.00000 | T=0.00000 |
| ExAC | African | Sub | 10406 | C=0.99942 | T=0.00058 |
| ExAC | Other | Sub | 908 | C=1.000 | T=0.000 |
| The PAGE Study | Global | Study-wide | 78694 | C=0.99987 | T=0.00013 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.99972 | T=0.00028 |
| The PAGE Study | Mexican | Sub | 10810 | C=1.00000 | T=0.00000 |
| The PAGE Study | Asian | Sub | 8318 | C=1.0000 | T=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.9999 | T=0.0001 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | C=1.0000 | T=0.0000 |
| The PAGE Study | Cuban | Sub | 4230 | C=1.0000 | T=0.0000 |
| The PAGE Study | Dominican | Sub | 3828 | C=1.0000 | T=0.0000 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=1.0000 | T=0.0000 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=1.0000 | T=0.0000 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=1.0000 | T=0.0000 |
| The PAGE Study | SouthAsian | Sub | 856 | C=1.000 | T=0.000 |
| GO Exome Sequencing Project | Global | Study-wide | 13002 | C=0.99962 | T=0.00038 |
| GO Exome Sequencing Project | European American | Sub | 8598 | C=1.0000 | T=0.0000 |
| GO Exome Sequencing Project | African American | Sub | 4404 | C=0.9989 | T=0.0011 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9997 | T=0.0003 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9989 | T=0.0011 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | C=1.000 | T=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9998 | T=0.0002 |
| 1000Genomes | African | Sub | 1322 | C=0.9992 | T=0.0008 |
| 1000Genomes | East Asian | Sub | 1008 | C=1.0000 | T=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | C=1.0000 | T=0.0000 |
| 1000Genomes | South Asian | Sub | 978 | C=1.000 | T=0.000 |
| 1000Genomes | American | Sub | 694 | C=1.000 | T=0.000 |
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 11 | NC_000011.10:g.31793653C>A |
| GRCh38.p14 chr 11 | NC_000011.10:g.31793653C>T |
| GRCh37.p13 chr 11 | NC_000011.9:g.31815201C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.31815201C>T |
| PAX6 RefSeqGene (LRG_720) | NG_008679.1:g.29309G>T |
| PAX6 RefSeqGene (LRG_720) | NG_008679.1:g.29309G>A |
Gene: PAX6, paired box 6
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PAX6 transcript variant 9 | NM_001310159.1:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform c | NP_001297088.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 9 | NM_001310159.1:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform c | NP_001297088.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 19 | NM_001368894.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001355823.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 19 | NM_001368894.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001355823.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 42 | NM_001368921.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform k | NP_001355850.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 42 | NM_001368921.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform k | NP_001355850.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 29 | NM_001368908.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355837.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 29 | NM_001368908.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355837.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 48 | NM_001368927.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355856.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 48 | NM_001368927.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355856.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 20 | NM_001368899.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355828.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 20 | NM_001368899.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355828.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 22 | NM_001368901.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355830.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 22 | NM_001368901.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355830.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 2 | NM_001604.6:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001595.2:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 2 | NM_001604.6:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001595.2:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 46 | NM_001368925.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355854.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 46 | NM_001368925.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355854.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 50 | NM_001368929.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform n | NP_001355858.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 50 | NM_001368929.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform n | NP_001355858.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 44 | NM_001368923.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355852.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 44 | NM_001368923.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355852.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 23 | NM_001368902.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355831.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 23 | NM_001368902.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355831.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 3 | NM_001127612.3:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001121084.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 3 | NM_001127612.3:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001121084.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 8 | NM_001310158.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001297087.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 8 | NM_001310158.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001297087.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 26 | NM_001368905.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355834.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 26 | NM_001368905.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355834.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 36 | NM_001368915.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform h | NP_001355844.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 36 | NM_001368915.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform h | NP_001355844.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 15 | NM_001368890.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355819.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 15 | NM_001368890.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355819.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 35 | NM_001368914.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform g | NP_001355843.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 35 | NM_001368914.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform g | NP_001355843.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 38 | NM_001368917.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform h | NP_001355846.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 38 | NM_001368917.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform h | NP_001355846.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 14 | NM_001368889.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355818.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 14 | NM_001368889.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355818.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 5 | NM_001258463.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001245392.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 5 | NM_001258463.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001245392.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 25 | NM_001368904.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355833.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 25 | NM_001368904.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355833.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 11 | NM_001310161.3:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001297090.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 11 | NM_001310161.3:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001297090.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 6 | NM_001258464.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001245393.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 6 | NM_001258464.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001245393.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 45 | NM_001368924.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355853.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 45 | NM_001368924.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355853.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 37 | NM_001368916.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform h | NP_001355845.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 37 | NM_001368916.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform h | NP_001355845.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 12 | NM_001368887.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355816.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 12 | NM_001368887.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355816.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 28 | NM_001368907.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355836.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 28 | NM_001368907.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355836.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 40 | NM_001368919.2:c.1032G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform i | NP_001355848.1:p.Pro344= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 40 | NM_001368919.2:c.1032G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform i | NP_001355848.1:p.Pro344= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 33 | NM_001368912.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform g | NP_001355841.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 33 | NM_001368912.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform g | NP_001355841.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 21 | NM_001368900.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355829.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 21 | NM_001368900.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355829.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 32 | NM_001368911.2:c.960G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform f | NP_001355840.1:p.Pro320= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 32 | NM_001368911.2:c.960G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform f | NP_001355840.1:p.Pro320= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 34 | NM_001368913.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform g | NP_001355842.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 34 | NM_001368913.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform g | NP_001355842.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 24 | NM_001368903.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355832.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 24 | NM_001368903.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355832.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 49 | NM_001368928.2:c.714G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform m | NP_001355857.1:p.Pro238= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 49 | NM_001368928.2:c.714G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform m | NP_001355857.1:p.Pro238= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 30 | NM_001368909.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355838.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 30 | NM_001368909.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355838.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 27 | NM_001368906.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355835.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 27 | NM_001368906.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001355835.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 39 | NM_001368918.2:c.1032G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform i | NP_001355847.1:p.Pro344= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 39 | NM_001368918.2:c.1032G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform i | NP_001355847.1:p.Pro344= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 51 | NM_001368930.2:c.312G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform o | NP_001355859.1:p.Pro104= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 51 | NM_001368930.2:c.312G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform o | NP_001355859.1:p.Pro104= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 47 | NM_001368926.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355855.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 47 | NM_001368926.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355855.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 18 | NM_001368893.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001355822.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 18 | NM_001368893.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001355822.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 4 | NM_001258462.3:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001245391.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 4 | NM_001258462.3:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001245391.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 7 | NM_001258465.3:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001245394.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 7 | NM_001258465.3:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001245394.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 16 | NM_001368891.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355820.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 16 | NM_001368891.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355820.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 10 | NM_001310160.2:c.507G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001297089.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 10 | NM_001310160.2:c.507G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform d | NP_001297089.1:p.Pro169= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 13 | NM_001368888.2:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355817.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 13 | NM_001368888.2:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_001355817.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 31 | NM_001368910.2:c.1158G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform e | NP_001355839.1:p.Pro386= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 31 | NM_001368910.2:c.1158G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform e | NP_001355839.1:p.Pro386= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 43 | NM_001368922.2:c.756G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355851.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 43 | NM_001368922.2:c.756G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform l | NP_001355851.1:p.Pro252= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 41 | NM_001368920.2:c.990G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform j | NP_001355849.1:p.Pro330= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 41 | NM_001368920.2:c.990G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform j | NP_001355849.1:p.Pro330= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 17 | NM_001368892.2:c.957G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001355821.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 17 | NM_001368892.2:c.957G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform b | NP_001355821.1:p.Pro319= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 1 | NM_000280.6:c.915G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_000271.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 1 | NM_000280.6:c.915G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| paired box protein Pax-6 isoform a | NP_000271.1:p.Pro305= | P (Pro) > P (Pro) | Synonymous Variant |
| PAX6 transcript variant 52 | NR_160916.2:n.1296G>T | N/A | Non Coding Transcript Variant |
| PAX6 transcript variant 52 | NR_160916.2:n.1296G>A | N/A | Non Coding Transcript Variant |
| PAX6 transcript variant 53 | NR_160917.2:n.1301G>T | N/A | Non Coding Transcript Variant |
| PAX6 transcript variant 53 | NR_160917.2:n.1301G>A | N/A | Non Coding Transcript 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: T (allele ID:
1451640
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV002000490.1 | Aniridia 1,Irido-corneo-trabecular dysgenesis | 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 | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.31793653= | NC_000011.10:g.31793653C>A | NC_000011.10:g.31793653C>T |
| GRCh37.p13 chr 11 | NC_000011.9:g.31815201= | NC_000011.9:g.31815201C>A | NC_000011.9:g.31815201C>T |
| PAX6 RefSeqGene (LRG_720) | NG_008679.1:g.29309= | NG_008679.1:g.29309G>T | NG_008679.1:g.29309G>A |
| PAX6 transcript variant 1 | NM_000280.6:c.915= | NM_000280.6:c.915G>T | NM_000280.6:c.915G>A |
| PAX6 transcript variant 1 | NM_000280.5:c.915= | NM_000280.5:c.915G>T | NM_000280.5:c.915G>A |
| PAX6 transcript variant 1 | NM_000280.4:c.915= | NM_000280.4:c.915G>T | NM_000280.4:c.915G>A |
| PAX6 transcript variant 2 | NM_001604.6:c.957= | NM_001604.6:c.957G>T | NM_001604.6:c.957G>A |
| PAX6 transcript variant 2 | NM_001604.5:c.957= | NM_001604.5:c.957G>T | NM_001604.5:c.957G>A |
| PAX6 transcript variant 4 | NM_001258462.3:c.957= | NM_001258462.3:c.957G>T | NM_001258462.3:c.957G>A |
| PAX6 transcript variant 4 | NM_001258462.2:c.957= | NM_001258462.2:c.957G>T | NM_001258462.2:c.957G>A |
| PAX6 transcript variant 4 | NM_001258462.1:c.957= | NM_001258462.1:c.957G>T | NM_001258462.1:c.957G>A |
| PAX6 transcript variant 3 | NM_001127612.3:c.915= | NM_001127612.3:c.915G>T | NM_001127612.3:c.915G>A |
| PAX6 transcript variant 3 | NM_001127612.2:c.915= | NM_001127612.2:c.915G>T | NM_001127612.2:c.915G>A |
| PAX6 transcript variant 3 | NM_001127612.1:c.915= | NM_001127612.1:c.915G>T | NM_001127612.1:c.915G>A |
| PAX6 transcript variant 7 | NM_001258465.3:c.915= | NM_001258465.3:c.915G>T | NM_001258465.3:c.915G>A |
| PAX6 transcript variant 7 | NM_001258465.2:c.915= | NM_001258465.2:c.915G>T | NM_001258465.2:c.915G>A |
| PAX6 transcript variant 7 | NM_001258465.1:c.915= | NM_001258465.1:c.915G>T | NM_001258465.1:c.915G>A |
| PAX6 transcript variant 11 | NM_001310161.3:c.507= | NM_001310161.3:c.507G>T | NM_001310161.3:c.507G>A |
| PAX6 transcript variant 11 | NM_001310161.2:c.507= | NM_001310161.2:c.507G>T | NM_001310161.2:c.507G>A |
| PAX6 transcript variant 11 | NM_001310161.1:c.507= | NM_001310161.1:c.507G>T | NM_001310161.1:c.507G>A |
| PAX6 transcript variant 10 | NM_001310160.2:c.507= | NM_001310160.2:c.507G>T | NM_001310160.2:c.507G>A |
| PAX6 transcript variant 10 | NM_001310160.1:c.507= | NM_001310160.1:c.507G>T | NM_001310160.1:c.507G>A |
| PAX6 transcript variant 23 | NM_001368902.2:c.507= | NM_001368902.2:c.507G>T | NM_001368902.2:c.507G>A |
| PAX6 transcript variant 23 | NM_001368902.1:c.507= | NM_001368902.1:c.507G>T | NM_001368902.1:c.507G>A |
| PAX6 transcript variant 24 | NM_001368903.2:c.507= | NM_001368903.2:c.507G>T | NM_001368903.2:c.507G>A |
| PAX6 transcript variant 24 | NM_001368903.1:c.507= | NM_001368903.1:c.507G>T | NM_001368903.1:c.507G>A |
| PAX6 transcript variant 28 | NM_001368907.2:c.507= | NM_001368907.2:c.507G>T | NM_001368907.2:c.507G>A |
| PAX6 transcript variant 28 | NM_001368907.1:c.507= | NM_001368907.1:c.507G>T | NM_001368907.1:c.507G>A |
| PAX6 transcript variant 26 | NM_001368905.2:c.507= | NM_001368905.2:c.507G>T | NM_001368905.2:c.507G>A |
| PAX6 transcript variant 26 | NM_001368905.1:c.507= | NM_001368905.1:c.507G>T | NM_001368905.1:c.507G>A |
| PAX6 transcript variant 27 | NM_001368906.2:c.507= | NM_001368906.2:c.507G>T | NM_001368906.2:c.507G>A |
| PAX6 transcript variant 27 | NM_001368906.1:c.507= | NM_001368906.1:c.507G>T | NM_001368906.1:c.507G>A |
| PAX6 transcript variant 50 | NM_001368929.2:c.507= | NM_001368929.2:c.507G>T | NM_001368929.2:c.507G>A |
| PAX6 transcript variant 50 | NM_001368929.1:c.507= | NM_001368929.1:c.507G>T | NM_001368929.1:c.507G>A |
| PAX6 transcript variant 31 | NM_001368910.2:c.1158= | NM_001368910.2:c.1158G>T | NM_001368910.2:c.1158G>A |
| PAX6 transcript variant 31 | NM_001368910.1:c.1158= | NM_001368910.1:c.1158G>T | NM_001368910.1:c.1158G>A |
| PAX6 transcript variant 40 | NM_001368919.2:c.1032= | NM_001368919.2:c.1032G>T | NM_001368919.2:c.1032G>A |
| PAX6 transcript variant 40 | NM_001368919.1:c.1032= | NM_001368919.1:c.1032G>T | NM_001368919.1:c.1032G>A |
| PAX6 transcript variant 19 | NM_001368894.2:c.957= | NM_001368894.2:c.957G>T | NM_001368894.2:c.957G>A |
| PAX6 transcript variant 19 | NM_001368894.1:c.957= | NM_001368894.1:c.957G>T | NM_001368894.1:c.957G>A |
| PAX6 transcript variant 12 | NM_001368887.2:c.915= | NM_001368887.2:c.915G>T | NM_001368887.2:c.915G>A |
| PAX6 transcript variant 12 | NM_001368887.1:c.915= | NM_001368887.1:c.915G>T | NM_001368887.1:c.915G>A |
| PAX6 transcript variant 39 | NM_001368918.2:c.1032= | NM_001368918.2:c.1032G>T | NM_001368918.2:c.1032G>A |
| PAX6 transcript variant 39 | NM_001368918.1:c.1032= | NM_001368918.1:c.1032G>T | NM_001368918.1:c.1032G>A |
| PAX6 transcript variant 18 | NM_001368893.2:c.957= | NM_001368893.2:c.957G>T | NM_001368893.2:c.957G>A |
| PAX6 transcript variant 18 | NM_001368893.1:c.957= | NM_001368893.1:c.957G>T | NM_001368893.1:c.957G>A |
| PAX6 transcript variant 41 | NM_001368920.2:c.990= | NM_001368920.2:c.990G>T | NM_001368920.2:c.990G>A |
| PAX6 transcript variant 41 | NM_001368920.1:c.990= | NM_001368920.1:c.990G>T | NM_001368920.1:c.990G>A |
| PAX6 transcript variant 5 | NM_001258463.2:c.957= | NM_001258463.2:c.957G>T | NM_001258463.2:c.957G>A |
| PAX6 transcript variant 5 | NM_001258463.1:c.957= | NM_001258463.1:c.957G>T | NM_001258463.1:c.957G>A |
| PAX6 transcript variant 15 | NM_001368890.2:c.915= | NM_001368890.2:c.915G>T | NM_001368890.2:c.915G>A |
| PAX6 transcript variant 15 | NM_001368890.1:c.915= | NM_001368890.1:c.915G>T | NM_001368890.1:c.915G>A |
| PAX6 transcript variant 17 | NM_001368892.2:c.957= | NM_001368892.2:c.957G>T | NM_001368892.2:c.957G>A |
| PAX6 transcript variant 17 | NM_001368892.1:c.957= | NM_001368892.1:c.957G>T | NM_001368892.1:c.957G>A |
| PAX6 transcript variant 16 | NM_001368891.2:c.915= | NM_001368891.2:c.915G>T | NM_001368891.2:c.915G>A |
| PAX6 transcript variant 16 | NM_001368891.1:c.915= | NM_001368891.1:c.915G>T | NM_001368891.1:c.915G>A |
| PAX6 transcript variant 13 | NM_001368888.2:c.915= | NM_001368888.2:c.915G>T | NM_001368888.2:c.915G>A |
| PAX6 transcript variant 13 | NM_001368888.1:c.915= | NM_001368888.1:c.915G>T | NM_001368888.1:c.915G>A |
| PAX6 transcript variant 6 | NM_001258464.2:c.915= | NM_001258464.2:c.915G>T | NM_001258464.2:c.915G>A |
| PAX6 transcript variant 6 | NM_001258464.1:c.915= | NM_001258464.1:c.915G>T | NM_001258464.1:c.915G>A |
| PAX6 transcript variant 33 | NM_001368912.2:c.957= | NM_001368912.2:c.957G>T | NM_001368912.2:c.957G>A |
| PAX6 transcript variant 33 | NM_001368912.1:c.957= | NM_001368912.1:c.957G>T | NM_001368912.1:c.957G>A |
| PAX6 transcript variant 8 | NM_001310158.2:c.957= | NM_001310158.2:c.957G>T | NM_001310158.2:c.957G>A |
| PAX6 transcript variant 8 | NM_001310158.1:c.957= | NM_001310158.1:c.957G>T | NM_001310158.1:c.957G>A |
| PAX6 transcript variant 36 | NM_001368915.2:c.915= | NM_001368915.2:c.915G>T | NM_001368915.2:c.915G>A |
| PAX6 transcript variant 36 | NM_001368915.1:c.915= | NM_001368915.1:c.915G>T | NM_001368915.1:c.915G>A |
| PAX6 transcript variant 53 | NR_160917.2:n.1301= | NR_160917.2:n.1301G>T | NR_160917.2:n.1301G>A |
| PAX6 transcript variant 53 | NR_160917.1:n.1301= | NR_160917.1:n.1301G>T | NR_160917.1:n.1301G>A |
| PAX6 transcript variant 38 | NM_001368917.2:c.915= | NM_001368917.2:c.915G>T | NM_001368917.2:c.915G>A |
| PAX6 transcript variant 38 | NM_001368917.1:c.915= | NM_001368917.1:c.915G>T | NM_001368917.1:c.915G>A |
| PAX6 transcript variant 43 | NM_001368922.2:c.756= | NM_001368922.2:c.756G>T | NM_001368922.2:c.756G>A |
| PAX6 transcript variant 43 | NM_001368922.1:c.756= | NM_001368922.1:c.756G>T | NM_001368922.1:c.756G>A |
| PAX6 transcript variant 48 | NM_001368927.2:c.756= | NM_001368927.2:c.756G>T | NM_001368927.2:c.756G>A |
| PAX6 transcript variant 48 | NM_001368927.1:c.756= | NM_001368927.1:c.756G>T | NM_001368927.1:c.756G>A |
| PAX6 transcript variant 35 | NM_001368914.2:c.957= | NM_001368914.2:c.957G>T | NM_001368914.2:c.957G>A |
| PAX6 transcript variant 35 | NM_001368914.1:c.957= | NM_001368914.1:c.957G>T | NM_001368914.1:c.957G>A |
| PAX6 transcript variant 34 | NM_001368913.2:c.957= | NM_001368913.2:c.957G>T | NM_001368913.2:c.957G>A |
| PAX6 transcript variant 34 | NM_001368913.1:c.957= | NM_001368913.1:c.957G>T | NM_001368913.1:c.957G>A |
| PAX6 transcript variant 44 | NM_001368923.2:c.756= | NM_001368923.2:c.756G>T | NM_001368923.2:c.756G>A |
| PAX6 transcript variant 44 | NM_001368923.1:c.756= | NM_001368923.1:c.756G>T | NM_001368923.1:c.756G>A |
| PAX6 transcript variant 21 | NM_001368900.2:c.507= | NM_001368900.2:c.507G>T | NM_001368900.2:c.507G>A |
| PAX6 transcript variant 21 | NM_001368900.1:c.507= | NM_001368900.1:c.507G>T | NM_001368900.1:c.507G>A |
| PAX6 transcript variant 45 | NM_001368924.2:c.756= | NM_001368924.2:c.756G>T | NM_001368924.2:c.756G>A |
| PAX6 transcript variant 45 | NM_001368924.1:c.756= | NM_001368924.1:c.756G>T | NM_001368924.1:c.756G>A |
| PAX6 transcript variant 25 | NM_001368904.2:c.507= | NM_001368904.2:c.507G>T | NM_001368904.2:c.507G>A |
| PAX6 transcript variant 25 | NM_001368904.1:c.507= | NM_001368904.1:c.507G>T | NM_001368904.1:c.507G>A |
| PAX6 transcript variant 37 | NM_001368916.2:c.915= | NM_001368916.2:c.915G>T | NM_001368916.2:c.915G>A |
| PAX6 transcript variant 37 | NM_001368916.1:c.915= | NM_001368916.1:c.915G>T | NM_001368916.1:c.915G>A |
| PAX6 transcript variant 47 | NM_001368926.2:c.756= | NM_001368926.2:c.756G>T | NM_001368926.2:c.756G>A |
| PAX6 transcript variant 47 | NM_001368926.1:c.756= | NM_001368926.1:c.756G>T | NM_001368926.1:c.756G>A |
| PAX6 transcript variant 20 | NM_001368899.2:c.507= | NM_001368899.2:c.507G>T | NM_001368899.2:c.507G>A |
| PAX6 transcript variant 20 | NM_001368899.1:c.507= | NM_001368899.1:c.507G>T | NM_001368899.1:c.507G>A |
| PAX6 transcript variant 46 | NM_001368925.2:c.756= | NM_001368925.2:c.756G>T | NM_001368925.2:c.756G>A |
| PAX6 transcript variant 46 | NM_001368925.1:c.756= | NM_001368925.1:c.756G>T | NM_001368925.1:c.756G>A |
| PAX6 transcript variant 52 | NR_160916.2:n.1296= | NR_160916.2:n.1296G>T | NR_160916.2:n.1296G>A |
| PAX6 transcript variant 52 | NR_160916.1:n.1296= | NR_160916.1:n.1296G>T | NR_160916.1:n.1296G>A |
| PAX6 transcript variant 49 | NM_001368928.2:c.714= | NM_001368928.2:c.714G>T | NM_001368928.2:c.714G>A |
| PAX6 transcript variant 49 | NM_001368928.1:c.714= | NM_001368928.1:c.714G>T | NM_001368928.1:c.714G>A |
| PAX6 transcript variant 29 | NM_001368908.2:c.507= | NM_001368908.2:c.507G>T | NM_001368908.2:c.507G>A |
| PAX6 transcript variant 29 | NM_001368908.1:c.507= | NM_001368908.1:c.507G>T | NM_001368908.1:c.507G>A |
| PAX6 transcript variant 14 | NM_001368889.2:c.915= | NM_001368889.2:c.915G>T | NM_001368889.2:c.915G>A |
| PAX6 transcript variant 14 | NM_001368889.1:c.915= | NM_001368889.1:c.915G>T | NM_001368889.1:c.915G>A |
| PAX6 transcript variant 32 | NM_001368911.2:c.960= | NM_001368911.2:c.960G>T | NM_001368911.2:c.960G>A |
| PAX6 transcript variant 32 | NM_001368911.1:c.960= | NM_001368911.1:c.960G>T | NM_001368911.1:c.960G>A |
| PAX6 transcript variant 42 | NM_001368921.2:c.756= | NM_001368921.2:c.756G>T | NM_001368921.2:c.756G>A |
| PAX6 transcript variant 42 | NM_001368921.1:c.756= | NM_001368921.1:c.756G>T | NM_001368921.1:c.756G>A |
| PAX6 transcript variant 30 | NM_001368909.2:c.507= | NM_001368909.2:c.507G>T | NM_001368909.2:c.507G>A |
| PAX6 transcript variant 30 | NM_001368909.1:c.507= | NM_001368909.1:c.507G>T | NM_001368909.1:c.507G>A |
| PAX6 transcript variant 22 | NM_001368901.2:c.507= | NM_001368901.2:c.507G>T | NM_001368901.2:c.507G>A |
| PAX6 transcript variant 22 | NM_001368901.1:c.507= | NM_001368901.1:c.507G>T | NM_001368901.1:c.507G>A |
| PAX6 transcript variant 51 | NM_001368930.2:c.312= | NM_001368930.2:c.312G>T | NM_001368930.2:c.312G>A |
| PAX6 transcript variant 51 | NM_001368930.1:c.312= | NM_001368930.1:c.312G>T | NM_001368930.1:c.312G>A |
| PAX6 transcript variant 9 | NM_001310159.1:c.915= | NM_001310159.1:c.915G>T | NM_001310159.1:c.915G>A |
| paired box protein Pax-6 isoform a | NP_000271.1:p.Pro305= | NP_000271.1:p.Pro305= | NP_000271.1:p.Pro305= |
| paired box protein Pax-6 isoform b | NP_001595.2:p.Pro319= | NP_001595.2:p.Pro319= | NP_001595.2:p.Pro319= |
| paired box protein Pax-6 isoform b | NP_001245391.1:p.Pro319= | NP_001245391.1:p.Pro319= | NP_001245391.1:p.Pro319= |
| paired box protein Pax-6 isoform a | NP_001121084.1:p.Pro305= | NP_001121084.1:p.Pro305= | NP_001121084.1:p.Pro305= |
| paired box protein Pax-6 isoform a | NP_001245394.1:p.Pro305= | NP_001245394.1:p.Pro305= | NP_001245394.1:p.Pro305= |
| paired box protein Pax-6 isoform d | NP_001297090.1:p.Pro169= | NP_001297090.1:p.Pro169= | NP_001297090.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001297089.1:p.Pro169= | NP_001297089.1:p.Pro169= | NP_001297089.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001355831.1:p.Pro169= | NP_001355831.1:p.Pro169= | NP_001355831.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001355832.1:p.Pro169= | NP_001355832.1:p.Pro169= | NP_001355832.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001355836.1:p.Pro169= | NP_001355836.1:p.Pro169= | NP_001355836.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001355834.1:p.Pro169= | NP_001355834.1:p.Pro169= | NP_001355834.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001355835.1:p.Pro169= | NP_001355835.1:p.Pro169= | NP_001355835.1:p.Pro169= |
| paired box protein Pax-6 isoform n | NP_001355858.1:p.Pro169= | NP_001355858.1:p.Pro169= | NP_001355858.1:p.Pro169= |
| paired box protein Pax-6 isoform e | NP_001355839.1:p.Pro386= | NP_001355839.1:p.Pro386= | NP_001355839.1:p.Pro386= |
| paired box protein Pax-6 isoform i | NP_001355848.1:p.Pro344= | NP_001355848.1:p.Pro344= | NP_001355848.1:p.Pro344= |
| paired box protein Pax-6 isoform b | NP_001355823.1:p.Pro319= | NP_001355823.1:p.Pro319= | NP_001355823.1:p.Pro319= |
| paired box protein Pax-6 isoform a | NP_001355816.1:p.Pro305= | NP_001355816.1:p.Pro305= | NP_001355816.1:p.Pro305= |
| paired box protein Pax-6 isoform i | NP_001355847.1:p.Pro344= | NP_001355847.1:p.Pro344= | NP_001355847.1:p.Pro344= |
| paired box protein Pax-6 isoform b | NP_001355822.1:p.Pro319= | NP_001355822.1:p.Pro319= | NP_001355822.1:p.Pro319= |
| paired box protein Pax-6 isoform j | NP_001355849.1:p.Pro330= | NP_001355849.1:p.Pro330= | NP_001355849.1:p.Pro330= |
| paired box protein Pax-6 isoform b | NP_001245392.1:p.Pro319= | NP_001245392.1:p.Pro319= | NP_001245392.1:p.Pro319= |
| paired box protein Pax-6 isoform a | NP_001355819.1:p.Pro305= | NP_001355819.1:p.Pro305= | NP_001355819.1:p.Pro305= |
| paired box protein Pax-6 isoform b | NP_001355821.1:p.Pro319= | NP_001355821.1:p.Pro319= | NP_001355821.1:p.Pro319= |
| paired box protein Pax-6 isoform a | NP_001355820.1:p.Pro305= | NP_001355820.1:p.Pro305= | NP_001355820.1:p.Pro305= |
| paired box protein Pax-6 isoform a | NP_001355817.1:p.Pro305= | NP_001355817.1:p.Pro305= | NP_001355817.1:p.Pro305= |
| paired box protein Pax-6 isoform a | NP_001245393.1:p.Pro305= | NP_001245393.1:p.Pro305= | NP_001245393.1:p.Pro305= |
| paired box protein Pax-6 isoform g | NP_001355841.1:p.Pro319= | NP_001355841.1:p.Pro319= | NP_001355841.1:p.Pro319= |
| paired box protein Pax-6 isoform b | NP_001297087.1:p.Pro319= | NP_001297087.1:p.Pro319= | NP_001297087.1:p.Pro319= |
| paired box protein Pax-6 isoform h | NP_001355844.1:p.Pro305= | NP_001355844.1:p.Pro305= | NP_001355844.1:p.Pro305= |
| paired box protein Pax-6 isoform h | NP_001355846.1:p.Pro305= | NP_001355846.1:p.Pro305= | NP_001355846.1:p.Pro305= |
| paired box protein Pax-6 isoform l | NP_001355851.1:p.Pro252= | NP_001355851.1:p.Pro252= | NP_001355851.1:p.Pro252= |
| paired box protein Pax-6 isoform l | NP_001355856.1:p.Pro252= | NP_001355856.1:p.Pro252= | NP_001355856.1:p.Pro252= |
| paired box protein Pax-6 isoform g | NP_001355843.1:p.Pro319= | NP_001355843.1:p.Pro319= | NP_001355843.1:p.Pro319= |
| paired box protein Pax-6 isoform g | NP_001355842.1:p.Pro319= | NP_001355842.1:p.Pro319= | NP_001355842.1:p.Pro319= |
| paired box protein Pax-6 isoform l | NP_001355852.1:p.Pro252= | NP_001355852.1:p.Pro252= | NP_001355852.1:p.Pro252= |
| paired box protein Pax-6 isoform d | NP_001355829.1:p.Pro169= | NP_001355829.1:p.Pro169= | NP_001355829.1:p.Pro169= |
| paired box protein Pax-6 isoform l | NP_001355853.1:p.Pro252= | NP_001355853.1:p.Pro252= | NP_001355853.1:p.Pro252= |
| paired box protein Pax-6 isoform d | NP_001355833.1:p.Pro169= | NP_001355833.1:p.Pro169= | NP_001355833.1:p.Pro169= |
| paired box protein Pax-6 isoform h | NP_001355845.1:p.Pro305= | NP_001355845.1:p.Pro305= | NP_001355845.1:p.Pro305= |
| paired box protein Pax-6 isoform l | NP_001355855.1:p.Pro252= | NP_001355855.1:p.Pro252= | NP_001355855.1:p.Pro252= |
| paired box protein Pax-6 isoform d | NP_001355828.1:p.Pro169= | NP_001355828.1:p.Pro169= | NP_001355828.1:p.Pro169= |
| paired box protein Pax-6 isoform l | NP_001355854.1:p.Pro252= | NP_001355854.1:p.Pro252= | NP_001355854.1:p.Pro252= |
| paired box protein Pax-6 isoform m | NP_001355857.1:p.Pro238= | NP_001355857.1:p.Pro238= | NP_001355857.1:p.Pro238= |
| paired box protein Pax-6 isoform d | NP_001355837.1:p.Pro169= | NP_001355837.1:p.Pro169= | NP_001355837.1:p.Pro169= |
| paired box protein Pax-6 isoform a | NP_001355818.1:p.Pro305= | NP_001355818.1:p.Pro305= | NP_001355818.1:p.Pro305= |
| paired box protein Pax-6 isoform f | NP_001355840.1:p.Pro320= | NP_001355840.1:p.Pro320= | NP_001355840.1:p.Pro320= |
| paired box protein Pax-6 isoform k | NP_001355850.1:p.Pro252= | NP_001355850.1:p.Pro252= | NP_001355850.1:p.Pro252= |
| paired box protein Pax-6 isoform d | NP_001355838.1:p.Pro169= | NP_001355838.1:p.Pro169= | NP_001355838.1:p.Pro169= |
| paired box protein Pax-6 isoform d | NP_001355830.1:p.Pro169= | NP_001355830.1:p.Pro169= | NP_001355830.1:p.Pro169= |
| paired box protein Pax-6 isoform o | NP_001355859.1:p.Pro104= | NP_001355859.1:p.Pro104= | NP_001355859.1:p.Pro104= |
| paired box protein Pax-6 isoform c | NP_001297088.1:p.Pro305= | NP_001297088.1:p.Pro305= | NP_001297088.1:p.Pro305= |
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#.
36 SubSNP,
13 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | NHLBI-ESP | ss342321618 | May 09, 2011 (134) |
| 2 | 1000GENOMES | ss488956293 | May 04, 2012 (137) |
| 3 | EXOME_CHIP | ss491448608 | May 04, 2012 (137) |
| 4 | ILLUMINA | ss780896334 | Sep 08, 2015 (146) |
| 5 | ILLUMINA | ss783583082 | Sep 08, 2015 (146) |
| 6 | 1000GENOMES | ss1340718743 | Aug 21, 2014 (142) |
| 7 | EVA_EXAC | ss1690309059 | Apr 01, 2015 (144) |
| 8 | ILLUMINA | ss1752013084 | Sep 08, 2015 (146) |
| 9 | ILLUMINA | ss1917857840 | Feb 12, 2016 (147) |
| 10 | ILLUMINA | ss1946306431 | Feb 12, 2016 (147) |
| 11 | ILLUMINA | ss1959337859 | Feb 12, 2016 (147) |
| 12 | HUMAN_LONGEVITY | ss2181425519 | Dec 20, 2016 (150) |
| 13 | GNOMAD | ss2738878045 | Nov 08, 2017 (151) |
| 14 | GNOMAD | ss2748585310 | Nov 08, 2017 (151) |
| 15 | GNOMAD | ss2898026415 | Nov 08, 2017 (151) |
| 16 | ILLUMINA | ss3626632903 | Oct 12, 2018 (152) |
| 17 | ILLUMINA | ss3634448073 | Oct 12, 2018 (152) |
| 18 | ILLUMINA | ss3640155412 | Oct 12, 2018 (152) |
| 19 | ILLUMINA | ss3644559238 | Oct 12, 2018 (152) |
| 20 | ILLUMINA | ss3744378432 | Jul 13, 2019 (153) |
| 21 | ILLUMINA | ss3744748967 | Jul 13, 2019 (153) |
| 22 | PAGE_CC | ss3771616027 | Jul 13, 2019 (153) |
| 23 | ILLUMINA | ss3772249000 | Jul 13, 2019 (153) |
| 24 | EVA | ss3824604137 | Apr 26, 2020 (154) |
| 25 | TOPMED | ss4880465091 | Apr 26, 2021 (155) |
| 26 | TOMMO_GENOMICS | ss5201354109 | Apr 26, 2021 (155) |
| 27 | TOMMO_GENOMICS | ss5201354110 | Apr 26, 2021 (155) |
| 28 | 1000G_HIGH_COVERAGE | ss5286924855 | Oct 16, 2022 (156) |
| 29 | EVA | ss5398698430 | Oct 16, 2022 (156) |
| 30 | 1000G_HIGH_COVERAGE | ss5582328016 | Oct 16, 2022 (156) |
| 31 | TOMMO_GENOMICS | ss5748297059 | Oct 16, 2022 (156) |
| 32 | TOMMO_GENOMICS | ss5748297060 | Oct 16, 2022 (156) |
| 33 | EVA | ss5836469203 | Oct 16, 2022 (156) |
| 34 | EVA | ss5847627782 | Oct 16, 2022 (156) |
| 35 | EVA | ss5919431784 | Oct 16, 2022 (156) |
| 36 | EVA | ss5942253262 | Oct 16, 2022 (156) |
| 37 | 1000Genomes | NC_000011.9 - 31815201 | Oct 12, 2018 (152) |
| 38 | 1000Genomes_30x | NC_000011.10 - 31793653 | Oct 16, 2022 (156) |
| 39 | ExAC | NC_000011.9 - 31815201 | Oct 12, 2018 (152) |
| 40 | gnomAD - Genomes | NC_000011.10 - 31793653 | Apr 26, 2021 (155) |
| 41 | gnomAD - Exomes | NC_000011.9 - 31815201 | Jul 13, 2019 (153) |
| 42 | GO Exome Sequencing Project | NC_000011.9 - 31815201 | Oct 12, 2018 (152) |
| 43 | The PAGE Study | NC_000011.10 - 31793653 | Jul 13, 2019 (153) |
| 44 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 45 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 46 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 16, 2022 (156) |
| 47 |
14KJPN
Submission ignored due to conflicting rows: |
- | Oct 16, 2022 (156) |
| 48 | TopMed | NC_000011.10 - 31793653 | Apr 26, 2021 (155) |
| 49 | ALFA | NC_000011.10 - 31793653 | Apr 26, 2021 (155) |
| 50 | ClinVar | RCV002000490.1 | Oct 16, 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5201354109 | NC_000011.9:31815200:C:A | NC_000011.10:31793652:C:A | (self) |
| ss5748297059 | NC_000011.10:31793652:C:A | NC_000011.10:31793652:C:A | |
| 53223543, 560820, 8089978, 1061740, ss342321618, ss488956293, ss491448608, ss780896334, ss783583082, ss1340718743, ss1690309059, ss1752013084, ss1917857840, ss1946306431, ss1959337859, ss2738878045, ss2748585310, ss2898026415, ss3626632903, ss3634448073, ss3640155412, ss3644559238, ss3744378432, ss3744748967, ss3772249000, ss3824604137, ss5201354110, ss5398698430, ss5836469203, ss5847627782, ss5942253262 | NC_000011.9:31815200:C:T | NC_000011.10:31793652:C:T | (self) |
| RCV002000490.1, 69853951, 375695678, 837496, 96010747, 8636969859, ss2181425519, ss3771616027, ss4880465091, ss5286924855, ss5582328016, ss5748297060, ss5919431784 | NC_000011.10:31793652:C:T | NC_000011.10:31793652:C: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 rs146433004
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
Top▲
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.