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.
rs72650765
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:896430 (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
- T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000008 (2/264690, TOPMED)G=0.000004 (1/251334, GnomAD_exome)G=0.000021 (3/140104, GnomAD) (+ 1 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- WNK1 : 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 | 44420 | T=0.99995 | G=0.00005 |
| European | Sub | 32650 | T=0.99994 | G=0.00006 |
| African | Sub | 3512 | T=1.0000 | G=0.0000 |
| African Others | Sub | 122 | T=1.000 | G=0.000 |
| African American | Sub | 3390 | T=1.0000 | G=0.0000 |
| Asian | Sub | 168 | T=1.000 | G=0.000 |
| East Asian | Sub | 112 | T=1.000 | G=0.000 |
| Other Asian | Sub | 56 | T=1.00 | G=0.00 |
| Latin American 1 | Sub | 500 | T=1.000 | G=0.000 |
| Latin American 2 | Sub | 628 | T=1.000 | G=0.000 |
| South Asian | Sub | 98 | T=1.00 | G=0.00 |
| Other | Sub | 6864 | T=1.0000 | G=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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | T=0.999992 | G=0.000008 |
| gnomAD - Exomes | Global | Study-wide | 251334 | T=0.999996 | G=0.000004 |
| gnomAD - Exomes | European | Sub | 135274 | T=0.999993 | G=0.000007 |
| gnomAD - Exomes | Asian | Sub | 49010 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | American | Sub | 34588 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10072 | T=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6134 | T=1.0000 | G=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140104 | T=0.999979 | G=0.000021 |
| gnomAD - Genomes | European | Sub | 75908 | T=0.99996 | G=0.00004 |
| gnomAD - Genomes | African | Sub | 41962 | T=1.00000 | G=0.00000 |
| gnomAD - Genomes | American | Sub | 13636 | T=1.00000 | G=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | T=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3122 | T=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | T=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Total | Global | 44420 | T=0.99995 | G=0.00005 |
| Allele Frequency Aggregator | European | Sub | 32650 | T=0.99994 | G=0.00006 |
| Allele Frequency Aggregator | Other | Sub | 6864 | T=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 3512 | T=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | T=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | T=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 168 | T=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | T=1.00 | G=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 12 | NC_000012.12:g.896430T>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.1005596T>G |
| WNK1 RefSeqGene (LRG_247) | NG_007984.3:g.148372T>G |
Gene: WNK1, WNK lysine deficient protein kinase 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| WNK1 transcript variant 1 | NM_018979.4:c.5943T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform 1 | NP_061852.3:p.Phe1981Leu | F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant 2 | NM_014823.3:c.5199T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform 2 | NP_055638.2:p.Phe1733Leu | F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant 3 | NM_213655.5:c.6699T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform 3 | NP_998820.3:p.Phe2233Leu | F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant 4 | NM_001184985.2:c.6723T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform 4 |
NP_001171914.1:p.Phe2241L… NP_001171914.1:p.Phe2241Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X1 | XM_011520997.4:c.7182T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X1 |
XP_011519299.1:p.Phe2394L… XP_011519299.1:p.Phe2394Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X2 | XM_011520998.3:c.7179T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X2 |
XP_011519300.1:p.Phe2393L… XP_011519300.1:p.Phe2393Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X3 | XM_011520999.3:c.7179T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X3 |
XP_011519301.1:p.Phe2393L… XP_011519301.1:p.Phe2393Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X4 | XM_011521000.3:c.7182T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X4 |
XP_011519302.1:p.Phe2394L… XP_011519302.1:p.Phe2394Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X5 | XM_047429374.1:c.7179T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X5 |
XP_047285330.1:p.Phe2393L… XP_047285330.1:p.Phe2393Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X6 | XM_011521001.3:c.6903T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X6 |
XP_011519303.1:p.Phe2301L… XP_011519303.1:p.Phe2301Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X7 | XM_047429375.1:c.6900T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X7 |
XP_047285331.1:p.Phe2300L… XP_047285331.1:p.Phe2300Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X8 | XM_011521002.3:c.6720T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X8 |
XP_011519304.1:p.Phe2240L… XP_011519304.1:p.Phe2240Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X9 | XM_047429376.1:c.6720T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X9 |
XP_047285332.1:p.Phe2240L… XP_047285332.1:p.Phe2240Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X10 | XM_011521003.3:c.6444T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X10 |
XP_011519305.1:p.Phe2148L… XP_011519305.1:p.Phe2148Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X11 | XM_006719003.3:c.5940T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X11 |
XP_006719066.1:p.Phe1980L… XP_006719066.1:p.Phe1980Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X12 | XM_047429377.1:c.5940T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X12 |
XP_047285333.1:p.Phe1980L… XP_047285333.1:p.Phe1980Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X13 | XM_047429378.1:c.5937T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X13 |
XP_047285334.1:p.Phe1979L… XP_047285334.1:p.Phe1979Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X14 | XM_011521006.3:c.5859T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X14 |
XP_011519308.1:p.Phe1953L… XP_011519308.1:p.Phe1953Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X15 | XM_011521007.3:c.5856T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X15 |
XP_011519309.1:p.Phe1952L… XP_011519309.1:p.Phe1952Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X16 | XM_047429379.1:c.5856T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X16 |
XP_047285335.1:p.Phe1952L… XP_047285335.1:p.Phe1952Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X17 | XM_047429380.1:c.5664T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X17 |
XP_047285336.1:p.Phe1888L… XP_047285336.1:p.Phe1888Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X18 | XM_047429381.1:c.5859T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X18 |
XP_047285337.1:p.Phe1953L… XP_047285337.1:p.Phe1953Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X19 | XM_047429382.1:c.5661T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X19 |
XP_047285338.1:p.Phe1887L… XP_047285338.1:p.Phe1887Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X20 | XM_047429383.1:c.5661T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X20 |
XP_047285339.1:p.Phe1887L… XP_047285339.1:p.Phe1887Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X21 | XM_047429384.1:c.5658T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X21 |
XP_047285340.1:p.Phe1886L… XP_047285340.1:p.Phe1886Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X22 | XM_047429385.1:c.5580T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X22 |
XP_047285341.1:p.Phe1860L… XP_047285341.1:p.Phe1860Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X23 | XM_047429386.1:c.5577T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X23 |
XP_047285342.1:p.Phe1859L… XP_047285342.1:p.Phe1859Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X24 | XM_047429387.1:c.5574T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X24 |
XP_047285343.1:p.Phe1858L… XP_047285343.1:p.Phe1858Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X25 | XM_047429388.1:c.5484T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X25 |
XP_047285344.1:p.Phe1828L… XP_047285344.1:p.Phe1828Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X26 | XM_017019834.2:c.5481T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X26 |
XP_016875323.1:p.Phe1827L… XP_016875323.1:p.Phe1827Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X27 | XM_047429389.1:c.5481T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X27 |
XP_047285345.1:p.Phe1827L… XP_047285345.1:p.Phe1827Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X28 | XM_047429390.1:c.5478T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X28 |
XP_047285346.1:p.Phe1826L… XP_047285346.1:p.Phe1826Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X29 | XM_017019835.2:c.5400T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X29 |
XP_016875324.1:p.Phe1800L… XP_016875324.1:p.Phe1800Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X30 | XM_017019836.2:c.5397T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X30 |
XP_016875325.1:p.Phe1799L… XP_016875325.1:p.Phe1799Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X31 | XM_047429391.1:c.5397T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X31 |
XP_047285347.1:p.Phe1799L… XP_047285347.1:p.Phe1799Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X32 | XM_047429392.1:c.5394T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X32 |
XP_047285348.1:p.Phe1798L… XP_047285348.1:p.Phe1798Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X33 | XM_047429393.1:c.5484T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X33 |
XP_047285349.1:p.Phe1828L… XP_047285349.1:p.Phe1828Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X34 | XM_017019837.2:c.5205T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X34 |
XP_016875326.1:p.Phe1735L… XP_016875326.1:p.Phe1735Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X35 | XM_047429394.1:c.5400T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X35 |
XP_047285350.1:p.Phe1800L… XP_047285350.1:p.Phe1800Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X36 | XM_017019838.2:c.5202T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X36 |
XP_016875327.1:p.Phe1734L… XP_016875327.1:p.Phe1734Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X37 | XM_047429395.1:c.5202T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X37 |
XP_047285351.1:p.Phe1734L… XP_047285351.1:p.Phe1734Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X38 | XM_047429396.1:c.5397T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X38 |
XP_047285352.1:p.Phe1799L… XP_047285352.1:p.Phe1799Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X39 | XM_047429397.1:c.5397T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X39 |
XP_047285353.1:p.Phe1799L… XP_047285353.1:p.Phe1799Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X40 | XM_011521008.3:c.5121T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X40 |
XP_011519310.1:p.Phe1707L… XP_011519310.1:p.Phe1707Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X41 | XM_011521009.3:c.5118T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X41 |
XP_011519311.1:p.Phe1706L… XP_011519311.1:p.Phe1706Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X42 | XM_047429398.1:c.5118T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X42 |
XP_047285354.1:p.Phe1706L… XP_047285354.1:p.Phe1706Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X43 | XM_047429399.1:c.5115T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X43 |
XP_047285355.1:p.Phe1705L… XP_047285355.1:p.Phe1705Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X44 | XM_047429400.1:c.5205T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X44 |
XP_047285356.1:p.Phe1735L… XP_047285356.1:p.Phe1735Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X45 | XM_047429401.1:c.5202T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X45 |
XP_047285357.1:p.Phe1734L… XP_047285357.1:p.Phe1734Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X46 | XM_047429402.1:c.5199T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X46 |
XP_047285358.1:p.Phe1733L… XP_047285358.1:p.Phe1733Leu |
F (Phe) > L (Leu) | Missense Variant |
| WNK1 transcript variant X47 | XM_047429403.1:c.3984T>G | F [TTT] > L [TTG] | Coding Sequence Variant |
| serine/threonine-protein kinase WNK1 isoform X47 |
XP_047285359.1:p.Phe1328L… XP_047285359.1:p.Phe1328Leu |
F (Phe) > L (Leu) | 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: G (allele ID:
318629
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000300646.3 | Pseudohypoaldosteronism type 2C | Uncertain-Significance |
| RCV000687759.5 | Neuropathy, hereditary sensory and autonomic, type 2A,Pseudohypoaldosteronism type 2C | 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 | T= | G |
|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.896430= | NC_000012.12:g.896430T>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.1005596= | NC_000012.11:g.1005596T>G |
| WNK1 RefSeqGene (LRG_247) | NG_007984.3:g.148372= | NG_007984.3:g.148372T>G |
| WNK1 transcript variant 3 | NM_213655.5:c.6699= | NM_213655.5:c.6699T>G |
| WNK1 transcript variant 3 | NM_213655.4:c.6699= | NM_213655.4:c.6699T>G |
| WNK1 transcript variant 1 | NM_018979.4:c.5943= | NM_018979.4:c.5943T>G |
| WNK1 transcript variant 1 | NM_018979.3:c.5943= | NM_018979.3:c.5943T>G |
| WNK1 transcript variant 2 | NM_014823.3:c.5199= | NM_014823.3:c.5199T>G |
| WNK1 transcript variant 2 | NM_014823.2:c.5199= | NM_014823.2:c.5199T>G |
| WNK1 transcript variant 4 | NM_001184985.2:c.6723= | NM_001184985.2:c.6723T>G |
| WNK1 transcript variant 4 | NM_001184985.1:c.6723= | NM_001184985.1:c.6723T>G |
| WNK1 transcript variant X1 | XM_011520997.4:c.7182= | XM_011520997.4:c.7182T>G |
| WNK1 transcript variant X1 | XM_011520997.3:c.7182= | XM_011520997.3:c.7182T>G |
| WNK1 transcript variant X1 | XM_011520997.2:c.7182= | XM_011520997.2:c.7182T>G |
| WNK1 transcript variant X1 | XM_011520997.1:c.7182= | XM_011520997.1:c.7182T>G |
| WNK1 transcript variant X3 | XM_011520999.3:c.7179= | XM_011520999.3:c.7179T>G |
| WNK1 transcript variant X3 | XM_011520999.2:c.7179= | XM_011520999.2:c.7179T>G |
| WNK1 transcript variant X3 | XM_011520999.1:c.7179= | XM_011520999.1:c.7179T>G |
| WNK1 transcript variant X2 | XM_011520998.3:c.7179= | XM_011520998.3:c.7179T>G |
| WNK1 transcript variant X2 | XM_011520998.2:c.7179= | XM_011520998.2:c.7179T>G |
| WNK1 transcript variant X2 | XM_011520998.1:c.7179= | XM_011520998.1:c.7179T>G |
| WNK1 transcript variant X4 | XM_011521000.3:c.7182= | XM_011521000.3:c.7182T>G |
| WNK1 transcript variant X4 | XM_011521000.2:c.7182= | XM_011521000.2:c.7182T>G |
| WNK1 transcript variant X4 | XM_011521000.1:c.7182= | XM_011521000.1:c.7182T>G |
| WNK1 transcript variant X6 | XM_011521001.3:c.6903= | XM_011521001.3:c.6903T>G |
| WNK1 transcript variant X5 | XM_011521001.2:c.6903= | XM_011521001.2:c.6903T>G |
| WNK1 transcript variant X5 | XM_011521001.1:c.6903= | XM_011521001.1:c.6903T>G |
| WNK1 transcript variant X8 | XM_011521002.3:c.6720= | XM_011521002.3:c.6720T>G |
| WNK1 transcript variant X6 | XM_011521002.2:c.6720= | XM_011521002.2:c.6720T>G |
| WNK1 transcript variant X6 | XM_011521002.1:c.6720= | XM_011521002.1:c.6720T>G |
| WNK1 transcript variant X10 | XM_011521003.3:c.6444= | XM_011521003.3:c.6444T>G |
| WNK1 transcript variant X7 | XM_011521003.2:c.6444= | XM_011521003.2:c.6444T>G |
| WNK1 transcript variant X7 | XM_011521003.1:c.6444= | XM_011521003.1:c.6444T>G |
| WNK1 transcript variant X11 | XM_006719003.3:c.5940= | XM_006719003.3:c.5940T>G |
| WNK1 transcript variant X10 | XM_006719003.2:c.5940= | XM_006719003.2:c.5940T>G |
| WNK1 transcript variant X10 | XM_006719003.1:c.5940= | XM_006719003.1:c.5940T>G |
| WNK1 transcript variant X14 | XM_011521006.3:c.5859= | XM_011521006.3:c.5859T>G |
| WNK1 transcript variant X11 | XM_011521006.2:c.5859= | XM_011521006.2:c.5859T>G |
| WNK1 transcript variant X11 | XM_011521006.1:c.5859= | XM_011521006.1:c.5859T>G |
| WNK1 transcript variant X15 | XM_011521007.3:c.5856= | XM_011521007.3:c.5856T>G |
| WNK1 transcript variant X12 | XM_011521007.2:c.5856= | XM_011521007.2:c.5856T>G |
| WNK1 transcript variant X12 | XM_011521007.1:c.5856= | XM_011521007.1:c.5856T>G |
| WNK1 transcript variant X40 | XM_011521008.3:c.5121= | XM_011521008.3:c.5121T>G |
| WNK1 transcript variant X18 | XM_011521008.2:c.5121= | XM_011521008.2:c.5121T>G |
| WNK1 transcript variant X13 | XM_011521008.1:c.5121= | XM_011521008.1:c.5121T>G |
| WNK1 transcript variant X41 | XM_011521009.3:c.5118= | XM_011521009.3:c.5118T>G |
| WNK1 transcript variant X19 | XM_011521009.2:c.5118= | XM_011521009.2:c.5118T>G |
| WNK1 transcript variant X14 | XM_011521009.1:c.5118= | XM_011521009.1:c.5118T>G |
| WNK1 transcript variant X26 | XM_017019834.2:c.5481= | XM_017019834.2:c.5481T>G |
| WNK1 transcript variant X13 | XM_017019834.1:c.5481= | XM_017019834.1:c.5481T>G |
| WNK1 transcript variant X29 | XM_017019835.2:c.5400= | XM_017019835.2:c.5400T>G |
| WNK1 transcript variant X14 | XM_017019835.1:c.5400= | XM_017019835.1:c.5400T>G |
| WNK1 transcript variant X30 | XM_017019836.2:c.5397= | XM_017019836.2:c.5397T>G |
| WNK1 transcript variant X15 | XM_017019836.1:c.5397= | XM_017019836.1:c.5397T>G |
| WNK1 transcript variant X34 | XM_017019837.2:c.5205= | XM_017019837.2:c.5205T>G |
| WNK1 transcript variant X16 | XM_017019837.1:c.5205= | XM_017019837.1:c.5205T>G |
| WNK1 transcript variant X36 | XM_017019838.2:c.5202= | XM_017019838.2:c.5202T>G |
| WNK1 transcript variant X17 | XM_017019838.1:c.5202= | XM_017019838.1:c.5202T>G |
| WNK1 transcript variant X5 | XM_047429374.1:c.7179= | XM_047429374.1:c.7179T>G |
| WNK1 transcript variant X7 | XM_047429375.1:c.6900= | XM_047429375.1:c.6900T>G |
| WNK1 transcript variant X9 | XM_047429376.1:c.6720= | XM_047429376.1:c.6720T>G |
| WNK1 transcript variant X12 | XM_047429377.1:c.5940= | XM_047429377.1:c.5940T>G |
| WNK1 transcript variant X13 | XM_047429378.1:c.5937= | XM_047429378.1:c.5937T>G |
| WNK1 transcript variant X16 | XM_047429379.1:c.5856= | XM_047429379.1:c.5856T>G |
| WNK1 transcript variant X18 | XM_047429381.1:c.5859= | XM_047429381.1:c.5859T>G |
| WNK1 transcript variant X17 | XM_047429380.1:c.5664= | XM_047429380.1:c.5664T>G |
| WNK1 transcript variant X20 | XM_047429383.1:c.5661= | XM_047429383.1:c.5661T>G |
| WNK1 transcript variant X19 | XM_047429382.1:c.5661= | XM_047429382.1:c.5661T>G |
| WNK1 transcript variant X21 | XM_047429384.1:c.5658= | XM_047429384.1:c.5658T>G |
| WNK1 transcript variant X22 | XM_047429385.1:c.5580= | XM_047429385.1:c.5580T>G |
| WNK1 transcript variant X23 | XM_047429386.1:c.5577= | XM_047429386.1:c.5577T>G |
| WNK1 transcript variant X24 | XM_047429387.1:c.5574= | XM_047429387.1:c.5574T>G |
| WNK1 transcript variant X25 | XM_047429388.1:c.5484= | XM_047429388.1:c.5484T>G |
| WNK1 transcript variant X27 | XM_047429389.1:c.5481= | XM_047429389.1:c.5481T>G |
| WNK1 transcript variant X28 | XM_047429390.1:c.5478= | XM_047429390.1:c.5478T>G |
| WNK1 transcript variant X31 | XM_047429391.1:c.5397= | XM_047429391.1:c.5397T>G |
| WNK1 transcript variant X32 | XM_047429392.1:c.5394= | XM_047429392.1:c.5394T>G |
| WNK1 transcript variant X33 | XM_047429393.1:c.5484= | XM_047429393.1:c.5484T>G |
| WNK1 transcript variant X35 | XM_047429394.1:c.5400= | XM_047429394.1:c.5400T>G |
| WNK1 transcript variant X39 | XM_047429397.1:c.5397= | XM_047429397.1:c.5397T>G |
| WNK1 transcript variant X38 | XM_047429396.1:c.5397= | XM_047429396.1:c.5397T>G |
| WNK1 transcript variant X37 | XM_047429395.1:c.5202= | XM_047429395.1:c.5202T>G |
| WNK1 transcript variant X42 | XM_047429398.1:c.5118= | XM_047429398.1:c.5118T>G |
| WNK1 transcript variant X43 | XM_047429399.1:c.5115= | XM_047429399.1:c.5115T>G |
| WNK1 transcript variant X44 | XM_047429400.1:c.5205= | XM_047429400.1:c.5205T>G |
| WNK1 transcript variant X45 | XM_047429401.1:c.5202= | XM_047429401.1:c.5202T>G |
| WNK1 transcript variant X46 | XM_047429402.1:c.5199= | XM_047429402.1:c.5199T>G |
| WNK1 transcript variant X47 | XM_047429403.1:c.3984= | XM_047429403.1:c.3984T>G |
| serine/threonine-protein kinase WNK1 isoform 3 | NP_998820.3:p.Phe2233= | NP_998820.3:p.Phe2233Leu |
| serine/threonine-protein kinase WNK1 isoform 1 | NP_061852.3:p.Phe1981= | NP_061852.3:p.Phe1981Leu |
| serine/threonine-protein kinase WNK1 isoform 2 | NP_055638.2:p.Phe1733= | NP_055638.2:p.Phe1733Leu |
| serine/threonine-protein kinase WNK1 isoform 4 | NP_001171914.1:p.Phe2241= | NP_001171914.1:p.Phe2241Leu |
| serine/threonine-protein kinase WNK1 isoform X1 | XP_011519299.1:p.Phe2394= | XP_011519299.1:p.Phe2394Leu |
| serine/threonine-protein kinase WNK1 isoform X3 | XP_011519301.1:p.Phe2393= | XP_011519301.1:p.Phe2393Leu |
| serine/threonine-protein kinase WNK1 isoform X2 | XP_011519300.1:p.Phe2393= | XP_011519300.1:p.Phe2393Leu |
| serine/threonine-protein kinase WNK1 isoform X4 | XP_011519302.1:p.Phe2394= | XP_011519302.1:p.Phe2394Leu |
| serine/threonine-protein kinase WNK1 isoform X6 | XP_011519303.1:p.Phe2301= | XP_011519303.1:p.Phe2301Leu |
| serine/threonine-protein kinase WNK1 isoform X8 | XP_011519304.1:p.Phe2240= | XP_011519304.1:p.Phe2240Leu |
| serine/threonine-protein kinase WNK1 isoform X10 | XP_011519305.1:p.Phe2148= | XP_011519305.1:p.Phe2148Leu |
| serine/threonine-protein kinase WNK1 isoform X11 | XP_006719066.1:p.Phe1980= | XP_006719066.1:p.Phe1980Leu |
| serine/threonine-protein kinase WNK1 isoform X14 | XP_011519308.1:p.Phe1953= | XP_011519308.1:p.Phe1953Leu |
| serine/threonine-protein kinase WNK1 isoform X15 | XP_011519309.1:p.Phe1952= | XP_011519309.1:p.Phe1952Leu |
| serine/threonine-protein kinase WNK1 isoform X40 | XP_011519310.1:p.Phe1707= | XP_011519310.1:p.Phe1707Leu |
| serine/threonine-protein kinase WNK1 isoform X41 | XP_011519311.1:p.Phe1706= | XP_011519311.1:p.Phe1706Leu |
| serine/threonine-protein kinase WNK1 isoform X26 | XP_016875323.1:p.Phe1827= | XP_016875323.1:p.Phe1827Leu |
| serine/threonine-protein kinase WNK1 isoform X29 | XP_016875324.1:p.Phe1800= | XP_016875324.1:p.Phe1800Leu |
| serine/threonine-protein kinase WNK1 isoform X30 | XP_016875325.1:p.Phe1799= | XP_016875325.1:p.Phe1799Leu |
| serine/threonine-protein kinase WNK1 isoform X34 | XP_016875326.1:p.Phe1735= | XP_016875326.1:p.Phe1735Leu |
| serine/threonine-protein kinase WNK1 isoform X36 | XP_016875327.1:p.Phe1734= | XP_016875327.1:p.Phe1734Leu |
| serine/threonine-protein kinase WNK1 isoform X5 | XP_047285330.1:p.Phe2393= | XP_047285330.1:p.Phe2393Leu |
| serine/threonine-protein kinase WNK1 isoform X7 | XP_047285331.1:p.Phe2300= | XP_047285331.1:p.Phe2300Leu |
| serine/threonine-protein kinase WNK1 isoform X9 | XP_047285332.1:p.Phe2240= | XP_047285332.1:p.Phe2240Leu |
| serine/threonine-protein kinase WNK1 isoform X12 | XP_047285333.1:p.Phe1980= | XP_047285333.1:p.Phe1980Leu |
| serine/threonine-protein kinase WNK1 isoform X13 | XP_047285334.1:p.Phe1979= | XP_047285334.1:p.Phe1979Leu |
| serine/threonine-protein kinase WNK1 isoform X16 | XP_047285335.1:p.Phe1952= | XP_047285335.1:p.Phe1952Leu |
| serine/threonine-protein kinase WNK1 isoform X18 | XP_047285337.1:p.Phe1953= | XP_047285337.1:p.Phe1953Leu |
| serine/threonine-protein kinase WNK1 isoform X17 | XP_047285336.1:p.Phe1888= | XP_047285336.1:p.Phe1888Leu |
| serine/threonine-protein kinase WNK1 isoform X20 | XP_047285339.1:p.Phe1887= | XP_047285339.1:p.Phe1887Leu |
| serine/threonine-protein kinase WNK1 isoform X19 | XP_047285338.1:p.Phe1887= | XP_047285338.1:p.Phe1887Leu |
| serine/threonine-protein kinase WNK1 isoform X21 | XP_047285340.1:p.Phe1886= | XP_047285340.1:p.Phe1886Leu |
| serine/threonine-protein kinase WNK1 isoform X22 | XP_047285341.1:p.Phe1860= | XP_047285341.1:p.Phe1860Leu |
| serine/threonine-protein kinase WNK1 isoform X23 | XP_047285342.1:p.Phe1859= | XP_047285342.1:p.Phe1859Leu |
| serine/threonine-protein kinase WNK1 isoform X24 | XP_047285343.1:p.Phe1858= | XP_047285343.1:p.Phe1858Leu |
| serine/threonine-protein kinase WNK1 isoform X25 | XP_047285344.1:p.Phe1828= | XP_047285344.1:p.Phe1828Leu |
| serine/threonine-protein kinase WNK1 isoform X27 | XP_047285345.1:p.Phe1827= | XP_047285345.1:p.Phe1827Leu |
| serine/threonine-protein kinase WNK1 isoform X28 | XP_047285346.1:p.Phe1826= | XP_047285346.1:p.Phe1826Leu |
| serine/threonine-protein kinase WNK1 isoform X31 | XP_047285347.1:p.Phe1799= | XP_047285347.1:p.Phe1799Leu |
| serine/threonine-protein kinase WNK1 isoform X32 | XP_047285348.1:p.Phe1798= | XP_047285348.1:p.Phe1798Leu |
| serine/threonine-protein kinase WNK1 isoform X33 | XP_047285349.1:p.Phe1828= | XP_047285349.1:p.Phe1828Leu |
| serine/threonine-protein kinase WNK1 isoform X35 | XP_047285350.1:p.Phe1800= | XP_047285350.1:p.Phe1800Leu |
| serine/threonine-protein kinase WNK1 isoform X39 | XP_047285353.1:p.Phe1799= | XP_047285353.1:p.Phe1799Leu |
| serine/threonine-protein kinase WNK1 isoform X38 | XP_047285352.1:p.Phe1799= | XP_047285352.1:p.Phe1799Leu |
| serine/threonine-protein kinase WNK1 isoform X37 | XP_047285351.1:p.Phe1734= | XP_047285351.1:p.Phe1734Leu |
| serine/threonine-protein kinase WNK1 isoform X42 | XP_047285354.1:p.Phe1706= | XP_047285354.1:p.Phe1706Leu |
| serine/threonine-protein kinase WNK1 isoform X43 | XP_047285355.1:p.Phe1705= | XP_047285355.1:p.Phe1705Leu |
| serine/threonine-protein kinase WNK1 isoform X44 | XP_047285356.1:p.Phe1735= | XP_047285356.1:p.Phe1735Leu |
| serine/threonine-protein kinase WNK1 isoform X45 | XP_047285357.1:p.Phe1734= | XP_047285357.1:p.Phe1734Leu |
| serine/threonine-protein kinase WNK1 isoform X46 | XP_047285358.1:p.Phe1733= | XP_047285358.1:p.Phe1733Leu |
| serine/threonine-protein kinase WNK1 isoform X47 | XP_047285359.1:p.Phe1328= | XP_047285359.1:p.Phe1328Leu |
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#.
4 SubSNP,
4 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | RSG_JCVI | ss107931554 | Feb 13, 2009 (130) |
| 2 | GNOMAD | ss2739543198 | Nov 08, 2017 (151) |
| 3 | GNOMAD | ss4245671249 | Apr 26, 2021 (155) |
| 4 | TOPMED | ss4906160114 | Apr 26, 2021 (155) |
| 5 | gnomAD - Genomes | NC_000012.12 - 896430 | Apr 26, 2021 (155) |
| 6 | gnomAD - Exomes | NC_000012.11 - 1005596 | Jul 13, 2019 (153) |
| 7 | TopMed | NC_000012.12 - 896430 | Apr 26, 2021 (155) |
| 8 | ALFA | NC_000012.12 - 896430 | Apr 26, 2021 (155) |
| 9 | ClinVar | RCV000300646.3 | Oct 18, 2022 (156) |
| 10 | ClinVar | RCV000687759.5 | Oct 18, 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 |
|---|---|---|---|
| 8766666, ss2739543198 | NC_000012.11:1005595:T:G | NC_000012.12:896429:T:G | (self) |
| RCV000300646.3, RCV000687759.5, 397117981, 121705771, 9048787903, ss4245671249, ss4906160114 | NC_000012.12:896429:T:G | NC_000012.12:896429:T:G | (self) |
| ss107931554 | NT_009759.16:945595:T:G | NC_000012.12:896429:T:G | (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 rs72650765
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.