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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1471858589

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:102209549 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
G=0.000008 (2/251464, GnomAD_exome)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WDR20 : Missense Variant
LOC105370677 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 A=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 A=1.00 C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 A=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 A=1.000 C=0.000 1.0 0.0 0.0 N/A


Help

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 A=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 251464 A=0.999992 G=0.000008
gnomAD - Exomes European Sub 135394 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 49010 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 34590 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 16252 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6140 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 10680 A=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 6962 A=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2294 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 C=0.000
Allele Frequency Aggregator Other Sub 466 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 C=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 14 NC_000014.9:g.102209549A>C
GRCh38.p14 chr 14 NC_000014.9:g.102209549A>G
GRCh37.p13 chr 14 NC_000014.8:g.102675886A>C
GRCh37.p13 chr 14 NC_000014.8:g.102675886A>G
Gene: WDR20, WD repeat domain 20 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WDR20 transcript variant 5 NM_001242415.2:c.526-2971…

NM_001242415.2:c.526-2971A>C

 		N/A Intron Variant
WDR20 transcript variant 10 NM_001320130.2:c.433-1328…

NM_001320130.2:c.433-13281A>C

 		N/A Intron Variant
WDR20 transcript variant 35 NM_001353679.2:c.433-1200…

NM_001353679.2:c.433-12008A>C

 		N/A Intron Variant
WDR20 transcript variant 36 NM_001353680.2:c.250-1328…

NM_001353680.2:c.250-13281A>C

 		N/A Intron Variant
WDR20 transcript variant 37 NM_001353681.2:c.*2-13281…

NM_001353681.2:c.*2-13281A>C

 		N/A Intron Variant
WDR20 transcript variant 4 NM_001242414.2:c.*948= N/A 3 Prime UTR Variant
WDR20 transcript variant 1 NM_181291.3:c.1379A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 1 NP_851808.1:p.Lys460Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 1 NM_181291.3:c.1379A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 1 NP_851808.1:p.Lys460Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 19 NM_001353663.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340592.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 19 NM_001353663.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340592.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 31 NM_001353675.2:c.608A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 21 NP_001340604.1:p.Lys203Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 31 NM_001353675.2:c.608A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 21 NP_001340604.1:p.Lys203Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 14 NM_001353658.2:c.1229A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 14 NP_001340587.1:p.Lys410Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 14 NM_001353658.2:c.1229A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 14 NP_001340587.1:p.Lys410Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 7 NM_001242417.2:c.1472A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 7 NP_001229346.1:p.Lys491Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 7 NM_001242417.2:c.1472A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 7 NP_001229346.1:p.Lys491Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 24 NM_001353668.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340597.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 24 NM_001353668.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340597.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 29 NM_001353673.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340602.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 29 NM_001353673.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340602.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 6 NM_001242416.2:c.1196A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 6 NP_001229345.1:p.Lys399Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 6 NM_001242416.2:c.1196A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 6 NP_001229345.1:p.Lys399Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 22 NM_001353666.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340595.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 22 NM_001353666.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340595.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 8 NM_001242418.2:c.1415A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 8 NP_001229347.1:p.Lys472Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 8 NM_001242418.2:c.1415A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 8 NP_001229347.1:p.Lys472Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 34 NM_001353678.2:c.608A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 22 NP_001340607.1:p.Lys203Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 34 NM_001353678.2:c.608A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 22 NP_001340607.1:p.Lys203Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 3 NM_181308.3:c.1196A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 3 NP_851825.1:p.Lys399Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 3 NM_181308.3:c.1196A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 3 NP_851825.1:p.Lys399Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 20 NM_001353664.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340593.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 20 NM_001353664.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340593.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 30 NM_001353674.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340603.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 30 NM_001353674.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340603.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 18 NM_001353662.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340591.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 18 NM_001353662.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340591.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 32 NM_001353676.2:c.608A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 22 NP_001340605.1:p.Lys203Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 32 NM_001353676.2:c.608A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 22 NP_001340605.1:p.Lys203Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 25 NM_001353669.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340598.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 25 NM_001353669.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340598.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 12 NM_001353656.2:c.1379A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 12 NP_001340585.1:p.Lys460Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 12 NM_001353656.2:c.1379A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 12 NP_001340585.1:p.Lys460Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 28 NM_001353672.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340601.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 28 NM_001353672.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340601.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 33 NM_001353677.2:c.608A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 22 NP_001340606.1:p.Lys203Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 33 NM_001353677.2:c.608A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 22 NP_001340606.1:p.Lys203Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 27 NM_001353671.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340600.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 27 NM_001353671.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340600.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 17 NM_001353661.2:c.986A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 17 NP_001340590.1:p.Lys329Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 17 NM_001353661.2:c.986A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 17 NP_001340590.1:p.Lys329Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 13 NM_001353657.2:c.1379A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 13 NP_001340586.1:p.Lys460Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 13 NM_001353657.2:c.1379A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 13 NP_001340586.1:p.Lys460Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 21 NM_001353665.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340594.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 21 NM_001353665.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 18 NP_001340594.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 15 NM_001353659.2:c.1232A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 15 NP_001340588.1:p.Lys411Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 15 NM_001353659.2:c.1232A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 15 NP_001340588.1:p.Lys411Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 23 NM_001353667.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 19 NP_001340596.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 23 NM_001353667.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 19 NP_001340596.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 2 NM_144574.4:c.1379A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 2 NP_653175.2:p.Lys460Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 2 NM_144574.4:c.1379A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 2 NP_653175.2:p.Lys460Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 26 NM_001353670.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340599.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 26 NM_001353670.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 20 NP_001340599.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 16 NM_001353660.2:c.1229A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 16 NP_001340589.1:p.Lys410Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 16 NM_001353660.2:c.1229A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 16 NP_001340589.1:p.Lys410Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 11 NM_001330228.3:c.1472A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 11 NP_001317157.1:p.Lys491Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant 11 NM_001330228.3:c.1472A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform 11 NP_001317157.1:p.Lys491Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant 9 NR_038354.2:n.1199A>C N/A Non Coding Transcript Variant
WDR20 transcript variant 9 NR_038354.2:n.1199A>G N/A Non Coding Transcript Variant
WDR20 transcript variant 38 NR_148510.2:n. N/A Intron Variant
WDR20 transcript variant 39 NR_148511.2:n. N/A Intron Variant
WDR20 transcript variant X25 XM_011537352.4:c.561+1170…

XM_011537352.4:c.561+11702A>C

 		N/A Intron Variant
WDR20 transcript variant X29 XM_011537356.4:c.469-1328…

XM_011537356.4:c.469-13281A>C

 		N/A Intron Variant
WDR20 transcript variant X23 XM_047431929.1:c.561+1170…

XM_047431929.1:c.561+11702A>C

 		N/A Intron Variant
WDR20 transcript variant X27 XM_047431931.1:c.469-1200…

XM_047431931.1:c.469-12008A>C

 		N/A Intron Variant
WDR20 transcript variant X26 XM_011537353.4:c.*673= N/A 3 Prime UTR Variant
WDR20 transcript variant X28 XM_047431932.1:c.*673= N/A 3 Prime UTR Variant
WDR20 transcript variant X30 XM_047431933.1:c.*673= N/A 3 Prime UTR Variant
WDR20 transcript variant X24 XM_047431930.1:c. N/A Genic Downstream Transcript Variant
WDR20 transcript variant X1 XM_011537335.3:c.1508A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X1 XP_011535637.1:p.Lys503Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X1 XM_011537335.3:c.1508A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X1 XP_011535637.1:p.Lys503Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X2 XM_011537336.3:c.1508A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X2 XP_011535638.1:p.Lys503Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X2 XM_011537336.3:c.1508A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X2 XP_011535638.1:p.Lys503Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X3 XM_011537337.3:c.1508A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X3 XP_011535639.1:p.Lys503Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X3 XM_011537337.3:c.1508A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X3 XP_011535639.1:p.Lys503Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X4 XM_011537338.2:c.1472A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X4 XP_011535640.1:p.Lys491Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X4 XM_011537338.2:c.1472A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X4 XP_011535640.1:p.Lys491Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X5 XM_011537339.3:c.1508A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X5 XP_011535641.1:p.Lys503Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X5 XM_011537339.3:c.1508A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X5 XP_011535641.1:p.Lys503Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X6 XM_017021785.2:c.1472A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X6 XP_016877274.1:p.Lys491Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X6 XM_017021785.2:c.1472A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X6 XP_016877274.1:p.Lys491Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X7 XM_011537340.4:c.1508A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X7 XP_011535642.1:p.Lys503Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X7 XM_011537340.4:c.1508A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X7 XP_011535642.1:p.Lys503Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X8 XM_011537341.3:c.1415A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X8 XP_011535643.1:p.Lys472Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X8 XM_011537341.3:c.1415A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X8 XP_011535643.1:p.Lys472Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X9 XM_047431924.1:c.1415A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X9 XP_047287880.1:p.Lys472Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X9 XM_047431924.1:c.1415A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X9 XP_047287880.1:p.Lys472Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X10 XM_017021767.2:c.1415A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X10 XP_016877256.1:p.Lys472Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X10 XM_017021767.2:c.1415A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X10 XP_016877256.1:p.Lys472Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X11 XM_011537343.2:c.1322A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X11 XP_011535645.1:p.Lys441Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X11 XM_011537343.2:c.1322A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X11 XP_011535645.1:p.Lys441Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X12 XM_011537344.4:c.1229A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X12 XP_011535646.1:p.Lys410Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X12 XM_011537344.4:c.1229A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X12 XP_011535646.1:p.Lys410Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X13 XM_006720308.2:c.1196A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X13 XP_006720371.1:p.Lys399Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X13 XM_006720308.2:c.1196A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X13 XP_006720371.1:p.Lys399Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X14 XM_047431925.1:c.1196A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X14 XP_047287881.1:p.Lys399Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X14 XM_047431925.1:c.1196A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X14 XP_047287881.1:p.Lys399Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X15 XM_047431926.1:c.1232A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X15 XP_047287882.1:p.Lys411Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X15 XM_047431926.1:c.1232A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X15 XP_047287882.1:p.Lys411Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X16 XM_047431927.1:c.1070A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X16 XP_047287883.1:p.Lys357Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X16 XM_047431927.1:c.1070A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X16 XP_047287883.1:p.Lys357Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X17 XM_011537345.3:c.1007A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X17 XP_011535647.1:p.Lys336Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X17 XM_011537345.3:c.1007A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X17 XP_011535647.1:p.Lys336Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X18 XM_006720310.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_006720373.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X18 XM_006720310.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_006720373.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X19 XM_011537346.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_011535648.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X19 XM_011537346.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_011535648.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X20 XM_024449742.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_024305510.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X20 XM_024449742.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_024305510.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X21 XM_047431928.1:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_047287884.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X21 XM_047431928.1:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_047287884.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
WDR20 transcript variant X22 XM_024449743.2:c.860A>C K [AAA] > T [ACA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_024305511.1:p.Lys287Thr K (Lys) > T (Thr) Missense Variant
WDR20 transcript variant X22 XM_024449743.2:c.860A>G K [AAA] > R [AGA] Coding Sequence Variant
WD repeat-containing protein 20 isoform X18 XP_024305511.1:p.Lys287Arg K (Lys) > R (Arg) Missense Variant
Gene: LOC105370677, uncharacterized LOC105370677 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105370677 transcript XR_944228.2:n. N/A Upstream 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.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G
GRCh38.p14 chr 14 NC_000014.9:g.102209549= NC_000014.9:g.102209549A>C NC_000014.9:g.102209549A>G
GRCh37.p13 chr 14 NC_000014.8:g.102675886= NC_000014.8:g.102675886A>C NC_000014.8:g.102675886A>G
WDR20 transcript variant 2 NM_144574.4:c.1379= NM_144574.4:c.1379A>C NM_144574.4:c.1379A>G
WDR20 transcript variant 2 NM_144574.3:c.1379= NM_144574.3:c.1379A>C NM_144574.3:c.1379A>G
WDR20 transcript variant X26 XM_011537353.4:c.*673= XM_011537353.4:c.*673A>C XM_011537353.4:c.*673A>G
WDR20 transcript variant X25 XM_011537353.3:c.*673= XM_011537353.3:c.*673A>C XM_011537353.3:c.*673A>G
WDR20 transcript variant X35 XM_011537353.2:c.*673= XM_011537353.2:c.*673A>C XM_011537353.2:c.*673A>G
WDR20 transcript variant X24 XM_011537353.1:c.*673= XM_011537353.1:c.*673A>C XM_011537353.1:c.*673A>G
WDR20 transcript variant X7 XM_011537340.4:c.1508= XM_011537340.4:c.1508A>C XM_011537340.4:c.1508A>G
WDR20 transcript variant X6 XM_011537340.3:c.1508= XM_011537340.3:c.1508A>C XM_011537340.3:c.1508A>G
WDR20 transcript variant X6 XM_011537340.2:c.1508= XM_011537340.2:c.1508A>C XM_011537340.2:c.1508A>G
WDR20 transcript variant X6 XM_011537340.1:c.1508= XM_011537340.1:c.1508A>C XM_011537340.1:c.1508A>G
WDR20 transcript variant X12 XM_011537344.4:c.1229= XM_011537344.4:c.1229A>C XM_011537344.4:c.1229A>G
WDR20 transcript variant X10 XM_011537344.3:c.1229= XM_011537344.3:c.1229A>C XM_011537344.3:c.1229A>G
WDR20 transcript variant X13 XM_011537344.2:c.1229= XM_011537344.2:c.1229A>C XM_011537344.2:c.1229A>G
WDR20 transcript variant X10 XM_011537344.1:c.1229= XM_011537344.1:c.1229A>C XM_011537344.1:c.1229A>G
WDR20 transcript variant X2 XM_011537336.3:c.1508= XM_011537336.3:c.1508A>C XM_011537336.3:c.1508A>G
WDR20 transcript variant X2 XM_011537336.2:c.1508= XM_011537336.2:c.1508A>C XM_011537336.2:c.1508A>G
WDR20 transcript variant X2 XM_011537336.1:c.1508= XM_011537336.1:c.1508A>C XM_011537336.1:c.1508A>G
WDR20 transcript variant X1 XM_011537335.3:c.1508= XM_011537335.3:c.1508A>C XM_011537335.3:c.1508A>G
WDR20 transcript variant X1 XM_011537335.2:c.1508= XM_011537335.2:c.1508A>C XM_011537335.2:c.1508A>G
WDR20 transcript variant X1 XM_011537335.1:c.1508= XM_011537335.1:c.1508A>C XM_011537335.1:c.1508A>G
WDR20 transcript variant X3 XM_011537337.3:c.1508= XM_011537337.3:c.1508A>C XM_011537337.3:c.1508A>G
WDR20 transcript variant X3 XM_011537337.2:c.1508= XM_011537337.2:c.1508A>C XM_011537337.2:c.1508A>G
WDR20 transcript variant X3 XM_011537337.1:c.1508= XM_011537337.1:c.1508A>C XM_011537337.1:c.1508A>G
WDR20 transcript variant 11 NM_001330228.3:c.1472= NM_001330228.3:c.1472A>C NM_001330228.3:c.1472A>G
WDR20 transcript variant 11 NM_001330228.2:c.1472= NM_001330228.2:c.1472A>C NM_001330228.2:c.1472A>G
WDR20 transcript variant 11 NM_001330228.1:c.1472= NM_001330228.1:c.1472A>C NM_001330228.1:c.1472A>G
WDR20 transcript variant 1 NM_181291.3:c.1379= NM_181291.3:c.1379A>C NM_181291.3:c.1379A>G
WDR20 transcript variant 1 NM_181291.2:c.1379= NM_181291.2:c.1379A>C NM_181291.2:c.1379A>G
WDR20 transcript variant 3 NM_181308.3:c.1196= NM_181308.3:c.1196A>C NM_181308.3:c.1196A>G
WDR20 transcript variant 3 NM_181308.2:c.1196= NM_181308.2:c.1196A>C NM_181308.2:c.1196A>G
WDR20 transcript variant X5 XM_011537339.3:c.1508= XM_011537339.3:c.1508A>C XM_011537339.3:c.1508A>G
WDR20 transcript variant X5 XM_011537339.2:c.1508= XM_011537339.2:c.1508A>C XM_011537339.2:c.1508A>G
WDR20 transcript variant X5 XM_011537339.1:c.1508= XM_011537339.1:c.1508A>C XM_011537339.1:c.1508A>G
WDR20 transcript variant X8 XM_011537341.3:c.1415= XM_011537341.3:c.1415A>C XM_011537341.3:c.1415A>G
WDR20 transcript variant X7 XM_011537341.2:c.1415= XM_011537341.2:c.1415A>C XM_011537341.2:c.1415A>G
WDR20 transcript variant X7 XM_011537341.1:c.1415= XM_011537341.1:c.1415A>C XM_011537341.1:c.1415A>G
WDR20 transcript variant X17 XM_011537345.3:c.1007= XM_011537345.3:c.1007A>C XM_011537345.3:c.1007A>G
WDR20 transcript variant X12 XM_011537345.2:c.1007= XM_011537345.2:c.1007A>C XM_011537345.2:c.1007A>G
WDR20 transcript variant X16 XM_011537345.1:c.1007= XM_011537345.1:c.1007A>C XM_011537345.1:c.1007A>G
WDR20 transcript variant X6 XM_017021785.2:c.1472= XM_017021785.2:c.1472A>C XM_017021785.2:c.1472A>G
WDR20 transcript variant X29 XM_017021785.1:c.1472= XM_017021785.1:c.1472A>C XM_017021785.1:c.1472A>G
WDR20 transcript variant 13 NM_001353657.2:c.1379= NM_001353657.2:c.1379A>C NM_001353657.2:c.1379A>G
WDR20 transcript variant 13 NM_001353657.1:c.1379= NM_001353657.1:c.1379A>C NM_001353657.1:c.1379A>G
WDR20 transcript variant 12 NM_001353656.2:c.1379= NM_001353656.2:c.1379A>C NM_001353656.2:c.1379A>G
WDR20 transcript variant 12 NM_001353656.1:c.1379= NM_001353656.1:c.1379A>C NM_001353656.1:c.1379A>G
WDR20 transcript variant 23 NM_001353667.2:c.860= NM_001353667.2:c.860A>C NM_001353667.2:c.860A>G
WDR20 transcript variant 23 NM_001353667.1:c.860= NM_001353667.1:c.860A>C NM_001353667.1:c.860A>G
WDR20 transcript variant 14 NM_001353658.2:c.1229= NM_001353658.2:c.1229A>C NM_001353658.2:c.1229A>G
WDR20 transcript variant 14 NM_001353658.1:c.1229= NM_001353658.1:c.1229A>C NM_001353658.1:c.1229A>G
WDR20 transcript variant X10 XM_017021767.2:c.1415= XM_017021767.2:c.1415A>C XM_017021767.2:c.1415A>G
WDR20 transcript variant X8 XM_017021767.1:c.1415= XM_017021767.1:c.1415A>C XM_017021767.1:c.1415A>G
WDR20 transcript variant 18 NM_001353662.2:c.860= NM_001353662.2:c.860A>C NM_001353662.2:c.860A>G
WDR20 transcript variant 18 NM_001353662.1:c.860= NM_001353662.1:c.860A>C NM_001353662.1:c.860A>G
WDR20 transcript variant 25 NM_001353669.2:c.860= NM_001353669.2:c.860A>C NM_001353669.2:c.860A>G
WDR20 transcript variant 25 NM_001353669.1:c.860= NM_001353669.1:c.860A>C NM_001353669.1:c.860A>G
WDR20 transcript variant 26 NM_001353670.2:c.860= NM_001353670.2:c.860A>C NM_001353670.2:c.860A>G
WDR20 transcript variant 26 NM_001353670.1:c.860= NM_001353670.1:c.860A>C NM_001353670.1:c.860A>G
WDR20 transcript variant 7 NM_001242417.2:c.1472= NM_001242417.2:c.1472A>C NM_001242417.2:c.1472A>G
WDR20 transcript variant 7 NM_001242417.1:c.1472= NM_001242417.1:c.1472A>C NM_001242417.1:c.1472A>G
WDR20 transcript variant 22 NM_001353666.2:c.860= NM_001353666.2:c.860A>C NM_001353666.2:c.860A>G
WDR20 transcript variant 22 NM_001353666.1:c.860= NM_001353666.1:c.860A>C NM_001353666.1:c.860A>G
WDR20 transcript variant 16 NM_001353660.2:c.1229= NM_001353660.2:c.1229A>C NM_001353660.2:c.1229A>G
WDR20 transcript variant 16 NM_001353660.1:c.1229= NM_001353660.1:c.1229A>C NM_001353660.1:c.1229A>G
WDR20 transcript variant 19 NM_001353663.2:c.860= NM_001353663.2:c.860A>C NM_001353663.2:c.860A>G
WDR20 transcript variant 19 NM_001353663.1:c.860= NM_001353663.1:c.860A>C NM_001353663.1:c.860A>G
WDR20 transcript variant 8 NM_001242418.2:c.1415= NM_001242418.2:c.1415A>C NM_001242418.2:c.1415A>G
WDR20 transcript variant 8 NM_001242418.1:c.1415= NM_001242418.1:c.1415A>C NM_001242418.1:c.1415A>G
WDR20 transcript variant 24 NM_001353668.2:c.860= NM_001353668.2:c.860A>C NM_001353668.2:c.860A>G
WDR20 transcript variant 24 NM_001353668.1:c.860= NM_001353668.1:c.860A>C NM_001353668.1:c.860A>G
WDR20 transcript variant 17 NM_001353661.2:c.986= NM_001353661.2:c.986A>C NM_001353661.2:c.986A>G
WDR20 transcript variant 17 NM_001353661.1:c.986= NM_001353661.1:c.986A>C NM_001353661.1:c.986A>G
WDR20 transcript variant 6 NM_001242416.2:c.1196= NM_001242416.2:c.1196A>C NM_001242416.2:c.1196A>G
WDR20 transcript variant 6 NM_001242416.1:c.1196= NM_001242416.1:c.1196A>C NM_001242416.1:c.1196A>G
WDR20 transcript variant 20 NM_001353664.2:c.860= NM_001353664.2:c.860A>C NM_001353664.2:c.860A>G
WDR20 transcript variant 20 NM_001353664.1:c.860= NM_001353664.1:c.860A>C NM_001353664.1:c.860A>G
WDR20 transcript variant 29 NM_001353673.2:c.860= NM_001353673.2:c.860A>C NM_001353673.2:c.860A>G
WDR20 transcript variant 29 NM_001353673.1:c.860= NM_001353673.1:c.860A>C NM_001353673.1:c.860A>G
WDR20 transcript variant 31 NM_001353675.2:c.608= NM_001353675.2:c.608A>C NM_001353675.2:c.608A>G
WDR20 transcript variant 31 NM_001353675.1:c.608= NM_001353675.1:c.608A>C NM_001353675.1:c.608A>G
WDR20 transcript variant 28 NM_001353672.2:c.860= NM_001353672.2:c.860A>C NM_001353672.2:c.860A>G
WDR20 transcript variant 28 NM_001353672.1:c.860= NM_001353672.1:c.860A>C NM_001353672.1:c.860A>G
WDR20 transcript variant 15 NM_001353659.2:c.1232= NM_001353659.2:c.1232A>C NM_001353659.2:c.1232A>G
WDR20 transcript variant 15 NM_001353659.1:c.1232= NM_001353659.1:c.1232A>C NM_001353659.1:c.1232A>G
WDR20 transcript variant 33 NM_001353677.2:c.608= NM_001353677.2:c.608A>C NM_001353677.2:c.608A>G
WDR20 transcript variant 33 NM_001353677.1:c.608= NM_001353677.1:c.608A>C NM_001353677.1:c.608A>G
WDR20 transcript variant 4 NM_001242414.2:c.*948= NM_001242414.2:c.*948A>C NM_001242414.2:c.*948A>G
WDR20 transcript variant 4 NM_001242414.1:c.*948= NM_001242414.1:c.*948A>C NM_001242414.1:c.*948A>G
WDR20 transcript variant 30 NM_001353674.2:c.860= NM_001353674.2:c.860A>C NM_001353674.2:c.860A>G
WDR20 transcript variant 30 NM_001353674.1:c.860= NM_001353674.1:c.860A>C NM_001353674.1:c.860A>G
WDR20 transcript variant 21 NM_001353665.2:c.860= NM_001353665.2:c.860A>C NM_001353665.2:c.860A>G
WDR20 transcript variant 21 NM_001353665.1:c.860= NM_001353665.1:c.860A>C NM_001353665.1:c.860A>G
WDR20 transcript variant 9 NR_038354.2:n.1199= NR_038354.2:n.1199A>C NR_038354.2:n.1199A>G
WDR20 transcript variant 9 NR_038354.1:n.1244= NR_038354.1:n.1244A>C NR_038354.1:n.1244A>G
WDR20 transcript variant X18 XM_006720310.2:c.860= XM_006720310.2:c.860A>C XM_006720310.2:c.860A>G
WDR20 transcript variant X15 XM_006720310.1:c.860= XM_006720310.1:c.860A>C XM_006720310.1:c.860A>G
WDR20 transcript variant 32 NM_001353676.2:c.608= NM_001353676.2:c.608A>C NM_001353676.2:c.608A>G
WDR20 transcript variant 32 NM_001353676.1:c.608= NM_001353676.1:c.608A>C NM_001353676.1:c.608A>G
WDR20 transcript variant 27 NM_001353671.2:c.860= NM_001353671.2:c.860A>C NM_001353671.2:c.860A>G
WDR20 transcript variant 27 NM_001353671.1:c.860= NM_001353671.1:c.860A>C NM_001353671.1:c.860A>G
WDR20 transcript variant X11 XM_011537343.2:c.1322= XM_011537343.2:c.1322A>C XM_011537343.2:c.1322A>G
WDR20 transcript variant X9 XM_011537343.1:c.1322= XM_011537343.1:c.1322A>C XM_011537343.1:c.1322A>G
WDR20 transcript variant 34 NM_001353678.2:c.608= NM_001353678.2:c.608A>C NM_001353678.2:c.608A>G
WDR20 transcript variant 34 NM_001353678.1:c.608= NM_001353678.1:c.608A>C NM_001353678.1:c.608A>G
WDR20 transcript variant X22 XM_024449743.2:c.860= XM_024449743.2:c.860A>C XM_024449743.2:c.860A>G
WDR20 transcript variant X21 XM_024449743.1:c.860= XM_024449743.1:c.860A>C XM_024449743.1:c.860A>G
WDR20 transcript variant X4 XM_011537338.2:c.1472= XM_011537338.2:c.1472A>C XM_011537338.2:c.1472A>G
WDR20 transcript variant X4 XM_011537338.1:c.1472= XM_011537338.1:c.1472A>C XM_011537338.1:c.1472A>G
WDR20 transcript variant X20 XM_024449742.2:c.860= XM_024449742.2:c.860A>C XM_024449742.2:c.860A>G
WDR20 transcript variant X17 XM_024449742.1:c.860= XM_024449742.1:c.860A>C XM_024449742.1:c.860A>G
WDR20 transcript variant X19 XM_011537346.2:c.860= XM_011537346.2:c.860A>C XM_011537346.2:c.860A>G
WDR20 transcript variant X16 XM_011537346.1:c.860= XM_011537346.1:c.860A>C XM_011537346.1:c.860A>G
WDR20 transcript variant X13 XM_006720308.2:c.1196= XM_006720308.2:c.1196A>C XM_006720308.2:c.1196A>G
WDR20 transcript variant X11 XM_006720308.1:c.1196= XM_006720308.1:c.1196A>C XM_006720308.1:c.1196A>G
WDR20 transcript variant X9 XM_047431924.1:c.1415= XM_047431924.1:c.1415A>C XM_047431924.1:c.1415A>G
WDR20 transcript variant X14 XM_047431925.1:c.1196= XM_047431925.1:c.1196A>C XM_047431925.1:c.1196A>G
WDR20 transcript variant X15 XM_047431926.1:c.1232= XM_047431926.1:c.1232A>C XM_047431926.1:c.1232A>G
WDR20 transcript variant 4 NM_181302.1:c.1007= NM_181302.1:c.1007A>C NM_181302.1:c.1007A>G
WDR20 transcript variant X28 XM_047431932.1:c.*673= XM_047431932.1:c.*673A>C XM_047431932.1:c.*673A>G
WDR20 transcript variant X16 XM_047431927.1:c.1070= XM_047431927.1:c.1070A>C XM_047431927.1:c.1070A>G
WDR20 transcript variant X30 XM_047431933.1:c.*673= XM_047431933.1:c.*673A>C XM_047431933.1:c.*673A>G
WDR20 transcript variant X21 XM_047431928.1:c.860= XM_047431928.1:c.860A>C XM_047431928.1:c.860A>G
WD repeat-containing protein 20 isoform 2 NP_653175.2:p.Lys460= NP_653175.2:p.Lys460Thr NP_653175.2:p.Lys460Arg
WD repeat-containing protein 20 isoform X7 XP_011535642.1:p.Lys503= XP_011535642.1:p.Lys503Thr XP_011535642.1:p.Lys503Arg
WD repeat-containing protein 20 isoform X12 XP_011535646.1:p.Lys410= XP_011535646.1:p.Lys410Thr XP_011535646.1:p.Lys410Arg
WD repeat-containing protein 20 isoform X2 XP_011535638.1:p.Lys503= XP_011535638.1:p.Lys503Thr XP_011535638.1:p.Lys503Arg
WD repeat-containing protein 20 isoform X1 XP_011535637.1:p.Lys503= XP_011535637.1:p.Lys503Thr XP_011535637.1:p.Lys503Arg
WD repeat-containing protein 20 isoform X3 XP_011535639.1:p.Lys503= XP_011535639.1:p.Lys503Thr XP_011535639.1:p.Lys503Arg
WD repeat-containing protein 20 isoform 11 NP_001317157.1:p.Lys491= NP_001317157.1:p.Lys491Thr NP_001317157.1:p.Lys491Arg
WD repeat-containing protein 20 isoform 1 NP_851808.1:p.Lys460= NP_851808.1:p.Lys460Thr NP_851808.1:p.Lys460Arg
WD repeat-containing protein 20 isoform 3 NP_851825.1:p.Lys399= NP_851825.1:p.Lys399Thr NP_851825.1:p.Lys399Arg
WD repeat-containing protein 20 isoform X5 XP_011535641.1:p.Lys503= XP_011535641.1:p.Lys503Thr XP_011535641.1:p.Lys503Arg
WD repeat-containing protein 20 isoform X8 XP_011535643.1:p.Lys472= XP_011535643.1:p.Lys472Thr XP_011535643.1:p.Lys472Arg
WD repeat-containing protein 20 isoform X17 XP_011535647.1:p.Lys336= XP_011535647.1:p.Lys336Thr XP_011535647.1:p.Lys336Arg
WD repeat-containing protein 20 isoform X6 XP_016877274.1:p.Lys491= XP_016877274.1:p.Lys491Thr XP_016877274.1:p.Lys491Arg
WD repeat-containing protein 20 isoform 13 NP_001340586.1:p.Lys460= NP_001340586.1:p.Lys460Thr NP_001340586.1:p.Lys460Arg
WD repeat-containing protein 20 isoform 12 NP_001340585.1:p.Lys460= NP_001340585.1:p.Lys460Thr NP_001340585.1:p.Lys460Arg
WD repeat-containing protein 20 isoform 19 NP_001340596.1:p.Lys287= NP_001340596.1:p.Lys287Thr NP_001340596.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 14 NP_001340587.1:p.Lys410= NP_001340587.1:p.Lys410Thr NP_001340587.1:p.Lys410Arg
WD repeat-containing protein 20 isoform X10 XP_016877256.1:p.Lys472= XP_016877256.1:p.Lys472Thr XP_016877256.1:p.Lys472Arg
WD repeat-containing protein 20 isoform 18 NP_001340591.1:p.Lys287= NP_001340591.1:p.Lys287Thr NP_001340591.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 20 NP_001340598.1:p.Lys287= NP_001340598.1:p.Lys287Thr NP_001340598.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 20 NP_001340599.1:p.Lys287= NP_001340599.1:p.Lys287Thr NP_001340599.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 7 NP_001229346.1:p.Lys491= NP_001229346.1:p.Lys491Thr NP_001229346.1:p.Lys491Arg
WD repeat-containing protein 20 isoform 18 NP_001340595.1:p.Lys287= NP_001340595.1:p.Lys287Thr NP_001340595.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 16 NP_001340589.1:p.Lys410= NP_001340589.1:p.Lys410Thr NP_001340589.1:p.Lys410Arg
WD repeat-containing protein 20 isoform 18 NP_001340592.1:p.Lys287= NP_001340592.1:p.Lys287Thr NP_001340592.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 8 NP_001229347.1:p.Lys472= NP_001229347.1:p.Lys472Thr NP_001229347.1:p.Lys472Arg
WD repeat-containing protein 20 isoform 20 NP_001340597.1:p.Lys287= NP_001340597.1:p.Lys287Thr NP_001340597.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 17 NP_001340590.1:p.Lys329= NP_001340590.1:p.Lys329Thr NP_001340590.1:p.Lys329Arg
WD repeat-containing protein 20 isoform 6 NP_001229345.1:p.Lys399= NP_001229345.1:p.Lys399Thr NP_001229345.1:p.Lys399Arg
WD repeat-containing protein 20 isoform 18 NP_001340593.1:p.Lys287= NP_001340593.1:p.Lys287Thr NP_001340593.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 20 NP_001340602.1:p.Lys287= NP_001340602.1:p.Lys287Thr NP_001340602.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 21 NP_001340604.1:p.Lys203= NP_001340604.1:p.Lys203Thr NP_001340604.1:p.Lys203Arg
WD repeat-containing protein 20 isoform 20 NP_001340601.1:p.Lys287= NP_001340601.1:p.Lys287Thr NP_001340601.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 15 NP_001340588.1:p.Lys411= NP_001340588.1:p.Lys411Thr NP_001340588.1:p.Lys411Arg
WD repeat-containing protein 20 isoform 22 NP_001340606.1:p.Lys203= NP_001340606.1:p.Lys203Thr NP_001340606.1:p.Lys203Arg
WD repeat-containing protein 20 isoform 20 NP_001340603.1:p.Lys287= NP_001340603.1:p.Lys287Thr NP_001340603.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 18 NP_001340594.1:p.Lys287= NP_001340594.1:p.Lys287Thr NP_001340594.1:p.Lys287Arg
WD repeat-containing protein 20 isoform X18 XP_006720373.1:p.Lys287= XP_006720373.1:p.Lys287Thr XP_006720373.1:p.Lys287Arg
WD repeat-containing protein 20 isoform 22 NP_001340605.1:p.Lys203= NP_001340605.1:p.Lys203Thr NP_001340605.1:p.Lys203Arg
WD repeat-containing protein 20 isoform 20 NP_001340600.1:p.Lys287= NP_001340600.1:p.Lys287Thr NP_001340600.1:p.Lys287Arg
WD repeat-containing protein 20 isoform X11 XP_011535645.1:p.Lys441= XP_011535645.1:p.Lys441Thr XP_011535645.1:p.Lys441Arg
WD repeat-containing protein 20 isoform 22 NP_001340607.1:p.Lys203= NP_001340607.1:p.Lys203Thr NP_001340607.1:p.Lys203Arg
WD repeat-containing protein 20 isoform X18 XP_024305511.1:p.Lys287= XP_024305511.1:p.Lys287Thr XP_024305511.1:p.Lys287Arg
WD repeat-containing protein 20 isoform X4 XP_011535640.1:p.Lys491= XP_011535640.1:p.Lys491Thr XP_011535640.1:p.Lys491Arg
WD repeat-containing protein 20 isoform X18 XP_024305510.1:p.Lys287= XP_024305510.1:p.Lys287Thr XP_024305510.1:p.Lys287Arg
WD repeat-containing protein 20 isoform X18 XP_011535648.1:p.Lys287= XP_011535648.1:p.Lys287Thr XP_011535648.1:p.Lys287Arg
WD repeat-containing protein 20 isoform X13 XP_006720371.1:p.Lys399= XP_006720371.1:p.Lys399Thr XP_006720371.1:p.Lys399Arg
WD repeat-containing protein 20 isoform X9 XP_047287880.1:p.Lys472= XP_047287880.1:p.Lys472Thr XP_047287880.1:p.Lys472Arg
WD repeat-containing protein 20 isoform X14 XP_047287881.1:p.Lys399= XP_047287881.1:p.Lys399Thr XP_047287881.1:p.Lys399Arg
WD repeat-containing protein 20 isoform X15 XP_047287882.1:p.Lys411= XP_047287882.1:p.Lys411Thr XP_047287882.1:p.Lys411Arg
WD repeat-containing protein 20 isoform X16 XP_047287883.1:p.Lys357= XP_047287883.1:p.Lys357Thr XP_047287883.1:p.Lys357Arg
WD repeat-containing protein 20 isoform X18 XP_047287884.1:p.Lys287= XP_047287884.1:p.Lys287Thr XP_047287884.1:p.Lys287Arg
WDR20 transcript variant 5 NM_001242415.1:c.526-2971= NM_001242415.1:c.526-2971A>C NM_001242415.1:c.526-2971A>G
WDR20 transcript variant 5 NM_001242415.2:c.526-2971= NM_001242415.2:c.526-2971A>C NM_001242415.2:c.526-2971A>G
WDR20 transcript variant 10 NM_001320130.2:c.433-13281= NM_001320130.2:c.433-13281A>C NM_001320130.2:c.433-13281A>G
WDR20 transcript variant 35 NM_001353679.2:c.433-12008= NM_001353679.2:c.433-12008A>C NM_001353679.2:c.433-12008A>G
WDR20 transcript variant 36 NM_001353680.2:c.250-13281= NM_001353680.2:c.250-13281A>C NM_001353680.2:c.250-13281A>G
WDR20 transcript variant 37 NM_001353681.2:c.*2-13281= NM_001353681.2:c.*2-13281A>C NM_001353681.2:c.*2-13281A>G
WDR20 transcript variant X25 XM_011537352.4:c.561+11702= XM_011537352.4:c.561+11702A>C XM_011537352.4:c.561+11702A>G
WDR20 transcript variant X29 XM_011537356.4:c.469-13281= XM_011537356.4:c.469-13281A>C XM_011537356.4:c.469-13281A>G
WDR20 transcript variant X23 XM_047431929.1:c.561+11702= XM_047431929.1:c.561+11702A>C XM_047431929.1:c.561+11702A>G
WDR20 transcript variant X27 XM_047431931.1:c.469-12008= XM_047431931.1:c.469-12008A>C XM_047431931.1:c.469-12008A>G
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740959369 Nov 08, 2017 (151)
2 TOPMED ss4982997135 Apr 27, 2021 (155)
3 gnomAD - Exomes NC_000014.8 - 102675886 Jul 13, 2019 (153)
4 TopMed NC_000014.9 - 102209549 Apr 27, 2021 (155)
5 ALFA NC_000014.9 - 102209549 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
198542794, 6783578549, ss4982997135 NC_000014.9:102209548:A:C NC_000014.9:102209548:A:C (self)
10218796, ss2740959369 NC_000014.8:102675885:A:G NC_000014.9:102209548:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1471858589

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.

Software version is: 2.0.1.post820+afb47a3d