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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.

rs4019583

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:42245167-42245185 (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
del(A)11 / del(A)10 / del(A)6 / de…

del(A)11 / del(A)10 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dup(A)5 / dup(A)11

Variation Type
Indel Insertion and Deletion
Frequency
(A)19=0.2009 (1006/5008, 1000G)
del(A)10=0.000 (0/712, ALFA)
del(A)5=0.000 (0/712, ALFA) (+ 8 more)
del(A)4=0.000 (0/712, ALFA)
delAAA=0.000 (0/712, ALFA)
delAA=0.000 (0/712, ALFA)
delA=0.000 (0/712, ALFA)
dupA=0.000 (0/712, ALFA)
dupAA=0.000 (0/712, ALFA)
(A)19=0.50 (20/40, GENOME_DK)
delAAA=0.50 (20/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FOXJ3 : Intron 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 712 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 494 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 162 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 156 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 12 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 10 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 14 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 22 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 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
1000Genomes Global Study-wide 5008 (A)19=0.2009 delAAA=0.7991
1000Genomes African Sub 1322 (A)19=0.1384 delAAA=0.8616
1000Genomes East Asian Sub 1008 (A)19=0.2004 delAAA=0.7996
1000Genomes Europe Sub 1006 (A)19=0.2117 delAAA=0.7883
1000Genomes South Asian Sub 978 (A)19=0.335 delAAA=0.665
1000Genomes American Sub 694 (A)19=0.115 delAAA=0.885
Allele Frequency Aggregator Total Global 712 (A)19=1.000 del(A)10=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator European Sub 494 (A)19=1.000 del(A)10=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator African Sub 162 (A)19=1.000 del(A)10=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 22 (A)19=1.00 del(A)10=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 2 Sub 14 (A)19=1.00 del(A)10=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Asian Sub 12 (A)19=1.00 del(A)10=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 6 (A)19=1.0 del(A)10=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator Latin American 1 Sub 2 (A)19=1.0 del(A)10=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
The Danish reference pan genome Danish Study-wide 40 (A)19=0.50 delAAA=0.50
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 1 NC_000001.11:g.42245175_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245176_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245180_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245181_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245182_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245183_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245184_42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245185del
GRCh38.p14 chr 1 NC_000001.11:g.42245185dup
GRCh38.p14 chr 1 NC_000001.11:g.42245184_42245185dup
GRCh38.p14 chr 1 NC_000001.11:g.42245181_42245185dup
GRCh38.p14 chr 1 NC_000001.11:g.42245175_42245185dup
GRCh37.p13 chr 1 NC_000001.10:g.42710846_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710847_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710851_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710852_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710853_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710854_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710855_42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710856del
GRCh37.p13 chr 1 NC_000001.10:g.42710856dup
GRCh37.p13 chr 1 NC_000001.10:g.42710855_42710856dup
GRCh37.p13 chr 1 NC_000001.10:g.42710852_42710856dup
GRCh37.p13 chr 1 NC_000001.10:g.42710846_42710856dup
Gene: FOXJ3, forkhead box J3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FOXJ3 transcript variant 2 NM_001198850.2:c.445-1721…

NM_001198850.2:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant 3 NM_001198851.2:c.445-1721…

NM_001198851.2:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant 4 NM_001198852.2:c.445-1721…

NM_001198852.2:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant 1 NM_014947.5:c.445-17211_4…

NM_014947.5:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant X1 XM_005270632.5:c.469-1721…

XM_005270632.5:c.469-17211_469-17201del

N/A Intron Variant
FOXJ3 transcript variant X6 XM_006710458.5:c.400-1721…

XM_006710458.5:c.400-17211_400-17201del

N/A Intron Variant
FOXJ3 transcript variant X8 XM_006710459.4:c.469-1721…

XM_006710459.4:c.469-17211_469-17201del

N/A Intron Variant
FOXJ3 transcript variant X11 XM_017000693.3:c.400-1721…

XM_017000693.3:c.400-17211_400-17201del

N/A Intron Variant
FOXJ3 transcript variant X12 XM_017000694.2:c.139-1721…

XM_017000694.2:c.139-17211_139-17201del

N/A Intron Variant
FOXJ3 transcript variant X4 XM_024454163.2:c.445-1721…

XM_024454163.2:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant X2 XM_047449471.1:c.445-1721…

XM_047449471.1:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant X3 XM_047449474.1:c.445-1721…

XM_047449474.1:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant X5 XM_047449478.1:c.445-1721…

XM_047449478.1:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant X7 XM_047449486.1:c.400-1721…

XM_047449486.1:c.400-17211_400-17201del

N/A Intron Variant
FOXJ3 transcript variant X9 XM_047449488.1:c.445-1721…

XM_047449488.1:c.445-17211_445-17201del

N/A Intron Variant
FOXJ3 transcript variant X10 XM_047449489.1:c.445-1721…

XM_047449489.1:c.445-17211_445-17201del

N/A Intron 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)19= del(A)11 del(A)10 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dup(A)5 dup(A)11
GRCh38.p14 chr 1 NC_000001.11:g.42245167_42245185= NC_000001.11:g.42245175_42245185del NC_000001.11:g.42245176_42245185del NC_000001.11:g.42245180_42245185del NC_000001.11:g.42245181_42245185del NC_000001.11:g.42245182_42245185del NC_000001.11:g.42245183_42245185del NC_000001.11:g.42245184_42245185del NC_000001.11:g.42245185del NC_000001.11:g.42245185dup NC_000001.11:g.42245184_42245185dup NC_000001.11:g.42245181_42245185dup NC_000001.11:g.42245175_42245185dup
GRCh37.p13 chr 1 NC_000001.10:g.42710838_42710856= NC_000001.10:g.42710846_42710856del NC_000001.10:g.42710847_42710856del NC_000001.10:g.42710851_42710856del NC_000001.10:g.42710852_42710856del NC_000001.10:g.42710853_42710856del NC_000001.10:g.42710854_42710856del NC_000001.10:g.42710855_42710856del NC_000001.10:g.42710856del NC_000001.10:g.42710856dup NC_000001.10:g.42710855_42710856dup NC_000001.10:g.42710852_42710856dup NC_000001.10:g.42710846_42710856dup
FOXJ3 transcript variant 2 NM_001198850.1:c.445-17201= NM_001198850.1:c.445-17211_445-17201del NM_001198850.1:c.445-17210_445-17201del NM_001198850.1:c.445-17206_445-17201del NM_001198850.1:c.445-17205_445-17201del NM_001198850.1:c.445-17204_445-17201del NM_001198850.1:c.445-17203_445-17201del NM_001198850.1:c.445-17202_445-17201del NM_001198850.1:c.445-17201del NM_001198850.1:c.445-17201dup NM_001198850.1:c.445-17202_445-17201dup NM_001198850.1:c.445-17205_445-17201dup NM_001198850.1:c.445-17211_445-17201dup
FOXJ3 transcript variant 2 NM_001198850.2:c.445-17201= NM_001198850.2:c.445-17211_445-17201del NM_001198850.2:c.445-17210_445-17201del NM_001198850.2:c.445-17206_445-17201del NM_001198850.2:c.445-17205_445-17201del NM_001198850.2:c.445-17204_445-17201del NM_001198850.2:c.445-17203_445-17201del NM_001198850.2:c.445-17202_445-17201del NM_001198850.2:c.445-17201del NM_001198850.2:c.445-17201dup NM_001198850.2:c.445-17202_445-17201dup NM_001198850.2:c.445-17205_445-17201dup NM_001198850.2:c.445-17211_445-17201dup
FOXJ3 transcript variant 3 NM_001198851.1:c.445-17201= NM_001198851.1:c.445-17211_445-17201del NM_001198851.1:c.445-17210_445-17201del NM_001198851.1:c.445-17206_445-17201del NM_001198851.1:c.445-17205_445-17201del NM_001198851.1:c.445-17204_445-17201del NM_001198851.1:c.445-17203_445-17201del NM_001198851.1:c.445-17202_445-17201del NM_001198851.1:c.445-17201del NM_001198851.1:c.445-17201dup NM_001198851.1:c.445-17202_445-17201dup NM_001198851.1:c.445-17205_445-17201dup NM_001198851.1:c.445-17211_445-17201dup
FOXJ3 transcript variant 3 NM_001198851.2:c.445-17201= NM_001198851.2:c.445-17211_445-17201del NM_001198851.2:c.445-17210_445-17201del NM_001198851.2:c.445-17206_445-17201del NM_001198851.2:c.445-17205_445-17201del NM_001198851.2:c.445-17204_445-17201del NM_001198851.2:c.445-17203_445-17201del NM_001198851.2:c.445-17202_445-17201del NM_001198851.2:c.445-17201del NM_001198851.2:c.445-17201dup NM_001198851.2:c.445-17202_445-17201dup NM_001198851.2:c.445-17205_445-17201dup NM_001198851.2:c.445-17211_445-17201dup
FOXJ3 transcript variant 4 NM_001198852.1:c.445-17201= NM_001198852.1:c.445-17211_445-17201del NM_001198852.1:c.445-17210_445-17201del NM_001198852.1:c.445-17206_445-17201del NM_001198852.1:c.445-17205_445-17201del NM_001198852.1:c.445-17204_445-17201del NM_001198852.1:c.445-17203_445-17201del NM_001198852.1:c.445-17202_445-17201del NM_001198852.1:c.445-17201del NM_001198852.1:c.445-17201dup NM_001198852.1:c.445-17202_445-17201dup NM_001198852.1:c.445-17205_445-17201dup NM_001198852.1:c.445-17211_445-17201dup
FOXJ3 transcript variant 4 NM_001198852.2:c.445-17201= NM_001198852.2:c.445-17211_445-17201del NM_001198852.2:c.445-17210_445-17201del NM_001198852.2:c.445-17206_445-17201del NM_001198852.2:c.445-17205_445-17201del NM_001198852.2:c.445-17204_445-17201del NM_001198852.2:c.445-17203_445-17201del NM_001198852.2:c.445-17202_445-17201del NM_001198852.2:c.445-17201del NM_001198852.2:c.445-17201dup NM_001198852.2:c.445-17202_445-17201dup NM_001198852.2:c.445-17205_445-17201dup NM_001198852.2:c.445-17211_445-17201dup
FOXJ3 transcript variant 1 NM_014947.4:c.445-17201= NM_014947.4:c.445-17211_445-17201del NM_014947.4:c.445-17210_445-17201del NM_014947.4:c.445-17206_445-17201del NM_014947.4:c.445-17205_445-17201del NM_014947.4:c.445-17204_445-17201del NM_014947.4:c.445-17203_445-17201del NM_014947.4:c.445-17202_445-17201del NM_014947.4:c.445-17201del NM_014947.4:c.445-17201dup NM_014947.4:c.445-17202_445-17201dup NM_014947.4:c.445-17205_445-17201dup NM_014947.4:c.445-17211_445-17201dup
FOXJ3 transcript variant 1 NM_014947.5:c.445-17201= NM_014947.5:c.445-17211_445-17201del NM_014947.5:c.445-17210_445-17201del NM_014947.5:c.445-17206_445-17201del NM_014947.5:c.445-17205_445-17201del NM_014947.5:c.445-17204_445-17201del NM_014947.5:c.445-17203_445-17201del NM_014947.5:c.445-17202_445-17201del NM_014947.5:c.445-17201del NM_014947.5:c.445-17201dup NM_014947.5:c.445-17202_445-17201dup NM_014947.5:c.445-17205_445-17201dup NM_014947.5:c.445-17211_445-17201dup
FOXJ3 transcript variant X1 XM_005270631.1:c.472-17201= XM_005270631.1:c.472-17211_472-17201del XM_005270631.1:c.472-17210_472-17201del XM_005270631.1:c.472-17206_472-17201del XM_005270631.1:c.472-17205_472-17201del XM_005270631.1:c.472-17204_472-17201del XM_005270631.1:c.472-17203_472-17201del XM_005270631.1:c.472-17202_472-17201del XM_005270631.1:c.472-17201del XM_005270631.1:c.472-17201dup XM_005270631.1:c.472-17202_472-17201dup XM_005270631.1:c.472-17205_472-17201dup XM_005270631.1:c.472-17211_472-17201dup
FOXJ3 transcript variant X2 XM_005270632.1:c.469-17201= XM_005270632.1:c.469-17211_469-17201del XM_005270632.1:c.469-17210_469-17201del XM_005270632.1:c.469-17206_469-17201del XM_005270632.1:c.469-17205_469-17201del XM_005270632.1:c.469-17204_469-17201del XM_005270632.1:c.469-17203_469-17201del XM_005270632.1:c.469-17202_469-17201del XM_005270632.1:c.469-17201del XM_005270632.1:c.469-17201dup XM_005270632.1:c.469-17202_469-17201dup XM_005270632.1:c.469-17205_469-17201dup XM_005270632.1:c.469-17211_469-17201dup
FOXJ3 transcript variant X1 XM_005270632.5:c.469-17201= XM_005270632.5:c.469-17211_469-17201del XM_005270632.5:c.469-17210_469-17201del XM_005270632.5:c.469-17206_469-17201del XM_005270632.5:c.469-17205_469-17201del XM_005270632.5:c.469-17204_469-17201del XM_005270632.5:c.469-17203_469-17201del XM_005270632.5:c.469-17202_469-17201del XM_005270632.5:c.469-17201del XM_005270632.5:c.469-17201dup XM_005270632.5:c.469-17202_469-17201dup XM_005270632.5:c.469-17205_469-17201dup XM_005270632.5:c.469-17211_469-17201dup
FOXJ3 transcript variant X3 XM_005270633.1:c.472-17201= XM_005270633.1:c.472-17211_472-17201del XM_005270633.1:c.472-17210_472-17201del XM_005270633.1:c.472-17206_472-17201del XM_005270633.1:c.472-17205_472-17201del XM_005270633.1:c.472-17204_472-17201del XM_005270633.1:c.472-17203_472-17201del XM_005270633.1:c.472-17202_472-17201del XM_005270633.1:c.472-17201del XM_005270633.1:c.472-17201dup XM_005270633.1:c.472-17202_472-17201dup XM_005270633.1:c.472-17205_472-17201dup XM_005270633.1:c.472-17211_472-17201dup
FOXJ3 transcript variant X6 XM_006710458.5:c.400-17201= XM_006710458.5:c.400-17211_400-17201del XM_006710458.5:c.400-17210_400-17201del XM_006710458.5:c.400-17206_400-17201del XM_006710458.5:c.400-17205_400-17201del XM_006710458.5:c.400-17204_400-17201del XM_006710458.5:c.400-17203_400-17201del XM_006710458.5:c.400-17202_400-17201del XM_006710458.5:c.400-17201del XM_006710458.5:c.400-17201dup XM_006710458.5:c.400-17202_400-17201dup XM_006710458.5:c.400-17205_400-17201dup XM_006710458.5:c.400-17211_400-17201dup
FOXJ3 transcript variant X8 XM_006710459.4:c.469-17201= XM_006710459.4:c.469-17211_469-17201del XM_006710459.4:c.469-17210_469-17201del XM_006710459.4:c.469-17206_469-17201del XM_006710459.4:c.469-17205_469-17201del XM_006710459.4:c.469-17204_469-17201del XM_006710459.4:c.469-17203_469-17201del XM_006710459.4:c.469-17202_469-17201del XM_006710459.4:c.469-17201del XM_006710459.4:c.469-17201dup XM_006710459.4:c.469-17202_469-17201dup XM_006710459.4:c.469-17205_469-17201dup XM_006710459.4:c.469-17211_469-17201dup
FOXJ3 transcript variant X11 XM_017000693.3:c.400-17201= XM_017000693.3:c.400-17211_400-17201del XM_017000693.3:c.400-17210_400-17201del XM_017000693.3:c.400-17206_400-17201del XM_017000693.3:c.400-17205_400-17201del XM_017000693.3:c.400-17204_400-17201del XM_017000693.3:c.400-17203_400-17201del XM_017000693.3:c.400-17202_400-17201del XM_017000693.3:c.400-17201del XM_017000693.3:c.400-17201dup XM_017000693.3:c.400-17202_400-17201dup XM_017000693.3:c.400-17205_400-17201dup XM_017000693.3:c.400-17211_400-17201dup
FOXJ3 transcript variant X12 XM_017000694.2:c.139-17201= XM_017000694.2:c.139-17211_139-17201del XM_017000694.2:c.139-17210_139-17201del XM_017000694.2:c.139-17206_139-17201del XM_017000694.2:c.139-17205_139-17201del XM_017000694.2:c.139-17204_139-17201del XM_017000694.2:c.139-17203_139-17201del XM_017000694.2:c.139-17202_139-17201del XM_017000694.2:c.139-17201del XM_017000694.2:c.139-17201dup XM_017000694.2:c.139-17202_139-17201dup XM_017000694.2:c.139-17205_139-17201dup XM_017000694.2:c.139-17211_139-17201dup
FOXJ3 transcript variant X4 XM_024454163.2:c.445-17201= XM_024454163.2:c.445-17211_445-17201del XM_024454163.2:c.445-17210_445-17201del XM_024454163.2:c.445-17206_445-17201del XM_024454163.2:c.445-17205_445-17201del XM_024454163.2:c.445-17204_445-17201del XM_024454163.2:c.445-17203_445-17201del XM_024454163.2:c.445-17202_445-17201del XM_024454163.2:c.445-17201del XM_024454163.2:c.445-17201dup XM_024454163.2:c.445-17202_445-17201dup XM_024454163.2:c.445-17205_445-17201dup XM_024454163.2:c.445-17211_445-17201dup
FOXJ3 transcript variant X2 XM_047449471.1:c.445-17201= XM_047449471.1:c.445-17211_445-17201del XM_047449471.1:c.445-17210_445-17201del XM_047449471.1:c.445-17206_445-17201del XM_047449471.1:c.445-17205_445-17201del XM_047449471.1:c.445-17204_445-17201del XM_047449471.1:c.445-17203_445-17201del XM_047449471.1:c.445-17202_445-17201del XM_047449471.1:c.445-17201del XM_047449471.1:c.445-17201dup XM_047449471.1:c.445-17202_445-17201dup XM_047449471.1:c.445-17205_445-17201dup XM_047449471.1:c.445-17211_445-17201dup
FOXJ3 transcript variant X3 XM_047449474.1:c.445-17201= XM_047449474.1:c.445-17211_445-17201del XM_047449474.1:c.445-17210_445-17201del XM_047449474.1:c.445-17206_445-17201del XM_047449474.1:c.445-17205_445-17201del XM_047449474.1:c.445-17204_445-17201del XM_047449474.1:c.445-17203_445-17201del XM_047449474.1:c.445-17202_445-17201del XM_047449474.1:c.445-17201del XM_047449474.1:c.445-17201dup XM_047449474.1:c.445-17202_445-17201dup XM_047449474.1:c.445-17205_445-17201dup XM_047449474.1:c.445-17211_445-17201dup
FOXJ3 transcript variant X5 XM_047449478.1:c.445-17201= XM_047449478.1:c.445-17211_445-17201del XM_047449478.1:c.445-17210_445-17201del XM_047449478.1:c.445-17206_445-17201del XM_047449478.1:c.445-17205_445-17201del XM_047449478.1:c.445-17204_445-17201del XM_047449478.1:c.445-17203_445-17201del XM_047449478.1:c.445-17202_445-17201del XM_047449478.1:c.445-17201del XM_047449478.1:c.445-17201dup XM_047449478.1:c.445-17202_445-17201dup XM_047449478.1:c.445-17205_445-17201dup XM_047449478.1:c.445-17211_445-17201dup
FOXJ3 transcript variant X7 XM_047449486.1:c.400-17201= XM_047449486.1:c.400-17211_400-17201del XM_047449486.1:c.400-17210_400-17201del XM_047449486.1:c.400-17206_400-17201del XM_047449486.1:c.400-17205_400-17201del XM_047449486.1:c.400-17204_400-17201del XM_047449486.1:c.400-17203_400-17201del XM_047449486.1:c.400-17202_400-17201del XM_047449486.1:c.400-17201del XM_047449486.1:c.400-17201dup XM_047449486.1:c.400-17202_400-17201dup XM_047449486.1:c.400-17205_400-17201dup XM_047449486.1:c.400-17211_400-17201dup
FOXJ3 transcript variant X9 XM_047449488.1:c.445-17201= XM_047449488.1:c.445-17211_445-17201del XM_047449488.1:c.445-17210_445-17201del XM_047449488.1:c.445-17206_445-17201del XM_047449488.1:c.445-17205_445-17201del XM_047449488.1:c.445-17204_445-17201del XM_047449488.1:c.445-17203_445-17201del XM_047449488.1:c.445-17202_445-17201del XM_047449488.1:c.445-17201del XM_047449488.1:c.445-17201dup XM_047449488.1:c.445-17202_445-17201dup XM_047449488.1:c.445-17205_445-17201dup XM_047449488.1:c.445-17211_445-17201dup
FOXJ3 transcript variant X10 XM_047449489.1:c.445-17201= XM_047449489.1:c.445-17211_445-17201del XM_047449489.1:c.445-17210_445-17201del XM_047449489.1:c.445-17206_445-17201del XM_047449489.1:c.445-17205_445-17201del XM_047449489.1:c.445-17204_445-17201del XM_047449489.1:c.445-17203_445-17201del XM_047449489.1:c.445-17202_445-17201del XM_047449489.1:c.445-17201del XM_047449489.1:c.445-17201dup XM_047449489.1:c.445-17202_445-17201dup XM_047449489.1:c.445-17205_445-17201dup XM_047449489.1:c.445-17211_445-17201dup
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#.

56 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5360532 Dec 03, 2013 (144)
2 ABI ss41282992 Mar 13, 2006 (126)
3 GMI ss287972909 May 04, 2012 (137)
4 PJP ss294575908 May 09, 2011 (137)
5 PJP ss294575909 May 09, 2011 (135)
6 1000GENOMES ss1367693699 Aug 21, 2014 (142)
7 EVA_GENOME_DK ss1573925941 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1700547178 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1700547181 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1709920962 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1709922362 Apr 01, 2015 (144)
12 SWEGEN ss2986679599 Nov 08, 2017 (151)
13 MCHAISSO ss3064398703 Nov 08, 2017 (151)
14 URBANLAB ss3646648187 Oct 11, 2018 (152)
15 EVA_DECODE ss3686607744 Jul 12, 2019 (153)
16 EVA_DECODE ss3686607745 Jul 12, 2019 (153)
17 EVA_DECODE ss3686607746 Jul 12, 2019 (153)
18 EVA_DECODE ss3686607747 Jul 12, 2019 (153)
19 EVA_DECODE ss3686607748 Jul 12, 2019 (153)
20 EVA_DECODE ss3686607749 Jul 12, 2019 (153)
21 PACBIO ss3783388446 Jul 12, 2019 (153)
22 PACBIO ss3789051066 Jul 12, 2019 (153)
23 PACBIO ss3793923738 Jul 12, 2019 (153)
24 KHV_HUMAN_GENOMES ss3799113441 Jul 12, 2019 (153)
25 EVA ss3826133114 Apr 25, 2020 (154)
26 GNOMAD ss3992149027 Apr 25, 2021 (155)
27 GNOMAD ss3992149028 Apr 25, 2021 (155)
28 GNOMAD ss3992149029 Apr 25, 2021 (155)
29 GNOMAD ss3992149030 Apr 25, 2021 (155)
30 GNOMAD ss3992149031 Apr 25, 2021 (155)
31 GNOMAD ss3992149032 Apr 25, 2021 (155)
32 GNOMAD ss3992149033 Apr 25, 2021 (155)
33 GNOMAD ss3992149034 Apr 25, 2021 (155)
34 GNOMAD ss3992149035 Apr 25, 2021 (155)
35 GNOMAD ss3992149036 Apr 25, 2021 (155)
36 TOMMO_GENOMICS ss5143551219 Apr 25, 2021 (155)
37 TOMMO_GENOMICS ss5143551220 Apr 25, 2021 (155)
38 TOMMO_GENOMICS ss5143551221 Apr 25, 2021 (155)
39 TOMMO_GENOMICS ss5143551222 Apr 25, 2021 (155)
40 TOMMO_GENOMICS ss5143551223 Apr 25, 2021 (155)
41 1000G_HIGH_COVERAGE ss5241974348 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5241974349 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5241974350 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5241974351 Oct 13, 2022 (156)
45 1000G_HIGH_COVERAGE ss5241974352 Oct 13, 2022 (156)
46 HUGCELL_USP ss5443070783 Oct 13, 2022 (156)
47 HUGCELL_USP ss5443070784 Oct 13, 2022 (156)
48 HUGCELL_USP ss5443070785 Oct 13, 2022 (156)
49 HUGCELL_USP ss5443070786 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5668197374 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5668197375 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5668197376 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5668197377 Oct 13, 2022 (156)
54 EVA ss5831847531 Oct 13, 2022 (156)
55 EVA ss5831847532 Oct 13, 2022 (156)
56 EVA ss5979953312 Oct 13, 2022 (156)
57 1000Genomes NC_000001.10 - 42710838 Oct 11, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 684432 (NC_000001.10:42710838:AA: 3332/3854)
Row 684433 (NC_000001.10:42710837:AAAA: 501/3854)

- Oct 11, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 684432 (NC_000001.10:42710838:AA: 3332/3854)
Row 684433 (NC_000001.10:42710837:AAAA: 501/3854)

- Oct 11, 2018 (152)
60 The Danish reference pan genome NC_000001.10 - 42710838 Apr 25, 2020 (154)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8885683 (NC_000001.11:42245166::A 378/112546)
Row 8885684 (NC_000001.11:42245166::AA 11/112612)
Row 8885685 (NC_000001.11:42245166::AAAAA 2/112620)...

- Apr 25, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 1520526 (NC_000001.10:42710837:AAA: 9888/16680)
Row 1520527 (NC_000001.10:42710837::A 347/16680)
Row 1520528 (NC_000001.10:42710837:AAAA: 15/16680)...

- Apr 25, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 1520526 (NC_000001.10:42710837:AAA: 9888/16680)
Row 1520527 (NC_000001.10:42710837::A 347/16680)
Row 1520528 (NC_000001.10:42710837:AAAA: 15/16680)...

- Apr 25, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 1520526 (NC_000001.10:42710837:AAA: 9888/16680)
Row 1520527 (NC_000001.10:42710837::A 347/16680)
Row 1520528 (NC_000001.10:42710837:AAAA: 15/16680)...

- Apr 25, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 1520526 (NC_000001.10:42710837:AAA: 9888/16680)
Row 1520527 (NC_000001.10:42710837::A 347/16680)
Row 1520528 (NC_000001.10:42710837:AAAA: 15/16680)...

- Apr 25, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 1520526 (NC_000001.10:42710837:AAA: 9888/16680)
Row 1520527 (NC_000001.10:42710837::A 347/16680)
Row 1520528 (NC_000001.10:42710837:AAAA: 15/16680)...

- Apr 25, 2021 (155)
76 14KJPN

Submission ignored due to conflicting rows:
Row 2034478 (NC_000001.11:42245166:AAA: 17838/28120)
Row 2034479 (NC_000001.11:42245166::A 558/28120)
Row 2034480 (NC_000001.11:42245166:AA: 33/28120)...

- Oct 13, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 2034478 (NC_000001.11:42245166:AAA: 17838/28120)
Row 2034479 (NC_000001.11:42245166::A 558/28120)
Row 2034480 (NC_000001.11:42245166:AA: 33/28120)...

- Oct 13, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 2034478 (NC_000001.11:42245166:AAA: 17838/28120)
Row 2034479 (NC_000001.11:42245166::A 558/28120)
Row 2034480 (NC_000001.11:42245166:AA: 33/28120)...

- Oct 13, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 2034478 (NC_000001.11:42245166:AAA: 17838/28120)
Row 2034479 (NC_000001.11:42245166::A 558/28120)
Row 2034480 (NC_000001.11:42245166:AA: 33/28120)...

- Oct 13, 2022 (156)
80 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 684432 (NC_000001.10:42710838:AA: 3177/3708)
Row 684433 (NC_000001.10:42710837:AAAA: 510/3708)

- Oct 11, 2018 (152)
81 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 684432 (NC_000001.10:42710838:AA: 3177/3708)
Row 684433 (NC_000001.10:42710837:AAAA: 510/3708)

- Oct 11, 2018 (152)
82 ALFA NC_000001.11 - 42245167 Apr 25, 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).

Associated ID History Updated (Build)
rs144646969 May 11, 2012 (137)
rs148398931 Sep 17, 2011 (135)
rs397842713 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3992149036 NC_000001.11:42245166:AAAAAAAAAAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss3992149035 NC_000001.11:42245166:AAAAAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3992149034 NC_000001.11:42245166:AAAAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1700547178, ss1700547181, ss2986679599, ss5143551221, ss5831847532, ss5979953312 NC_000001.10:42710837:AAAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3686607749, ss3992149033, ss5241974352, ss5668197377 NC_000001.11:42245166:AAAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss287972909, ss294575908 NC_000001.9:42483424:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss294575909 NC_000001.9:42483440:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
1261654, 137154, ss1367693699, ss1573925941, ss3783388446, ss3789051066, ss3793923738, ss3826133114, ss5143551219, ss5831847531 NC_000001.10:42710837:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1709920962, ss1709922362 NC_000001.10:42710838:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3064398703, ss3646648187, ss3799113441, ss3992149032, ss5241974348, ss5443070783, ss5668197374 NC_000001.11:42245166:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3686607748 NC_000001.11:42245167:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5360532, ss41282992 NT_032977.9:12682771:AAA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5143551222 NC_000001.10:42710837:AA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
NC_000001.10:42710838:AA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3992149031, ss5241974349, ss5443070784, ss5668197376 NC_000001.11:42245166:AA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3686607747 NC_000001.11:42245168:AA: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5143551223 NC_000001.10:42710837:A: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3992149030, ss5241974350, ss5443070785 NC_000001.11:42245166:A: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3686607746 NC_000001.11:42245169:A: NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5143551220 NC_000001.10:42710837::A NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3992149027, ss5241974351, ss5443070786, ss5668197375 NC_000001.11:42245166::A NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3686607745 NC_000001.11:42245170::A NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3992149028 NC_000001.11:42245166::AA NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
10364002585 NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3992149029 NC_000001.11:42245166::AAAAA NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3686607744 NC_000001.11:42245170::AAAAAAAAAAA NC_000001.11:42245166:AAAAAAAAAAAA…

NC_000001.11:42245166:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs4019583

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.

Software version is: 2.0.1.post820+afb47a3d