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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.

rs57108038

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:224139765-224139803 (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(ACAT)5 / del(ACAT)4 / del(ACAT…

del(ACAT)5 / del(ACAT)4 / del(ACAT)3 / del(ACAT)2 / delACAT / dupACAT / dup(ACAT)2 / dup(ACAT)3 / dup(ACAT)4 / dup(ACAT)5

Variation Type
Indel Insertion and Deletion
Frequency
dupACAT=0.002471 (654/264690, TOPMED)
delACAT=0.4167 (2607/6256, ALFA)
(CATA)9CAT=0.28 (24/86, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBXO28 : Intron Variant
LOC124903813 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 6256 CATACATACATACATACATACATACATACATACATACAT=0.5833 CATACATACATACATACAT=0.0000, CATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACAT=0.4167, CATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000
European Sub 4453 CATACATACATACATACATACATACATACATACATACAT=0.4159 CATACATACATACATACAT=0.0000, CATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACAT=0.5841, CATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000
African Sub 1388 CATACATACATACATACATACATACATACATACATACAT=1.0000 CATACATACATACATACAT=0.0000, CATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000
African Others Sub 52 CATACATACATACATACATACATACATACATACATACAT=1.00 CATACATACATACATACAT=0.00, CATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00
African American Sub 1336 CATACATACATACATACATACATACATACATACATACAT=1.0000 CATACATACATACATACAT=0.0000, CATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0000
Asian Sub 34 CATACATACATACATACATACATACATACATACATACAT=1.00 CATACATACATACATACAT=0.00, CATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00
East Asian Sub 24 CATACATACATACATACATACATACATACATACATACAT=1.00 CATACATACATACATACAT=0.00, CATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00
Other Asian Sub 10 CATACATACATACATACATACATACATACATACATACAT=1.0 CATACATACATACATACAT=0.0, CATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.0
Latin American 1 Sub 46 CATACATACATACATACATACATACATACATACATACAT=1.00 CATACATACATACATACAT=0.00, CATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00
Latin American 2 Sub 180 CATACATACATACATACATACATACATACATACATACAT=1.000 CATACATACATACATACAT=0.000, CATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.000
South Asian Sub 14 CATACATACATACATACATACATACATACATACATACAT=1.00 CATACATACATACATACAT=0.00, CATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.00
Other Sub 141 CATACATACATACATACATACATACATACATACATACAT=0.957 CATACATACATACATACAT=0.000, CATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACAT=0.043, CATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.000, CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT=0.000


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 -

No frequency provided

dupACAT=0.002471
Allele Frequency Aggregator Total Global 6256 (CATA)9CAT=0.5833 del(ACAT)5=0.0000, del(ACAT)4=0.0000, del(ACAT)3=0.0000, del(ACAT)2=0.0000, delACAT=0.4167, dupACAT=0.0000, dup(ACAT)2=0.0000, dup(ACAT)3=0.0000, dup(ACAT)4=0.0000, dup(ACAT)5=0.0000
Allele Frequency Aggregator European Sub 4453 (CATA)9CAT=0.4159 del(ACAT)5=0.0000, del(ACAT)4=0.0000, del(ACAT)3=0.0000, del(ACAT)2=0.0000, delACAT=0.5841, dupACAT=0.0000, dup(ACAT)2=0.0000, dup(ACAT)3=0.0000, dup(ACAT)4=0.0000, dup(ACAT)5=0.0000
Allele Frequency Aggregator African Sub 1388 (CATA)9CAT=1.0000 del(ACAT)5=0.0000, del(ACAT)4=0.0000, del(ACAT)3=0.0000, del(ACAT)2=0.0000, delACAT=0.0000, dupACAT=0.0000, dup(ACAT)2=0.0000, dup(ACAT)3=0.0000, dup(ACAT)4=0.0000, dup(ACAT)5=0.0000
Allele Frequency Aggregator Latin American 2 Sub 180 (CATA)9CAT=1.000 del(ACAT)5=0.000, del(ACAT)4=0.000, del(ACAT)3=0.000, del(ACAT)2=0.000, delACAT=0.000, dupACAT=0.000, dup(ACAT)2=0.000, dup(ACAT)3=0.000, dup(ACAT)4=0.000, dup(ACAT)5=0.000
Allele Frequency Aggregator Other Sub 141 (CATA)9CAT=0.957 del(ACAT)5=0.000, del(ACAT)4=0.000, del(ACAT)3=0.000, del(ACAT)2=0.000, delACAT=0.043, dupACAT=0.000, dup(ACAT)2=0.000, dup(ACAT)3=0.000, dup(ACAT)4=0.000, dup(ACAT)5=0.000
Allele Frequency Aggregator Latin American 1 Sub 46 (CATA)9CAT=1.00 del(ACAT)5=0.00, del(ACAT)4=0.00, del(ACAT)3=0.00, del(ACAT)2=0.00, delACAT=0.00, dupACAT=0.00, dup(ACAT)2=0.00, dup(ACAT)3=0.00, dup(ACAT)4=0.00, dup(ACAT)5=0.00
Allele Frequency Aggregator Asian Sub 34 (CATA)9CAT=1.00 del(ACAT)5=0.00, del(ACAT)4=0.00, del(ACAT)3=0.00, del(ACAT)2=0.00, delACAT=0.00, dupACAT=0.00, dup(ACAT)2=0.00, dup(ACAT)3=0.00, dup(ACAT)4=0.00, dup(ACAT)5=0.00
Allele Frequency Aggregator South Asian Sub 14 (CATA)9CAT=1.00 del(ACAT)5=0.00, del(ACAT)4=0.00, del(ACAT)3=0.00, del(ACAT)2=0.00, delACAT=0.00, dupACAT=0.00, dup(ACAT)2=0.00, dup(ACAT)3=0.00, dup(ACAT)4=0.00, dup(ACAT)5=0.00
A Vietnamese Genetic Variation Database Global Study-wide 86 (CATA)9CAT=0.28 delACAT=0.72
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.224139768ACAT[4]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[5]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[6]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[7]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[8]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[10]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[11]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[12]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[13]
GRCh38.p14 chr 1 NC_000001.11:g.224139768ACAT[14]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[4]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[5]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[6]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[7]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[8]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[10]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[11]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[12]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[13]
GRCh37.p13 chr 1 NC_000001.10:g.224327470ACAT[14]
Gene: FBXO28, F-box protein 28 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FBXO28 transcript variant 2 NM_001136115.3:c.516+5553…

NM_001136115.3:c.516+5553CATA[4]

N/A Intron Variant
FBXO28 transcript variant 1 NM_015176.4:c.516+5553CAT…

NM_015176.4:c.516+5553CATA[4]

N/A Intron Variant
FBXO28 transcript variant 3 NR_049764.2:n. N/A Intron Variant
Gene: LOC124903813, uncharacterized LOC124903813 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124903813 transcript XM_047436340.1:c.246+2781…

XM_047436340.1:c.246+2781TATG[4]

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 (CATA)9CAT= del(ACAT)5 del(ACAT)4 del(ACAT)3 del(ACAT)2 delACAT dupACAT dup(ACAT)2 dup(ACAT)3 dup(ACAT)4 dup(ACAT)5
GRCh38.p14 chr 1 NC_000001.11:g.224139765_224139803= NC_000001.11:g.224139768ACAT[4] NC_000001.11:g.224139768ACAT[5] NC_000001.11:g.224139768ACAT[6] NC_000001.11:g.224139768ACAT[7] NC_000001.11:g.224139768ACAT[8] NC_000001.11:g.224139768ACAT[10] NC_000001.11:g.224139768ACAT[11] NC_000001.11:g.224139768ACAT[12] NC_000001.11:g.224139768ACAT[13] NC_000001.11:g.224139768ACAT[14]
GRCh37.p13 chr 1 NC_000001.10:g.224327467_224327505= NC_000001.10:g.224327470ACAT[4] NC_000001.10:g.224327470ACAT[5] NC_000001.10:g.224327470ACAT[6] NC_000001.10:g.224327470ACAT[7] NC_000001.10:g.224327470ACAT[8] NC_000001.10:g.224327470ACAT[10] NC_000001.10:g.224327470ACAT[11] NC_000001.10:g.224327470ACAT[12] NC_000001.10:g.224327470ACAT[13] NC_000001.10:g.224327470ACAT[14]
FBXO28 transcript variant 2 NM_001136115.2:c.516+5553= NM_001136115.2:c.516+5553CATA[4] NM_001136115.2:c.516+5553CATA[5] NM_001136115.2:c.516+5553CATA[6] NM_001136115.2:c.516+5553CATA[7] NM_001136115.2:c.516+5553CATA[8] NM_001136115.2:c.516+5553CATA[10] NM_001136115.2:c.516+5553CATA[11] NM_001136115.2:c.516+5553CATA[12] NM_001136115.2:c.516+5553CATA[13] NM_001136115.2:c.516+5553CATA[14]
FBXO28 transcript variant 2 NM_001136115.3:c.516+5553= NM_001136115.3:c.516+5553CATA[4] NM_001136115.3:c.516+5553CATA[5] NM_001136115.3:c.516+5553CATA[6] NM_001136115.3:c.516+5553CATA[7] NM_001136115.3:c.516+5553CATA[8] NM_001136115.3:c.516+5553CATA[10] NM_001136115.3:c.516+5553CATA[11] NM_001136115.3:c.516+5553CATA[12] NM_001136115.3:c.516+5553CATA[13] NM_001136115.3:c.516+5553CATA[14]
FBXO28 transcript variant 1 NM_015176.3:c.516+5553= NM_015176.3:c.516+5553CATA[4] NM_015176.3:c.516+5553CATA[5] NM_015176.3:c.516+5553CATA[6] NM_015176.3:c.516+5553CATA[7] NM_015176.3:c.516+5553CATA[8] NM_015176.3:c.516+5553CATA[10] NM_015176.3:c.516+5553CATA[11] NM_015176.3:c.516+5553CATA[12] NM_015176.3:c.516+5553CATA[13] NM_015176.3:c.516+5553CATA[14]
FBXO28 transcript variant 1 NM_015176.4:c.516+5553= NM_015176.4:c.516+5553CATA[4] NM_015176.4:c.516+5553CATA[5] NM_015176.4:c.516+5553CATA[6] NM_015176.4:c.516+5553CATA[7] NM_015176.4:c.516+5553CATA[8] NM_015176.4:c.516+5553CATA[10] NM_015176.4:c.516+5553CATA[11] NM_015176.4:c.516+5553CATA[12] NM_015176.4:c.516+5553CATA[13] NM_015176.4:c.516+5553CATA[14]
LOC124903813 transcript XM_047436340.1:c.246+2816= XM_047436340.1:c.246+2781TATG[4] XM_047436340.1:c.246+2781TATG[5] XM_047436340.1:c.246+2781TATG[6] XM_047436340.1:c.246+2781TATG[7] XM_047436340.1:c.246+2781TATG[8] XM_047436340.1:c.246+2781TATG[10] XM_047436340.1:c.246+2781TATG[11] XM_047436340.1:c.246+2781TATG[12] XM_047436340.1:c.246+2781TATG[13] XM_047436340.1:c.246+2781TATG[14]
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#.

37 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82328317 Dec 14, 2007 (129)
2 HGSV ss82700830 Dec 14, 2007 (129)
3 HUMANGENOME_JCVI ss95256272 Mar 15, 2016 (147)
4 HUMANGENOME_JCVI ss95256273 Mar 15, 2016 (147)
5 HUMANGENOME_JCVI ss98582604 Mar 15, 2016 (147)
6 SSMP ss663161571 Apr 01, 2015 (144)
7 BILGI_BIOE ss666128807 Apr 25, 2013 (138)
8 DDI ss1536266835 Apr 01, 2015 (144)
9 SWEGEN ss2988534595 Nov 08, 2017 (151)
10 MCHAISSO ss3063628268 Nov 08, 2017 (151)
11 MCHAISSO ss3064446345 Nov 08, 2017 (151)
12 MCHAISSO ss3065352577 Nov 08, 2017 (151)
13 URBANLAB ss3646898568 Oct 11, 2018 (152)
14 PACBIO ss3783701454 Jul 12, 2019 (153)
15 PACBIO ss3789311458 Jul 12, 2019 (153)
16 PACBIO ss3794183883 Jul 12, 2019 (153)
17 KHV_HUMAN_GENOMES ss3800401706 Jul 12, 2019 (153)
18 EVA ss3826670241 Apr 25, 2020 (154)
19 GNOMAD ss4012174895 Apr 25, 2021 (155)
20 GNOMAD ss4012174896 Apr 25, 2021 (155)
21 GNOMAD ss4012174897 Apr 25, 2021 (155)
22 GNOMAD ss4012174898 Apr 25, 2021 (155)
23 GNOMAD ss4012174899 Apr 25, 2021 (155)
24 GNOMAD ss4012174930 Apr 25, 2021 (155)
25 GNOMAD ss4012174931 Apr 25, 2021 (155)
26 GNOMAD ss4012174932 Apr 25, 2021 (155)
27 GNOMAD ss4012174933 Apr 25, 2021 (155)
28 GNOMAD ss4012174934 Apr 25, 2021 (155)
29 TOPMED ss4485357088 Apr 25, 2021 (155)
30 TOMMO_GENOMICS ss5148661355 Apr 25, 2021 (155)
31 TOMMO_GENOMICS ss5148661359 Apr 25, 2021 (155)
32 1000G_HIGH_COVERAGE ss5245972307 Oct 12, 2022 (156)
33 HUGCELL_USP ss5446390048 Oct 12, 2022 (156)
34 TOMMO_GENOMICS ss5676485965 Oct 12, 2022 (156)
35 TOMMO_GENOMICS ss5676485968 Oct 12, 2022 (156)
36 EVA ss5833333451 Oct 12, 2022 (156)
37 EVA ss5980017783 Oct 12, 2022 (156)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

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

Submission ignored due to conflicting rows:
Row 41036698 (NC_000001.11:224139764::CATA 347/134426)
Row 41036699 (NC_000001.11:224139764::CATACATA 333/134378)
Row 41036700 (NC_000001.11:224139764::CATACATACATA 174/134424)...

- Apr 25, 2021 (155)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 6630662 (NC_000001.10:224327466:CATA: 8043/16760)
Row 6630666 (NC_000001.10:224327466::CATACATACATA 212/16760)

- Apr 25, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 6630662 (NC_000001.10:224327466:CATA: 8043/16760)
Row 6630666 (NC_000001.10:224327466::CATACATACATA 212/16760)

- Apr 25, 2021 (155)
50 14KJPN

Submission ignored due to conflicting rows:
Row 10323069 (NC_000001.11:224139764:CATA: 13650/28256)
Row 10323072 (NC_000001.11:224139764::CATACATACATA 343/28256)

- Oct 12, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 10323069 (NC_000001.11:224139764:CATA: 13650/28256)
Row 10323072 (NC_000001.11:224139764::CATACATACATA 343/28256)

- Oct 12, 2022 (156)
52 TopMed NC_000001.11 - 224139765 Apr 25, 2021 (155)
53 A Vietnamese Genetic Variation Database NC_000001.10 - 224327467 Jul 12, 2019 (153)
54 ALFA NC_000001.11 - 224139765 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4012174934 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATA:

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACAT

(self)
ss4012174933 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATA:

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACAT

(self)
ss4012174932 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATA:

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACAT

(self)
ss4012174931 NC_000001.11:224139764:CATACATA: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACAT

(self)
ss95256272 NT_167186.1:17845248:ACATACAT: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACAT

(self)
685319, ss663161571, ss666128807, ss1536266835, ss2988534595, ss3783701454, ss3789311458, ss3794183883, ss3826670241, ss5148661355, ss5833333451, ss5980017783 NC_000001.10:224327466:CATA: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

(self)
ss3800401706, ss4012174930, ss5245972307, ss5446390048, ss5676485965 NC_000001.11:224139764:CATA: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

(self)
ss3646898568 NC_000001.11:224139782:TACA: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

(self)
ss95256273 NT_167186.1:17845261:CATA: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

(self)
ss98582604 NT_167186.1:17845279:TACA: NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACAT

(self)
48963423, ss4012174895, ss4485357088 NC_000001.11:224139764::CATA NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACAT

(self)
ss95256273 NT_167186.1:17845261:CATA:CATACATA NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACAT

(self)
ss3063628268, ss3064446345, ss3065352577, ss4012174896 NC_000001.11:224139764::CATACATA NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACAT

(self)
ss82328317, ss82700830 NT_167186.1:17845284::ACATACAT NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACAT

(self)
ss5148661359 NC_000001.10:224327466::CATACATACA…

NC_000001.10:224327466::CATACATACATA

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
ss4012174897, ss5676485968 NC_000001.11:224139764::CATACATACA…

NC_000001.11:224139764::CATACATACATA

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
ss98582604 NT_167186.1:17845279:TACA:TACATACA…

NT_167186.1:17845279:TACA:TACATACATACATACA

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
ss4012174898 NC_000001.11:224139764::CATACATACA…

NC_000001.11:224139764::CATACATACATACATA

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
ss4012174899 NC_000001.11:224139764::CATACATACA…

NC_000001.11:224139764::CATACATACATACATACATA

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT

(self)
7292953316 NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT

NC_000001.11:224139764:CATACATACAT…

NC_000001.11:224139764:CATACATACATACATACATACATACATACATACATACAT:CATACATACATACATACATACATACATACATACATACATACATACATACATACATACAT

(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 rs57108038

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.post761+d5e8e07