Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs60080861

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:73494061-73494088 (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(GT)7 / del(GT)6 / del(GT)5 / d…

del(GT)7 / del(GT)6 / del(GT)5 / del(GT)4 / del(GT)3 / delGTGT / delGT / dupGT / dupGTGT / dup(GT)3 / dup(GT)4 / dup(GT)6

Variation Type
Indel Insertion and Deletion
Frequency
(GT)14=0.2604 (1304/5008, 1000G)
delGTGT=0.2241 (1006/4490, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AFM : 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 4490 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0477 GTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGT=0.0018, GTGTGTGTGTGTGTGTGTGTGTGT=0.2241, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0009, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.6837, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0414, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0004, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000 0.058634 0.560516 0.38085 0
European Sub 4456 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0422 GTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGT=0.0018, GTGTGTGTGTGTGTGTGTGTGTGT=0.2253, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0009, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.6881, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0413, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0004, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000 0.058697 0.560582 0.380722 0
African Sub 26 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 0 0 0 N/A
African Others Sub 6 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0 GTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0 0 0 0 N/A
African American Sub 20 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00 GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00 0 0 0 N/A
Asian Sub 0 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 GTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 0 0 0 N/A
East Asian Sub 0 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 GTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 0 0 0 N/A
Other Asian Sub 0 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 GTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 0 0 0 N/A
Latin American 1 Sub 0 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 GTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 0 0 0 N/A
Latin American 2 Sub 0 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 GTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 0 0 0 N/A
South Asian Sub 0 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 GTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0 0 0 0 N/A
Other Sub 8 GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0 GTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGT=0.2, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.5, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.2, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0 0.0 0.5 0.5 0


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 -

No frequency provided

dupGT=0.7396
1000Genomes African Sub 1322 -

No frequency provided

dupGT=0.6293
1000Genomes East Asian Sub 1008 -

No frequency provided

dupGT=0.7976
1000Genomes Europe Sub 1006 -

No frequency provided

dupGT=0.7674
1000Genomes South Asian Sub 978 -

No frequency provided

dupGT=0.785
1000Genomes American Sub 694 -

No frequency provided

dupGT=0.761
Allele Frequency Aggregator Total Global 4490 (GT)14=0.0477 del(GT)7=0.0000, del(GT)6=0.0000, del(GT)5=0.0000, del(GT)4=0.0000, del(GT)3=0.0018, delGTGT=0.2241, delGT=0.0009, dupGT=0.6837, dupGTGT=0.0414, dup(GT)3=0.0004, dup(GT)4=0.0000, dup(GT)6=0.0000
Allele Frequency Aggregator European Sub 4456 (GT)14=0.0422 del(GT)7=0.0000, del(GT)6=0.0000, del(GT)5=0.0000, del(GT)4=0.0000, del(GT)3=0.0018, delGTGT=0.2253, delGT=0.0009, dupGT=0.6881, dupGTGT=0.0413, dup(GT)3=0.0004, dup(GT)4=0.0000, dup(GT)6=0.0000
Allele Frequency Aggregator African Sub 26 (GT)14=1.00 del(GT)7=0.00, del(GT)6=0.00, del(GT)5=0.00, del(GT)4=0.00, del(GT)3=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)3=0.00, dup(GT)4=0.00, dup(GT)6=0.00
Allele Frequency Aggregator Other Sub 8 (GT)14=0.0 del(GT)7=0.0, del(GT)6=0.0, del(GT)5=0.0, del(GT)4=0.0, del(GT)3=0.0, delGTGT=0.2, delGT=0.0, dupGT=0.5, dupGTGT=0.2, dup(GT)3=0.0, dup(GT)4=0.0, dup(GT)6=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (GT)14=0 del(GT)7=0, del(GT)6=0, del(GT)5=0, del(GT)4=0, del(GT)3=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)3=0, dup(GT)4=0, dup(GT)6=0
Allele Frequency Aggregator Latin American 2 Sub 0 (GT)14=0 del(GT)7=0, del(GT)6=0, del(GT)5=0, del(GT)4=0, del(GT)3=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)3=0, dup(GT)4=0, dup(GT)6=0
Allele Frequency Aggregator South Asian Sub 0 (GT)14=0 del(GT)7=0, del(GT)6=0, del(GT)5=0, del(GT)4=0, del(GT)3=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)3=0, dup(GT)4=0, dup(GT)6=0
Allele Frequency Aggregator Asian Sub 0 (GT)14=0 del(GT)7=0, del(GT)6=0, del(GT)5=0, del(GT)4=0, del(GT)3=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)3=0, dup(GT)4=0, dup(GT)6=0
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 4 NC_000004.12:g.73494061GT[7]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[8]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[9]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[10]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[11]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[12]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[13]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[15]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[16]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[17]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[18]
GRCh38.p14 chr 4 NC_000004.12:g.73494061GT[20]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[7]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[8]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[9]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[10]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[11]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[12]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[13]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[15]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[16]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[17]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[18]
GRCh37.p13 chr 4 NC_000004.11:g.74359778GT[20]
Gene: AFM, afamin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AFM transcript NM_001133.2:c.1059-1239GT…

NM_001133.2:c.1059-1239GT[7]

N/A Intron Variant
AFM transcript variant X1 XM_017007842.3:c.1059-123…

XM_017007842.3:c.1059-1239GT[7]

N/A Intron Variant
AFM transcript variant X2 XM_017007843.3:c.1059-123…

XM_017007843.3:c.1059-1239GT[7]

N/A Intron Variant
AFM transcript variant X3 XM_017007844.3:c.1059-123…

XM_017007844.3:c.1059-1239GT[7]

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 (GT)14= del(GT)7 del(GT)6 del(GT)5 del(GT)4 del(GT)3 delGTGT delGT dupGT dupGTGT dup(GT)3 dup(GT)4 dup(GT)6
GRCh38.p14 chr 4 NC_000004.12:g.73494061_73494088= NC_000004.12:g.73494061GT[7] NC_000004.12:g.73494061GT[8] NC_000004.12:g.73494061GT[9] NC_000004.12:g.73494061GT[10] NC_000004.12:g.73494061GT[11] NC_000004.12:g.73494061GT[12] NC_000004.12:g.73494061GT[13] NC_000004.12:g.73494061GT[15] NC_000004.12:g.73494061GT[16] NC_000004.12:g.73494061GT[17] NC_000004.12:g.73494061GT[18] NC_000004.12:g.73494061GT[20]
GRCh37.p13 chr 4 NC_000004.11:g.74359778_74359805= NC_000004.11:g.74359778GT[7] NC_000004.11:g.74359778GT[8] NC_000004.11:g.74359778GT[9] NC_000004.11:g.74359778GT[10] NC_000004.11:g.74359778GT[11] NC_000004.11:g.74359778GT[12] NC_000004.11:g.74359778GT[13] NC_000004.11:g.74359778GT[15] NC_000004.11:g.74359778GT[16] NC_000004.11:g.74359778GT[17] NC_000004.11:g.74359778GT[18] NC_000004.11:g.74359778GT[20]
AFM transcript NM_001133.2:c.1059-1239= NM_001133.2:c.1059-1239GT[7] NM_001133.2:c.1059-1239GT[8] NM_001133.2:c.1059-1239GT[9] NM_001133.2:c.1059-1239GT[10] NM_001133.2:c.1059-1239GT[11] NM_001133.2:c.1059-1239GT[12] NM_001133.2:c.1059-1239GT[13] NM_001133.2:c.1059-1239GT[15] NM_001133.2:c.1059-1239GT[16] NM_001133.2:c.1059-1239GT[17] NM_001133.2:c.1059-1239GT[18] NM_001133.2:c.1059-1239GT[20]
AFM transcript variant X1 XM_017007842.3:c.1059-1239= XM_017007842.3:c.1059-1239GT[7] XM_017007842.3:c.1059-1239GT[8] XM_017007842.3:c.1059-1239GT[9] XM_017007842.3:c.1059-1239GT[10] XM_017007842.3:c.1059-1239GT[11] XM_017007842.3:c.1059-1239GT[12] XM_017007842.3:c.1059-1239GT[13] XM_017007842.3:c.1059-1239GT[15] XM_017007842.3:c.1059-1239GT[16] XM_017007842.3:c.1059-1239GT[17] XM_017007842.3:c.1059-1239GT[18] XM_017007842.3:c.1059-1239GT[20]
AFM transcript variant X2 XM_017007843.3:c.1059-1239= XM_017007843.3:c.1059-1239GT[7] XM_017007843.3:c.1059-1239GT[8] XM_017007843.3:c.1059-1239GT[9] XM_017007843.3:c.1059-1239GT[10] XM_017007843.3:c.1059-1239GT[11] XM_017007843.3:c.1059-1239GT[12] XM_017007843.3:c.1059-1239GT[13] XM_017007843.3:c.1059-1239GT[15] XM_017007843.3:c.1059-1239GT[16] XM_017007843.3:c.1059-1239GT[17] XM_017007843.3:c.1059-1239GT[18] XM_017007843.3:c.1059-1239GT[20]
AFM transcript variant X3 XM_017007844.3:c.1059-1239= XM_017007844.3:c.1059-1239GT[7] XM_017007844.3:c.1059-1239GT[8] XM_017007844.3:c.1059-1239GT[9] XM_017007844.3:c.1059-1239GT[10] XM_017007844.3:c.1059-1239GT[11] XM_017007844.3:c.1059-1239GT[12] XM_017007844.3:c.1059-1239GT[13] XM_017007844.3:c.1059-1239GT[15] XM_017007844.3:c.1059-1239GT[16] XM_017007844.3:c.1059-1239GT[17] XM_017007844.3:c.1059-1239GT[18] XM_017007844.3:c.1059-1239GT[20]
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#.

78 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81964234 Dec 15, 2007 (129)
2 HGSV ss82089610 Dec 15, 2007 (129)
3 HGSV ss82134376 Dec 15, 2007 (129)
4 HUMANGENOME_JCVI ss95358950 Mar 15, 2016 (147)
5 HUMANGENOME_JCVI ss98912076 Mar 15, 2016 (147)
6 GMI ss287750290 Dec 06, 2013 (138)
7 GMI ss288541205 May 04, 2012 (137)
8 GMI ss288541207 May 04, 2012 (137)
9 GMI ss288541209 May 04, 2012 (138)
10 PJP ss295171819 May 09, 2011 (137)
11 1000GENOMES ss326534141 May 09, 2011 (134)
12 1000GENOMES ss326731932 Jan 10, 2018 (151)
13 LUNTER ss551376366 Apr 25, 2013 (138)
14 LUNTER ss551497271 Jan 10, 2018 (151)
15 LUNTER ss553136073 Apr 25, 2013 (138)
16 BILGI_BIOE ss666264007 Apr 25, 2013 (138)
17 1000GENOMES ss1372316745 Aug 21, 2014 (142)
18 EVA_UK10K_ALSPAC ss1704209043 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1704209079 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1710152851 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1710152859 Apr 01, 2015 (144)
22 SWEGEN ss2994916102 Nov 08, 2017 (151)
23 MCHAISSO ss3064974683 Jan 10, 2018 (151)
24 MCHAISSO ss3065956269 Jan 10, 2018 (151)
25 MCHAISSO ss3065956270 Nov 08, 2017 (151)
26 URBANLAB ss3647762757 Oct 12, 2018 (152)
27 URBANLAB ss3647762758 Oct 12, 2018 (152)
28 URBANLAB ss3647762759 Oct 12, 2018 (152)
29 EVA_DECODE ss3712305359 Jul 13, 2019 (153)
30 EVA_DECODE ss3712305360 Jul 13, 2019 (153)
31 EVA_DECODE ss3712305361 Jul 13, 2019 (153)
32 EVA_DECODE ss3712305362 Jul 13, 2019 (153)
33 EVA_DECODE ss3712305363 Jul 13, 2019 (153)
34 PACBIO ss3784754241 Jul 13, 2019 (153)
35 PACBIO ss3784754242 Jul 13, 2019 (153)
36 PACBIO ss3790206722 Jul 13, 2019 (153)
37 PACBIO ss3790206723 Jul 13, 2019 (153)
38 PACBIO ss3795082046 Jul 13, 2019 (153)
39 PACBIO ss3795082047 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3805097773 Jul 13, 2019 (153)
41 KHV_HUMAN_GENOMES ss3805097774 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3805097775 Jul 13, 2019 (153)
43 EVA ss3828610658 Apr 26, 2020 (154)
44 GNOMAD ss4113549856 Apr 26, 2021 (155)
45 GNOMAD ss4113549857 Apr 26, 2021 (155)
46 GNOMAD ss4113549858 Apr 26, 2021 (155)
47 GNOMAD ss4113549859 Apr 26, 2021 (155)
48 GNOMAD ss4113549860 Apr 26, 2021 (155)
49 GNOMAD ss4113549861 Apr 26, 2021 (155)
50 GNOMAD ss4113549862 Apr 26, 2021 (155)
51 GNOMAD ss4113549863 Apr 26, 2021 (155)
52 GNOMAD ss4113549864 Apr 26, 2021 (155)
53 GNOMAD ss4113549865 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5166292174 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5166292175 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5166292176 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5166292177 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5166292178 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5166292179 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5259662018 Oct 17, 2022 (156)
61 1000G_HIGH_COVERAGE ss5259662019 Oct 17, 2022 (156)
62 1000G_HIGH_COVERAGE ss5259662020 Oct 17, 2022 (156)
63 1000G_HIGH_COVERAGE ss5259662021 Oct 17, 2022 (156)
64 1000G_HIGH_COVERAGE ss5259662022 Oct 17, 2022 (156)
65 1000G_HIGH_COVERAGE ss5259662023 Oct 17, 2022 (156)
66 HUGCELL_USP ss5458370529 Oct 17, 2022 (156)
67 HUGCELL_USP ss5458370530 Oct 17, 2022 (156)
68 HUGCELL_USP ss5458370531 Oct 17, 2022 (156)
69 HUGCELL_USP ss5458370532 Oct 17, 2022 (156)
70 HUGCELL_USP ss5458370533 Oct 17, 2022 (156)
71 TOMMO_GENOMICS ss5700797174 Oct 17, 2022 (156)
72 TOMMO_GENOMICS ss5700797175 Oct 17, 2022 (156)
73 TOMMO_GENOMICS ss5700797176 Oct 17, 2022 (156)
74 TOMMO_GENOMICS ss5700797177 Oct 17, 2022 (156)
75 TOMMO_GENOMICS ss5700797178 Oct 17, 2022 (156)
76 TOMMO_GENOMICS ss5700797179 Oct 17, 2022 (156)
77 EVA ss5844176177 Oct 17, 2022 (156)
78 EVA ss5844176178 Oct 17, 2022 (156)
79 1000Genomes NC_000004.11 - 74359778 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 12050325 (NC_000004.11:74359777::GT 2261/3854)
Row 12050326 (NC_000004.11:74359777:GTGT: 1009/3854)

- Oct 12, 2018 (152)
81 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 12050325 (NC_000004.11:74359777::GT 2261/3854)
Row 12050326 (NC_000004.11:74359777:GTGT: 1009/3854)

- Oct 12, 2018 (152)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 153567163 (NC_000004.12:73494060::GT 77381/135940)
Row 153567164 (NC_000004.12:73494060::GTGT 3294/136130)
Row 153567165 (NC_000004.12:73494060::GTGTGT 89/136158)...

- Apr 26, 2021 (155)
92 8.3KJPN

Submission ignored due to conflicting rows:
Row 24261481 (NC_000004.11:74359777::GT 10289/16760)
Row 24261482 (NC_000004.11:74359777:GT: 1700/16760)
Row 24261483 (NC_000004.11:74359777:GTGTGT: 1949/16760)...

- Apr 26, 2021 (155)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 24261481 (NC_000004.11:74359777::GT 10289/16760)
Row 24261482 (NC_000004.11:74359777:GT: 1700/16760)
Row 24261483 (NC_000004.11:74359777:GTGTGT: 1949/16760)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 24261481 (NC_000004.11:74359777::GT 10289/16760)
Row 24261482 (NC_000004.11:74359777:GT: 1700/16760)
Row 24261483 (NC_000004.11:74359777:GTGTGT: 1949/16760)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 24261481 (NC_000004.11:74359777::GT 10289/16760)
Row 24261482 (NC_000004.11:74359777:GT: 1700/16760)
Row 24261483 (NC_000004.11:74359777:GTGTGT: 1949/16760)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 24261481 (NC_000004.11:74359777::GT 10289/16760)
Row 24261482 (NC_000004.11:74359777:GT: 1700/16760)
Row 24261483 (NC_000004.11:74359777:GTGTGT: 1949/16760)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 24261481 (NC_000004.11:74359777::GT 10289/16760)
Row 24261482 (NC_000004.11:74359777:GT: 1700/16760)
Row 24261483 (NC_000004.11:74359777:GTGTGT: 1949/16760)...

- Apr 26, 2021 (155)
98 14KJPN

Submission ignored due to conflicting rows:
Row 34634278 (NC_000004.12:73494060:GTGTGT: 3298/28258)
Row 34634279 (NC_000004.12:73494060::GT 17300/28258)
Row 34634280 (NC_000004.12:73494060:GT: 2969/28258)...

- Oct 17, 2022 (156)
99 14KJPN

Submission ignored due to conflicting rows:
Row 34634278 (NC_000004.12:73494060:GTGTGT: 3298/28258)
Row 34634279 (NC_000004.12:73494060::GT 17300/28258)
Row 34634280 (NC_000004.12:73494060:GT: 2969/28258)...

- Oct 17, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 34634278 (NC_000004.12:73494060:GTGTGT: 3298/28258)
Row 34634279 (NC_000004.12:73494060::GT 17300/28258)
Row 34634280 (NC_000004.12:73494060:GT: 2969/28258)...

- Oct 17, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 34634278 (NC_000004.12:73494060:GTGTGT: 3298/28258)
Row 34634279 (NC_000004.12:73494060::GT 17300/28258)
Row 34634280 (NC_000004.12:73494060:GT: 2969/28258)...

- Oct 17, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 34634278 (NC_000004.12:73494060:GTGTGT: 3298/28258)
Row 34634279 (NC_000004.12:73494060::GT 17300/28258)
Row 34634280 (NC_000004.12:73494060:GT: 2969/28258)...

- Oct 17, 2022 (156)
103 14KJPN

Submission ignored due to conflicting rows:
Row 34634278 (NC_000004.12:73494060:GTGTGT: 3298/28258)
Row 34634279 (NC_000004.12:73494060::GT 17300/28258)
Row 34634280 (NC_000004.12:73494060:GT: 2969/28258)...

- Oct 17, 2022 (156)
104 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 12050325 (NC_000004.11:74359777::GT 2207/3708)
Row 12050326 (NC_000004.11:74359777:GTGT: 942/3708)

- Oct 12, 2018 (152)
105 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 12050325 (NC_000004.11:74359777::GT 2207/3708)
Row 12050326 (NC_000004.11:74359777:GTGT: 942/3708)

- Oct 12, 2018 (152)
106 ALFA NC_000004.12 - 73494061 Apr 26, 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)
rs68081408 Dec 02, 2009 (131)
rs68081409 Feb 27, 2009 (130)
rs68081410 Feb 27, 2009 (130)
rs71217475 May 11, 2012 (137)
rs72388157 May 11, 2012 (137)
rs146033578 Sep 17, 2011 (135)
rs147094566 May 15, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4113549865 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGT:

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT

(self)
ss4113549864 NC_000004.12:73494060:GTGTGTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT

(self)
ss288541205 NC_000004.10:74578641:GTGTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

(self)
ss2994916102, ss5166292176 NC_000004.11:74359777:GTGTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

(self)
ss3712305363, ss4113549863, ss5259662022, ss5458370532, ss5700797174 NC_000004.12:73494060:GTGTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT

(self)
ss288541207, ss295171819, ss551376366 NC_000004.10:74578641:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss1704209043, ss1704209079, ss3784754241, ss3790206722, ss3795082046, ss5166292177, ss5844176178 NC_000004.11:74359777:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3065956270, ss3805097773, ss4113549862, ss5259662018, ss5458370529, ss5700797177 NC_000004.12:73494060:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3712305362 NC_000004.12:73494062:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3647762758 NC_000004.12:73494082:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3647762759 NC_000004.12:73494084:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss98912076 NT_022778.16:14570445:TGTG: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss95358950 NT_022778.16:14570468:GTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss81964234, ss82089610, ss82134376 NC_000004.9:74724838:GT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss326731932, ss551497271 NC_000004.10:74578641:GT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5166292175 NC_000004.11:74359777:GT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4113549861, ss5259662020, ss5458370530, ss5700797176 NC_000004.12:73494060:GT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3712305361 NC_000004.12:73494064:GT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss326534141, ss553136073 NC_000004.10:74578641::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss288541209 NC_000004.10:74578669::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
21679361, ss666264007, ss1372316745, ss3784754242, ss3790206723, ss3795082047, ss3828610658, ss5166292174, ss5844176177 NC_000004.11:74359777::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss1710152851, ss1710152859 NC_000004.11:74359781::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3064974683, ss3065956269, ss3805097775, ss4113549856, ss5259662019, ss5458370531, ss5700797175 NC_000004.12:73494060::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3805097774 NC_000004.12:73494064::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3712305360 NC_000004.12:73494066::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3647762757 NC_000004.12:73494081::TG NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss98912076 NT_022778.16:14570445:TGTG:TGTGTG NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss287750290 NT_022778.16:14570472::GT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5166292178 NC_000004.11:74359777::GTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4113549857, ss5259662021, ss5458370533, ss5700797178 NC_000004.12:73494060::GTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss3712305359 NC_000004.12:73494066::GTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss5166292179 NC_000004.11:74359777::GTGTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4113549858, ss5259662023, ss5700797179 NC_000004.12:73494060::GTGTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4113549859 NC_000004.12:73494060::GTGTGTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
ss4113549860 NC_000004.12:73494060::GTGTGTGTGTGT NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
5430672059 NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3432509680 NC_000004.12:73494060:GTGTGTGTGTGT: NC_000004.12:73494060:GTGTGTGTGTGT…

NC_000004.12:73494060:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT

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 rs60080861

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