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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.

rs11290884

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:59375098-59375111 (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
delAAA / delAA / delA / dupA / dup…

delAAA / delAA / delA / dupA / dupAA

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.06637 (818/12324, ALFA)
delA=0.2177 (1090/5008, 1000G)
delA=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGGY : 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 12324 AAAAAAAAAAAAAA=0.92332 AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.06637, AAAAAAAAAAAAAAA=0.01031, AAAAAAAAAAAAAAAA=0.00000
European Sub 9314 AAAAAAAAAAAAAA=0.8985 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0878, AAAAAAAAAAAAAAA=0.0136, AAAAAAAAAAAAAAAA=0.0000
African Sub 1952 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000
African Others Sub 70 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00
African American Sub 1882 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000
Asian Sub 90 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00
East Asian Sub 72 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00
Other Asian Sub 18 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00
Latin American 1 Sub 84 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00
Latin American 2 Sub 484 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000
South Asian Sub 68 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00
Other Sub 332 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator Total Global 12324 (A)14=0.92332 delAAA=0.00000, delAA=0.00000, delA=0.06637, dupA=0.01031, dupAA=0.00000
Allele Frequency Aggregator European Sub 9314 (A)14=0.8985 delAAA=0.0000, delAA=0.0000, delA=0.0878, dupA=0.0136, dupAA=0.0000
Allele Frequency Aggregator African Sub 1952 (A)14=1.0000 delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 484 (A)14=1.000 delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 332 (A)14=1.000 delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Asian Sub 90 (A)14=1.00 delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 84 (A)14=1.00 delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 68 (A)14=1.00 delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
1000Genomes Global Study-wide 5008 (A)14=0.7823 delA=0.2177
1000Genomes African Sub 1322 (A)14=0.7708 delA=0.2292
1000Genomes East Asian Sub 1008 (A)14=0.8175 delA=0.1825
1000Genomes Europe Sub 1006 (A)14=0.7604 delA=0.2396
1000Genomes South Asian Sub 978 (A)14=0.768 delA=0.232
1000Genomes American Sub 694 (A)14=0.805 delA=0.195
The Danish reference pan genome Danish Study-wide 40 (A)14=0.82 delA=0.17
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.59375109_59375111del
GRCh38.p14 chr 1 NC_000001.11:g.59375110_59375111del
GRCh38.p14 chr 1 NC_000001.11:g.59375111del
GRCh38.p14 chr 1 NC_000001.11:g.59375111dup
GRCh38.p14 chr 1 NC_000001.11:g.59375110_59375111dup
GRCh37.p13 chr 1 NC_000001.10:g.59840781_59840783del
GRCh37.p13 chr 1 NC_000001.10:g.59840782_59840783del
GRCh37.p13 chr 1 NC_000001.10:g.59840783del
GRCh37.p13 chr 1 NC_000001.10:g.59840783dup
GRCh37.p13 chr 1 NC_000001.10:g.59840782_59840783dup
FGGY RefSeqGene NG_030039.1:g.83157_83159del
FGGY RefSeqGene NG_030039.1:g.83158_83159del
FGGY RefSeqGene NG_030039.1:g.83159del
FGGY RefSeqGene NG_030039.1:g.83159dup
FGGY RefSeqGene NG_030039.1:g.83158_83159dup
Gene: FGGY, FGGY carbohydrate kinase domain containing (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FGGY transcript variant 1 NM_001113411.2:c.466-3640…

NM_001113411.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant 3 NM_001244714.2:c.202-3640…

NM_001244714.2:c.202-3640_202-3638del

N/A Intron Variant
FGGY transcript variant 6 NM_001350790.2:c.466-3640…

NM_001350790.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant 7 NM_001350791.2:c.466-3640…

NM_001350791.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant 8 NM_001350792.2:c.298-3640…

NM_001350792.2:c.298-3640_298-3638del

N/A Intron Variant
FGGY transcript variant 9 NM_001350793.2:c.298-3640…

NM_001350793.2:c.298-3640_298-3638del

N/A Intron Variant
FGGY transcript variant 10 NM_001350794.2:c.466-3640…

NM_001350794.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant 11 NM_001350795.2:c.202-3640…

NM_001350795.2:c.202-3640_202-3638del

N/A Intron Variant
FGGY transcript variant 12 NM_001350796.2:c.130-3640…

NM_001350796.2:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant 13 NM_001350797.2:c.64-3640_…

NM_001350797.2:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant 14 NM_001350798.2:c.130-3640…

NM_001350798.2:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant 15 NM_001350799.2:c.130-3640…

NM_001350799.2:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant 2 NM_018291.5:c.466-3640_46…

NM_018291.5:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant 4 NM_001278224.2:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant 5 NR_103473.2:n. N/A Intron Variant
FGGY transcript variant X2 XM_011541730.2:c.466-3640…

XM_011541730.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X4 XM_011541731.2:c.466-3640…

XM_011541731.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X20 XM_011541736.4:c.202-3640…

XM_011541736.4:c.202-3640_202-3638del

N/A Intron Variant
FGGY transcript variant X9 XM_017001643.3:c.466-3640…

XM_017001643.3:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X11 XM_017001645.2:c.466-3640…

XM_017001645.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X13 XM_017001646.2:c.466-3640…

XM_017001646.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X17 XM_017001649.2:c.466-3640…

XM_017001649.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X18 XM_017001652.2:c.466-3640…

XM_017001652.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X19 XM_017001655.2:c.202-3640…

XM_017001655.2:c.202-3640_202-3638del

N/A Intron Variant
FGGY transcript variant X23 XM_017001662.3:c.130-3640…

XM_017001662.3:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant X25 XM_017001664.3:c.130-3640…

XM_017001664.3:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant X28 XM_017001668.1:c.64-3640_…

XM_017001668.1:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X31 XM_017001669.3:c.64-3640_…

XM_017001669.3:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X32 XM_017001670.3:c.64-3640_…

XM_017001670.3:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X33 XM_017001671.2:c.64-3640_…

XM_017001671.2:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X42 XM_017001679.2:c.466-3640…

XM_017001679.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X6 XM_024448176.2:c.466-3640…

XM_024448176.2:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X1 XM_047424380.1:c.466-3640…

XM_047424380.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X3 XM_047424381.1:c.466-3640…

XM_047424381.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X5 XM_047424382.1:c.466-3640…

XM_047424382.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X7 XM_047424383.1:c.466-3640…

XM_047424383.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X8 XM_047424384.1:c.466-3640…

XM_047424384.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X10 XM_047424385.1:c.466-3640…

XM_047424385.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X12 XM_047424386.1:c.466-3640…

XM_047424386.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X14 XM_047424387.1:c.466-3640…

XM_047424387.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X15 XM_047424388.1:c.466-3640…

XM_047424388.1:c.466-3640_466-3638del

N/A Intron Variant
FGGY transcript variant X16 XM_047424389.1:c.298-3640…

XM_047424389.1:c.298-3640_298-3638del

N/A Intron Variant
FGGY transcript variant X21 XM_047424390.1:c.202-3640…

XM_047424390.1:c.202-3640_202-3638del

N/A Intron Variant
FGGY transcript variant X22 XM_047424391.1:c.202-3640…

XM_047424391.1:c.202-3640_202-3638del

N/A Intron Variant
FGGY transcript variant X24 XM_047424392.1:c.130-3640…

XM_047424392.1:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant X26 XM_047424393.1:c.130-3640…

XM_047424393.1:c.130-3640_130-3638del

N/A Intron Variant
FGGY transcript variant X27 XM_047424394.1:c.64-3640_…

XM_047424394.1:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X29 XM_047424395.1:c.64-3640_…

XM_047424395.1:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X30 XM_047424396.1:c.64-3640_…

XM_047424396.1:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X34 XM_047424397.1:c.64-3640_…

XM_047424397.1:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X35 XM_047424398.1:c.64-3640_…

XM_047424398.1:c.64-3640_64-3638del

N/A Intron Variant
FGGY transcript variant X38 XM_017001677.2:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant X36 XM_017001678.2:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant X44 XM_024448229.2:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant X37 XM_047424399.1:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant X39 XM_047424400.1:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant X43 XM_047424401.1:c. N/A Genic Upstream Transcript Variant
FGGY transcript variant X40 XR_007061929.1:n. N/A Intron Variant
FGGY transcript variant X41 XR_007061930.1:n. 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)14= delAAA delAA delA dupA dupAA
GRCh38.p14 chr 1 NC_000001.11:g.59375098_59375111= NC_000001.11:g.59375109_59375111del NC_000001.11:g.59375110_59375111del NC_000001.11:g.59375111del NC_000001.11:g.59375111dup NC_000001.11:g.59375110_59375111dup
GRCh37.p13 chr 1 NC_000001.10:g.59840770_59840783= NC_000001.10:g.59840781_59840783del NC_000001.10:g.59840782_59840783del NC_000001.10:g.59840783del NC_000001.10:g.59840783dup NC_000001.10:g.59840782_59840783dup
FGGY RefSeqGene NG_030039.1:g.83146_83159= NG_030039.1:g.83157_83159del NG_030039.1:g.83158_83159del NG_030039.1:g.83159del NG_030039.1:g.83159dup NG_030039.1:g.83158_83159dup
FGGY transcript variant 1 NM_001113411.1:c.466-3651= NM_001113411.1:c.466-3640_466-3638del NM_001113411.1:c.466-3639_466-3638del NM_001113411.1:c.466-3638del NM_001113411.1:c.466-3638dup NM_001113411.1:c.466-3639_466-3638dup
FGGY transcript variant 1 NM_001113411.2:c.466-3651= NM_001113411.2:c.466-3640_466-3638del NM_001113411.2:c.466-3639_466-3638del NM_001113411.2:c.466-3638del NM_001113411.2:c.466-3638dup NM_001113411.2:c.466-3639_466-3638dup
FGGY transcript variant 3 NM_001244714.1:c.202-3651= NM_001244714.1:c.202-3640_202-3638del NM_001244714.1:c.202-3639_202-3638del NM_001244714.1:c.202-3638del NM_001244714.1:c.202-3638dup NM_001244714.1:c.202-3639_202-3638dup
FGGY transcript variant 3 NM_001244714.2:c.202-3651= NM_001244714.2:c.202-3640_202-3638del NM_001244714.2:c.202-3639_202-3638del NM_001244714.2:c.202-3638del NM_001244714.2:c.202-3638dup NM_001244714.2:c.202-3639_202-3638dup
FGGY transcript variant 6 NM_001350790.2:c.466-3651= NM_001350790.2:c.466-3640_466-3638del NM_001350790.2:c.466-3639_466-3638del NM_001350790.2:c.466-3638del NM_001350790.2:c.466-3638dup NM_001350790.2:c.466-3639_466-3638dup
FGGY transcript variant 7 NM_001350791.2:c.466-3651= NM_001350791.2:c.466-3640_466-3638del NM_001350791.2:c.466-3639_466-3638del NM_001350791.2:c.466-3638del NM_001350791.2:c.466-3638dup NM_001350791.2:c.466-3639_466-3638dup
FGGY transcript variant 8 NM_001350792.2:c.298-3651= NM_001350792.2:c.298-3640_298-3638del NM_001350792.2:c.298-3639_298-3638del NM_001350792.2:c.298-3638del NM_001350792.2:c.298-3638dup NM_001350792.2:c.298-3639_298-3638dup
FGGY transcript variant 9 NM_001350793.2:c.298-3651= NM_001350793.2:c.298-3640_298-3638del NM_001350793.2:c.298-3639_298-3638del NM_001350793.2:c.298-3638del NM_001350793.2:c.298-3638dup NM_001350793.2:c.298-3639_298-3638dup
FGGY transcript variant 10 NM_001350794.2:c.466-3651= NM_001350794.2:c.466-3640_466-3638del NM_001350794.2:c.466-3639_466-3638del NM_001350794.2:c.466-3638del NM_001350794.2:c.466-3638dup NM_001350794.2:c.466-3639_466-3638dup
FGGY transcript variant 11 NM_001350795.2:c.202-3651= NM_001350795.2:c.202-3640_202-3638del NM_001350795.2:c.202-3639_202-3638del NM_001350795.2:c.202-3638del NM_001350795.2:c.202-3638dup NM_001350795.2:c.202-3639_202-3638dup
FGGY transcript variant 12 NM_001350796.2:c.130-3651= NM_001350796.2:c.130-3640_130-3638del NM_001350796.2:c.130-3639_130-3638del NM_001350796.2:c.130-3638del NM_001350796.2:c.130-3638dup NM_001350796.2:c.130-3639_130-3638dup
FGGY transcript variant 13 NM_001350797.2:c.64-3651= NM_001350797.2:c.64-3640_64-3638del NM_001350797.2:c.64-3639_64-3638del NM_001350797.2:c.64-3638del NM_001350797.2:c.64-3638dup NM_001350797.2:c.64-3639_64-3638dup
FGGY transcript variant 14 NM_001350798.2:c.130-3651= NM_001350798.2:c.130-3640_130-3638del NM_001350798.2:c.130-3639_130-3638del NM_001350798.2:c.130-3638del NM_001350798.2:c.130-3638dup NM_001350798.2:c.130-3639_130-3638dup
FGGY transcript variant 15 NM_001350799.2:c.130-3651= NM_001350799.2:c.130-3640_130-3638del NM_001350799.2:c.130-3639_130-3638del NM_001350799.2:c.130-3638del NM_001350799.2:c.130-3638dup NM_001350799.2:c.130-3639_130-3638dup
FGGY transcript variant 2 NM_018291.3:c.466-3651= NM_018291.3:c.466-3640_466-3638del NM_018291.3:c.466-3639_466-3638del NM_018291.3:c.466-3638del NM_018291.3:c.466-3638dup NM_018291.3:c.466-3639_466-3638dup
FGGY transcript variant 2 NM_018291.5:c.466-3651= NM_018291.5:c.466-3640_466-3638del NM_018291.5:c.466-3639_466-3638del NM_018291.5:c.466-3638del NM_018291.5:c.466-3638dup NM_018291.5:c.466-3639_466-3638dup
FGGY transcript variant X2 XM_011541730.2:c.466-3651= XM_011541730.2:c.466-3640_466-3638del XM_011541730.2:c.466-3639_466-3638del XM_011541730.2:c.466-3638del XM_011541730.2:c.466-3638dup XM_011541730.2:c.466-3639_466-3638dup
FGGY transcript variant X4 XM_011541731.2:c.466-3651= XM_011541731.2:c.466-3640_466-3638del XM_011541731.2:c.466-3639_466-3638del XM_011541731.2:c.466-3638del XM_011541731.2:c.466-3638dup XM_011541731.2:c.466-3639_466-3638dup
FGGY transcript variant X20 XM_011541736.4:c.202-3651= XM_011541736.4:c.202-3640_202-3638del XM_011541736.4:c.202-3639_202-3638del XM_011541736.4:c.202-3638del XM_011541736.4:c.202-3638dup XM_011541736.4:c.202-3639_202-3638dup
FGGY transcript variant X9 XM_017001643.3:c.466-3651= XM_017001643.3:c.466-3640_466-3638del XM_017001643.3:c.466-3639_466-3638del XM_017001643.3:c.466-3638del XM_017001643.3:c.466-3638dup XM_017001643.3:c.466-3639_466-3638dup
FGGY transcript variant X11 XM_017001645.2:c.466-3651= XM_017001645.2:c.466-3640_466-3638del XM_017001645.2:c.466-3639_466-3638del XM_017001645.2:c.466-3638del XM_017001645.2:c.466-3638dup XM_017001645.2:c.466-3639_466-3638dup
FGGY transcript variant X13 XM_017001646.2:c.466-3651= XM_017001646.2:c.466-3640_466-3638del XM_017001646.2:c.466-3639_466-3638del XM_017001646.2:c.466-3638del XM_017001646.2:c.466-3638dup XM_017001646.2:c.466-3639_466-3638dup
FGGY transcript variant X17 XM_017001649.2:c.466-3651= XM_017001649.2:c.466-3640_466-3638del XM_017001649.2:c.466-3639_466-3638del XM_017001649.2:c.466-3638del XM_017001649.2:c.466-3638dup XM_017001649.2:c.466-3639_466-3638dup
FGGY transcript variant X18 XM_017001652.2:c.466-3651= XM_017001652.2:c.466-3640_466-3638del XM_017001652.2:c.466-3639_466-3638del XM_017001652.2:c.466-3638del XM_017001652.2:c.466-3638dup XM_017001652.2:c.466-3639_466-3638dup
FGGY transcript variant X19 XM_017001655.2:c.202-3651= XM_017001655.2:c.202-3640_202-3638del XM_017001655.2:c.202-3639_202-3638del XM_017001655.2:c.202-3638del XM_017001655.2:c.202-3638dup XM_017001655.2:c.202-3639_202-3638dup
FGGY transcript variant X23 XM_017001662.3:c.130-3651= XM_017001662.3:c.130-3640_130-3638del XM_017001662.3:c.130-3639_130-3638del XM_017001662.3:c.130-3638del XM_017001662.3:c.130-3638dup XM_017001662.3:c.130-3639_130-3638dup
FGGY transcript variant X25 XM_017001664.3:c.130-3651= XM_017001664.3:c.130-3640_130-3638del XM_017001664.3:c.130-3639_130-3638del XM_017001664.3:c.130-3638del XM_017001664.3:c.130-3638dup XM_017001664.3:c.130-3639_130-3638dup
FGGY transcript variant X28 XM_017001668.1:c.64-3651= XM_017001668.1:c.64-3640_64-3638del XM_017001668.1:c.64-3639_64-3638del XM_017001668.1:c.64-3638del XM_017001668.1:c.64-3638dup XM_017001668.1:c.64-3639_64-3638dup
FGGY transcript variant X31 XM_017001669.3:c.64-3651= XM_017001669.3:c.64-3640_64-3638del XM_017001669.3:c.64-3639_64-3638del XM_017001669.3:c.64-3638del XM_017001669.3:c.64-3638dup XM_017001669.3:c.64-3639_64-3638dup
FGGY transcript variant X32 XM_017001670.3:c.64-3651= XM_017001670.3:c.64-3640_64-3638del XM_017001670.3:c.64-3639_64-3638del XM_017001670.3:c.64-3638del XM_017001670.3:c.64-3638dup XM_017001670.3:c.64-3639_64-3638dup
FGGY transcript variant X33 XM_017001671.2:c.64-3651= XM_017001671.2:c.64-3640_64-3638del XM_017001671.2:c.64-3639_64-3638del XM_017001671.2:c.64-3638del XM_017001671.2:c.64-3638dup XM_017001671.2:c.64-3639_64-3638dup
FGGY transcript variant X42 XM_017001679.2:c.466-3651= XM_017001679.2:c.466-3640_466-3638del XM_017001679.2:c.466-3639_466-3638del XM_017001679.2:c.466-3638del XM_017001679.2:c.466-3638dup XM_017001679.2:c.466-3639_466-3638dup
FGGY transcript variant X6 XM_024448176.2:c.466-3651= XM_024448176.2:c.466-3640_466-3638del XM_024448176.2:c.466-3639_466-3638del XM_024448176.2:c.466-3638del XM_024448176.2:c.466-3638dup XM_024448176.2:c.466-3639_466-3638dup
FGGY transcript variant X1 XM_047424380.1:c.466-3651= XM_047424380.1:c.466-3640_466-3638del XM_047424380.1:c.466-3639_466-3638del XM_047424380.1:c.466-3638del XM_047424380.1:c.466-3638dup XM_047424380.1:c.466-3639_466-3638dup
FGGY transcript variant X3 XM_047424381.1:c.466-3651= XM_047424381.1:c.466-3640_466-3638del XM_047424381.1:c.466-3639_466-3638del XM_047424381.1:c.466-3638del XM_047424381.1:c.466-3638dup XM_047424381.1:c.466-3639_466-3638dup
FGGY transcript variant X5 XM_047424382.1:c.466-3651= XM_047424382.1:c.466-3640_466-3638del XM_047424382.1:c.466-3639_466-3638del XM_047424382.1:c.466-3638del XM_047424382.1:c.466-3638dup XM_047424382.1:c.466-3639_466-3638dup
FGGY transcript variant X7 XM_047424383.1:c.466-3651= XM_047424383.1:c.466-3640_466-3638del XM_047424383.1:c.466-3639_466-3638del XM_047424383.1:c.466-3638del XM_047424383.1:c.466-3638dup XM_047424383.1:c.466-3639_466-3638dup
FGGY transcript variant X8 XM_047424384.1:c.466-3651= XM_047424384.1:c.466-3640_466-3638del XM_047424384.1:c.466-3639_466-3638del XM_047424384.1:c.466-3638del XM_047424384.1:c.466-3638dup XM_047424384.1:c.466-3639_466-3638dup
FGGY transcript variant X10 XM_047424385.1:c.466-3651= XM_047424385.1:c.466-3640_466-3638del XM_047424385.1:c.466-3639_466-3638del XM_047424385.1:c.466-3638del XM_047424385.1:c.466-3638dup XM_047424385.1:c.466-3639_466-3638dup
FGGY transcript variant X12 XM_047424386.1:c.466-3651= XM_047424386.1:c.466-3640_466-3638del XM_047424386.1:c.466-3639_466-3638del XM_047424386.1:c.466-3638del XM_047424386.1:c.466-3638dup XM_047424386.1:c.466-3639_466-3638dup
FGGY transcript variant X14 XM_047424387.1:c.466-3651= XM_047424387.1:c.466-3640_466-3638del XM_047424387.1:c.466-3639_466-3638del XM_047424387.1:c.466-3638del XM_047424387.1:c.466-3638dup XM_047424387.1:c.466-3639_466-3638dup
FGGY transcript variant X15 XM_047424388.1:c.466-3651= XM_047424388.1:c.466-3640_466-3638del XM_047424388.1:c.466-3639_466-3638del XM_047424388.1:c.466-3638del XM_047424388.1:c.466-3638dup XM_047424388.1:c.466-3639_466-3638dup
FGGY transcript variant X16 XM_047424389.1:c.298-3651= XM_047424389.1:c.298-3640_298-3638del XM_047424389.1:c.298-3639_298-3638del XM_047424389.1:c.298-3638del XM_047424389.1:c.298-3638dup XM_047424389.1:c.298-3639_298-3638dup
FGGY transcript variant X21 XM_047424390.1:c.202-3651= XM_047424390.1:c.202-3640_202-3638del XM_047424390.1:c.202-3639_202-3638del XM_047424390.1:c.202-3638del XM_047424390.1:c.202-3638dup XM_047424390.1:c.202-3639_202-3638dup
FGGY transcript variant X22 XM_047424391.1:c.202-3651= XM_047424391.1:c.202-3640_202-3638del XM_047424391.1:c.202-3639_202-3638del XM_047424391.1:c.202-3638del XM_047424391.1:c.202-3638dup XM_047424391.1:c.202-3639_202-3638dup
FGGY transcript variant X24 XM_047424392.1:c.130-3651= XM_047424392.1:c.130-3640_130-3638del XM_047424392.1:c.130-3639_130-3638del XM_047424392.1:c.130-3638del XM_047424392.1:c.130-3638dup XM_047424392.1:c.130-3639_130-3638dup
FGGY transcript variant X26 XM_047424393.1:c.130-3651= XM_047424393.1:c.130-3640_130-3638del XM_047424393.1:c.130-3639_130-3638del XM_047424393.1:c.130-3638del XM_047424393.1:c.130-3638dup XM_047424393.1:c.130-3639_130-3638dup
FGGY transcript variant X27 XM_047424394.1:c.64-3651= XM_047424394.1:c.64-3640_64-3638del XM_047424394.1:c.64-3639_64-3638del XM_047424394.1:c.64-3638del XM_047424394.1:c.64-3638dup XM_047424394.1:c.64-3639_64-3638dup
FGGY transcript variant X29 XM_047424395.1:c.64-3651= XM_047424395.1:c.64-3640_64-3638del XM_047424395.1:c.64-3639_64-3638del XM_047424395.1:c.64-3638del XM_047424395.1:c.64-3638dup XM_047424395.1:c.64-3639_64-3638dup
FGGY transcript variant X30 XM_047424396.1:c.64-3651= XM_047424396.1:c.64-3640_64-3638del XM_047424396.1:c.64-3639_64-3638del XM_047424396.1:c.64-3638del XM_047424396.1:c.64-3638dup XM_047424396.1:c.64-3639_64-3638dup
FGGY transcript variant X34 XM_047424397.1:c.64-3651= XM_047424397.1:c.64-3640_64-3638del XM_047424397.1:c.64-3639_64-3638del XM_047424397.1:c.64-3638del XM_047424397.1:c.64-3638dup XM_047424397.1:c.64-3639_64-3638dup
FGGY transcript variant X35 XM_047424398.1:c.64-3651= XM_047424398.1:c.64-3640_64-3638del XM_047424398.1:c.64-3639_64-3638del XM_047424398.1:c.64-3638del XM_047424398.1:c.64-3638dup XM_047424398.1:c.64-3639_64-3638dup
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#.

34 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss39681137 Mar 15, 2006 (126)
2 HGSV ss82139885 Dec 14, 2007 (130)
3 1000GENOMES ss1367712170 Aug 21, 2014 (142)
4 EVA_GENOME_DK ss1573943964 Apr 01, 2015 (144)
5 HAMMER_LAB ss1794418337 Sep 08, 2015 (146)
6 SWEGEN ss2986867511 Nov 08, 2017 (151)
7 URBANLAB ss3646669668 Oct 11, 2018 (152)
8 EVA_DECODE ss3686834112 Jul 12, 2019 (153)
9 EVA_DECODE ss3686834113 Jul 12, 2019 (153)
10 EVA_DECODE ss3686834114 Jul 12, 2019 (153)
11 ACPOP ss3727074853 Jul 12, 2019 (153)
12 ACPOP ss3727074854 Jul 12, 2019 (153)
13 PACBIO ss3783417801 Jul 12, 2019 (153)
14 KHV_HUMAN_GENOMES ss3799252874 Jul 12, 2019 (153)
15 EVA ss3826188533 Apr 25, 2020 (154)
16 KOGIC ss3944573958 Apr 25, 2020 (154)
17 KOGIC ss3944573959 Apr 25, 2020 (154)
18 GNOMAD ss3994191997 Apr 27, 2021 (155)
19 GNOMAD ss3994191998 Apr 27, 2021 (155)
20 GNOMAD ss3994191999 Apr 27, 2021 (155)
21 GNOMAD ss3994192000 Apr 27, 2021 (155)
22 GNOMAD ss3994192001 Apr 27, 2021 (155)
23 TOMMO_GENOMICS ss5144088561 Apr 27, 2021 (155)
24 TOMMO_GENOMICS ss5144088562 Apr 27, 2021 (155)
25 TOMMO_GENOMICS ss5144088563 Apr 27, 2021 (155)
26 1000G_HIGH_COVERAGE ss5242378371 Oct 17, 2022 (156)
27 1000G_HIGH_COVERAGE ss5242378372 Oct 17, 2022 (156)
28 1000G_HIGH_COVERAGE ss5242378373 Oct 17, 2022 (156)
29 HUGCELL_USP ss5443428858 Oct 17, 2022 (156)
30 HUGCELL_USP ss5443428859 Oct 17, 2022 (156)
31 HUGCELL_USP ss5443428860 Oct 17, 2022 (156)
32 TOMMO_GENOMICS ss5668900150 Oct 17, 2022 (156)
33 TOMMO_GENOMICS ss5668900151 Oct 17, 2022 (156)
34 TOMMO_GENOMICS ss5668900152 Oct 17, 2022 (156)
35 1000Genomes NC_000001.10 - 59840770 Oct 11, 2018 (152)
36 The Danish reference pan genome NC_000001.10 - 59840770 Apr 25, 2020 (154)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12285426 (NC_000001.11:59375097::A 1574/126796)
Row 12285427 (NC_000001.11:59375097::AA 6/126848)
Row 12285428 (NC_000001.11:59375097:A: 23013/126650)...

- Apr 27, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12285426 (NC_000001.11:59375097::A 1574/126796)
Row 12285427 (NC_000001.11:59375097::AA 6/126848)
Row 12285428 (NC_000001.11:59375097:A: 23013/126650)...

- Apr 27, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12285426 (NC_000001.11:59375097::A 1574/126796)
Row 12285427 (NC_000001.11:59375097::AA 6/126848)
Row 12285428 (NC_000001.11:59375097:A: 23013/126650)...

- Apr 27, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12285426 (NC_000001.11:59375097::A 1574/126796)
Row 12285427 (NC_000001.11:59375097::AA 6/126848)
Row 12285428 (NC_000001.11:59375097:A: 23013/126650)...

- Apr 27, 2021 (155)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 12285426 (NC_000001.11:59375097::A 1574/126796)
Row 12285427 (NC_000001.11:59375097::AA 6/126848)
Row 12285428 (NC_000001.11:59375097:A: 23013/126650)...

- Apr 27, 2021 (155)
42 Korean Genome Project

Submission ignored due to conflicting rows:
Row 951959 (NC_000001.11:59375097:A: 394/1824)
Row 951960 (NC_000001.11:59375098::A 62/1824)

- Apr 25, 2020 (154)
43 Korean Genome Project

Submission ignored due to conflicting rows:
Row 951959 (NC_000001.11:59375097:A: 394/1824)
Row 951960 (NC_000001.11:59375098::A 62/1824)

- Apr 25, 2020 (154)
44 Northern Sweden

Submission ignored due to conflicting rows:
Row 359718 (NC_000001.10:59840769::A 12/600)
Row 359719 (NC_000001.10:59840769:A: 105/600)

- Jul 12, 2019 (153)
45 Northern Sweden

Submission ignored due to conflicting rows:
Row 359718 (NC_000001.10:59840769::A 12/600)
Row 359719 (NC_000001.10:59840769:A: 105/600)

- Jul 12, 2019 (153)
46 8.3KJPN

Submission ignored due to conflicting rows:
Row 2057868 (NC_000001.10:59840769:A: 3073/16758)
Row 2057869 (NC_000001.10:59840769::A 81/16758)
Row 2057870 (NC_000001.10:59840769:AA: 2/16758)

- Apr 27, 2021 (155)
47 8.3KJPN

Submission ignored due to conflicting rows:
Row 2057868 (NC_000001.10:59840769:A: 3073/16758)
Row 2057869 (NC_000001.10:59840769::A 81/16758)
Row 2057870 (NC_000001.10:59840769:AA: 2/16758)

- Apr 27, 2021 (155)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 2057868 (NC_000001.10:59840769:A: 3073/16758)
Row 2057869 (NC_000001.10:59840769::A 81/16758)
Row 2057870 (NC_000001.10:59840769:AA: 2/16758)

- Apr 27, 2021 (155)
49 14KJPN

Submission ignored due to conflicting rows:
Row 2737254 (NC_000001.11:59375097:A: 4538/28040)
Row 2737255 (NC_000001.11:59375097::A 117/28040)
Row 2737256 (NC_000001.11:59375097:AA: 6/28040)

- Oct 17, 2022 (156)
50 14KJPN

Submission ignored due to conflicting rows:
Row 2737254 (NC_000001.11:59375097:A: 4538/28040)
Row 2737255 (NC_000001.11:59375097::A 117/28040)
Row 2737256 (NC_000001.11:59375097:AA: 6/28040)

- Oct 17, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 2737254 (NC_000001.11:59375097:A: 4538/28040)
Row 2737255 (NC_000001.11:59375097::A 117/28040)
Row 2737256 (NC_000001.11:59375097:AA: 6/28040)

- Oct 17, 2022 (156)
52 ALFA NC_000001.11 - 59375098 Apr 27, 2021 (155)
Help

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

Associated ID History Updated (Build)
rs11343449 May 11, 2012 (137)
rs57509374 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3994192001 NC_000001.11:59375097:AAA: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
2922462861 NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss1794418337, ss5144088563 NC_000001.10:59840769:AA: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3686834114, ss3994192000, ss5242378372, ss5443428859, ss5668900152 NC_000001.11:59375097:AA: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2922462861 NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss82139885 NC_000001.8:59552803:A: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
1742055, 143729, ss1367712170, ss1573943964, ss2986867511, ss3727074854, ss3783417801, ss3826188533, ss5144088561 NC_000001.10:59840769:A: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3646669668, ss3799252874, ss3944573958, ss3994191999, ss5242378371, ss5443428858, ss5668900150 NC_000001.11:59375097:A: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2922462861 NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3686834113 NC_000001.11:59375098:A: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss39681137 NT_032977.9:29812700:A: NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3727074853, ss5144088562 NC_000001.10:59840769::A NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3994191997, ss5242378373, ss5443428860, ss5668900151 NC_000001.11:59375097::A NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2922462861 NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3944573959 NC_000001.11:59375098::A NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3686834112 NC_000001.11:59375099::A NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3994191998 NC_000001.11:59375097::AA NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2922462861 NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:59375097:AAAAAAAAAAAA…

NC_000001.11:59375097:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(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 rs11290884

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