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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.

rs11290546

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:39505905-39505919 (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 / dupAAA

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.05019 (518/10320, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UGDH : 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 10320 AAAAAAAAAAAAAAA=0.90581 AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.05019, AAAAAAAAAAAAAAAA=0.02955, AAAAAAAAAAAAAAAAA=0.01444, AAAAAAAAAAAAAAAAAA=0.00000 0.908342 0.006547 0.085111 20
European Sub 9020 AAAAAAAAAAAAAAA=0.8927 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0573, AAAAAAAAAAAAAAAA=0.0336, AAAAAAAAAAAAAAAAA=0.0164, AAAAAAAAAAAAAAAAAA=0.0000 0.894054 0.007585 0.098361 15
African Sub 752 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 30 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 722 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 12 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 10 AAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 56 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 208 AAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 54 AAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 218 AAAAAAAAAAAAAAA=0.982 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.005, AAAAAAAAAAAAAAAA=0.009, AAAAAAAAAAAAAAAAA=0.005, AAAAAAAAAAAAAAAAAA=0.000 0.990654 0.0 0.009346 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
Allele Frequency Aggregator Total Global 10320 (A)15=0.90581 delAAA=0.00000, delAA=0.00000, delA=0.05019, dupA=0.02955, dupAA=0.01444, dupAAA=0.00000
Allele Frequency Aggregator European Sub 9020 (A)15=0.8927 delAAA=0.0000, delAA=0.0000, delA=0.0573, dupA=0.0336, dupAA=0.0164, dupAAA=0.0000
Allele Frequency Aggregator African Sub 752 (A)15=1.000 delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 218 (A)15=0.982 delAAA=0.000, delAA=0.000, delA=0.005, dupA=0.009, dupAA=0.005, dupAAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 208 (A)15=1.000 delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 56 (A)15=1.00 delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 54 (A)15=1.00 delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 12 (A)15=1.00 delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 4 NC_000004.12:g.39505917_39505919del
GRCh38.p14 chr 4 NC_000004.12:g.39505918_39505919del
GRCh38.p14 chr 4 NC_000004.12:g.39505919del
GRCh38.p14 chr 4 NC_000004.12:g.39505919dup
GRCh38.p14 chr 4 NC_000004.12:g.39505918_39505919dup
GRCh38.p14 chr 4 NC_000004.12:g.39505917_39505919dup
GRCh37.p13 chr 4 NC_000004.11:g.39507537_39507539del
GRCh37.p13 chr 4 NC_000004.11:g.39507538_39507539del
GRCh37.p13 chr 4 NC_000004.11:g.39507539del
GRCh37.p13 chr 4 NC_000004.11:g.39507539dup
GRCh37.p13 chr 4 NC_000004.11:g.39507538_39507539dup
GRCh37.p13 chr 4 NC_000004.11:g.39507537_39507539dup
Gene: UGDH, UDP-glucose 6-dehydrogenase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UGDH transcript variant 2 NM_001184700.2:c.706-159_…

NM_001184700.2:c.706-159_706-157del

N/A Intron Variant
UGDH transcript variant 3 NM_001184701.2:c.616-159_…

NM_001184701.2:c.616-159_616-157del

N/A Intron Variant
UGDH transcript variant 1 NM_003359.4:c.907-159_907…

NM_003359.4:c.907-159_907-157del

N/A Intron Variant
UGDH transcript variant X1 XM_005262667.4:c.946-159_…

XM_005262667.4:c.946-159_946-157del

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)15= delAAA delAA delA dupA dupAA dupAAA
GRCh38.p14 chr 4 NC_000004.12:g.39505905_39505919= NC_000004.12:g.39505917_39505919del NC_000004.12:g.39505918_39505919del NC_000004.12:g.39505919del NC_000004.12:g.39505919dup NC_000004.12:g.39505918_39505919dup NC_000004.12:g.39505917_39505919dup
GRCh37.p13 chr 4 NC_000004.11:g.39507525_39507539= NC_000004.11:g.39507537_39507539del NC_000004.11:g.39507538_39507539del NC_000004.11:g.39507539del NC_000004.11:g.39507539dup NC_000004.11:g.39507538_39507539dup NC_000004.11:g.39507537_39507539dup
UGDH transcript variant 2 NM_001184700.1:c.706-157= NM_001184700.1:c.706-159_706-157del NM_001184700.1:c.706-158_706-157del NM_001184700.1:c.706-157del NM_001184700.1:c.706-157dup NM_001184700.1:c.706-158_706-157dup NM_001184700.1:c.706-159_706-157dup
UGDH transcript variant 2 NM_001184700.2:c.706-157= NM_001184700.2:c.706-159_706-157del NM_001184700.2:c.706-158_706-157del NM_001184700.2:c.706-157del NM_001184700.2:c.706-157dup NM_001184700.2:c.706-158_706-157dup NM_001184700.2:c.706-159_706-157dup
UGDH transcript variant 3 NM_001184701.1:c.616-157= NM_001184701.1:c.616-159_616-157del NM_001184701.1:c.616-158_616-157del NM_001184701.1:c.616-157del NM_001184701.1:c.616-157dup NM_001184701.1:c.616-158_616-157dup NM_001184701.1:c.616-159_616-157dup
UGDH transcript variant 3 NM_001184701.2:c.616-157= NM_001184701.2:c.616-159_616-157del NM_001184701.2:c.616-158_616-157del NM_001184701.2:c.616-157del NM_001184701.2:c.616-157dup NM_001184701.2:c.616-158_616-157dup NM_001184701.2:c.616-159_616-157dup
UGDH transcript variant 1 NM_003359.3:c.907-157= NM_003359.3:c.907-159_907-157del NM_003359.3:c.907-158_907-157del NM_003359.3:c.907-157del NM_003359.3:c.907-157dup NM_003359.3:c.907-158_907-157dup NM_003359.3:c.907-159_907-157dup
UGDH transcript variant 1 NM_003359.4:c.907-157= NM_003359.4:c.907-159_907-157del NM_003359.4:c.907-158_907-157del NM_003359.4:c.907-157del NM_003359.4:c.907-157dup NM_003359.4:c.907-158_907-157dup NM_003359.4:c.907-159_907-157dup
UGDH transcript variant X1 XM_005262667.1:c.946-157= XM_005262667.1:c.946-159_946-157del XM_005262667.1:c.946-158_946-157del XM_005262667.1:c.946-157del XM_005262667.1:c.946-157dup XM_005262667.1:c.946-158_946-157dup XM_005262667.1:c.946-159_946-157dup
UGDH transcript variant X1 XM_005262667.4:c.946-157= XM_005262667.4:c.946-159_946-157del XM_005262667.4:c.946-158_946-157del XM_005262667.4:c.946-157del XM_005262667.4:c.946-157dup XM_005262667.4:c.946-158_946-157dup XM_005262667.4:c.946-159_946-157dup
UGDH transcript variant X2 XM_005262668.1:c.907-157= XM_005262668.1:c.907-159_907-157del XM_005262668.1:c.907-158_907-157del XM_005262668.1:c.907-157del XM_005262668.1:c.907-157dup XM_005262668.1:c.907-158_907-157dup XM_005262668.1:c.907-159_907-157dup
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#.

51 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 DEVINE_LAB ss15165761 Mar 15, 2016 (147)
2 BCMHGSC_JDW ss103687498 Mar 15, 2016 (147)
3 GMI ss288510456 May 04, 2012 (137)
4 GMI ss288510458 Sep 14, 2016 (149)
5 SSMP ss663507903 Apr 01, 2015 (144)
6 BILGI_BIOE ss666253640 Apr 25, 2013 (138)
7 TMC_SNPDB ss1997168348 Jul 19, 2016 (147)
8 SWEGEN ss2994491602 Nov 08, 2017 (151)
9 MCHAISSO ss3064963362 Nov 08, 2017 (151)
10 URBANLAB ss3647702010 Oct 12, 2018 (152)
11 EVA_DECODE ss3711839903 Jul 13, 2019 (153)
12 EVA_DECODE ss3711839904 Jul 13, 2019 (153)
13 EVA_DECODE ss3711839905 Jul 13, 2019 (153)
14 EVA_DECODE ss3711839906 Jul 13, 2019 (153)
15 ACPOP ss3731055820 Jul 13, 2019 (153)
16 ACPOP ss3731055821 Jul 13, 2019 (153)
17 ACPOP ss3731055822 Jul 13, 2019 (153)
18 EVA ss3828485745 Apr 26, 2020 (154)
19 EVA ss3837679311 Apr 26, 2020 (154)
20 EVA ss3843114355 Apr 26, 2020 (154)
21 KOGIC ss3953926996 Apr 26, 2020 (154)
22 KOGIC ss3953926997 Apr 26, 2020 (154)
23 KOGIC ss3953926998 Apr 26, 2020 (154)
24 KOGIC ss3953926999 Apr 26, 2020 (154)
25 FSA-LAB ss3984281653 Apr 26, 2021 (155)
26 GNOMAD ss4094262658 Apr 26, 2021 (155)
27 GNOMAD ss4094262659 Apr 26, 2021 (155)
28 GNOMAD ss4094262660 Apr 26, 2021 (155)
29 GNOMAD ss4094262662 Apr 26, 2021 (155)
30 GNOMAD ss4094262663 Apr 26, 2021 (155)
31 GNOMAD ss4094262664 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5165162311 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5165162312 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5165162313 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5165162314 Apr 26, 2021 (155)
36 1000G_HIGH_COVERAGE ss5258807180 Oct 13, 2022 (156)
37 1000G_HIGH_COVERAGE ss5258807181 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5258807182 Oct 13, 2022 (156)
39 1000G_HIGH_COVERAGE ss5258807183 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5258807184 Oct 13, 2022 (156)
41 HUGCELL_USP ss5457632664 Oct 13, 2022 (156)
42 HUGCELL_USP ss5457632665 Oct 13, 2022 (156)
43 HUGCELL_USP ss5457632666 Oct 13, 2022 (156)
44 HUGCELL_USP ss5457632667 Oct 13, 2022 (156)
45 EVA ss5624138541 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5699073226 Oct 13, 2022 (156)
47 TOMMO_GENOMICS ss5699073227 Oct 13, 2022 (156)
48 TOMMO_GENOMICS ss5699073228 Oct 13, 2022 (156)
49 TOMMO_GENOMICS ss5699073229 Oct 13, 2022 (156)
50 EVA ss5843849000 Oct 13, 2022 (156)
51 EVA ss5863023033 Oct 13, 2022 (156)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 146428280 (NC_000004.12:39505904::A 20364/132740)
Row 146428281 (NC_000004.12:39505904::AA 8957/132756)
Row 146428282 (NC_000004.12:39505904::AAA 227/132836)...

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

Submission ignored due to conflicting rows:
Row 146428280 (NC_000004.12:39505904::A 20364/132740)
Row 146428281 (NC_000004.12:39505904::AA 8957/132756)
Row 146428282 (NC_000004.12:39505904::AAA 227/132836)...

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

Submission ignored due to conflicting rows:
Row 146428280 (NC_000004.12:39505904::A 20364/132740)
Row 146428281 (NC_000004.12:39505904::AA 8957/132756)
Row 146428282 (NC_000004.12:39505904::AAA 227/132836)...

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

Submission ignored due to conflicting rows:
Row 146428280 (NC_000004.12:39505904::A 20364/132740)
Row 146428281 (NC_000004.12:39505904::AA 8957/132756)
Row 146428282 (NC_000004.12:39505904::AAA 227/132836)...

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

Submission ignored due to conflicting rows:
Row 146428280 (NC_000004.12:39505904::A 20364/132740)
Row 146428281 (NC_000004.12:39505904::AA 8957/132756)
Row 146428282 (NC_000004.12:39505904::AAA 227/132836)...

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

Submission ignored due to conflicting rows:
Row 146428280 (NC_000004.12:39505904::A 20364/132740)
Row 146428281 (NC_000004.12:39505904::AA 8957/132756)
Row 146428282 (NC_000004.12:39505904::AAA 227/132836)...

- Apr 26, 2021 (155)
58 Korean Genome Project

Submission ignored due to conflicting rows:
Row 10304997 (NC_000004.12:39505906::A 467/1830)
Row 10304998 (NC_000004.12:39505906::AA 230/1830)
Row 10304999 (NC_000004.12:39505904:AA: 15/1830)...

- Apr 26, 2020 (154)
59 Korean Genome Project

Submission ignored due to conflicting rows:
Row 10304997 (NC_000004.12:39505906::A 467/1830)
Row 10304998 (NC_000004.12:39505906::AA 230/1830)
Row 10304999 (NC_000004.12:39505904:AA: 15/1830)...

- Apr 26, 2020 (154)
60 Korean Genome Project

Submission ignored due to conflicting rows:
Row 10304997 (NC_000004.12:39505906::A 467/1830)
Row 10304998 (NC_000004.12:39505906::AA 230/1830)
Row 10304999 (NC_000004.12:39505904:AA: 15/1830)...

- Apr 26, 2020 (154)
61 Korean Genome Project

Submission ignored due to conflicting rows:
Row 10304997 (NC_000004.12:39505906::A 467/1830)
Row 10304998 (NC_000004.12:39505906::AA 230/1830)
Row 10304999 (NC_000004.12:39505904:AA: 15/1830)...

- Apr 26, 2020 (154)
62 Northern Sweden

Submission ignored due to conflicting rows:
Row 4340685 (NC_000004.11:39507524::AA 25/598)
Row 4340686 (NC_000004.11:39507524:A: 90/598)
Row 4340687 (NC_000004.11:39507524::A 28/598)

- Jul 13, 2019 (153)
63 Northern Sweden

Submission ignored due to conflicting rows:
Row 4340685 (NC_000004.11:39507524::AA 25/598)
Row 4340686 (NC_000004.11:39507524:A: 90/598)
Row 4340687 (NC_000004.11:39507524::A 28/598)

- Jul 13, 2019 (153)
64 Northern Sweden

Submission ignored due to conflicting rows:
Row 4340685 (NC_000004.11:39507524::AA 25/598)
Row 4340686 (NC_000004.11:39507524:A: 90/598)
Row 4340687 (NC_000004.11:39507524::A 28/598)

- Jul 13, 2019 (153)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 23131618 (NC_000004.11:39507524:A: 4196/16756)
Row 23131619 (NC_000004.11:39507524::A 4173/16756)
Row 23131620 (NC_000004.11:39507524::AA 3097/16756)...

- Apr 26, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 23131618 (NC_000004.11:39507524:A: 4196/16756)
Row 23131619 (NC_000004.11:39507524::A 4173/16756)
Row 23131620 (NC_000004.11:39507524::AA 3097/16756)...

- Apr 26, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 23131618 (NC_000004.11:39507524:A: 4196/16756)
Row 23131619 (NC_000004.11:39507524::A 4173/16756)
Row 23131620 (NC_000004.11:39507524::AA 3097/16756)...

- Apr 26, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 23131618 (NC_000004.11:39507524:A: 4196/16756)
Row 23131619 (NC_000004.11:39507524::A 4173/16756)
Row 23131620 (NC_000004.11:39507524::AA 3097/16756)...

- Apr 26, 2021 (155)
69 14KJPN

Submission ignored due to conflicting rows:
Row 32910330 (NC_000004.12:39505904:A: 7081/28258)
Row 32910331 (NC_000004.12:39505904::AA 5202/28258)
Row 32910332 (NC_000004.12:39505904::A 7056/28258)...

- Oct 13, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 32910330 (NC_000004.12:39505904:A: 7081/28258)
Row 32910331 (NC_000004.12:39505904::AA 5202/28258)
Row 32910332 (NC_000004.12:39505904::A 7056/28258)...

- Oct 13, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 32910330 (NC_000004.12:39505904:A: 7081/28258)
Row 32910331 (NC_000004.12:39505904::AA 5202/28258)
Row 32910332 (NC_000004.12:39505904::A 7056/28258)...

- Oct 13, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 32910330 (NC_000004.12:39505904:A: 7081/28258)
Row 32910331 (NC_000004.12:39505904::AA 5202/28258)
Row 32910332 (NC_000004.12:39505904::A 7056/28258)...

- Oct 13, 2022 (156)
73 ALFA NC_000004.12 - 39505905 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)
rs202224781 Apr 25, 2013 (138)
rs34368094 May 23, 2006 (127)
rs74272802 Jul 30, 2012 (137)
rs200222253 May 11, 2012 (137)
rs373772215 May 13, 2013 (138)
rs869254941 Jul 19, 2016 (147)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4094262664 NC_000004.12:39505904:AAA: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
719335234 NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss103687498 NT_016297.16:6666898:AAA: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3984281653 NC_000004.11:39507524:AA: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3711839906, ss3953926998, ss4094262663, ss5258807184 NC_000004.12:39505904:AA: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
719335234 NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss288510456 NC_000004.10:39183919:A: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss666253640, ss2994491602, ss3731055821, ss5165162311, ss5624138541 NC_000004.11:39507524:A: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3064963362, ss3647702010, ss4094262662, ss5258807180, ss5457632664, ss5699073226 NC_000004.12:39505904:A: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
719335234 NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3711839905, ss3953926999 NC_000004.12:39505905:A: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss15165761 NT_016297.16:6666886:A: NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss288510458 NC_000004.10:39183934::A NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3731055822, ss3828485745, ss5165162312 NC_000004.11:39507524::A NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1997168348 NC_000004.11:39507525::A NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4094262658, ss5258807183, ss5457632666, ss5699073228 NC_000004.12:39505904::A NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
719335234 NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3711839904, ss3953926996 NC_000004.12:39505906::A NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss288510458 NC_000004.10:39183934::AA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss663507903, ss3731055820, ss5165162313, ss5843849000 NC_000004.11:39507524::AA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3837679311 NC_000004.11:39507525::AA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4094262659, ss5258807181, ss5457632665, ss5699073227, ss5863023033 NC_000004.12:39505904::AA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
719335234 NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3843114355 NC_000004.12:39505905::AA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3711839903, ss3953926997 NC_000004.12:39505906::AA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5165162314 NC_000004.11:39507524::AAA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4094262660, ss5258807182, ss5457632667, ss5699073229 NC_000004.12:39505904::AAA NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
719335234 NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000004.12:39505904:AAAAAAAAAAAA…

NC_000004.12:39505904:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(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 rs11290546

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