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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.

rs58584750

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:46109071-46109088 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)6 / del(A)5 / del(A)4 / delA…

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

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.01579 (193/12222, ALFA)
delAA=0.2416 (1210/5008, 1000G)
delAA=0.0882 (340/3854, ALSPAC) (+ 2 more)
delAA=0.0984 (365/3708, TWINSUK)
delAA=0.030 (16/532, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HAUS1 : 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 12222 AAAAAAAAAAAAAAAAAA=0.97693 AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.01579, AAAAAAAAAAAAAAAAAAA=0.00712, AAAAAAAAAAAAAAAAAAAA=0.00016, AAAAAAAAAAAAAAAAA=0.00000 0.969646 0.001334 0.029019 16
European Sub 10370 AAAAAAAAAAAAAAAAAA=0.97290 AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.01851, AAAAAAAAAAAAAAAAAAA=0.00839, AAAAAAAAAAAAAAAAAAAA=0.00019, AAAAAAAAAAAAAAAAA=0.00000 0.964307 0.001578 0.034116 13
African Sub 964 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 26 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 938 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 46 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 26 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 20 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 90 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 356 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 82 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 314 AAAAAAAAAAAAAAAAAA=0.997 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000 0.99359 0.0 0.00641 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 12222 (A)18=0.97693 del(A)6=0.00000, del(A)4=0.00000, delAAA=0.00000, delAA=0.01579, delA=0.00000, dupA=0.00712, dupAA=0.00016
Allele Frequency Aggregator European Sub 10370 (A)18=0.97290 del(A)6=0.00000, del(A)4=0.00000, delAAA=0.00000, delAA=0.01851, delA=0.00000, dupA=0.00839, dupAA=0.00019
Allele Frequency Aggregator African Sub 964 (A)18=1.000 del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 356 (A)18=1.000 del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 314 (A)18=0.997 del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.003, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 90 (A)18=1.00 del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 82 (A)18=1.00 del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Asian Sub 46 (A)18=1.00 del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
1000Genomes Global Study-wide 5008 (A)18=0.7584 delAA=0.2416
1000Genomes African Sub 1322 (A)18=0.6029 delAA=0.3971
1000Genomes East Asian Sub 1008 (A)18=0.5982 delAA=0.4018
1000Genomes Europe Sub 1006 (A)18=0.8956 delAA=0.1044
1000Genomes South Asian Sub 978 (A)18=0.943 delAA=0.057
1000Genomes American Sub 694 (A)18=0.829 delAA=0.171
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (A)18=0.9118 delAA=0.0882
UK 10K study - Twins TWIN COHORT Study-wide 3708 (A)18=0.9016 delAA=0.0984
Northern Sweden ACPOP Study-wide 532 (A)18=0.970 delAA=0.030
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 18 NC_000018.10:g.46109083_46109088del
GRCh38.p14 chr 18 NC_000018.10:g.46109084_46109088del
GRCh38.p14 chr 18 NC_000018.10:g.46109085_46109088del
GRCh38.p14 chr 18 NC_000018.10:g.46109086_46109088del
GRCh38.p14 chr 18 NC_000018.10:g.46109087_46109088del
GRCh38.p14 chr 18 NC_000018.10:g.46109088del
GRCh38.p14 chr 18 NC_000018.10:g.46109088dup
GRCh38.p14 chr 18 NC_000018.10:g.46109087_46109088dup
GRCh37.p13 chr 18 NC_000018.9:g.43689049_43689054del
GRCh37.p13 chr 18 NC_000018.9:g.43689050_43689054del
GRCh37.p13 chr 18 NC_000018.9:g.43689051_43689054del
GRCh37.p13 chr 18 NC_000018.9:g.43689052_43689054del
GRCh37.p13 chr 18 NC_000018.9:g.43689053_43689054del
GRCh37.p13 chr 18 NC_000018.9:g.43689054del
GRCh37.p13 chr 18 NC_000018.9:g.43689054dup
GRCh37.p13 chr 18 NC_000018.9:g.43689053_43689054dup
ATP5F1A RefSeqGene NG_041769.2:g.5158_5163del
ATP5F1A RefSeqGene NG_041769.2:g.5159_5163del
ATP5F1A RefSeqGene NG_041769.2:g.5160_5163del
ATP5F1A RefSeqGene NG_041769.2:g.5161_5163del
ATP5F1A RefSeqGene NG_041769.2:g.5162_5163del
ATP5F1A RefSeqGene NG_041769.2:g.5163del
ATP5F1A RefSeqGene NG_041769.2:g.5163dup
ATP5F1A RefSeqGene NG_041769.2:g.5162_5163dup
Gene: HAUS1, HAUS augmin like complex subunit 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HAUS1 transcript variant 1 NM_138443.4:c.205+3715_20…

NM_138443.4:c.205+3715_205+3720del

N/A Intron Variant
HAUS1 transcript variant 2 NR_026978.2: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)18= del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA
GRCh38.p14 chr 18 NC_000018.10:g.46109071_46109088= NC_000018.10:g.46109083_46109088del NC_000018.10:g.46109084_46109088del NC_000018.10:g.46109085_46109088del NC_000018.10:g.46109086_46109088del NC_000018.10:g.46109087_46109088del NC_000018.10:g.46109088del NC_000018.10:g.46109088dup NC_000018.10:g.46109087_46109088dup
GRCh37.p13 chr 18 NC_000018.9:g.43689037_43689054= NC_000018.9:g.43689049_43689054del NC_000018.9:g.43689050_43689054del NC_000018.9:g.43689051_43689054del NC_000018.9:g.43689052_43689054del NC_000018.9:g.43689053_43689054del NC_000018.9:g.43689054del NC_000018.9:g.43689054dup NC_000018.9:g.43689053_43689054dup
ATP5F1A RefSeqGene NG_041769.2:g.5146_5163= NG_041769.2:g.5158_5163del NG_041769.2:g.5159_5163del NG_041769.2:g.5160_5163del NG_041769.2:g.5161_5163del NG_041769.2:g.5162_5163del NG_041769.2:g.5163del NG_041769.2:g.5163dup NG_041769.2:g.5162_5163dup
HAUS1 transcript variant 1 NM_138443.3:c.205+3703= NM_138443.3:c.205+3715_205+3720del NM_138443.3:c.205+3716_205+3720del NM_138443.3:c.205+3717_205+3720del NM_138443.3:c.205+3718_205+3720del NM_138443.3:c.205+3719_205+3720del NM_138443.3:c.205+3720del NM_138443.3:c.205+3720dup NM_138443.3:c.205+3719_205+3720dup
HAUS1 transcript variant 1 NM_138443.4:c.205+3703= NM_138443.4:c.205+3715_205+3720del NM_138443.4:c.205+3716_205+3720del NM_138443.4:c.205+3717_205+3720del NM_138443.4:c.205+3718_205+3720del NM_138443.4:c.205+3719_205+3720del NM_138443.4:c.205+3720del NM_138443.4:c.205+3720dup NM_138443.4:c.205+3719_205+3720dup
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#.

52 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81599140 Dec 15, 2007 (129)
2 HGSV ss81612440 Dec 15, 2007 (129)
3 HUMANGENOME_JCVI ss95710889 Feb 05, 2009 (130)
4 GMI ss289359315 May 04, 2012 (137)
5 PJP ss294939156 May 09, 2011 (134)
6 SSMP ss664400738 Apr 01, 2015 (144)
7 1000GENOMES ss1377442744 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1708984692 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1708985323 Apr 01, 2015 (144)
10 SWEGEN ss3016506512 Nov 08, 2017 (151)
11 MCHAISSO ss3063892494 Nov 08, 2017 (151)
12 MCHAISSO ss3065682253 Nov 08, 2017 (151)
13 MCHAISSO ss3065682254 Nov 08, 2017 (151)
14 URBANLAB ss3650786976 Oct 12, 2018 (152)
15 EVA_DECODE ss3701633226 Jul 13, 2019 (153)
16 EVA_DECODE ss3701633227 Jul 13, 2019 (153)
17 EVA_DECODE ss3701633228 Jul 13, 2019 (153)
18 EVA_DECODE ss3701633229 Jul 13, 2019 (153)
19 EVA_DECODE ss3701633230 Jul 13, 2019 (153)
20 EVA_DECODE ss3701633231 Jul 13, 2019 (153)
21 ACPOP ss3742531334 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3820634888 Jul 13, 2019 (153)
23 EVA ss3835162367 Apr 27, 2020 (154)
24 KOGIC ss3980125524 Apr 27, 2020 (154)
25 KOGIC ss3980125525 Apr 27, 2020 (154)
26 KOGIC ss3980125526 Apr 27, 2020 (154)
27 KOGIC ss3980125527 Apr 27, 2020 (154)
28 GNOMAD ss4321827086 Apr 26, 2021 (155)
29 GNOMAD ss4321827087 Apr 26, 2021 (155)
30 GNOMAD ss4321827089 Apr 26, 2021 (155)
31 GNOMAD ss4321827090 Apr 26, 2021 (155)
32 GNOMAD ss4321827091 Apr 26, 2021 (155)
33 GNOMAD ss4321827092 Apr 26, 2021 (155)
34 GNOMAD ss4321827093 Apr 26, 2021 (155)
35 GNOMAD ss4321827094 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5225113635 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5225113636 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5225113637 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5225113638 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5305250499 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5305250501 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5305250502 Oct 16, 2022 (156)
43 HUGCELL_USP ss5498025603 Oct 16, 2022 (156)
44 HUGCELL_USP ss5498025605 Oct 16, 2022 (156)
45 HUGCELL_USP ss5498025606 Oct 16, 2022 (156)
46 HUGCELL_USP ss5498025607 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5782888749 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5782888750 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5782888751 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5782888752 Oct 16, 2022 (156)
51 EVA ss5852046883 Oct 16, 2022 (156)
52 EVA ss5952684365 Oct 16, 2022 (156)
53 1000Genomes NC_000018.9 - 43689037 Oct 12, 2018 (152)
54 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 43689037 Oct 12, 2018 (152)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 524201888 (NC_000018.10:46109070::A 2297/76534)
Row 524201889 (NC_000018.10:46109070::AA 6/76736)
Row 524201891 (NC_000018.10:46109070:A: 1342/76734)...

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

Submission ignored due to conflicting rows:
Row 36503525 (NC_000018.10:46109073::A 65/1810)
Row 36503526 (NC_000018.10:46109071:AA: 706/1810)
Row 36503527 (NC_000018.10:46109072:A: 140/1810)...

- Apr 27, 2020 (154)
64 Korean Genome Project

Submission ignored due to conflicting rows:
Row 36503525 (NC_000018.10:46109073::A 65/1810)
Row 36503526 (NC_000018.10:46109071:AA: 706/1810)
Row 36503527 (NC_000018.10:46109072:A: 140/1810)...

- Apr 27, 2020 (154)
65 Korean Genome Project

Submission ignored due to conflicting rows:
Row 36503525 (NC_000018.10:46109073::A 65/1810)
Row 36503526 (NC_000018.10:46109071:AA: 706/1810)
Row 36503527 (NC_000018.10:46109072:A: 140/1810)...

- Apr 27, 2020 (154)
66 Korean Genome Project

Submission ignored due to conflicting rows:
Row 36503525 (NC_000018.10:46109073::A 65/1810)
Row 36503526 (NC_000018.10:46109071:AA: 706/1810)
Row 36503527 (NC_000018.10:46109072:A: 140/1810)...

- Apr 27, 2020 (154)
67 Northern Sweden NC_000018.9 - 43689037 Jul 13, 2019 (153)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 83082942 (NC_000018.9:43689036:AA: 7464/16708)
Row 83082943 (NC_000018.9:43689036:A: 94/16708)
Row 83082944 (NC_000018.9:43689036::A 15/16708)...

- Apr 26, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 83082942 (NC_000018.9:43689036:AA: 7464/16708)
Row 83082943 (NC_000018.9:43689036:A: 94/16708)
Row 83082944 (NC_000018.9:43689036::A 15/16708)...

- Apr 26, 2021 (155)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 83082942 (NC_000018.9:43689036:AA: 7464/16708)
Row 83082943 (NC_000018.9:43689036:A: 94/16708)
Row 83082944 (NC_000018.9:43689036::A 15/16708)...

- Apr 26, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 83082942 (NC_000018.9:43689036:AA: 7464/16708)
Row 83082943 (NC_000018.9:43689036:A: 94/16708)
Row 83082944 (NC_000018.9:43689036::A 15/16708)...

- Apr 26, 2021 (155)
72 14KJPN

Submission ignored due to conflicting rows:
Row 116725853 (NC_000018.10:46109070:AA: 12881/28246)
Row 116725854 (NC_000018.10:46109070:A: 145/28246)
Row 116725855 (NC_000018.10:46109070::A 15/28246)...

- Oct 16, 2022 (156)
73 14KJPN

Submission ignored due to conflicting rows:
Row 116725853 (NC_000018.10:46109070:AA: 12881/28246)
Row 116725854 (NC_000018.10:46109070:A: 145/28246)
Row 116725855 (NC_000018.10:46109070::A 15/28246)...

- Oct 16, 2022 (156)
74 14KJPN

Submission ignored due to conflicting rows:
Row 116725853 (NC_000018.10:46109070:AA: 12881/28246)
Row 116725854 (NC_000018.10:46109070:A: 145/28246)
Row 116725855 (NC_000018.10:46109070::A 15/28246)...

- Oct 16, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 116725853 (NC_000018.10:46109070:AA: 12881/28246)
Row 116725854 (NC_000018.10:46109070:A: 145/28246)
Row 116725855 (NC_000018.10:46109070::A 15/28246)...

- Oct 16, 2022 (156)
76 UK 10K study - Twins NC_000018.9 - 43689037 Oct 12, 2018 (152)
77 ALFA NC_000018.10 - 46109071 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)
rs995946070 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4321827094 NC_000018.10:46109070:AAAAAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3701633231, ss4321827093 NC_000018.10:46109070:AAAAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4321827092 NC_000018.10:46109070:AAAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3701633230 NC_000018.10:46109071:AAAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss289359315 NC_000018.8:41943034:AAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5225113638 NC_000018.9:43689036:AAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3980125527, ss4321827091, ss5498025607, ss5782888752 NC_000018.10:46109070:AAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3701633229 NC_000018.10:46109072:AAA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss81599140, ss81612440, ss294939156 NC_000018.8:41943050:AA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
74303926, 41166178, 15816199, 41166178, ss664400738, ss1377442744, ss1708984692, ss1708985323, ss3016506512, ss3742531334, ss3835162367, ss5225113635, ss5952684365 NC_000018.9:43689036:AA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3063892494, ss3065682253, ss3065682254, ss3650786976, ss3820634888, ss4321827090, ss5305250499, ss5498025603, ss5782888749, ss5852046883 NC_000018.10:46109070:AA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3980125525 NC_000018.10:46109071:AA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3701633228 NC_000018.10:46109073:AA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss95710889 NT_010966.14:25178154:AA: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5225113636 NC_000018.9:43689036:A: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4321827089, ss5305250502, ss5498025606, ss5782888750 NC_000018.10:46109070:A: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3980125526 NC_000018.10:46109072:A: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3701633227 NC_000018.10:46109074:A: NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5225113637 NC_000018.9:43689036::A NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4321827086, ss5305250501, ss5498025605, ss5782888751 NC_000018.10:46109070::A NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3980125524 NC_000018.10:46109073::A NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3701633226 NC_000018.10:46109075::A NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4321827087 NC_000018.10:46109070::AA NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2177528466 NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000018.10:46109070:AAAAAAAAAAAA…

NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(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 rs58584750

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