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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.

rs11446646

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:170239399-170239410 (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
delAA / delA / dupA / dupAA / dupA…

delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / ins(A)17

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.2670 (1964/7355, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C5orf58 : 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 7355 AAAAAAAAAAAA=0.6915 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0415, AAAAAAAAAAAAAA=0.2670, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000 0.593095 0.132192 0.274712 32
European Sub 6411 AAAAAAAAAAAA=0.6470 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0476, AAAAAAAAAAAAAA=0.3054, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000 0.528625 0.152897 0.318478 32
African Sub 602 AAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 26 AAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 576 AAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 24 AAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 20 AAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 40 AAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 132 AAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 16 AAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 130 AAAAAAAAAAAA=0.954 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.046, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000 0.938462 0.030769 0.030769 15


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 7355 (A)12=0.6915 delAA=0.0000, delA=0.0000, dupA=0.0415, dupAA=0.2670, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 6411 (A)12=0.6470 delAA=0.0000, delA=0.0000, dupA=0.0476, dupAA=0.3054, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 602 (A)12=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 132 (A)12=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 130 (A)12=0.954 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.046, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 40 (A)12=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Asian Sub 24 (A)12=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 16 (A)12=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=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 5 NC_000005.10:g.170239409_170239410del
GRCh38.p14 chr 5 NC_000005.10:g.170239410del
GRCh38.p14 chr 5 NC_000005.10:g.170239410dup
GRCh38.p14 chr 5 NC_000005.10:g.170239409_170239410dup
GRCh38.p14 chr 5 NC_000005.10:g.170239408_170239410dup
GRCh38.p14 chr 5 NC_000005.10:g.170239407_170239410dup
GRCh38.p14 chr 5 NC_000005.10:g.170239410_170239411insAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 5 NC_000005.9:g.169666413_169666414del
GRCh37.p13 chr 5 NC_000005.9:g.169666414del
GRCh37.p13 chr 5 NC_000005.9:g.169666414dup
GRCh37.p13 chr 5 NC_000005.9:g.169666413_169666414dup
GRCh37.p13 chr 5 NC_000005.9:g.169666412_169666414dup
GRCh37.p13 chr 5 NC_000005.9:g.169666411_169666414dup
GRCh37.p13 chr 5 NC_000005.9:g.169666414_169666415insAAAAAAAAAAAAAAAAA
Gene: C5orf58, chromosome 5 open reading frame 58 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
C5orf58 transcript variant 1 NM_001102609.3:c.94+4339_…

NM_001102609.3:c.94+4339_94+4340del

N/A Intron Variant
C5orf58 transcript variant 2 NM_001305393.2:c.94+4339_…

NM_001305393.2:c.94+4339_94+4340del

N/A Intron Variant
C5orf58 transcript variant 3 NM_001305394.2:c.94+4339_…

NM_001305394.2:c.94+4339_94+4340del

N/A Intron Variant
C5orf58 transcript variant 7 NR_131091.3:n. N/A Intron Variant
C5orf58 transcript variant 8 NR_131092.3:n. N/A Intron Variant
C5orf58 transcript variant 4 NR_161261.1:n. N/A Intron Variant
C5orf58 transcript variant 6 NR_161262.1:n. N/A Intron Variant
C5orf58 transcript variant 5 NR_161263.1:n. N/A Intron Variant
C5orf58 transcript variant X2 XM_017009032.2:c.157+4339…

XM_017009032.2:c.157+4339_157+4340del

N/A Intron Variant
C5orf58 transcript variant X3 XM_017009033.2:c.157+4339…

XM_017009033.2:c.157+4339_157+4340del

N/A Intron Variant
C5orf58 transcript variant X1 XM_047416711.1:c.157+4339…

XM_047416711.1:c.157+4339_157+4340del

N/A Intron Variant
C5orf58 transcript variant X4 XM_047416712.1:c.94+4339_…

XM_047416712.1:c.94+4339_94+4340del

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)12= delAA delA dupA dupAA dupAAA dup(A)4 ins(A)17
GRCh38.p14 chr 5 NC_000005.10:g.170239399_170239410= NC_000005.10:g.170239409_170239410del NC_000005.10:g.170239410del NC_000005.10:g.170239410dup NC_000005.10:g.170239409_170239410dup NC_000005.10:g.170239408_170239410dup NC_000005.10:g.170239407_170239410dup NC_000005.10:g.170239410_170239411insAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 5 NC_000005.9:g.169666403_169666414= NC_000005.9:g.169666413_169666414del NC_000005.9:g.169666414del NC_000005.9:g.169666414dup NC_000005.9:g.169666413_169666414dup NC_000005.9:g.169666412_169666414dup NC_000005.9:g.169666411_169666414dup NC_000005.9:g.169666414_169666415insAAAAAAAAAAAAAAAAA
C5orf58 transcript NM_001102609.1:c.157+4329= NM_001102609.1:c.157+4339_157+4340del NM_001102609.1:c.157+4340del NM_001102609.1:c.157+4340dup NM_001102609.1:c.157+4339_157+4340dup NM_001102609.1:c.157+4338_157+4340dup NM_001102609.1:c.157+4337_157+4340dup NM_001102609.1:c.157+4340_157+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant 1 NM_001102609.3:c.94+4329= NM_001102609.3:c.94+4339_94+4340del NM_001102609.3:c.94+4340del NM_001102609.3:c.94+4340dup NM_001102609.3:c.94+4339_94+4340dup NM_001102609.3:c.94+4338_94+4340dup NM_001102609.3:c.94+4337_94+4340dup NM_001102609.3:c.94+4340_94+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant 2 NM_001305393.2:c.94+4329= NM_001305393.2:c.94+4339_94+4340del NM_001305393.2:c.94+4340del NM_001305393.2:c.94+4340dup NM_001305393.2:c.94+4339_94+4340dup NM_001305393.2:c.94+4338_94+4340dup NM_001305393.2:c.94+4337_94+4340dup NM_001305393.2:c.94+4340_94+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant 3 NM_001305394.2:c.94+4329= NM_001305394.2:c.94+4339_94+4340del NM_001305394.2:c.94+4340del NM_001305394.2:c.94+4340dup NM_001305394.2:c.94+4339_94+4340dup NM_001305394.2:c.94+4338_94+4340dup NM_001305394.2:c.94+4337_94+4340dup NM_001305394.2:c.94+4340_94+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant X1 XM_005265817.1:c.274+4329= XM_005265817.1:c.274+4339_274+4340del XM_005265817.1:c.274+4340del XM_005265817.1:c.274+4340dup XM_005265817.1:c.274+4339_274+4340dup XM_005265817.1:c.274+4338_274+4340dup XM_005265817.1:c.274+4337_274+4340dup XM_005265817.1:c.274+4340_274+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant X2 XM_017009032.2:c.157+4329= XM_017009032.2:c.157+4339_157+4340del XM_017009032.2:c.157+4340del XM_017009032.2:c.157+4340dup XM_017009032.2:c.157+4339_157+4340dup XM_017009032.2:c.157+4338_157+4340dup XM_017009032.2:c.157+4337_157+4340dup XM_017009032.2:c.157+4340_157+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant X3 XM_017009033.2:c.157+4329= XM_017009033.2:c.157+4339_157+4340del XM_017009033.2:c.157+4340del XM_017009033.2:c.157+4340dup XM_017009033.2:c.157+4339_157+4340dup XM_017009033.2:c.157+4338_157+4340dup XM_017009033.2:c.157+4337_157+4340dup XM_017009033.2:c.157+4340_157+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant X1 XM_047416711.1:c.157+4329= XM_047416711.1:c.157+4339_157+4340del XM_047416711.1:c.157+4340del XM_047416711.1:c.157+4340dup XM_047416711.1:c.157+4339_157+4340dup XM_047416711.1:c.157+4338_157+4340dup XM_047416711.1:c.157+4337_157+4340dup XM_047416711.1:c.157+4340_157+4341insAAAAAAAAAAAAAAAAA
C5orf58 transcript variant X4 XM_047416712.1:c.94+4329= XM_047416712.1:c.94+4339_94+4340del XM_047416712.1:c.94+4340del XM_047416712.1:c.94+4340dup XM_047416712.1:c.94+4339_94+4340dup XM_047416712.1:c.94+4338_94+4340dup XM_047416712.1:c.94+4337_94+4340dup XM_047416712.1:c.94+4340_94+4341insAAAAAAAAAAAAAAAAA
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#.

59 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42624385 Mar 15, 2006 (126)
2 HGSV ss82986445 Dec 14, 2007 (130)
3 HUMANGENOME_JCVI ss98685518 Feb 04, 2009 (130)
4 GMI ss287785017 Dec 03, 2013 (138)
5 GMI ss288673623 May 04, 2012 (137)
6 PJP ss295256324 May 09, 2011 (135)
7 SSMP ss663581979 Apr 01, 2015 (144)
8 BILGI_BIOE ss666336878 Apr 25, 2013 (138)
9 DDI ss1536488117 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1704971226 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1704971228 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1704971230 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1704971232 Apr 01, 2015 (144)
14 SWEGEN ss2998227913 Nov 08, 2017 (151)
15 SWEGEN ss2998227914 Nov 08, 2017 (151)
16 MCHAISSO ss3064184761 Nov 08, 2017 (151)
17 URBANLAB ss3648226464 Oct 12, 2018 (152)
18 EVA_DECODE ss3716236349 Jul 13, 2019 (153)
19 EVA_DECODE ss3716236350 Jul 13, 2019 (153)
20 EVA_DECODE ss3716236351 Jul 13, 2019 (153)
21 EVA_DECODE ss3716236352 Jul 13, 2019 (153)
22 ACPOP ss3733049614 Jul 13, 2019 (153)
23 ACPOP ss3733049615 Jul 13, 2019 (153)
24 ACPOP ss3733049616 Jul 13, 2019 (153)
25 PACBIO ss3785322431 Jul 13, 2019 (153)
26 PACBIO ss3790694179 Jul 13, 2019 (153)
27 PACBIO ss3795571302 Jul 13, 2019 (153)
28 KHV_HUMAN_GENOMES ss3807562872 Jul 13, 2019 (153)
29 EVA ss3829639352 Apr 26, 2020 (154)
30 EVA ss3838292922 Apr 26, 2020 (154)
31 EVA ss3843736803 Apr 26, 2020 (154)
32 KOGIC ss3958157422 Apr 26, 2020 (154)
33 KOGIC ss3958157423 Apr 26, 2020 (154)
34 KOGIC ss3958157424 Apr 26, 2020 (154)
35 GNOMAD ss4134119503 Apr 26, 2021 (155)
36 GNOMAD ss4134119504 Apr 26, 2021 (155)
37 GNOMAD ss4134119505 Apr 26, 2021 (155)
38 GNOMAD ss4134119506 Apr 26, 2021 (155)
39 GNOMAD ss4134119507 Apr 26, 2021 (155)
40 GNOMAD ss4134119508 Apr 26, 2021 (155)
41 GNOMAD ss4134119509 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5175372158 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5175372159 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5175372160 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5175372161 Apr 26, 2021 (155)
46 1000G_HIGH_COVERAGE ss5266794044 Oct 13, 2022 (156)
47 1000G_HIGH_COVERAGE ss5266794045 Oct 13, 2022 (156)
48 1000G_HIGH_COVERAGE ss5266794046 Oct 13, 2022 (156)
49 1000G_HIGH_COVERAGE ss5266794047 Oct 13, 2022 (156)
50 HUGCELL_USP ss5464665753 Oct 13, 2022 (156)
51 HUGCELL_USP ss5464665754 Oct 13, 2022 (156)
52 HUGCELL_USP ss5464665755 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5712803114 Oct 13, 2022 (156)
54 TOMMO_GENOMICS ss5712803115 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5712803116 Oct 13, 2022 (156)
56 TOMMO_GENOMICS ss5712803117 Oct 13, 2022 (156)
57 EVA ss5836014109 Oct 13, 2022 (156)
58 EVA ss5836014110 Oct 13, 2022 (156)
59 EVA ss5855128319 Oct 13, 2022 (156)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16713377 (NC_000005.9:169666402::AA 1787/3854)
Row 16713378 (NC_000005.9:169666402::AAA 110/3854)

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

Submission ignored due to conflicting rows:
Row 16713377 (NC_000005.9:169666402::AA 1787/3854)
Row 16713378 (NC_000005.9:169666402::AAA 110/3854)

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 212334765 (NC_000005.10:170239398::A 24372/131704)
Row 212334766 (NC_000005.10:170239398::AA 43688/131506)
Row 212334767 (NC_000005.10:170239398::AAA 260/131828)...

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

Submission ignored due to conflicting rows:
Row 14535423 (NC_000005.10:170239398::A 157/1832)
Row 14535424 (NC_000005.10:170239398::AA 570/1832)
Row 14535425 (NC_000005.10:170239398::AAA 28/1832)

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

Submission ignored due to conflicting rows:
Row 14535423 (NC_000005.10:170239398::A 157/1832)
Row 14535424 (NC_000005.10:170239398::AA 570/1832)
Row 14535425 (NC_000005.10:170239398::AAA 28/1832)

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

Submission ignored due to conflicting rows:
Row 14535423 (NC_000005.10:170239398::A 157/1832)
Row 14535424 (NC_000005.10:170239398::AA 570/1832)
Row 14535425 (NC_000005.10:170239398::AAA 28/1832)

- Apr 26, 2020 (154)
72 Northern Sweden

Submission ignored due to conflicting rows:
Row 6334479 (NC_000005.9:169666402::AA 242/594)
Row 6334480 (NC_000005.9:169666402::A 52/594)
Row 6334481 (NC_000005.9:169666402:A: 1/594)

- Jul 13, 2019 (153)
73 Northern Sweden

Submission ignored due to conflicting rows:
Row 6334479 (NC_000005.9:169666402::AA 242/594)
Row 6334480 (NC_000005.9:169666402::A 52/594)
Row 6334481 (NC_000005.9:169666402:A: 1/594)

- Jul 13, 2019 (153)
74 Northern Sweden

Submission ignored due to conflicting rows:
Row 6334479 (NC_000005.9:169666402::AA 242/594)
Row 6334480 (NC_000005.9:169666402::A 52/594)
Row 6334481 (NC_000005.9:169666402:A: 1/594)

- Jul 13, 2019 (153)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 33341465 (NC_000005.9:169666402::AA 6521/16760)
Row 33341466 (NC_000005.9:169666402:A: 3/16760)
Row 33341467 (NC_000005.9:169666402::A 712/16760)...

- Apr 26, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 33341465 (NC_000005.9:169666402::AA 6521/16760)
Row 33341466 (NC_000005.9:169666402:A: 3/16760)
Row 33341467 (NC_000005.9:169666402::A 712/16760)...

- Apr 26, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 33341465 (NC_000005.9:169666402::AA 6521/16760)
Row 33341466 (NC_000005.9:169666402:A: 3/16760)
Row 33341467 (NC_000005.9:169666402::A 712/16760)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 33341465 (NC_000005.9:169666402::AA 6521/16760)
Row 33341466 (NC_000005.9:169666402:A: 3/16760)
Row 33341467 (NC_000005.9:169666402::A 712/16760)...

- Apr 26, 2021 (155)
79 14KJPN

Submission ignored due to conflicting rows:
Row 46640218 (NC_000005.10:170239398::A 1163/28258)
Row 46640219 (NC_000005.10:170239398::AA 10923/28258)
Row 46640220 (NC_000005.10:170239398::AAA 302/28258)...

- Oct 13, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 46640218 (NC_000005.10:170239398::A 1163/28258)
Row 46640219 (NC_000005.10:170239398::AA 10923/28258)
Row 46640220 (NC_000005.10:170239398::AAA 302/28258)...

- Oct 13, 2022 (156)
81 14KJPN

Submission ignored due to conflicting rows:
Row 46640218 (NC_000005.10:170239398::A 1163/28258)
Row 46640219 (NC_000005.10:170239398::AA 10923/28258)
Row 46640220 (NC_000005.10:170239398::AAA 302/28258)...

- Oct 13, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 46640218 (NC_000005.10:170239398::A 1163/28258)
Row 46640219 (NC_000005.10:170239398::AA 10923/28258)
Row 46640220 (NC_000005.10:170239398::AAA 302/28258)...

- Oct 13, 2022 (156)
83 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16713377 (NC_000005.9:169666402::AA 1697/3708)
Row 16713378 (NC_000005.9:169666402::AAA 126/3708)

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

Submission ignored due to conflicting rows:
Row 16713377 (NC_000005.9:169666402::AA 1697/3708)
Row 16713378 (NC_000005.9:169666402::AAA 126/3708)

- Oct 12, 2018 (152)
85 ALFA NC_000005.10 - 170239399 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)
rs72268417 May 11, 2012 (137)
rs144776458 May 11, 2012 (137)
rs143518844 Oct 11, 2011 (135)
rs35450454 May 23, 2006 (127)
rs57865140 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4134119509 NC_000005.10:170239398:AA: NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAA

(self)
12941743303 NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAA

(self)
ss3733049616, ss5175372159 NC_000005.9:169666402:A: NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3716236352, ss4134119508, ss5266794047, ss5712803117 NC_000005.10:170239398:A: NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAA

(self)
12941743303 NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss288673623 NC_000005.8:169598992::A NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss2998227914, ss3733049615, ss3829639352, ss5175372160 NC_000005.9:169666402::A NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3958157422, ss4134119503, ss5266794045, ss5464665754, ss5712803114 NC_000005.10:170239398::A NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
12941743303 NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3716236351 NC_000005.10:170239399::A NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss82986445 NT_023133.13:14477687::A NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss295256324 NC_000005.8:169598991::AA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss663581979, ss666336878, ss1536488117, ss1704971226, ss1704971230, ss2998227913, ss3733049614, ss3785322431, ss3790694179, ss3795571302, ss3838292922, ss5175372158, ss5836014109 NC_000005.9:169666402::AA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3064184761, ss3648226464, ss3807562872, ss3843736803, ss3958157423, ss4134119504, ss5266794044, ss5464665753, ss5712803115, ss5855128319 NC_000005.10:170239398::AA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
12941743303 NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3716236350 NC_000005.10:170239399::AA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss42624385, ss98685518, ss287785017 NT_023133.13:14477687::AA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1704971228, ss1704971232, ss5175372161, ss5836014110 NC_000005.9:169666402::AAA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3958157424, ss4134119505, ss5266794046, ss5464665755, ss5712803116 NC_000005.10:170239398::AAA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
12941743303 NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3716236349 NC_000005.10:170239399::AAA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4134119506 NC_000005.10:170239398::AAAA NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
12941743303 NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4134119507 NC_000005.10:170239398::AAAAAAAAAA…

NC_000005.10:170239398::AAAAAAAAAAAAAAAAA

NC_000005.10:170239398:AAAAAAAAAAA…

NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs11446646

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