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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.

rs59482970

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:151241827-151241843 (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)8 / del(A)6 / del(A)5 / del(…

del(A)8 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)10

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.0000 (0/2016, ALFA)
del(A)6=0.0000 (0/2016, ALFA)
del(A)4=0.0000 (0/2016, ALFA) (+ 8 more)
delAAA=0.0000 (0/2016, ALFA)
delAA=0.0000 (0/2016, ALFA)
delA=0.0000 (0/2016, ALFA)
dupA=0.0000 (0/2016, ALFA)
dupAA=0.0000 (0/2016, ALFA)
dupAAA=0.0000 (0/2016, ALFA)
dup(A)4=0.0000 (0/2016, ALFA)
dup(A)5=0.0000 (0/2016, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKAP12 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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 2016 (A)17=1.0000 del(A)8=0.0000, del(A)6=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000
Allele Frequency Aggregator European Sub 980 (A)17=1.000 del(A)8=0.000, 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, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000
Allele Frequency Aggregator African Sub 860 (A)17=1.000 del(A)8=0.000, 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, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000
Allele Frequency Aggregator Other Sub 98 (A)17=1.00 del(A)8=0.00, 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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
Allele Frequency Aggregator Latin American 1 Sub 28 (A)17=1.00 del(A)8=0.00, 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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
Allele Frequency Aggregator Latin American 2 Sub 24 (A)17=1.00 del(A)8=0.00, 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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
Allele Frequency Aggregator South Asian Sub 18 (A)17=1.00 del(A)8=0.00, 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, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
Allele Frequency Aggregator Asian Sub 8 (A)17=1.0 del(A)8=0.0, del(A)6=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)5=0.0
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.151241836_151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241838_151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241839_151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241840_151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241841_151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241842_151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241843del
GRCh38.p14 chr 6 NC_000006.12:g.151241843dup
GRCh38.p14 chr 6 NC_000006.12:g.151241842_151241843dup
GRCh38.p14 chr 6 NC_000006.12:g.151241841_151241843dup
GRCh38.p14 chr 6 NC_000006.12:g.151241840_151241843dup
GRCh38.p14 chr 6 NC_000006.12:g.151241839_151241843dup
GRCh38.p14 chr 6 NC_000006.12:g.151241834_151241843dup
GRCh37.p13 chr 6 NC_000006.11:g.151562971_151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562973_151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562974_151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562975_151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562976_151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562977_151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562978del
GRCh37.p13 chr 6 NC_000006.11:g.151562978dup
GRCh37.p13 chr 6 NC_000006.11:g.151562977_151562978dup
GRCh37.p13 chr 6 NC_000006.11:g.151562976_151562978dup
GRCh37.p13 chr 6 NC_000006.11:g.151562975_151562978dup
GRCh37.p13 chr 6 NC_000006.11:g.151562974_151562978dup
GRCh37.p13 chr 6 NC_000006.11:g.151562969_151562978dup
AKAP12 RefSeqGene NG_029875.1:g.6838_6845del
AKAP12 RefSeqGene NG_029875.1:g.6840_6845del
AKAP12 RefSeqGene NG_029875.1:g.6841_6845del
AKAP12 RefSeqGene NG_029875.1:g.6842_6845del
AKAP12 RefSeqGene NG_029875.1:g.6843_6845del
AKAP12 RefSeqGene NG_029875.1:g.6844_6845del
AKAP12 RefSeqGene NG_029875.1:g.6845del
AKAP12 RefSeqGene NG_029875.1:g.6845dup
AKAP12 RefSeqGene NG_029875.1:g.6844_6845dup
AKAP12 RefSeqGene NG_029875.1:g.6843_6845dup
AKAP12 RefSeqGene NG_029875.1:g.6842_6845dup
AKAP12 RefSeqGene NG_029875.1:g.6841_6845dup
AKAP12 RefSeqGene NG_029875.1:g.6836_6845dup
Gene: AKAP12, A-kinase anchoring protein 12 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AKAP12 transcript variant 1 NM_005100.4:c.162+1112_16…

NM_005100.4:c.162+1112_162+1119del

N/A Intron Variant
AKAP12 transcript variant 3 NM_001370346.1:c. N/A Genic Upstream Transcript Variant
AKAP12 transcript variant 2 NM_144497.2:c. N/A Genic Upstream Transcript Variant
AKAP12 transcript variant X1 XM_017011517.3:c.162+1112…

XM_017011517.3:c.162+1112_162+1119del

N/A Intron Variant
AKAP12 transcript variant X2 XM_047419579.1:c. N/A Genic Upstream Transcript 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)17= del(A)8 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)10
GRCh38.p14 chr 6 NC_000006.12:g.151241827_151241843= NC_000006.12:g.151241836_151241843del NC_000006.12:g.151241838_151241843del NC_000006.12:g.151241839_151241843del NC_000006.12:g.151241840_151241843del NC_000006.12:g.151241841_151241843del NC_000006.12:g.151241842_151241843del NC_000006.12:g.151241843del NC_000006.12:g.151241843dup NC_000006.12:g.151241842_151241843dup NC_000006.12:g.151241841_151241843dup NC_000006.12:g.151241840_151241843dup NC_000006.12:g.151241839_151241843dup NC_000006.12:g.151241834_151241843dup
GRCh37.p13 chr 6 NC_000006.11:g.151562962_151562978= NC_000006.11:g.151562971_151562978del NC_000006.11:g.151562973_151562978del NC_000006.11:g.151562974_151562978del NC_000006.11:g.151562975_151562978del NC_000006.11:g.151562976_151562978del NC_000006.11:g.151562977_151562978del NC_000006.11:g.151562978del NC_000006.11:g.151562978dup NC_000006.11:g.151562977_151562978dup NC_000006.11:g.151562976_151562978dup NC_000006.11:g.151562975_151562978dup NC_000006.11:g.151562974_151562978dup NC_000006.11:g.151562969_151562978dup
AKAP12 RefSeqGene NG_029875.1:g.6829_6845= NG_029875.1:g.6838_6845del NG_029875.1:g.6840_6845del NG_029875.1:g.6841_6845del NG_029875.1:g.6842_6845del NG_029875.1:g.6843_6845del NG_029875.1:g.6844_6845del NG_029875.1:g.6845del NG_029875.1:g.6845dup NG_029875.1:g.6844_6845dup NG_029875.1:g.6843_6845dup NG_029875.1:g.6842_6845dup NG_029875.1:g.6841_6845dup NG_029875.1:g.6836_6845dup
AKAP12 transcript variant 1 NM_005100.3:c.162+1103= NM_005100.3:c.162+1112_162+1119del NM_005100.3:c.162+1114_162+1119del NM_005100.3:c.162+1115_162+1119del NM_005100.3:c.162+1116_162+1119del NM_005100.3:c.162+1117_162+1119del NM_005100.3:c.162+1118_162+1119del NM_005100.3:c.162+1119del NM_005100.3:c.162+1119dup NM_005100.3:c.162+1118_162+1119dup NM_005100.3:c.162+1117_162+1119dup NM_005100.3:c.162+1116_162+1119dup NM_005100.3:c.162+1115_162+1119dup NM_005100.3:c.162+1110_162+1119dup
AKAP12 transcript variant 1 NM_005100.4:c.162+1103= NM_005100.4:c.162+1112_162+1119del NM_005100.4:c.162+1114_162+1119del NM_005100.4:c.162+1115_162+1119del NM_005100.4:c.162+1116_162+1119del NM_005100.4:c.162+1117_162+1119del NM_005100.4:c.162+1118_162+1119del NM_005100.4:c.162+1119del NM_005100.4:c.162+1119dup NM_005100.4:c.162+1118_162+1119dup NM_005100.4:c.162+1117_162+1119dup NM_005100.4:c.162+1116_162+1119dup NM_005100.4:c.162+1115_162+1119dup NM_005100.4:c.162+1110_162+1119dup
AKAP12 transcript variant X1 XM_005267233.1:c.162+1103= XM_005267233.1:c.162+1112_162+1119del XM_005267233.1:c.162+1114_162+1119del XM_005267233.1:c.162+1115_162+1119del XM_005267233.1:c.162+1116_162+1119del XM_005267233.1:c.162+1117_162+1119del XM_005267233.1:c.162+1118_162+1119del XM_005267233.1:c.162+1119del XM_005267233.1:c.162+1119dup XM_005267233.1:c.162+1118_162+1119dup XM_005267233.1:c.162+1117_162+1119dup XM_005267233.1:c.162+1116_162+1119dup XM_005267233.1:c.162+1115_162+1119dup XM_005267233.1:c.162+1110_162+1119dup
AKAP12 transcript variant X1 XM_017011517.3:c.162+1103= XM_017011517.3:c.162+1112_162+1119del XM_017011517.3:c.162+1114_162+1119del XM_017011517.3:c.162+1115_162+1119del XM_017011517.3:c.162+1116_162+1119del XM_017011517.3:c.162+1117_162+1119del XM_017011517.3:c.162+1118_162+1119del XM_017011517.3:c.162+1119del XM_017011517.3:c.162+1119dup XM_017011517.3:c.162+1118_162+1119dup XM_017011517.3:c.162+1117_162+1119dup XM_017011517.3:c.162+1116_162+1119dup XM_017011517.3:c.162+1115_162+1119dup XM_017011517.3:c.162+1110_162+1119dup
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#.

57 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81782106 Aug 21, 2014 (142)
2 HUMANGENOME_JCVI ss95445735 Apr 25, 2013 (138)
3 BCMHGSC_JDW ss103741419 Dec 01, 2009 (136)
4 GMI ss288809395 May 31, 2013 (142)
5 PJP ss295313914 Jan 10, 2018 (151)
6 PJP ss295313915 May 31, 2013 (142)
7 SSMP ss663664867 Apr 01, 2015 (144)
8 BILGI_BIOE ss666379020 Apr 25, 2013 (138)
9 EVA_UK10K_ALSPAC ss1705423987 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1705424088 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710300884 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710300897 Apr 01, 2015 (144)
13 SWEGEN ss3000189030 Jan 10, 2018 (151)
14 URBANLAB ss3648499989 Oct 12, 2018 (152)
15 EVA_DECODE ss3718574308 Jul 13, 2019 (153)
16 EVA_DECODE ss3718574309 Jul 13, 2019 (153)
17 EVA_DECODE ss3718574310 Jul 13, 2019 (153)
18 EVA_DECODE ss3718574311 Jul 13, 2019 (153)
19 EVA_DECODE ss3718574312 Jul 13, 2019 (153)
20 EVA_DECODE ss3718574313 Jul 13, 2019 (153)
21 PACBIO ss3785659434 Jul 13, 2019 (153)
22 PACBIO ss3790980365 Jul 13, 2019 (153)
23 PACBIO ss3795859750 Jul 13, 2019 (153)
24 EVA ss3830266985 Apr 26, 2020 (154)
25 GNOMAD ss4154050548 Apr 26, 2021 (155)
26 GNOMAD ss4154050549 Apr 26, 2021 (155)
27 GNOMAD ss4154050550 Apr 26, 2021 (155)
28 GNOMAD ss4154050551 Apr 26, 2021 (155)
29 GNOMAD ss4154050552 Apr 26, 2021 (155)
30 GNOMAD ss4154050554 Apr 26, 2021 (155)
31 GNOMAD ss4154050555 Apr 26, 2021 (155)
32 GNOMAD ss4154050556 Apr 26, 2021 (155)
33 GNOMAD ss4154050557 Apr 26, 2021 (155)
34 GNOMAD ss4154050558 Apr 26, 2021 (155)
35 GNOMAD ss4154050559 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5180605848 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5180605849 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5180605850 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5180605851 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5180605852 Apr 26, 2021 (155)
41 1000G_HIGH_COVERAGE ss5270883043 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5270883044 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5270883045 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5270883046 Oct 13, 2022 (156)
45 1000G_HIGH_COVERAGE ss5270883047 Oct 13, 2022 (156)
46 HUGCELL_USP ss5468278301 Oct 13, 2022 (156)
47 HUGCELL_USP ss5468278302 Oct 13, 2022 (156)
48 HUGCELL_USP ss5468278303 Oct 13, 2022 (156)
49 HUGCELL_USP ss5468278304 Oct 13, 2022 (156)
50 HUGCELL_USP ss5468278305 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5719680856 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5719680857 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5719680858 Oct 13, 2022 (156)
54 TOMMO_GENOMICS ss5719680859 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5719680860 Oct 13, 2022 (156)
56 EVA ss5843196413 Oct 13, 2022 (156)
57 EVA ss5843196414 Oct 13, 2022 (156)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 19387897 (NC_000006.11:151562961:AA: 835/3854)
Row 19387898 (NC_000006.11:151562961::AA 1129/3854)

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

Submission ignored due to conflicting rows:
Row 19387897 (NC_000006.11:151562961:AA: 835/3854)
Row 19387898 (NC_000006.11:151562961::AA 1129/3854)

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

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

Submission ignored due to conflicting rows:
Row 245515835 (NC_000006.12:151241826::A 44338/113376)
Row 245515836 (NC_000006.12:151241826::AA 1028/113594)
Row 245515837 (NC_000006.12:151241826::AAA 4/113700)...

- Apr 26, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 38575155 (NC_000006.11:151562961:AA: 8429/16708)
Row 38575156 (NC_000006.11:151562961::A 2630/16708)
Row 38575157 (NC_000006.11:151562961:A: 135/16708)...

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 38575155 (NC_000006.11:151562961:AA: 8429/16708)
Row 38575156 (NC_000006.11:151562961::A 2630/16708)
Row 38575157 (NC_000006.11:151562961:A: 135/16708)...

- Apr 26, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 38575155 (NC_000006.11:151562961:AA: 8429/16708)
Row 38575156 (NC_000006.11:151562961::A 2630/16708)
Row 38575157 (NC_000006.11:151562961:A: 135/16708)...

- Apr 26, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 38575155 (NC_000006.11:151562961:AA: 8429/16708)
Row 38575156 (NC_000006.11:151562961::A 2630/16708)
Row 38575157 (NC_000006.11:151562961:A: 135/16708)...

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 38575155 (NC_000006.11:151562961:AA: 8429/16708)
Row 38575156 (NC_000006.11:151562961::A 2630/16708)
Row 38575157 (NC_000006.11:151562961:A: 135/16708)...

- Apr 26, 2021 (155)
76 14KJPN

Submission ignored due to conflicting rows:
Row 53517960 (NC_000006.12:151241826:AA: 14516/28252)
Row 53517961 (NC_000006.12:151241826::A 4796/28252)
Row 53517962 (NC_000006.12:151241826:A: 257/28252)...

- Oct 13, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 53517960 (NC_000006.12:151241826:AA: 14516/28252)
Row 53517961 (NC_000006.12:151241826::A 4796/28252)
Row 53517962 (NC_000006.12:151241826:A: 257/28252)...

- Oct 13, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 53517960 (NC_000006.12:151241826:AA: 14516/28252)
Row 53517961 (NC_000006.12:151241826::A 4796/28252)
Row 53517962 (NC_000006.12:151241826:A: 257/28252)...

- Oct 13, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 53517960 (NC_000006.12:151241826:AA: 14516/28252)
Row 53517961 (NC_000006.12:151241826::A 4796/28252)
Row 53517962 (NC_000006.12:151241826:A: 257/28252)...

- Oct 13, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 53517960 (NC_000006.12:151241826:AA: 14516/28252)
Row 53517961 (NC_000006.12:151241826::A 4796/28252)
Row 53517962 (NC_000006.12:151241826:A: 257/28252)...

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

Submission ignored due to conflicting rows:
Row 19387897 (NC_000006.11:151562961:AA: 842/3708)
Row 19387898 (NC_000006.11:151562961::AA 1054/3708)

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

Submission ignored due to conflicting rows:
Row 19387897 (NC_000006.11:151562961:AA: 842/3708)
Row 19387898 (NC_000006.11:151562961::AA 1054/3708)

- Oct 12, 2018 (152)
83 ALFA NC_000006.12 - 151241827 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)
rs148468862 Sep 17, 2011 (135)
rs386408951 Aug 21, 2014 (142)
rs77304201 Oct 15, 2011 (136)
rs377100953 May 13, 2013 (138)
rs386359496 Aug 21, 2014 (142)
rs386408950 Apr 01, 2015 (144)
rs796799948 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4154050559 NC_000006.12:151241826:AAAAAAAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4154050558 NC_000006.12:151241826:AAAAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4154050557 NC_000006.12:151241826:AAAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss103741419 NT_025741.15:55732431:AAAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5180605852 NC_000006.11:151562961:AAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3718574313, ss4154050556, ss5270883046, ss5468278304, ss5719680859 NC_000006.12:151241826:AAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss81782106 NC_000006.9:151655090:AA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss288809395 NC_000006.10:151604654:AA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss663664867, ss666379020, ss1705423987, ss1705424088, ss3000189030, ss3785659434, ss3790980365, ss3795859750, ss3830266985, ss5180605848, ss5843196413 NC_000006.11:151562961:AA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4154050555, ss5270883044, ss5468278305, ss5719680856 NC_000006.12:151241826:AA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3718574312 NC_000006.12:151241827:AA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5180605850 NC_000006.11:151562961:A: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4154050554, ss5270883045, ss5468278301, ss5719680858 NC_000006.12:151241826:A: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3718574311 NC_000006.12:151241828:A: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss295313914 NC_000006.10:151604655::A NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss295313915 NC_000006.10:151604671::A NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5180605849 NC_000006.11:151562961::A NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3648499989, ss4154050548, ss5270883043, ss5468278302, ss5719680857 NC_000006.12:151241826::A NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3718574310 NC_000006.12:151241829::A NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss95445735 NT_025741.15:55732435::A NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5180605851, ss5843196414 NC_000006.11:151562961::AA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1710300884, ss1710300897 NC_000006.11:151562963::AA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4154050549, ss5270883047, ss5468278303, ss5719680860 NC_000006.12:151241826::AA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3718574309 NC_000006.12:151241829::AA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4154050550 NC_000006.12:151241826::AAA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4154050551 NC_000006.12:151241826::AAAA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3718574308 NC_000006.12:151241829::AAAA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
4242573598 NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4154050552 NC_000006.12:151241826::AAAAAAAAAA NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3515843495 NC_000006.12:151241826:AAAAAA: NC_000006.12:151241826:AAAAAAAAAAA…

NC_000006.12:151241826:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

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 rs59482970

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