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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.

rs55858449

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:195842117-195842135 (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)7 / del(A)4 / delAAA / delAA…

del(A)7 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)6

Variation Type
Indel Insertion and Deletion
Frequency
del(A)7=0.000004 (1/264690, TOPMED)
del(A)7=0.0000 (0/5480, ALFA)
delAAA=0.0000 (0/5480, ALFA) (+ 8 more)
delAA=0.0000 (0/5480, ALFA)
delA=0.0000 (0/5480, ALFA)
dupA=0.0000 (0/5480, ALFA)
dupAA=0.0000 (0/5480, ALFA)
dup(A)4=0.0000 (0/5480, ALFA)
dup(A)6=0.0000 (0/5480, ALFA)
delA=0.3357 (1681/5008, 1000G)
delA=0.183 (88/482, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC01983 : Intron Variant
LOC107984010 : 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 5480 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 4046 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 586 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 32 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 554 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 86 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 70 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 64 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 424 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 58 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 216 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 (A)19=0.999996 del(A)7=0.000004
Allele Frequency Aggregator Total Global 5480 (A)19=1.0000 del(A)7=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator European Sub 4046 (A)19=1.0000 del(A)7=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator African Sub 586 (A)19=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)6=0.000
Allele Frequency Aggregator Latin American 2 Sub 424 (A)19=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)6=0.000
Allele Frequency Aggregator Other Sub 216 (A)19=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)6=0.000
Allele Frequency Aggregator Asian Sub 86 (A)19=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, dup(A)6=0.00
Allele Frequency Aggregator Latin American 1 Sub 64 (A)19=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, dup(A)6=0.00
Allele Frequency Aggregator South Asian Sub 58 (A)19=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, dup(A)6=0.00
1000Genomes Global Study-wide 5008 (A)19=0.6643 delA=0.3357
1000Genomes African Sub 1322 (A)19=0.4501 delA=0.5499
1000Genomes East Asian Sub 1008 (A)19=0.8770 delA=0.1230
1000Genomes Europe Sub 1006 (A)19=0.6670 delA=0.3330
1000Genomes South Asian Sub 978 (A)19=0.689 delA=0.311
1000Genomes American Sub 694 (A)19=0.725 delA=0.275
Northern Sweden ACPOP Study-wide 482 (A)19=0.817 delA=0.183
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 3 NC_000003.12:g.195842129_195842135del
GRCh38.p14 chr 3 NC_000003.12:g.195842132_195842135del
GRCh38.p14 chr 3 NC_000003.12:g.195842133_195842135del
GRCh38.p14 chr 3 NC_000003.12:g.195842134_195842135del
GRCh38.p14 chr 3 NC_000003.12:g.195842135del
GRCh38.p14 chr 3 NC_000003.12:g.195842135dup
GRCh38.p14 chr 3 NC_000003.12:g.195842134_195842135dup
GRCh38.p14 chr 3 NC_000003.12:g.195842133_195842135dup
GRCh38.p14 chr 3 NC_000003.12:g.195842132_195842135dup
GRCh38.p14 chr 3 NC_000003.12:g.195842130_195842135dup
GRCh37.p13 chr 3 NC_000003.11:g.195569000_195569006del
GRCh37.p13 chr 3 NC_000003.11:g.195569003_195569006del
GRCh37.p13 chr 3 NC_000003.11:g.195569004_195569006del
GRCh37.p13 chr 3 NC_000003.11:g.195569005_195569006del
GRCh37.p13 chr 3 NC_000003.11:g.195569006del
GRCh37.p13 chr 3 NC_000003.11:g.195569006dup
GRCh37.p13 chr 3 NC_000003.11:g.195569005_195569006dup
GRCh37.p13 chr 3 NC_000003.11:g.195569004_195569006dup
GRCh37.p13 chr 3 NC_000003.11:g.195569003_195569006dup
GRCh37.p13 chr 3 NC_000003.11:g.195569001_195569006dup
Gene: LINC01983, long intergenic non-protein coding RNA 1983 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC01983 transcript variant 1 NR_134939.1:n. N/A Intron Variant
LINC01983 transcript variant 2 NR_134940.1:n. N/A Intron Variant
Gene: LOC107984010, uncharacterized LOC107984010 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107984010 transcript XR_924880.3: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)19= del(A)7 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)6
GRCh38.p14 chr 3 NC_000003.12:g.195842117_195842135= NC_000003.12:g.195842129_195842135del NC_000003.12:g.195842132_195842135del NC_000003.12:g.195842133_195842135del NC_000003.12:g.195842134_195842135del NC_000003.12:g.195842135del NC_000003.12:g.195842135dup NC_000003.12:g.195842134_195842135dup NC_000003.12:g.195842133_195842135dup NC_000003.12:g.195842132_195842135dup NC_000003.12:g.195842130_195842135dup
GRCh37.p13 chr 3 NC_000003.11:g.195568988_195569006= NC_000003.11:g.195569000_195569006del NC_000003.11:g.195569003_195569006del NC_000003.11:g.195569004_195569006del NC_000003.11:g.195569005_195569006del NC_000003.11:g.195569006del NC_000003.11:g.195569006dup NC_000003.11:g.195569005_195569006dup NC_000003.11:g.195569004_195569006dup NC_000003.11:g.195569003_195569006dup NC_000003.11:g.195569001_195569006dup
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#.

37 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss78005571 Dec 06, 2007 (129)
2 HGSV ss80415331 Dec 15, 2007 (130)
3 HGSV ss82922052 Dec 15, 2007 (130)
4 HGSV ss82965154 Dec 15, 2007 (130)
5 GMI ss288471320 May 04, 2012 (137)
6 PJP ss295148202 May 09, 2011 (137)
7 PJP ss295148203 May 09, 2011 (134)
8 1000GENOMES ss1371566080 Aug 21, 2014 (142)
9 MCHAISSO ss3065927598 Nov 08, 2017 (151)
10 EVA_DECODE ss3711171549 Jul 13, 2019 (153)
11 EVA_DECODE ss3711171550 Jul 13, 2019 (153)
12 EVA_DECODE ss3711171551 Jul 13, 2019 (153)
13 EVA_DECODE ss3711171552 Jul 13, 2019 (153)
14 EVA_DECODE ss3711171553 Jul 13, 2019 (153)
15 ACPOP ss3730748822 Jul 13, 2019 (153)
16 KHV_HUMAN_GENOMES ss3804386526 Jul 13, 2019 (153)
17 EVA ss3828310929 Apr 25, 2020 (154)
18 GNOMAD ss4088675337 Apr 26, 2021 (155)
19 GNOMAD ss4088675338 Apr 26, 2021 (155)
20 GNOMAD ss4088675339 Apr 26, 2021 (155)
21 GNOMAD ss4088675340 Apr 26, 2021 (155)
22 GNOMAD ss4088675341 Apr 26, 2021 (155)
23 GNOMAD ss4088675342 Apr 26, 2021 (155)
24 GNOMAD ss4088675343 Apr 26, 2021 (155)
25 TOPMED ss4599168145 Apr 26, 2021 (155)
26 TOMMO_GENOMICS ss5163640636 Apr 26, 2021 (155)
27 TOMMO_GENOMICS ss5163640637 Apr 26, 2021 (155)
28 TOMMO_GENOMICS ss5163640638 Apr 26, 2021 (155)
29 1000G_HIGH_COVERAGE ss5257617751 Oct 17, 2022 (156)
30 1000G_HIGH_COVERAGE ss5257617753 Oct 17, 2022 (156)
31 1000G_HIGH_COVERAGE ss5257617754 Oct 17, 2022 (156)
32 HUGCELL_USP ss5456598507 Oct 17, 2022 (156)
33 HUGCELL_USP ss5456598508 Oct 17, 2022 (156)
34 HUGCELL_USP ss5456598510 Oct 17, 2022 (156)
35 TOMMO_GENOMICS ss5697122904 Oct 17, 2022 (156)
36 TOMMO_GENOMICS ss5697122905 Oct 17, 2022 (156)
37 TOMMO_GENOMICS ss5697122907 Oct 17, 2022 (156)
38 1000Genomes NC_000003.11 - 195568988 Oct 12, 2018 (152)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

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

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

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

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

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

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

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

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

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

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

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

Submission ignored due to conflicting rows:
Row 136973017 (NC_000003.12:195842116::A 447/89430)
Row 136973018 (NC_000003.12:195842116::AA 8/89542)
Row 136973019 (NC_000003.12:195842116::AAA 1/89558)...

- Apr 26, 2021 (155)
46 Northern Sweden NC_000003.11 - 195568988 Jul 13, 2019 (153)
47 8.3KJPN

Submission ignored due to conflicting rows:
Row 21609943 (NC_000003.11:195568987:A: 1592/16720)
Row 21609944 (NC_000003.11:195568987::A 18/16720)
Row 21609945 (NC_000003.11:195568987:AA: 3/16720)

- Apr 26, 2021 (155)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 21609943 (NC_000003.11:195568987:A: 1592/16720)
Row 21609944 (NC_000003.11:195568987::A 18/16720)
Row 21609945 (NC_000003.11:195568987:AA: 3/16720)

- Apr 26, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 21609943 (NC_000003.11:195568987:A: 1592/16720)
Row 21609944 (NC_000003.11:195568987::A 18/16720)
Row 21609945 (NC_000003.11:195568987:AA: 3/16720)

- Apr 26, 2021 (155)
50 14KJPN

Submission ignored due to conflicting rows:
Row 30960008 (NC_000003.12:195842116:A: 2738/28254)
Row 30960009 (NC_000003.12:195842116::A 15/28254)
Row 30960011 (NC_000003.12:195842116:AA: 3/28254)

- Oct 17, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 30960008 (NC_000003.12:195842116:A: 2738/28254)
Row 30960009 (NC_000003.12:195842116::A 15/28254)
Row 30960011 (NC_000003.12:195842116:AA: 3/28254)

- Oct 17, 2022 (156)
52 14KJPN

Submission ignored due to conflicting rows:
Row 30960008 (NC_000003.12:195842116:A: 2738/28254)
Row 30960009 (NC_000003.12:195842116::A 15/28254)
Row 30960011 (NC_000003.12:195842116:AA: 3/28254)

- Oct 17, 2022 (156)
53 TopMed NC_000003.12 - 195842117 Apr 26, 2021 (155)
54 ALFA NC_000003.12 - 195842117 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)
rs59142701 May 25, 2008 (130)
rs67614409 May 11, 2012 (137)
rs67614410 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
436545700, ss4599168145 NC_000003.12:195842116:AAAAAAA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3711171553, ss4088675343 NC_000003.12:195842116:AAAA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4088675342 NC_000003.12:195842116:AAA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3711171552 NC_000003.12:195842117:AAA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5163640638 NC_000003.11:195568987:AA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4088675341, ss5257617754, ss5456598510, ss5697122907 NC_000003.12:195842116:AA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3711171551 NC_000003.12:195842118:AA: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss78005571, ss80415331, ss82922052, ss82965154 NC_000003.9:197057315:A: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss288471320, ss295148202 NC_000003.10:197053384:A: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss295148203 NC_000003.10:197053402:A: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
19293656, 4033687, ss1371566080, ss3730748822, ss3828310929, ss5163640636 NC_000003.11:195568987:A: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3065927598, ss3804386526, ss4088675340, ss5257617751, ss5456598508, ss5697122904 NC_000003.12:195842116:A: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3711171550 NC_000003.12:195842119:A: NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5163640637 NC_000003.11:195568987::A NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4088675337, ss5257617753, ss5456598507, ss5697122905 NC_000003.12:195842116::A NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3711171549 NC_000003.12:195842120::A NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4088675338 NC_000003.12:195842116::AA NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4088675339 NC_000003.12:195842116::AAA NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
14138379568 NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:195842116:AAAAAAAAAAA…

NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs55858449

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