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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.

rs1029410954

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:46691723-46691740 (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(T)5 / del(T)4 / delTTT / delTT…

del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)9 / dup(T)10

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.01112 (163/14660, ALFA)
(T)18=0.05 (2/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ALS2CL : 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 14660 TTTTTTTTTTTTTTTTTT=0.98745 TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.01112, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00041, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00102 0.978802 0.001094 0.020104 30
European Sub 11118 TTTTTTTTTTTTTTTTTT=0.98345 TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.01466, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00054, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00135 0.972027 0.001444 0.02653 21
African Sub 2240 TTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 88 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 2152 TTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 106 TTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 22 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 126 TTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 548 TTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 92 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 430 TTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=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
Allele Frequency Aggregator Total Global 14660 (T)18=0.98745 del(T)5=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01112, dupTT=0.00000, dupTTT=0.00000, dup(T)4=0.00000, dup(T)5=0.00041, dup(T)9=0.00102
Allele Frequency Aggregator European Sub 11118 (T)18=0.98345 del(T)5=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01466, dupTT=0.00000, dupTTT=0.00000, dup(T)4=0.00000, dup(T)5=0.00054, dup(T)9=0.00135
Allele Frequency Aggregator African Sub 2240 (T)18=1.0000 del(T)5=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000, dup(T)5=0.0000, dup(T)9=0.0000
Allele Frequency Aggregator Latin American 2 Sub 548 (T)18=1.000 del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)9=0.000
Allele Frequency Aggregator Other Sub 430 (T)18=1.000 del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)9=0.000
Allele Frequency Aggregator Latin American 1 Sub 126 (T)18=1.000 del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)9=0.000
Allele Frequency Aggregator Asian Sub 106 (T)18=1.000 del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)9=0.000
Allele Frequency Aggregator South Asian Sub 92 (T)18=1.00 del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)9=0.00
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dup(T)10=0.95
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.46691736_46691740del
GRCh38.p14 chr 3 NC_000003.12:g.46691737_46691740del
GRCh38.p14 chr 3 NC_000003.12:g.46691738_46691740del
GRCh38.p14 chr 3 NC_000003.12:g.46691739_46691740del
GRCh38.p14 chr 3 NC_000003.12:g.46691740del
GRCh38.p14 chr 3 NC_000003.12:g.46691740dup
GRCh38.p14 chr 3 NC_000003.12:g.46691739_46691740dup
GRCh38.p14 chr 3 NC_000003.12:g.46691738_46691740dup
GRCh38.p14 chr 3 NC_000003.12:g.46691737_46691740dup
GRCh38.p14 chr 3 NC_000003.12:g.46691736_46691740dup
GRCh38.p14 chr 3 NC_000003.12:g.46691732_46691740dup
GRCh38.p14 chr 3 NC_000003.12:g.46691731_46691740dup
GRCh37.p13 chr 3 NC_000003.11:g.46733226_46733230del
GRCh37.p13 chr 3 NC_000003.11:g.46733227_46733230del
GRCh37.p13 chr 3 NC_000003.11:g.46733228_46733230del
GRCh37.p13 chr 3 NC_000003.11:g.46733229_46733230del
GRCh37.p13 chr 3 NC_000003.11:g.46733230del
GRCh37.p13 chr 3 NC_000003.11:g.46733230dup
GRCh37.p13 chr 3 NC_000003.11:g.46733229_46733230dup
GRCh37.p13 chr 3 NC_000003.11:g.46733228_46733230dup
GRCh37.p13 chr 3 NC_000003.11:g.46733227_46733230dup
GRCh37.p13 chr 3 NC_000003.11:g.46733226_46733230dup
GRCh37.p13 chr 3 NC_000003.11:g.46733222_46733230dup
GRCh37.p13 chr 3 NC_000003.11:g.46733221_46733230dup
Gene: ALS2CL, ALS2 C-terminal like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ALS2CL transcript variant 2 NM_001190707.2:c.-26+1762…

NM_001190707.2:c.-26+1762_-26+1766del

N/A Intron Variant
ALS2CL transcript variant 1 NM_147129.5:c.-26+1916_-2…

NM_147129.5:c.-26+1916_-26+1920del

N/A Intron Variant
ALS2CL transcript variant 4 NR_033815.3:n. N/A Intron Variant
ALS2CL transcript variant 5 NR_135622.2: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 (T)18= del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)9 dup(T)10
GRCh38.p14 chr 3 NC_000003.12:g.46691723_46691740= NC_000003.12:g.46691736_46691740del NC_000003.12:g.46691737_46691740del NC_000003.12:g.46691738_46691740del NC_000003.12:g.46691739_46691740del NC_000003.12:g.46691740del NC_000003.12:g.46691740dup NC_000003.12:g.46691739_46691740dup NC_000003.12:g.46691738_46691740dup NC_000003.12:g.46691737_46691740dup NC_000003.12:g.46691736_46691740dup NC_000003.12:g.46691732_46691740dup NC_000003.12:g.46691731_46691740dup
GRCh37.p13 chr 3 NC_000003.11:g.46733213_46733230= NC_000003.11:g.46733226_46733230del NC_000003.11:g.46733227_46733230del NC_000003.11:g.46733228_46733230del NC_000003.11:g.46733229_46733230del NC_000003.11:g.46733230del NC_000003.11:g.46733230dup NC_000003.11:g.46733229_46733230dup NC_000003.11:g.46733228_46733230dup NC_000003.11:g.46733227_46733230dup NC_000003.11:g.46733226_46733230dup NC_000003.11:g.46733222_46733230dup NC_000003.11:g.46733221_46733230dup
ALS2CL transcript variant 2 NM_001190707.1:c.-26+1766= NM_001190707.1:c.-26+1762_-26+1766del NM_001190707.1:c.-26+1763_-26+1766del NM_001190707.1:c.-26+1764_-26+1766del NM_001190707.1:c.-26+1765_-26+1766del NM_001190707.1:c.-26+1766del NM_001190707.1:c.-26+1766dup NM_001190707.1:c.-26+1765_-26+1766dup NM_001190707.1:c.-26+1764_-26+1766dup NM_001190707.1:c.-26+1763_-26+1766dup NM_001190707.1:c.-26+1762_-26+1766dup NM_001190707.1:c.-26+1758_-26+1766dup NM_001190707.1:c.-26+1757_-26+1766dup
ALS2CL transcript variant 2 NM_001190707.2:c.-26+1766= NM_001190707.2:c.-26+1762_-26+1766del NM_001190707.2:c.-26+1763_-26+1766del NM_001190707.2:c.-26+1764_-26+1766del NM_001190707.2:c.-26+1765_-26+1766del NM_001190707.2:c.-26+1766del NM_001190707.2:c.-26+1766dup NM_001190707.2:c.-26+1765_-26+1766dup NM_001190707.2:c.-26+1764_-26+1766dup NM_001190707.2:c.-26+1763_-26+1766dup NM_001190707.2:c.-26+1762_-26+1766dup NM_001190707.2:c.-26+1758_-26+1766dup NM_001190707.2:c.-26+1757_-26+1766dup
ALS2CL transcript variant 1 NM_147129.3:c.-26+1920= NM_147129.3:c.-26+1916_-26+1920del NM_147129.3:c.-26+1917_-26+1920del NM_147129.3:c.-26+1918_-26+1920del NM_147129.3:c.-26+1919_-26+1920del NM_147129.3:c.-26+1920del NM_147129.3:c.-26+1920dup NM_147129.3:c.-26+1919_-26+1920dup NM_147129.3:c.-26+1918_-26+1920dup NM_147129.3:c.-26+1917_-26+1920dup NM_147129.3:c.-26+1916_-26+1920dup NM_147129.3:c.-26+1912_-26+1920dup NM_147129.3:c.-26+1911_-26+1920dup
ALS2CL transcript variant 1 NM_147129.5:c.-26+1920= NM_147129.5:c.-26+1916_-26+1920del NM_147129.5:c.-26+1917_-26+1920del NM_147129.5:c.-26+1918_-26+1920del NM_147129.5:c.-26+1919_-26+1920del NM_147129.5:c.-26+1920del NM_147129.5:c.-26+1920dup NM_147129.5:c.-26+1919_-26+1920dup NM_147129.5:c.-26+1918_-26+1920dup NM_147129.5:c.-26+1917_-26+1920dup NM_147129.5:c.-26+1916_-26+1920dup NM_147129.5:c.-26+1912_-26+1920dup NM_147129.5:c.-26+1911_-26+1920dup
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#.

24 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_GENOME_DK ss1583572403 Oct 12, 2018 (152)
2 SWEGEN ss2992244432 Nov 08, 2017 (151)
3 PACBIO ss3784302742 Jul 13, 2019 (153)
4 EVA ss3827791853 Apr 25, 2020 (154)
5 GNOMAD ss4070271421 Apr 26, 2021 (155)
6 GNOMAD ss4070271422 Apr 26, 2021 (155)
7 GNOMAD ss4070271423 Apr 26, 2021 (155)
8 GNOMAD ss4070271424 Apr 26, 2021 (155)
9 GNOMAD ss4070271425 Apr 26, 2021 (155)
10 GNOMAD ss4070271426 Apr 26, 2021 (155)
11 GNOMAD ss4070271427 Apr 26, 2021 (155)
12 TOMMO_GENOMICS ss5158947003 Apr 26, 2021 (155)
13 TOMMO_GENOMICS ss5158947004 Apr 26, 2021 (155)
14 TOMMO_GENOMICS ss5158947005 Apr 26, 2021 (155)
15 1000G_HIGH_COVERAGE ss5253939263 Oct 12, 2022 (156)
16 1000G_HIGH_COVERAGE ss5253939264 Oct 12, 2022 (156)
17 1000G_HIGH_COVERAGE ss5253939265 Oct 12, 2022 (156)
18 HUGCELL_USP ss5453345645 Oct 12, 2022 (156)
19 HUGCELL_USP ss5453345646 Oct 12, 2022 (156)
20 HUGCELL_USP ss5453345647 Oct 12, 2022 (156)
21 HUGCELL_USP ss5453345648 Oct 12, 2022 (156)
22 TOMMO_GENOMICS ss5690538672 Oct 12, 2022 (156)
23 TOMMO_GENOMICS ss5690538673 Oct 12, 2022 (156)
24 TOMMO_GENOMICS ss5690538674 Oct 12, 2022 (156)
25 The Danish reference pan genome NC_000003.11 - 46733213 Apr 25, 2020 (154)
26 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

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

Submission ignored due to conflicting rows:
Row 106464500 (NC_000003.12:46691722::T 7401/123708)
Row 106464501 (NC_000003.12:46691722::TT 1565/123690)
Row 106464502 (NC_000003.12:46691722::TTT 4/123696)...

- Apr 26, 2021 (155)
34 8.3KJPN

Submission ignored due to conflicting rows:
Row 16916310 (NC_000003.11:46733212:T: 44/16758)
Row 16916311 (NC_000003.11:46733212::T 23/16758)
Row 16916312 (NC_000003.11:46733212::TT 1/16758)

- Apr 26, 2021 (155)
35 8.3KJPN

Submission ignored due to conflicting rows:
Row 16916310 (NC_000003.11:46733212:T: 44/16758)
Row 16916311 (NC_000003.11:46733212::T 23/16758)
Row 16916312 (NC_000003.11:46733212::TT 1/16758)

- Apr 26, 2021 (155)
36 8.3KJPN

Submission ignored due to conflicting rows:
Row 16916310 (NC_000003.11:46733212:T: 44/16758)
Row 16916311 (NC_000003.11:46733212::T 23/16758)
Row 16916312 (NC_000003.11:46733212::TT 1/16758)

- Apr 26, 2021 (155)
37 14KJPN

Submission ignored due to conflicting rows:
Row 24375776 (NC_000003.12:46691722:T: 50/28012)
Row 24375777 (NC_000003.12:46691722::T 38/28012)
Row 24375778 (NC_000003.12:46691722::TT 4/28012)

- Oct 12, 2022 (156)
38 14KJPN

Submission ignored due to conflicting rows:
Row 24375776 (NC_000003.12:46691722:T: 50/28012)
Row 24375777 (NC_000003.12:46691722::T 38/28012)
Row 24375778 (NC_000003.12:46691722::TT 4/28012)

- Oct 12, 2022 (156)
39 14KJPN

Submission ignored due to conflicting rows:
Row 24375776 (NC_000003.12:46691722:T: 50/28012)
Row 24375777 (NC_000003.12:46691722::T 38/28012)
Row 24375778 (NC_000003.12:46691722::TT 4/28012)

- Oct 12, 2022 (156)
40 ALFA NC_000003.12 - 46691723 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4070271427 NC_000003.12:46691722:TTTT: NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4070271426 NC_000003.12:46691722:TTT: NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4070271425, ss5453345647 NC_000003.12:46691722:TT: NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss2992244432, ss3784302742, ss3827791853, ss5158947003 NC_000003.11:46733212:T: NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss5253939265, ss5453345645, ss5690538672 NC_000003.12:46691722:T: NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss5158947004 NC_000003.11:46733212::T NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4070271421, ss5253939264, ss5453345646, ss5690538673 NC_000003.12:46691722::T NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss5158947005 NC_000003.11:46733212::TT NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4070271422, ss5253939263, ss5453345648, ss5690538674 NC_000003.12:46691722::TT NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4070271423 NC_000003.12:46691722::TTT NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4070271424 NC_000003.12:46691722::TTTT NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
8611807190 NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
70591 NC_000003.11:46733212::TTTTTTTTTT NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1583572403 NC_000003.11:46733213::TTTTTTTTTT NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2418284015 NC_000003.11:46733212:TTT: NC_000003.12:46691722:TTTTTTTTTTTT…

NC_000003.12:46691722:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

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 rs1029410954

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