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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.

rs34983908

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:142323867-142323876 (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

Variation Type
Indel Insertion and Deletion
Frequency
delT=0.08955 (1323/14774, ALFA)
delT=0.2208 (851/3854, ALSPAC)
delT=0.2182 (809/3708, TWINSUK) (+ 3 more)
(T)10=0.026 (19/742, 1000G)
delT=0.162 (97/600, NorthernSweden)
delT=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
XRN1 : 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 14774 TTTTTTTTTT=0.91045 TTTTT=0.00000, TTTTTT=0.00000, TTTTTTTT=0.00000, TTTTTTTTT=0.08955, TTTTTTTTTTT=0.00000 0.838229 0.017328 0.144443 32
European Sub 11300 TTTTTTTTTT=0.88407 TTTTT=0.00000, TTTTTT=0.00000, TTTTTTTT=0.00000, TTTTTTTTT=0.11593, TTTTTTTTTTT=0.00000 0.790619 0.022478 0.186903 24
African Sub 2496 TTTTTTTTTT=0.9984 TTTTT=0.0000, TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0016, TTTTTTTTTTT=0.0000 0.996795 0.0 0.003205 0
African Others Sub 106 TTTTTTTTTT=1.000 TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African American Sub 2390 TTTTTTTTTT=0.9983 TTTTT=0.0000, TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0017, TTTTTTTTTTT=0.0000 0.996653 0.0 0.003347 0
Asian Sub 86 TTTTTTTTTT=0.99 TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.01, TTTTTTTTTTT=0.00 0.976744 0.0 0.023256 0
East Asian Sub 62 TTTTTTTTTT=1.00 TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 TTTTTTTTTT=0.96 TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.04, TTTTTTTTTTT=0.00 0.916667 0.0 0.083333 0
Latin American 1 Sub 86 TTTTTTTTTT=1.00 TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 378 TTTTTTTTTT=1.000 TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 72 TTTTTTTTTT=0.99 TTTTT=0.00, TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.01, TTTTTTTTTTT=0.00 0.972222 0.0 0.027778 0
Other Sub 356 TTTTTTTTTT=0.980 TTTTT=0.000, TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.020, TTTTTTTTTTT=0.000 0.966292 0.005618 0.02809 8


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 14774 (T)10=0.91045 del(T)5=0.00000, del(T)4=0.00000, delTT=0.00000, delT=0.08955, dupT=0.00000
Allele Frequency Aggregator European Sub 11300 (T)10=0.88407 del(T)5=0.00000, del(T)4=0.00000, delTT=0.00000, delT=0.11593, dupT=0.00000
Allele Frequency Aggregator African Sub 2496 (T)10=0.9984 del(T)5=0.0000, del(T)4=0.0000, delTT=0.0000, delT=0.0016, dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 378 (T)10=1.000 del(T)5=0.000, del(T)4=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator Other Sub 356 (T)10=0.980 del(T)5=0.000, del(T)4=0.000, delTT=0.000, delT=0.020, dupT=0.000
Allele Frequency Aggregator Latin American 1 Sub 86 (T)10=1.00 del(T)5=0.00, del(T)4=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator Asian Sub 86 (T)10=0.99 del(T)5=0.00, del(T)4=0.00, delTT=0.00, delT=0.01, dupT=0.00
Allele Frequency Aggregator South Asian Sub 72 (T)10=0.99 del(T)5=0.00, del(T)4=0.00, delTT=0.00, delT=0.01, dupT=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (T)10=0.7792 delT=0.2208
UK 10K study - Twins TWIN COHORT Study-wide 3708 (T)10=0.7818 delT=0.2182
1000Genomes Global Study-wide 742 (T)10=0.026 delT=0.974
1000Genomes Europe Sub 201 (T)10=0.000 delT=1.000
1000Genomes East Asian Sub 159 (T)10=0.000 delT=1.000
1000Genomes American Sub 143 (T)10=0.007 delT=0.993
1000Genomes South Asian Sub 141 (T)10=0.000 delT=1.000
1000Genomes African Sub 98 (T)10=0.18 delT=0.82
Northern Sweden ACPOP Study-wide 600 (T)10=0.838 delT=0.162
The Danish reference pan genome Danish Study-wide 40 (T)10=0.80 delT=0.20
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.142323872_142323876del
GRCh38.p14 chr 3 NC_000003.12:g.142323873_142323876del
GRCh38.p14 chr 3 NC_000003.12:g.142323874_142323876del
GRCh38.p14 chr 3 NC_000003.12:g.142323875_142323876del
GRCh38.p14 chr 3 NC_000003.12:g.142323876del
GRCh38.p14 chr 3 NC_000003.12:g.142323876dup
GRCh37.p13 chr 3 NC_000003.11:g.142042714_142042718del
GRCh37.p13 chr 3 NC_000003.11:g.142042715_142042718del
GRCh37.p13 chr 3 NC_000003.11:g.142042716_142042718del
GRCh37.p13 chr 3 NC_000003.11:g.142042717_142042718del
GRCh37.p13 chr 3 NC_000003.11:g.142042718del
GRCh37.p13 chr 3 NC_000003.11:g.142042718dup
Gene: XRN1, 5'-3' exoribonuclease 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
XRN1 transcript variant 3 NM_001282857.2:c.4405-496…

NM_001282857.2:c.4405-4968_4405-4964del

N/A Intron Variant
XRN1 transcript variant 1 NM_019001.5:c.4402-4968_4…

NM_019001.5:c.4402-4968_4402-4964del

N/A Intron Variant
XRN1 transcript variant 4 NM_001282859.2:c. N/A Genic Downstream Transcript Variant
XRN1 transcript variant X1 XM_011512919.3:c.4405-496…

XM_011512919.3:c.4405-4968_4405-4964del

N/A Intron Variant
XRN1 transcript variant X3 XM_011512920.3:c.4405-517…

XM_011512920.3:c.4405-5177_4405-5173del

N/A Intron Variant
XRN1 transcript variant X2 XM_017006640.2:c.4402-496…

XM_017006640.2:c.4402-4968_4402-4964del

N/A Intron Variant
XRN1 transcript variant X5 XM_017006641.2:c.4405-517…

XM_017006641.2:c.4405-5177_4405-5173del

N/A Intron Variant
XRN1 transcript variant X4 XM_047448356.1:c.4402-517…

XM_047448356.1:c.4402-5177_4402-5173del

N/A Intron Variant
XRN1 transcript variant X6 XM_047448357.1:c.4402-517…

XM_047448357.1:c.4402-5177_4402-5173del

N/A Intron Variant
XRN1 transcript variant X7 XM_047448358.1:c.3775-496…

XM_047448358.1:c.3775-4968_3775-4964del

N/A Intron Variant
XRN1 transcript variant X10 XM_006713673.3:c. N/A Genic Downstream Transcript Variant
XRN1 transcript variant X9 XM_017006642.2:c. N/A Genic Downstream Transcript Variant
XRN1 transcript variant X8 XM_047448359.1:c. N/A Genic Downstream 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 (T)10= del(T)5 del(T)4 delTTT delTT delT dupT
GRCh38.p14 chr 3 NC_000003.12:g.142323867_142323876= NC_000003.12:g.142323872_142323876del NC_000003.12:g.142323873_142323876del NC_000003.12:g.142323874_142323876del NC_000003.12:g.142323875_142323876del NC_000003.12:g.142323876del NC_000003.12:g.142323876dup
GRCh37.p13 chr 3 NC_000003.11:g.142042709_142042718= NC_000003.11:g.142042714_142042718del NC_000003.11:g.142042715_142042718del NC_000003.11:g.142042716_142042718del NC_000003.11:g.142042717_142042718del NC_000003.11:g.142042718del NC_000003.11:g.142042718dup
XRN1 transcript variant 2 NM_001042604.1:c.4402-4964= NM_001042604.1:c.4402-4968_4402-4964del NM_001042604.1:c.4402-4967_4402-4964del NM_001042604.1:c.4402-4966_4402-4964del NM_001042604.1:c.4402-4965_4402-4964del NM_001042604.1:c.4402-4964del NM_001042604.1:c.4402-4964dup
XRN1 transcript variant 3 NM_001282857.2:c.4405-4964= NM_001282857.2:c.4405-4968_4405-4964del NM_001282857.2:c.4405-4967_4405-4964del NM_001282857.2:c.4405-4966_4405-4964del NM_001282857.2:c.4405-4965_4405-4964del NM_001282857.2:c.4405-4964del NM_001282857.2:c.4405-4964dup
XRN1 transcript variant 1 NM_019001.3:c.4402-4964= NM_019001.3:c.4402-4968_4402-4964del NM_019001.3:c.4402-4967_4402-4964del NM_019001.3:c.4402-4966_4402-4964del NM_019001.3:c.4402-4965_4402-4964del NM_019001.3:c.4402-4964del NM_019001.3:c.4402-4964dup
XRN1 transcript variant 1 NM_019001.5:c.4402-4964= NM_019001.5:c.4402-4968_4402-4964del NM_019001.5:c.4402-4967_4402-4964del NM_019001.5:c.4402-4966_4402-4964del NM_019001.5:c.4402-4965_4402-4964del NM_019001.5:c.4402-4964del NM_019001.5:c.4402-4964dup
XRN1 transcript variant X1 XM_005247542.1:c.4405-4964= XM_005247542.1:c.4405-4968_4405-4964del XM_005247542.1:c.4405-4967_4405-4964del XM_005247542.1:c.4405-4966_4405-4964del XM_005247542.1:c.4405-4965_4405-4964del XM_005247542.1:c.4405-4964del XM_005247542.1:c.4405-4964dup
XRN1 transcript variant X2 XM_005247543.1:c.4402-4964= XM_005247543.1:c.4402-4968_4402-4964del XM_005247543.1:c.4402-4967_4402-4964del XM_005247543.1:c.4402-4966_4402-4964del XM_005247543.1:c.4402-4965_4402-4964del XM_005247543.1:c.4402-4964del XM_005247543.1:c.4402-4964dup
XRN1 transcript variant X3 XM_005247544.1:c.3775-4964= XM_005247544.1:c.3775-4968_3775-4964del XM_005247544.1:c.3775-4967_3775-4964del XM_005247544.1:c.3775-4966_3775-4964del XM_005247544.1:c.3775-4965_3775-4964del XM_005247544.1:c.3775-4964del XM_005247544.1:c.3775-4964dup
XRN1 transcript variant X1 XM_011512919.3:c.4405-4964= XM_011512919.3:c.4405-4968_4405-4964del XM_011512919.3:c.4405-4967_4405-4964del XM_011512919.3:c.4405-4966_4405-4964del XM_011512919.3:c.4405-4965_4405-4964del XM_011512919.3:c.4405-4964del XM_011512919.3:c.4405-4964dup
XRN1 transcript variant X3 XM_011512920.3:c.4405-5173= XM_011512920.3:c.4405-5177_4405-5173del XM_011512920.3:c.4405-5176_4405-5173del XM_011512920.3:c.4405-5175_4405-5173del XM_011512920.3:c.4405-5174_4405-5173del XM_011512920.3:c.4405-5173del XM_011512920.3:c.4405-5173dup
XRN1 transcript variant X2 XM_017006640.2:c.4402-4964= XM_017006640.2:c.4402-4968_4402-4964del XM_017006640.2:c.4402-4967_4402-4964del XM_017006640.2:c.4402-4966_4402-4964del XM_017006640.2:c.4402-4965_4402-4964del XM_017006640.2:c.4402-4964del XM_017006640.2:c.4402-4964dup
XRN1 transcript variant X5 XM_017006641.2:c.4405-5173= XM_017006641.2:c.4405-5177_4405-5173del XM_017006641.2:c.4405-5176_4405-5173del XM_017006641.2:c.4405-5175_4405-5173del XM_017006641.2:c.4405-5174_4405-5173del XM_017006641.2:c.4405-5173del XM_017006641.2:c.4405-5173dup
XRN1 transcript variant X4 XM_047448356.1:c.4402-5173= XM_047448356.1:c.4402-5177_4402-5173del XM_047448356.1:c.4402-5176_4402-5173del XM_047448356.1:c.4402-5175_4402-5173del XM_047448356.1:c.4402-5174_4402-5173del XM_047448356.1:c.4402-5173del XM_047448356.1:c.4402-5173dup
XRN1 transcript variant X6 XM_047448357.1:c.4402-5173= XM_047448357.1:c.4402-5177_4402-5173del XM_047448357.1:c.4402-5176_4402-5173del XM_047448357.1:c.4402-5175_4402-5173del XM_047448357.1:c.4402-5174_4402-5173del XM_047448357.1:c.4402-5173del XM_047448357.1:c.4402-5173dup
XRN1 transcript variant X7 XM_047448358.1:c.3775-4964= XM_047448358.1:c.3775-4968_3775-4964del XM_047448358.1:c.3775-4967_3775-4964del XM_047448358.1:c.3775-4966_3775-4964del XM_047448358.1:c.3775-4965_3775-4964del XM_047448358.1:c.3775-4964del XM_047448358.1:c.3775-4964dup
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#.

41 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42105870 Dec 03, 2013 (138)
2 GMI ss288425187 May 04, 2012 (137)
3 PJP ss295129596 May 09, 2011 (137)
4 1000GENOMES ss326432900 May 09, 2011 (137)
5 1000GENOMES ss326457021 May 09, 2011 (137)
6 LUNTER ss551286787 Apr 25, 2013 (138)
7 SSMP ss663361647 Apr 01, 2015 (144)
8 EVA-GONL ss979240010 Aug 21, 2014 (142)
9 1000GENOMES ss1371079756 Aug 21, 2014 (142)
10 EVA_GENOME_DK ss1576049734 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1703853932 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1703853974 Apr 01, 2015 (144)
13 JJLAB ss2030548104 Sep 14, 2016 (149)
14 SYSTEMSBIOZJU ss2625402809 Nov 08, 2017 (151)
15 SWEGEN ss2993321096 Nov 08, 2017 (151)
16 BIOINF_KMB_FNS_UNIBA ss3645747254 Oct 12, 2018 (152)
17 URBANLAB ss3647543306 Oct 12, 2018 (152)
18 EVA_DECODE ss3710438787 Jul 13, 2019 (153)
19 EVA_DECODE ss3710438788 Jul 13, 2019 (153)
20 ACPOP ss3730415742 Jul 13, 2019 (153)
21 EVA ss3828112579 Apr 25, 2020 (154)
22 KOGIC ss3952565977 Apr 25, 2020 (154)
23 KOGIC ss3952565978 Apr 25, 2020 (154)
24 GNOMAD ss4082152792 Apr 27, 2021 (155)
25 GNOMAD ss4082152794 Apr 27, 2021 (155)
26 GNOMAD ss4082152795 Apr 27, 2021 (155)
27 GNOMAD ss4082152796 Apr 27, 2021 (155)
28 TOPMED ss4586328414 Apr 27, 2021 (155)
29 TOPMED ss4586328415 Apr 27, 2021 (155)
30 TOMMO_GENOMICS ss5161936226 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5161936227 Apr 27, 2021 (155)
32 1000G_HIGH_COVERAGE ss5256295768 Oct 12, 2022 (156)
33 HUGCELL_USP ss5455406760 Oct 12, 2022 (156)
34 HUGCELL_USP ss5455406762 Oct 12, 2022 (156)
35 TOMMO_GENOMICS ss5694918443 Oct 12, 2022 (156)
36 TOMMO_GENOMICS ss5694918444 Oct 12, 2022 (156)
37 YY_MCH ss5804313089 Oct 12, 2022 (156)
38 EVA ss5826583188 Oct 12, 2022 (156)
39 EVA ss5853869834 Oct 12, 2022 (156)
40 EVA ss5871312517 Oct 12, 2022 (156)
41 EVA ss5961697583 Oct 12, 2022 (156)
42 1000Genomes NC_000003.11 - 142042709 Oct 12, 2018 (152)
43 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 142042709 Oct 12, 2018 (152)
44 The Danish reference pan genome NC_000003.11 - 142042709 Apr 25, 2020 (154)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 126064167 (NC_000003.12:142323866::T 32/137450)
Row 126064169 (NC_000003.12:142323866:T: 23445/137352)
Row 126064170 (NC_000003.12:142323866:TT: 4/137456)...

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

Submission ignored due to conflicting rows:
Row 126064167 (NC_000003.12:142323866::T 32/137450)
Row 126064169 (NC_000003.12:142323866:T: 23445/137352)
Row 126064170 (NC_000003.12:142323866:TT: 4/137456)...

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

Submission ignored due to conflicting rows:
Row 126064167 (NC_000003.12:142323866::T 32/137450)
Row 126064169 (NC_000003.12:142323866:T: 23445/137352)
Row 126064170 (NC_000003.12:142323866:TT: 4/137456)...

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

Submission ignored due to conflicting rows:
Row 126064167 (NC_000003.12:142323866::T 32/137450)
Row 126064169 (NC_000003.12:142323866:T: 23445/137352)
Row 126064170 (NC_000003.12:142323866:TT: 4/137456)...

- Apr 27, 2021 (155)
49 Korean Genome Project

Submission ignored due to conflicting rows:
Row 8943978 (NC_000003.12:142323866:T: 332/1830)
Row 8943979 (NC_000003.12:142323867::T 6/1830)

- Apr 25, 2020 (154)
50 Korean Genome Project

Submission ignored due to conflicting rows:
Row 8943978 (NC_000003.12:142323866:T: 332/1830)
Row 8943979 (NC_000003.12:142323867::T 6/1830)

- Apr 25, 2020 (154)
51 Northern Sweden NC_000003.11 - 142042709 Jul 13, 2019 (153)
52 8.3KJPN

Submission ignored due to conflicting rows:
Row 19905533 (NC_000003.11:142042708:T: 2781/16760)
Row 19905534 (NC_000003.11:142042708::T 6/16760)

- Apr 27, 2021 (155)
53 8.3KJPN

Submission ignored due to conflicting rows:
Row 19905533 (NC_000003.11:142042708:T: 2781/16760)
Row 19905534 (NC_000003.11:142042708::T 6/16760)

- Apr 27, 2021 (155)
54 14KJPN

Submission ignored due to conflicting rows:
Row 28755547 (NC_000003.12:142323866:T: 4650/28258)
Row 28755548 (NC_000003.12:142323866::T 15/28258)

- Oct 12, 2022 (156)
55 14KJPN

Submission ignored due to conflicting rows:
Row 28755547 (NC_000003.12:142323866:T: 4650/28258)
Row 28755548 (NC_000003.12:142323866::T 15/28258)

- Oct 12, 2022 (156)
56 TopMed

Submission ignored due to conflicting rows:
Row 423705969 (NC_000003.12:142323866:T: 43861/264690)
Row 423705970 (NC_000003.12:142323866:TTTTT: 1/264690)

- Apr 27, 2021 (155)
57 TopMed

Submission ignored due to conflicting rows:
Row 423705969 (NC_000003.12:142323866:T: 43861/264690)
Row 423705970 (NC_000003.12:142323866:TTTTT: 1/264690)

- Apr 27, 2021 (155)
58 UK 10K study - Twins NC_000003.11 - 142042709 Oct 12, 2018 (152)
59 ALFA NC_000003.12 - 142323867 Apr 27, 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)
rs140282996 May 11, 2012 (137)
rs145150294 Sep 17, 2011 (135)
rs370168118 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4586328415 NC_000003.12:142323866:TTTTT: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTT

(self)
6324141231 NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTT

NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTT

(self)
6324141231 NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTT

NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTT

(self)
ss4082152796 NC_000003.12:142323866:TTT: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTT

(self)
ss4082152795 NC_000003.12:142323866:TT: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTT

(self)
6324141231 NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTT

NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTT

(self)
ss288425187, ss295129596, ss326432900, ss326457021, ss551286787 NC_000003.10:143525398:T: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT

(self)
17741385, 9880819, 860576, 3700607, 9880819, ss663361647, ss979240010, ss1371079756, ss1576049734, ss1703853932, ss1703853974, ss2030548104, ss2625402809, ss2993321096, ss3730415742, ss3828112579, ss5161936226, ss5826583188, ss5961697583 NC_000003.11:142042708:T: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT

(self)
ss3645747254, ss3647543306, ss3710438787, ss3952565977, ss4082152794, ss4586328414, ss5256295768, ss5455406760, ss5694918443, ss5804313089, ss5853869834, ss5871312517 NC_000003.12:142323866:T: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT

(self)
6324141231 NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT

NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT

(self)
ss42105870 NT_005612.16:48537863:T: NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTT

(self)
ss5161936227 NC_000003.11:142042708::T NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss4082152792, ss5455406762, ss5694918444 NC_000003.12:142323866::T NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTTTT

(self)
6324141231 NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTTTT

NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss3710438788, ss3952565978 NC_000003.12:142323867::T NC_000003.12:142323866:TTTTTTTTTT:…

NC_000003.12:142323866:TTTTTTTTTT:TTTTTTTTTTT

(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 rs34983908

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