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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.

rs34512031

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:190156515-190156524 (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
delTT / delT / dupT / dupTT
Variation Type
Indel Insertion and Deletion
Frequency
delT=0.1619 (1349/8330, ALFA)
delT=0.3290 (1524/4632, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BRINP3 : 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 8330 TTTTTTTTTT=0.7725 TTTTTTTT=0.0000, TTTTTTTTT=0.1619, TTTTTTTTTTT=0.0655, TTTTTTTTTTTT=0.0000 0.731641 0.054327 0.214032 32
European Sub 6744 TTTTTTTTTT=0.7192 TTTTTTTT=0.0000, TTTTTTTTT=0.1999, TTTTTTTTTTT=0.0810, TTTTTTTTTTTT=0.0000 0.65784 0.069338 0.272822 32
African Sub 908 TTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 34 TTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 874 TTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 52 TTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 40 TTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 TTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 40 TTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 368 TTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 38 TTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 180 TTTTTTTTTT=0.994 TTTTTTTT=0.000, TTTTTTTTT=0.006, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000 0.988889 0.0 0.011111 0


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 8330 (T)10=0.7725 delTT=0.0000, delT=0.1619, dupT=0.0655, dupTT=0.0000
Allele Frequency Aggregator European Sub 6744 (T)10=0.7192 delTT=0.0000, delT=0.1999, dupT=0.0810, dupTT=0.0000
Allele Frequency Aggregator African Sub 908 (T)10=1.000 delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator Latin American 2 Sub 368 (T)10=1.000 delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator Other Sub 180 (T)10=0.994 delTT=0.000, delT=0.006, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator Asian Sub 52 (T)10=1.00 delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator Latin American 1 Sub 40 (T)10=1.00 delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator South Asian Sub 38 (T)10=1.00 delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes Global Study-wide 4632 (T)10=0.6710 delT=0.3290
1000Genomes African Sub 1230 (T)10=0.6236 delT=0.3764
1000Genomes South Asian Sub 931 (T)10=0.698 delT=0.302
1000Genomes Europe Sub 907 (T)10=0.605 delT=0.395
1000Genomes East Asian Sub 893 (T)10=0.718 delT=0.282
1000Genomes American Sub 671 (T)10=0.747 delT=0.253
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 1 NC_000001.11:g.190156523_190156524del
GRCh38.p14 chr 1 NC_000001.11:g.190156524del
GRCh38.p14 chr 1 NC_000001.11:g.190156524dup
GRCh38.p14 chr 1 NC_000001.11:g.190156523_190156524dup
GRCh37.p13 chr 1 NC_000001.10:g.190125653_190125654del
GRCh37.p13 chr 1 NC_000001.10:g.190125654del
GRCh37.p13 chr 1 NC_000001.10:g.190125654dup
GRCh37.p13 chr 1 NC_000001.10:g.190125653_190125654dup
Gene: BRINP3, BMP/retinoic acid inducible neural specific 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRINP3 transcript variant 2 NM_001317188.2:c.878+4152…

NM_001317188.2:c.878+4152_878+4153del

N/A Intron Variant
BRINP3 transcript variant 1 NM_199051.3:c.1184+4152_1…

NM_199051.3:c.1184+4152_1184+4153del

N/A Intron Variant
BRINP3 transcript variant X5 XM_011509472.3:c.1094+415…

XM_011509472.3:c.1094+4152_1094+4153del

N/A Intron Variant
BRINP3 transcript variant X8 XM_011509475.3:c.1055+415…

XM_011509475.3:c.1055+4152_1055+4153del

N/A Intron Variant
BRINP3 transcript variant X9 XM_011509476.3:c.878+4152…

XM_011509476.3:c.878+4152_878+4153del

N/A Intron Variant
BRINP3 transcript variant X4 XM_017001125.2:c.1184+415…

XM_017001125.2:c.1184+4152_1184+4153del

N/A Intron Variant
BRINP3 transcript variant X2 XM_017001126.2:c.1184+415…

XM_017001126.2:c.1184+4152_1184+4153del

N/A Intron Variant
BRINP3 transcript variant X6 XM_017001127.2:c.1094+415…

XM_017001127.2:c.1094+4152_1094+4153del

N/A Intron Variant
BRINP3 transcript variant X7 XM_017001128.2:c.1094+415…

XM_017001128.2:c.1094+4152_1094+4153del

N/A Intron Variant
BRINP3 transcript variant X10 XM_017001129.2:c.878+4152…

XM_017001129.2:c.878+4152_878+4153del

N/A Intron Variant
BRINP3 transcript variant X11 XM_017001132.2:c.1185-240…

XM_017001132.2:c.1185-2407_1185-2406del

N/A Intron Variant
BRINP3 transcript variant X12 XM_017001133.2:c.1184+415…

XM_017001133.2:c.1184+4152_1184+4153del

N/A Intron Variant
BRINP3 transcript variant X1 XM_047419245.1:c.1184+415…

XM_047419245.1:c.1184+4152_1184+4153del

N/A Intron Variant
BRINP3 transcript variant X3 XM_047419250.1:c.1184+415…

XM_047419250.1:c.1184+4152_1184+4153del

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)10= delTT delT dupT dupTT
GRCh38.p14 chr 1 NC_000001.11:g.190156515_190156524= NC_000001.11:g.190156523_190156524del NC_000001.11:g.190156524del NC_000001.11:g.190156524dup NC_000001.11:g.190156523_190156524dup
GRCh37.p13 chr 1 NC_000001.10:g.190125645_190125654= NC_000001.10:g.190125653_190125654del NC_000001.10:g.190125654del NC_000001.10:g.190125654dup NC_000001.10:g.190125653_190125654dup
BRINP3 transcript variant 2 NM_001317188.2:c.878+4153= NM_001317188.2:c.878+4152_878+4153del NM_001317188.2:c.878+4153del NM_001317188.2:c.878+4153dup NM_001317188.2:c.878+4152_878+4153dup
BRINP3 transcript NM_199051.1:c.1184+4153= NM_199051.1:c.1184+4152_1184+4153del NM_199051.1:c.1184+4153del NM_199051.1:c.1184+4153dup NM_199051.1:c.1184+4152_1184+4153dup
BRINP3 transcript variant 1 NM_199051.3:c.1184+4153= NM_199051.3:c.1184+4152_1184+4153del NM_199051.3:c.1184+4153del NM_199051.3:c.1184+4153dup NM_199051.3:c.1184+4152_1184+4153dup
BRINP3 transcript variant X2 XM_005245117.1:c.1184+4153= XM_005245117.1:c.1184+4152_1184+4153del XM_005245117.1:c.1184+4153del XM_005245117.1:c.1184+4153dup XM_005245117.1:c.1184+4152_1184+4153dup
FAM5C transcript variant X2 XM_005245118.1:c.1184+4153= XM_005245118.1:c.1184+4152_1184+4153del XM_005245118.1:c.1184+4153del XM_005245118.1:c.1184+4153dup XM_005245118.1:c.1184+4152_1184+4153dup
BRINP3 transcript variant X3 XM_005245119.1:c.1184+4153= XM_005245119.1:c.1184+4152_1184+4153del XM_005245119.1:c.1184+4153del XM_005245119.1:c.1184+4153dup XM_005245119.1:c.1184+4152_1184+4153dup
BRINP3 transcript variant X4 XM_005245120.1:c.1184+4153= XM_005245120.1:c.1184+4152_1184+4153del XM_005245120.1:c.1184+4153del XM_005245120.1:c.1184+4153dup XM_005245120.1:c.1184+4152_1184+4153dup
FAM5C transcript variant X5 XM_005245121.1:c.878+4153= XM_005245121.1:c.878+4152_878+4153del XM_005245121.1:c.878+4153del XM_005245121.1:c.878+4153dup XM_005245121.1:c.878+4152_878+4153dup
FAM5C transcript variant X6 XM_005245122.1:c.878+4153= XM_005245122.1:c.878+4152_878+4153del XM_005245122.1:c.878+4153del XM_005245122.1:c.878+4153dup XM_005245122.1:c.878+4152_878+4153dup
BRINP3 transcript variant X7 XM_005245123.1:c.1185-2406= XM_005245123.1:c.1185-2407_1185-2406del XM_005245123.1:c.1185-2406del XM_005245123.1:c.1185-2406dup XM_005245123.1:c.1185-2407_1185-2406dup
BRINP3 transcript variant X5 XM_011509472.3:c.1094+4153= XM_011509472.3:c.1094+4152_1094+4153del XM_011509472.3:c.1094+4153del XM_011509472.3:c.1094+4153dup XM_011509472.3:c.1094+4152_1094+4153dup
BRINP3 transcript variant X8 XM_011509475.3:c.1055+4153= XM_011509475.3:c.1055+4152_1055+4153del XM_011509475.3:c.1055+4153del XM_011509475.3:c.1055+4153dup XM_011509475.3:c.1055+4152_1055+4153dup
BRINP3 transcript variant X9 XM_011509476.3:c.878+4153= XM_011509476.3:c.878+4152_878+4153del XM_011509476.3:c.878+4153del XM_011509476.3:c.878+4153dup XM_011509476.3:c.878+4152_878+4153dup
BRINP3 transcript variant X4 XM_017001125.2:c.1184+4153= XM_017001125.2:c.1184+4152_1184+4153del XM_017001125.2:c.1184+4153del XM_017001125.2:c.1184+4153dup XM_017001125.2:c.1184+4152_1184+4153dup
BRINP3 transcript variant X2 XM_017001126.2:c.1184+4153= XM_017001126.2:c.1184+4152_1184+4153del XM_017001126.2:c.1184+4153del XM_017001126.2:c.1184+4153dup XM_017001126.2:c.1184+4152_1184+4153dup
BRINP3 transcript variant X6 XM_017001127.2:c.1094+4153= XM_017001127.2:c.1094+4152_1094+4153del XM_017001127.2:c.1094+4153del XM_017001127.2:c.1094+4153dup XM_017001127.2:c.1094+4152_1094+4153dup
BRINP3 transcript variant X7 XM_017001128.2:c.1094+4153= XM_017001128.2:c.1094+4152_1094+4153del XM_017001128.2:c.1094+4153del XM_017001128.2:c.1094+4153dup XM_017001128.2:c.1094+4152_1094+4153dup
BRINP3 transcript variant X10 XM_017001129.2:c.878+4153= XM_017001129.2:c.878+4152_878+4153del XM_017001129.2:c.878+4153del XM_017001129.2:c.878+4153dup XM_017001129.2:c.878+4152_878+4153dup
BRINP3 transcript variant X11 XM_017001132.2:c.1185-2406= XM_017001132.2:c.1185-2407_1185-2406del XM_017001132.2:c.1185-2406del XM_017001132.2:c.1185-2406dup XM_017001132.2:c.1185-2407_1185-2406dup
BRINP3 transcript variant X12 XM_017001133.2:c.1184+4153= XM_017001133.2:c.1184+4152_1184+4153del XM_017001133.2:c.1184+4153del XM_017001133.2:c.1184+4153dup XM_017001133.2:c.1184+4152_1184+4153dup
BRINP3 transcript variant X1 XM_047419245.1:c.1184+4153= XM_047419245.1:c.1184+4152_1184+4153del XM_047419245.1:c.1184+4153del XM_047419245.1:c.1184+4153dup XM_047419245.1:c.1184+4152_1184+4153dup
BRINP3 transcript variant X3 XM_047419250.1:c.1184+4153= XM_047419250.1:c.1184+4152_1184+4153del XM_047419250.1:c.1184+4153del XM_047419250.1:c.1184+4153dup XM_047419250.1:c.1184+4152_1184+4153dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

59 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41277722 Mar 13, 2006 (126)
2 HUMANGENOME_JCVI ss98579750 Dec 05, 2013 (138)
3 BGI ss104670475 Dec 06, 2013 (138)
4 GMI ss287685155 May 09, 2011 (134)
5 GMI ss287685156 May 09, 2011 (137)
6 GMI ss288069760 May 04, 2012 (137)
7 PJP ss294616635 May 09, 2011 (134)
8 PJP ss294616636 May 09, 2011 (137)
9 1000GENOMES ss326113142 May 09, 2011 (137)
10 1000GENOMES ss326117656 May 09, 2011 (137)
11 1000GENOMES ss326154665 May 09, 2011 (137)
12 LUNTER ss551003935 Apr 25, 2013 (138)
13 LUNTER ss551029712 Apr 25, 2013 (138)
14 LUNTER ss552828044 Apr 25, 2013 (138)
15 SSMP ss663142166 Apr 01, 2015 (144)
16 BILGI_BIOE ss666120313 Apr 25, 2013 (138)
17 1000GENOMES ss1367934978 Aug 21, 2014 (142)
18 1000GENOMES ss1367934979 Oct 11, 2018 (152)
19 DDI ss1536257678 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1701556688 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1701557007 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1709962489 Oct 11, 2018 (152)
23 EVA_UK10K_ALSPAC ss1709962502 Oct 11, 2018 (152)
24 SYSTEMSBIOZJU ss2624561370 Nov 08, 2017 (151)
25 SWEGEN ss2988148962 Nov 08, 2017 (151)
26 MCHAISSO ss3064435437 Nov 08, 2017 (151)
27 MCHAISSO ss3065341034 Nov 08, 2017 (151)
28 BEROUKHIMLAB ss3644074624 Oct 11, 2018 (152)
29 BIOINF_KMB_FNS_UNIBA ss3645086986 Oct 11, 2018 (152)
30 BIOINF_KMB_FNS_UNIBA ss3645086987 Oct 11, 2018 (152)
31 URBANLAB ss3646845979 Oct 11, 2018 (152)
32 EVA_DECODE ss3688262746 Jul 12, 2019 (153)
33 EVA_DECODE ss3688262747 Jul 12, 2019 (153)
34 ACPOP ss3727699449 Jul 12, 2019 (153)
35 ACPOP ss3727699450 Jul 12, 2019 (153)
36 KHV_HUMAN_GENOMES ss3800113820 Jul 12, 2019 (153)
37 KHV_HUMAN_GENOMES ss3800113821 Jul 12, 2019 (153)
38 EVA ss3826552086 Apr 25, 2020 (154)
39 EVA ss3836673315 Apr 25, 2020 (154)
40 EVA ss3842083964 Apr 25, 2020 (154)
41 KOGIC ss3946130829 Apr 25, 2020 (154)
42 KOGIC ss3946130830 Apr 25, 2020 (154)
43 KOGIC ss3946130831 Apr 25, 2020 (154)
44 GNOMAD ss4008006174 Apr 25, 2021 (155)
45 GNOMAD ss4008006175 Apr 25, 2021 (155)
46 GNOMAD ss4008006176 Apr 25, 2021 (155)
47 GNOMAD ss4008006177 Apr 25, 2021 (155)
48 TOMMO_GENOMICS ss5147592358 Apr 25, 2021 (155)
49 TOMMO_GENOMICS ss5147592359 Apr 25, 2021 (155)
50 1000G_HIGH_COVERAGE ss5245151351 Oct 12, 2022 (156)
51 1000G_HIGH_COVERAGE ss5245151352 Oct 12, 2022 (156)
52 HUGCELL_USP ss5445650726 Oct 12, 2022 (156)
53 HUGCELL_USP ss5445650727 Oct 12, 2022 (156)
54 HUGCELL_USP ss5445650728 Oct 12, 2022 (156)
55 TOMMO_GENOMICS ss5675109799 Oct 12, 2022 (156)
56 TOMMO_GENOMICS ss5675109800 Oct 12, 2022 (156)
57 TOMMO_GENOMICS ss5675109801 Oct 12, 2022 (156)
58 EVA ss5833003675 Oct 12, 2022 (156)
59 EVA ss5833003676 Oct 12, 2022 (156)
60 1000Genomes NC_000001.10 - 190125645 Oct 11, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2600786 (NC_000001.10:190125644:T: 1426/3854)
Row 2600787 (NC_000001.10:190125644::T 299/3854)

- Oct 11, 2018 (152)
62 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2600786 (NC_000001.10:190125644:T: 1426/3854)
Row 2600787 (NC_000001.10:190125644::T 299/3854)

- Oct 11, 2018 (152)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 34183711 (NC_000001.11:190156514::T 11317/138562)
Row 34183712 (NC_000001.11:190156514::TT 6/138616)
Row 34183713 (NC_000001.11:190156514:T: 49404/138506)...

- Apr 25, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 34183711 (NC_000001.11:190156514::T 11317/138562)
Row 34183712 (NC_000001.11:190156514::TT 6/138616)
Row 34183713 (NC_000001.11:190156514:T: 49404/138506)...

- Apr 25, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 34183711 (NC_000001.11:190156514::T 11317/138562)
Row 34183712 (NC_000001.11:190156514::TT 6/138616)
Row 34183713 (NC_000001.11:190156514:T: 49404/138506)...

- Apr 25, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 34183711 (NC_000001.11:190156514::T 11317/138562)
Row 34183712 (NC_000001.11:190156514::TT 6/138616)
Row 34183713 (NC_000001.11:190156514:T: 49404/138506)...

- Apr 25, 2021 (155)
67 Korean Genome Project

Submission ignored due to conflicting rows:
Row 2508830 (NC_000001.11:190156514:T: 515/1832)
Row 2508831 (NC_000001.11:190156515::T 104/1832)
Row 2508832 (NC_000001.11:190156515::TT 2/1832)

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

Submission ignored due to conflicting rows:
Row 2508830 (NC_000001.11:190156514:T: 515/1832)
Row 2508831 (NC_000001.11:190156515::T 104/1832)
Row 2508832 (NC_000001.11:190156515::TT 2/1832)

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

Submission ignored due to conflicting rows:
Row 2508830 (NC_000001.11:190156514:T: 515/1832)
Row 2508831 (NC_000001.11:190156515::T 104/1832)
Row 2508832 (NC_000001.11:190156515::TT 2/1832)

- Apr 25, 2020 (154)
70 Northern Sweden

Submission ignored due to conflicting rows:
Row 984314 (NC_000001.10:190125644:T: 218/600)
Row 984315 (NC_000001.10:190125644::T 71/600)

- Jul 12, 2019 (153)
71 Northern Sweden

Submission ignored due to conflicting rows:
Row 984314 (NC_000001.10:190125644:T: 218/600)
Row 984315 (NC_000001.10:190125644::T 71/600)

- Jul 12, 2019 (153)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 5561665 (NC_000001.10:190125644::T 900/16760)
Row 5561666 (NC_000001.10:190125644:T: 4574/16760)

- Apr 25, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 5561665 (NC_000001.10:190125644::T 900/16760)
Row 5561666 (NC_000001.10:190125644:T: 4574/16760)

- Apr 25, 2021 (155)
74 14KJPN

Submission ignored due to conflicting rows:
Row 8946903 (NC_000001.11:190156514:T: 7712/28256)
Row 8946904 (NC_000001.11:190156514::T 1521/28256)
Row 8946905 (NC_000001.11:190156514:TT: 1/28256)

- Oct 12, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 8946903 (NC_000001.11:190156514:T: 7712/28256)
Row 8946904 (NC_000001.11:190156514::T 1521/28256)
Row 8946905 (NC_000001.11:190156514:TT: 1/28256)

- Oct 12, 2022 (156)
76 14KJPN

Submission ignored due to conflicting rows:
Row 8946903 (NC_000001.11:190156514:T: 7712/28256)
Row 8946904 (NC_000001.11:190156514::T 1521/28256)
Row 8946905 (NC_000001.11:190156514:TT: 1/28256)

- Oct 12, 2022 (156)
77 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2600786 (NC_000001.10:190125644:T: 1316/3708)
Row 2600787 (NC_000001.10:190125644::T 310/3708)

- Oct 11, 2018 (152)
78 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2600786 (NC_000001.10:190125644:T: 1316/3708)
Row 2600787 (NC_000001.10:190125644::T 310/3708)

- Oct 11, 2018 (152)
79 ALFA NC_000001.11 - 190156515 Apr 25, 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)
rs68122183 May 11, 2012 (137)
rs68122184 Feb 27, 2009 (130)
rs68122185 Feb 27, 2009 (130)
rs150714841 May 04, 2012 (137)
rs375972642 May 13, 2013 (138)
rs138660021 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4008006177, ss5675109801 NC_000001.11:190156514:TT: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTT

(self)
7417999893 NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTT

NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTT

(self)
ss288069760, ss294616635, ss326113142, ss326117656, ss326154665, ss551003935, ss551029712, ss552828044 NC_000001.9:188392267:T: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
ss294616636 NC_000001.9:188392276:T: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
4741532, ss666120313, ss1367934978, ss1536257678, ss1701556688, ss1701557007, ss2624561370, ss2988148962, ss3644074624, ss3727699449, ss3826552086, ss3836673315, ss5147592359, ss5833003675 NC_000001.10:190125644:T: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
ss3064435437, ss3065341034, ss3645086987, ss3646845979, ss3688262746, ss3800113821, ss3842083964, ss3946130829, ss4008006176, ss5245151351, ss5445650726, ss5675109799 NC_000001.11:190156514:T: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
7417999893 NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
ss41277722, ss287685155 NT_004487.19:41614286:T: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
ss98579750 NT_004487.19:41614295:T: NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT

(self)
ss663142166, ss3727699450, ss5147592358, ss5833003676 NC_000001.10:190125644::T NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss1367934979, ss1709962489, ss1709962502 NC_000001.10:190125645::T NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss3645086986, ss4008006174, ss5245151352, ss5445650727, ss5675109800 NC_000001.11:190156514::T NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
7417999893 NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss3688262747, ss3800113820, ss3946130830 NC_000001.11:190156515::T NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss104670475 NT_004487.19:41614295::T NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss287685156 NT_004487.19:41614296::T NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss4008006175, ss5445650728 NC_000001.11:190156514::TT NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTTT

(self)
7417999893 NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTTT

NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTTT

(self)
ss3946130831 NC_000001.11:190156515::TT NC_000001.11:190156514:TTTTTTTTTT:…

NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTTT

(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 rs34512031

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