Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs34011596

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:3036046-3036064 (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)13

Variation Type
Indel Insertion and Deletion
Frequency
(T)19=0.1969 (986/5008, 1000G)
(T)19=0.3483 (1595/4580, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CARD11 : 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 4580 TTTTTTTTTTTTTTTTTTT=0.3483 TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTTT=0.1740, TTTTTTTTTTTTTTTTTT=0.4745, TTTTTTTTTTTTTTTTTTTT=0.0022, TTTTTTTTTTTTTTTTTTTTT=0.0000 0.237484 0.353659 0.408858 24
European Sub 4540 TTTTTTTTTTTTTTTTTTT=0.3436 TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTTTT=0.1751, TTTTTTTTTTTTTTTTTT=0.4780, TTTTTTTTTTTTTTTTTTTT=0.0022, TTTTTTTTTTTTTTTTTTTTT=0.0000 0.229221 0.357143 0.413636 21
African Sub 18 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
African American Sub 18 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
East Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 2 Sub 12 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Sub 10 TTTTTTTTTTTTTTTTTTT=0.5 TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.2, TTTTTTTTTTTTTTTTTT=0.3, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0 0.666667 0.333333 0.0 2


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
1000Genomes Global Study-wide 5008 (T)19=0.1969 delT=0.8031
1000Genomes African Sub 1322 (T)19=0.2042 delT=0.7958
1000Genomes East Asian Sub 1008 (T)19=0.1200 delT=0.8800
1000Genomes Europe Sub 1006 (T)19=0.2475 delT=0.7525
1000Genomes South Asian Sub 978 (T)19=0.184 delT=0.816
1000Genomes American Sub 694 (T)19=0.239 delT=0.761
Allele Frequency Aggregator Total Global 4580 (T)19=0.3483 del(T)4=0.0000, delTTT=0.0011, delTT=0.1740, delT=0.4745, dupT=0.0022, dupTT=0.0000
Allele Frequency Aggregator European Sub 4540 (T)19=0.3436 del(T)4=0.0000, delTTT=0.0011, delTT=0.1751, delT=0.4780, dupT=0.0022, dupTT=0.0000
Allele Frequency Aggregator African Sub 18 (T)19=1.00 del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator Latin American 2 Sub 12 (T)19=1.00 del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator Other Sub 10 (T)19=0.5 del(T)4=0.0, delTTT=0.0, delTT=0.2, delT=0.3, dupT=0.0, dupTT=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (T)19=0 del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Allele Frequency Aggregator South Asian Sub 0 (T)19=0 del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Allele Frequency Aggregator Asian Sub 0 (T)19=0 del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.3036060_3036064del
GRCh38.p14 chr 7 NC_000007.14:g.3036061_3036064del
GRCh38.p14 chr 7 NC_000007.14:g.3036062_3036064del
GRCh38.p14 chr 7 NC_000007.14:g.3036063_3036064del
GRCh38.p14 chr 7 NC_000007.14:g.3036064del
GRCh38.p14 chr 7 NC_000007.14:g.3036064dup
GRCh38.p14 chr 7 NC_000007.14:g.3036063_3036064dup
GRCh38.p14 chr 7 NC_000007.14:g.3036062_3036064dup
GRCh38.p14 chr 7 NC_000007.14:g.3036052_3036064dup
GRCh37.p13 chr 7 NC_000007.13:g.3075694_3075698del
GRCh37.p13 chr 7 NC_000007.13:g.3075695_3075698del
GRCh37.p13 chr 7 NC_000007.13:g.3075696_3075698del
GRCh37.p13 chr 7 NC_000007.13:g.3075697_3075698del
GRCh37.p13 chr 7 NC_000007.13:g.3075698del
GRCh37.p13 chr 7 NC_000007.13:g.3075698dup
GRCh37.p13 chr 7 NC_000007.13:g.3075697_3075698dup
GRCh37.p13 chr 7 NC_000007.13:g.3075696_3075698dup
GRCh37.p13 chr 7 NC_000007.13:g.3075686_3075698dup
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12826_12830del
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12827_12830del
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12828_12830del
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12829_12830del
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12830del
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12830dup
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12829_12830dup
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12828_12830dup
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12818_12830dup
Gene: CARD11, caspase recruitment domain family member 11 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CARD11 transcript variant 1 NM_001324281.3:c.-187+761…

NM_001324281.3:c.-187+7617_-187+7621del

N/A Intron Variant
CARD11 transcript variant 2 NM_032415.7:c.-126+7617_-…

NM_032415.7:c.-126+7617_-126+7621del

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)19= del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)13
GRCh38.p14 chr 7 NC_000007.14:g.3036046_3036064= NC_000007.14:g.3036060_3036064del NC_000007.14:g.3036061_3036064del NC_000007.14:g.3036062_3036064del NC_000007.14:g.3036063_3036064del NC_000007.14:g.3036064del NC_000007.14:g.3036064dup NC_000007.14:g.3036063_3036064dup NC_000007.14:g.3036062_3036064dup NC_000007.14:g.3036052_3036064dup
GRCh37.p13 chr 7 NC_000007.13:g.3075680_3075698= NC_000007.13:g.3075694_3075698del NC_000007.13:g.3075695_3075698del NC_000007.13:g.3075696_3075698del NC_000007.13:g.3075697_3075698del NC_000007.13:g.3075698del NC_000007.13:g.3075698dup NC_000007.13:g.3075697_3075698dup NC_000007.13:g.3075696_3075698dup NC_000007.13:g.3075686_3075698dup
CARD11 RefSeqGene (LRG_729) NG_027759.1:g.12812_12830= NG_027759.1:g.12826_12830del NG_027759.1:g.12827_12830del NG_027759.1:g.12828_12830del NG_027759.1:g.12829_12830del NG_027759.1:g.12830del NG_027759.1:g.12830dup NG_027759.1:g.12829_12830dup NG_027759.1:g.12828_12830dup NG_027759.1:g.12818_12830dup
CARD11 transcript variant 1 NM_001324281.3:c.-187+7621= NM_001324281.3:c.-187+7617_-187+7621del NM_001324281.3:c.-187+7618_-187+7621del NM_001324281.3:c.-187+7619_-187+7621del NM_001324281.3:c.-187+7620_-187+7621del NM_001324281.3:c.-187+7621del NM_001324281.3:c.-187+7621dup NM_001324281.3:c.-187+7620_-187+7621dup NM_001324281.3:c.-187+7619_-187+7621dup NM_001324281.3:c.-187+7609_-187+7621dup
CARD11 transcript NM_032415.4:c.-126+7621= NM_032415.4:c.-126+7617_-126+7621del NM_032415.4:c.-126+7618_-126+7621del NM_032415.4:c.-126+7619_-126+7621del NM_032415.4:c.-126+7620_-126+7621del NM_032415.4:c.-126+7621del NM_032415.4:c.-126+7621dup NM_032415.4:c.-126+7620_-126+7621dup NM_032415.4:c.-126+7619_-126+7621dup NM_032415.4:c.-126+7609_-126+7621dup
CARD11 transcript variant 2 NM_032415.7:c.-126+7621= NM_032415.7:c.-126+7617_-126+7621del NM_032415.7:c.-126+7618_-126+7621del NM_032415.7:c.-126+7619_-126+7621del NM_032415.7:c.-126+7620_-126+7621del NM_032415.7:c.-126+7621del NM_032415.7:c.-126+7621dup NM_032415.7:c.-126+7620_-126+7621dup NM_032415.7:c.-126+7619_-126+7621dup NM_032415.7:c.-126+7609_-126+7621dup
CARD11 transcript variant X2 XM_005249891.1:c.-191+7621= XM_005249891.1:c.-191+7617_-191+7621del XM_005249891.1:c.-191+7618_-191+7621del XM_005249891.1:c.-191+7619_-191+7621del XM_005249891.1:c.-191+7620_-191+7621del XM_005249891.1:c.-191+7621del XM_005249891.1:c.-191+7621dup XM_005249891.1:c.-191+7620_-191+7621dup XM_005249891.1:c.-191+7619_-191+7621dup XM_005249891.1:c.-191+7609_-191+7621dup
CARD11 transcript variant X3 XM_005249892.1:c.-126+7621= XM_005249892.1:c.-126+7617_-126+7621del XM_005249892.1:c.-126+7618_-126+7621del XM_005249892.1:c.-126+7619_-126+7621del XM_005249892.1:c.-126+7620_-126+7621del XM_005249892.1:c.-126+7621del XM_005249892.1:c.-126+7621dup XM_005249892.1:c.-126+7620_-126+7621dup XM_005249892.1:c.-126+7619_-126+7621dup XM_005249892.1:c.-126+7609_-126+7621dup
CARD11 transcript variant X4 XM_005249893.1:c.-126+7621= XM_005249893.1:c.-126+7617_-126+7621del XM_005249893.1:c.-126+7618_-126+7621del XM_005249893.1:c.-126+7619_-126+7621del XM_005249893.1:c.-126+7620_-126+7621del XM_005249893.1:c.-126+7621del XM_005249893.1:c.-126+7621dup XM_005249893.1:c.-126+7620_-126+7621dup XM_005249893.1:c.-126+7619_-126+7621dup XM_005249893.1:c.-126+7609_-126+7621dup
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#.

46 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss43026562 Dec 03, 2013 (138)
2 PJP ss295321709 May 09, 2011 (134)
3 1000GENOMES ss1376675963 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1705491899 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1705491998 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1710309262 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1710309306 Apr 01, 2015 (144)
8 SWEGEN ss3000486911 Nov 08, 2017 (151)
9 MCHAISSO ss3065120097 Nov 08, 2017 (151)
10 BIOINF_KMB_FNS_UNIBA ss3646005650 Oct 12, 2018 (152)
11 EVA_DECODE ss3718935492 Jul 13, 2019 (153)
12 EVA_DECODE ss3718935493 Jul 13, 2019 (153)
13 EVA_DECODE ss3718935494 Jul 13, 2019 (153)
14 EVA_DECODE ss3718935495 Jul 13, 2019 (153)
15 EVA_DECODE ss3718935496 Jul 13, 2019 (153)
16 EVA_DECODE ss3718935497 Jul 13, 2019 (153)
17 ACPOP ss3734280050 Jul 13, 2019 (153)
18 ACPOP ss3734280051 Jul 13, 2019 (153)
19 PACBIO ss3785710207 Jul 13, 2019 (153)
20 PACBIO ss3791026988 Jul 13, 2019 (153)
21 PACBIO ss3795906656 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3809247550 Jul 13, 2019 (153)
23 EVA ss3830366474 Apr 26, 2020 (154)
24 GNOMAD ss4156976952 Apr 26, 2021 (155)
25 GNOMAD ss4156976953 Apr 26, 2021 (155)
26 GNOMAD ss4156976954 Apr 26, 2021 (155)
27 GNOMAD ss4156976955 Apr 26, 2021 (155)
28 GNOMAD ss4156976956 Apr 26, 2021 (155)
29 GNOMAD ss4156976957 Apr 26, 2021 (155)
30 GNOMAD ss4156976958 Apr 26, 2021 (155)
31 GNOMAD ss4156976959 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5181435123 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5181435124 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5181435125 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5271524355 Oct 13, 2022 (156)
36 1000G_HIGH_COVERAGE ss5271524356 Oct 13, 2022 (156)
37 1000G_HIGH_COVERAGE ss5271524357 Oct 13, 2022 (156)
38 1000G_HIGH_COVERAGE ss5271524358 Oct 13, 2022 (156)
39 HUGCELL_USP ss5468846775 Oct 13, 2022 (156)
40 HUGCELL_USP ss5468846776 Oct 13, 2022 (156)
41 HUGCELL_USP ss5468846777 Oct 13, 2022 (156)
42 HUGCELL_USP ss5468846778 Oct 13, 2022 (156)
43 TOMMO_GENOMICS ss5720779160 Oct 13, 2022 (156)
44 TOMMO_GENOMICS ss5720779161 Oct 13, 2022 (156)
45 TOMMO_GENOMICS ss5720779162 Oct 13, 2022 (156)
46 EVA ss5857371774 Oct 13, 2022 (156)
47 1000Genomes NC_000007.13 - 3075680 Oct 12, 2018 (152)
48 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 19798583 (NC_000007.13:3075680:T: 3232/3854)
Row 19798584 (NC_000007.13:3075679:TTT: 616/3854)

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

Submission ignored due to conflicting rows:
Row 19798583 (NC_000007.13:3075680:T: 3232/3854)
Row 19798584 (NC_000007.13:3075679:TTT: 616/3854)

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

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

Submission ignored due to conflicting rows:
Row 250497418 (NC_000007.14:3036045::T 1146/119532)
Row 250497419 (NC_000007.14:3036045::TT 8/119546)
Row 250497420 (NC_000007.14:3036045::TTT 1/119548)...

- Apr 26, 2021 (155)
58 Northern Sweden

Submission ignored due to conflicting rows:
Row 7564915 (NC_000007.13:3075679:T: 320/598)
Row 7564916 (NC_000007.13:3075679:TT: 119/598)

- Jul 13, 2019 (153)
59 Northern Sweden

Submission ignored due to conflicting rows:
Row 7564915 (NC_000007.13:3075679:T: 320/598)
Row 7564916 (NC_000007.13:3075679:TT: 119/598)

- Jul 13, 2019 (153)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 39404430 (NC_000007.13:3075679:T: 10645/16746)
Row 39404431 (NC_000007.13:3075679:TT: 5864/16746)
Row 39404432 (NC_000007.13:3075679:TTT: 8/16746)

- Apr 26, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 39404430 (NC_000007.13:3075679:T: 10645/16746)
Row 39404431 (NC_000007.13:3075679:TT: 5864/16746)
Row 39404432 (NC_000007.13:3075679:TTT: 8/16746)

- Apr 26, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 39404430 (NC_000007.13:3075679:T: 10645/16746)
Row 39404431 (NC_000007.13:3075679:TT: 5864/16746)
Row 39404432 (NC_000007.13:3075679:TTT: 8/16746)

- Apr 26, 2021 (155)
63 14KJPN

Submission ignored due to conflicting rows:
Row 54616264 (NC_000007.14:3036045:T: 17917/28258)
Row 54616265 (NC_000007.14:3036045:TT: 9959/28258)
Row 54616266 (NC_000007.14:3036045:TTT: 12/28258)

- Oct 13, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 54616264 (NC_000007.14:3036045:T: 17917/28258)
Row 54616265 (NC_000007.14:3036045:TT: 9959/28258)
Row 54616266 (NC_000007.14:3036045:TTT: 12/28258)

- Oct 13, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 54616264 (NC_000007.14:3036045:T: 17917/28258)
Row 54616265 (NC_000007.14:3036045:TT: 9959/28258)
Row 54616266 (NC_000007.14:3036045:TTT: 12/28258)

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

Submission ignored due to conflicting rows:
Row 19798583 (NC_000007.13:3075680:T: 3157/3708)
Row 19798584 (NC_000007.13:3075679:TTT: 548/3708)

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

Submission ignored due to conflicting rows:
Row 19798583 (NC_000007.13:3075680:T: 3157/3708)
Row 19798584 (NC_000007.13:3075679:TTT: 548/3708)

- Oct 12, 2018 (152)
68 ALFA NC_000007.14 - 3036046 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
ss4156976959 NC_000007.14:3036045:TTTTT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4156976958 NC_000007.14:3036045:TTTT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
3044082984 NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss1705491899, ss1705491998, ss3000486911, ss5181435125 NC_000007.13:3075679:TTT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3718935492, ss4156976957, ss5271524358, ss5468846778, ss5720779162 NC_000007.14:3036045:TTT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
3044082984 NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3734280051, ss5181435124 NC_000007.13:3075679:TT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss1710309262, ss1710309306 NC_000007.13:3075680:TT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3065120097, ss4156976956, ss5271524355, ss5468846775, ss5720779161 NC_000007.14:3036045:TT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
3044082984 NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3718935493 NC_000007.14:3036046:TT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss43026562 NT_007819.17:3065679:TT: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss295321709 NC_000007.12:3042205:T: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
35506610, ss1376675963, ss3734280050, ss3785710207, ss3791026988, ss3795906656, ss3830366474, ss5181435123 NC_000007.13:3075679:T: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
NC_000007.13:3075680:T: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3646005650, ss3809247550, ss4156976955, ss5271524356, ss5468846776, ss5720779160, ss5857371774 NC_000007.14:3036045:T: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
3044082984 NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3718935494 NC_000007.14:3036047:T: NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss43026562 NT_007819.17:3065679:TT:T NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4156976952, ss5271524357, ss5468846777 NC_000007.14:3036045::T NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
3044082984 NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3718935495 NC_000007.14:3036048::T NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4156976953 NC_000007.14:3036045::TT NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
3044082984 NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4156976954 NC_000007.14:3036045::TTT NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3718935496 NC_000007.14:3036048::TTT NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3718935497 NC_000007.14:3036048::TTTTTTTTTTTTT NC_000007.14:3036045:TTTTTTTTTTTTT…

NC_000007.14:3036045:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs34011596

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