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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.

rs34165758

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:45149434-45149450 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)7 / del(A)5 / del(A)4 / delA…

del(A)7 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)8

Variation Type
Indel Insertion and Deletion
Frequency
del(A)7=0.0000 (0/5684, ALFA)
delAAA=0.0000 (0/5684, ALFA)
delAA=0.0000 (0/5684, ALFA) (+ 6 more)
delA=0.0000 (0/5684, ALFA)
dupA=0.0000 (0/5684, ALFA)
dupAA=0.0000 (0/5684, ALFA)
dupAAA=0.0000 (0/5684, ALFA)
dup(A)4=0.0000 (0/5684, ALFA)
delA=0.1563 (783/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GTF2F2 : 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 5684 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 4488 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 336 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 8 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 328 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 92 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 68 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 68 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 410 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 64 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 226 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=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 5684 (A)17=1.0000 del(A)7=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 4488 (A)17=1.0000 del(A)7=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator Latin American 2 Sub 410 (A)17=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator African Sub 336 (A)17=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 226 (A)17=1.000 del(A)7=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Asian Sub 92 (A)17=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 68 (A)17=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 64 (A)17=1.00 del(A)7=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
1000Genomes Global Study-wide 5008 (A)17=0.8437 delA=0.1563
1000Genomes African Sub 1322 (A)17=0.5582 delA=0.4418
1000Genomes East Asian Sub 1008 (A)17=0.9702 delA=0.0298
1000Genomes Europe Sub 1006 (A)17=0.9553 delA=0.0447
1000Genomes South Asian Sub 978 (A)17=0.926 delA=0.074
1000Genomes American Sub 694 (A)17=0.925 delA=0.075
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 13 NC_000013.11:g.45149444_45149450del
GRCh38.p14 chr 13 NC_000013.11:g.45149446_45149450del
GRCh38.p14 chr 13 NC_000013.11:g.45149447_45149450del
GRCh38.p14 chr 13 NC_000013.11:g.45149448_45149450del
GRCh38.p14 chr 13 NC_000013.11:g.45149449_45149450del
GRCh38.p14 chr 13 NC_000013.11:g.45149450del
GRCh38.p14 chr 13 NC_000013.11:g.45149450dup
GRCh38.p14 chr 13 NC_000013.11:g.45149449_45149450dup
GRCh38.p14 chr 13 NC_000013.11:g.45149448_45149450dup
GRCh38.p14 chr 13 NC_000013.11:g.45149447_45149450dup
GRCh38.p14 chr 13 NC_000013.11:g.45149443_45149450dup
GRCh37.p13 chr 13 NC_000013.10:g.45723579_45723585del
GRCh37.p13 chr 13 NC_000013.10:g.45723581_45723585del
GRCh37.p13 chr 13 NC_000013.10:g.45723582_45723585del
GRCh37.p13 chr 13 NC_000013.10:g.45723583_45723585del
GRCh37.p13 chr 13 NC_000013.10:g.45723584_45723585del
GRCh37.p13 chr 13 NC_000013.10:g.45723585del
GRCh37.p13 chr 13 NC_000013.10:g.45723585dup
GRCh37.p13 chr 13 NC_000013.10:g.45723584_45723585dup
GRCh37.p13 chr 13 NC_000013.10:g.45723583_45723585dup
GRCh37.p13 chr 13 NC_000013.10:g.45723582_45723585dup
GRCh37.p13 chr 13 NC_000013.10:g.45723578_45723585dup
Gene: GTF2F2, general transcription factor IIF subunit 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GTF2F2 transcript NM_004128.3:c.141-326_141…

NM_004128.3:c.141-326_141-320del

N/A Intron Variant
GTF2F2 transcript variant X1 XM_011535052.4:c.141-326_…

XM_011535052.4:c.141-326_141-320del

N/A Intron Variant
GTF2F2 transcript variant X3 XM_011535053.4:c.141-326_…

XM_011535053.4:c.141-326_141-320del

N/A Intron Variant
GTF2F2 transcript variant X2 XM_017020551.2:c. N/A Genic Upstream 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 (A)17= del(A)7 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)8
GRCh38.p14 chr 13 NC_000013.11:g.45149434_45149450= NC_000013.11:g.45149444_45149450del NC_000013.11:g.45149446_45149450del NC_000013.11:g.45149447_45149450del NC_000013.11:g.45149448_45149450del NC_000013.11:g.45149449_45149450del NC_000013.11:g.45149450del NC_000013.11:g.45149450dup NC_000013.11:g.45149449_45149450dup NC_000013.11:g.45149448_45149450dup NC_000013.11:g.45149447_45149450dup NC_000013.11:g.45149443_45149450dup
GRCh37.p13 chr 13 NC_000013.10:g.45723569_45723585= NC_000013.10:g.45723579_45723585del NC_000013.10:g.45723581_45723585del NC_000013.10:g.45723582_45723585del NC_000013.10:g.45723583_45723585del NC_000013.10:g.45723584_45723585del NC_000013.10:g.45723585del NC_000013.10:g.45723585dup NC_000013.10:g.45723584_45723585dup NC_000013.10:g.45723583_45723585dup NC_000013.10:g.45723582_45723585dup NC_000013.10:g.45723578_45723585dup
GTF2F2 transcript NM_004128.2:c.141-336= NM_004128.2:c.141-326_141-320del NM_004128.2:c.141-324_141-320del NM_004128.2:c.141-323_141-320del NM_004128.2:c.141-322_141-320del NM_004128.2:c.141-321_141-320del NM_004128.2:c.141-320del NM_004128.2:c.141-320dup NM_004128.2:c.141-321_141-320dup NM_004128.2:c.141-322_141-320dup NM_004128.2:c.141-323_141-320dup NM_004128.2:c.141-327_141-320dup
GTF2F2 transcript NM_004128.3:c.141-336= NM_004128.3:c.141-326_141-320del NM_004128.3:c.141-324_141-320del NM_004128.3:c.141-323_141-320del NM_004128.3:c.141-322_141-320del NM_004128.3:c.141-321_141-320del NM_004128.3:c.141-320del NM_004128.3:c.141-320dup NM_004128.3:c.141-321_141-320dup NM_004128.3:c.141-322_141-320dup NM_004128.3:c.141-323_141-320dup NM_004128.3:c.141-327_141-320dup
GTF2F2 transcript variant X1 XM_011535052.4:c.141-336= XM_011535052.4:c.141-326_141-320del XM_011535052.4:c.141-324_141-320del XM_011535052.4:c.141-323_141-320del XM_011535052.4:c.141-322_141-320del XM_011535052.4:c.141-321_141-320del XM_011535052.4:c.141-320del XM_011535052.4:c.141-320dup XM_011535052.4:c.141-321_141-320dup XM_011535052.4:c.141-322_141-320dup XM_011535052.4:c.141-323_141-320dup XM_011535052.4:c.141-327_141-320dup
GTF2F2 transcript variant X3 XM_011535053.4:c.141-336= XM_011535053.4:c.141-326_141-320del XM_011535053.4:c.141-324_141-320del XM_011535053.4:c.141-323_141-320del XM_011535053.4:c.141-322_141-320del XM_011535053.4:c.141-321_141-320del XM_011535053.4:c.141-320del XM_011535053.4:c.141-320dup XM_011535053.4:c.141-321_141-320dup XM_011535053.4:c.141-322_141-320dup XM_011535053.4:c.141-323_141-320dup XM_011535053.4:c.141-327_141-320dup
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#.

44 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40308298 Mar 15, 2016 (147)
2 PJP ss294795497 May 09, 2011 (138)
3 1000GENOMES ss1373114337 Aug 21, 2014 (142)
4 MCHAISSO ss3065518532 Nov 08, 2017 (151)
5 EVA_DECODE ss3695220637 Jul 13, 2019 (153)
6 EVA_DECODE ss3695220638 Jul 13, 2019 (153)
7 EVA_DECODE ss3695220639 Jul 13, 2019 (153)
8 EVA_DECODE ss3695220640 Jul 13, 2019 (153)
9 EVA_DECODE ss3695220641 Jul 13, 2019 (153)
10 EVA_DECODE ss3695220642 Jul 13, 2019 (153)
11 ACPOP ss3739716096 Jul 13, 2019 (153)
12 ACPOP ss3739716097 Jul 13, 2019 (153)
13 KHV_HUMAN_GENOMES ss3816751681 Jul 13, 2019 (153)
14 EVA ss3833528702 Apr 27, 2020 (154)
15 EVA ss3840344914 Apr 27, 2020 (154)
16 EVA ss3845830506 Apr 27, 2020 (154)
17 KOGIC ss3973494185 Apr 27, 2020 (154)
18 KOGIC ss3973494186 Apr 27, 2020 (154)
19 KOGIC ss3973494187 Apr 27, 2020 (154)
20 KOGIC ss3973494188 Apr 27, 2020 (154)
21 GNOMAD ss4265237198 Apr 26, 2021 (155)
22 GNOMAD ss4265237199 Apr 26, 2021 (155)
23 GNOMAD ss4265237200 Apr 26, 2021 (155)
24 GNOMAD ss4265237201 Apr 26, 2021 (155)
25 GNOMAD ss4265237202 Apr 26, 2021 (155)
26 GNOMAD ss4265237203 Apr 26, 2021 (155)
27 GNOMAD ss4265237204 Apr 26, 2021 (155)
28 TOMMO_GENOMICS ss5209836263 Apr 26, 2021 (155)
29 TOMMO_GENOMICS ss5209836264 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5209836265 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5209836266 Apr 26, 2021 (155)
32 1000G_HIGH_COVERAGE ss5293611456 Oct 16, 2022 (156)
33 1000G_HIGH_COVERAGE ss5293611457 Oct 16, 2022 (156)
34 1000G_HIGH_COVERAGE ss5293611459 Oct 16, 2022 (156)
35 HUGCELL_USP ss5487987258 Oct 16, 2022 (156)
36 HUGCELL_USP ss5487987259 Oct 16, 2022 (156)
37 HUGCELL_USP ss5487987260 Oct 16, 2022 (156)
38 HUGCELL_USP ss5487987262 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5761665143 Oct 16, 2022 (156)
40 TOMMO_GENOMICS ss5761665144 Oct 16, 2022 (156)
41 TOMMO_GENOMICS ss5761665145 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5761665146 Oct 16, 2022 (156)
43 EVA ss5850714366 Oct 16, 2022 (156)
44 EVA ss5980789795 Oct 16, 2022 (156)
45 1000Genomes NC_000013.10 - 45723569 Oct 12, 2018 (152)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

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

Submission ignored due to conflicting rows:
Row 429705966 (NC_000013.11:45149433::A 339/83680)
Row 429705967 (NC_000013.11:45149433::AA 8/84422)
Row 429705968 (NC_000013.11:45149433::AAA 8/84470)...

- Apr 26, 2021 (155)
54 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872186 (NC_000013.11:45149435:A: 160/1792)
Row 29872187 (NC_000013.11:45149436::A 197/1792)
Row 29872188 (NC_000013.11:45149434:AA: 83/1792)...

- Apr 27, 2020 (154)
55 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872186 (NC_000013.11:45149435:A: 160/1792)
Row 29872187 (NC_000013.11:45149436::A 197/1792)
Row 29872188 (NC_000013.11:45149434:AA: 83/1792)...

- Apr 27, 2020 (154)
56 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872186 (NC_000013.11:45149435:A: 160/1792)
Row 29872187 (NC_000013.11:45149436::A 197/1792)
Row 29872188 (NC_000013.11:45149434:AA: 83/1792)...

- Apr 27, 2020 (154)
57 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872186 (NC_000013.11:45149435:A: 160/1792)
Row 29872187 (NC_000013.11:45149436::A 197/1792)
Row 29872188 (NC_000013.11:45149434:AA: 83/1792)...

- Apr 27, 2020 (154)
58 Northern Sweden

Submission ignored due to conflicting rows:
Row 13000961 (NC_000013.10:45723568:AA: 29/362)
Row 13000962 (NC_000013.10:45723568::AAAAAAAA 3/362)

- Jul 13, 2019 (153)
59 Northern Sweden

Submission ignored due to conflicting rows:
Row 13000961 (NC_000013.10:45723568:AA: 29/362)
Row 13000962 (NC_000013.10:45723568::AAAAAAAA 3/362)

- Jul 13, 2019 (153)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 67805570 (NC_000013.10:45723568:AA: 469/16758)
Row 67805571 (NC_000013.10:45723568:A: 217/16758)
Row 67805572 (NC_000013.10:45723568:AAA: 80/16758)...

- Apr 26, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 67805570 (NC_000013.10:45723568:AA: 469/16758)
Row 67805571 (NC_000013.10:45723568:A: 217/16758)
Row 67805572 (NC_000013.10:45723568:AAA: 80/16758)...

- Apr 26, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 67805570 (NC_000013.10:45723568:AA: 469/16758)
Row 67805571 (NC_000013.10:45723568:A: 217/16758)
Row 67805572 (NC_000013.10:45723568:AAA: 80/16758)...

- Apr 26, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 67805570 (NC_000013.10:45723568:AA: 469/16758)
Row 67805571 (NC_000013.10:45723568:A: 217/16758)
Row 67805572 (NC_000013.10:45723568:AAA: 80/16758)...

- Apr 26, 2021 (155)
64 14KJPN

Submission ignored due to conflicting rows:
Row 95502247 (NC_000013.11:45149433:AA: 757/28206)
Row 95502248 (NC_000013.11:45149433:A: 352/28206)
Row 95502249 (NC_000013.11:45149433:AAA: 143/28206)...

- Oct 16, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 95502247 (NC_000013.11:45149433:AA: 757/28206)
Row 95502248 (NC_000013.11:45149433:A: 352/28206)
Row 95502249 (NC_000013.11:45149433:AAA: 143/28206)...

- Oct 16, 2022 (156)
66 14KJPN

Submission ignored due to conflicting rows:
Row 95502247 (NC_000013.11:45149433:AA: 757/28206)
Row 95502248 (NC_000013.11:45149433:A: 352/28206)
Row 95502249 (NC_000013.11:45149433:AAA: 143/28206)...

- Oct 16, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 95502247 (NC_000013.11:45149433:AA: 757/28206)
Row 95502248 (NC_000013.11:45149433:A: 352/28206)
Row 95502249 (NC_000013.11:45149433:AAA: 143/28206)...

- Oct 16, 2022 (156)
68 ALFA NC_000013.11 - 45149434 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs869073608 Jul 19, 2016 (147)
rs71776117 Oct 12, 2011 (135)
rs71867393 Apr 25, 2013 (138)
rs143427946 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss3695220642 NC_000013.11:45149433:AAAAA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4265237204 NC_000013.11:45149433:AAAA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3695220641 NC_000013.11:45149434:AAAA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss5209836265 NC_000013.10:45723568:AAA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3973494188, ss4265237203, ss5487987262, ss5761665145 NC_000013.11:45149433:AAA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3695220640 NC_000013.11:45149435:AAA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss294795497 NC_000013.9:44621583:AA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3739716096, ss3840344914, ss5209836263, ss5980789795 NC_000013.10:45723568:AA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3065518532, ss3845830506, ss4265237202, ss5293611456, ss5487987258, ss5761665143 NC_000013.11:45149433:AA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3973494187 NC_000013.11:45149434:AA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3695220639 NC_000013.11:45149436:AA: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
60949463, ss1373114337, ss3833528702, ss5209836264 NC_000013.10:45723568:A: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3816751681, ss5293611457, ss5487987259, ss5761665144 NC_000013.11:45149433:A: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3973494185 NC_000013.11:45149435:A: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3695220638 NC_000013.11:45149437:A: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss40308298 NT_024524.14:26703568:A: NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5209836266 NC_000013.10:45723568::A NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4265237198, ss5293611459, ss5487987260, ss5761665146, ss5850714366 NC_000013.11:45149433::A NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3973494186 NC_000013.11:45149436::A NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3695220637 NC_000013.11:45149438::A NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4265237199 NC_000013.11:45149433::AA NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4265237200 NC_000013.11:45149433::AAA NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4265237201 NC_000013.11:45149433::AAAA NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
7244333886 NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3739716097 NC_000013.10:45723568::AAAAAAAA NC_000013.11:45149433:AAAAAAAAAAAA…

NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs34165758

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