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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.

rs34610126

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:139614062-139614081 (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)12 / del(A)8 / del(A)6 / del…

del(A)12 / del(A)8 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.000011 (3/264690, TOPMED)
del(A)12=0.0000 (0/4762, ALFA)
del(A)8=0.0000 (0/4762, ALFA) (+ 6 more)
delAAA=0.0000 (0/4762, ALFA)
delAA=0.0000 (0/4762, ALFA)
delA=0.0000 (0/4762, ALFA)
dupA=0.0000 (0/4762, ALFA)
dupAA=0.0000 (0/4762, ALFA)
dupAAA=0.0000 (0/4762, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBE2D2 : 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 4762 AAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 3756 AAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 276 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 276 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 80 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 64 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 52 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 402 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 20 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 176 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=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
TopMed Global Study-wide 264690 (A)20=0.999989 del(A)8=0.000011
Allele Frequency Aggregator Total Global 4762 (A)20=1.0000 del(A)12=0.0000, del(A)8=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator European Sub 3756 (A)20=1.0000 del(A)12=0.0000, del(A)8=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 402 (A)20=1.000 del(A)12=0.000, del(A)8=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator African Sub 276 (A)20=1.000 del(A)12=0.000, del(A)8=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 176 (A)20=1.000 del(A)12=0.000, del(A)8=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Asian Sub 80 (A)20=1.00 del(A)12=0.00, del(A)8=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 52 (A)20=1.00 del(A)12=0.00, del(A)8=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 20 (A)20=1.00 del(A)12=0.00, del(A)8=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
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 5 NC_000005.10:g.139614070_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614074_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614076_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614077_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614078_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614079_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614080_139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614081del
GRCh38.p14 chr 5 NC_000005.10:g.139614081dup
GRCh38.p14 chr 5 NC_000005.10:g.139614080_139614081dup
GRCh38.p14 chr 5 NC_000005.10:g.139614079_139614081dup
GRCh38.p14 chr 5 NC_000005.10:g.139614078_139614081dup
GRCh37.p13 chr 5 NC_000005.9:g.138993655_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993659_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993661_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993662_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993663_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993664_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993665_138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993666del
GRCh37.p13 chr 5 NC_000005.9:g.138993666dup
GRCh37.p13 chr 5 NC_000005.9:g.138993665_138993666dup
GRCh37.p13 chr 5 NC_000005.9:g.138993664_138993666dup
GRCh37.p13 chr 5 NC_000005.9:g.138993663_138993666dup
Gene: UBE2D2, ubiquitin conjugating enzyme E2 D2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UBE2D2 transcript variant 1 NM_003339.3:c.89-516_89-5…

NM_003339.3:c.89-516_89-505del

N/A Intron Variant
UBE2D2 transcript variant 2 NM_181838.2:c.2-516_2-505…

NM_181838.2:c.2-516_2-505del

N/A Intron Variant
UBE2D2 transcript variant X1 XM_047417690.1:c.167-516_…

XM_047417690.1:c.167-516_167-505del

N/A Intron Variant
UBE2D2 transcript variant X2 XM_047417691.1:c.2-516_2-…

XM_047417691.1:c.2-516_2-505del

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 (A)20= del(A)12 del(A)8 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4
GRCh38.p14 chr 5 NC_000005.10:g.139614062_139614081= NC_000005.10:g.139614070_139614081del NC_000005.10:g.139614074_139614081del NC_000005.10:g.139614076_139614081del NC_000005.10:g.139614077_139614081del NC_000005.10:g.139614078_139614081del NC_000005.10:g.139614079_139614081del NC_000005.10:g.139614080_139614081del NC_000005.10:g.139614081del NC_000005.10:g.139614081dup NC_000005.10:g.139614080_139614081dup NC_000005.10:g.139614079_139614081dup NC_000005.10:g.139614078_139614081dup
GRCh37.p13 chr 5 NC_000005.9:g.138993647_138993666= NC_000005.9:g.138993655_138993666del NC_000005.9:g.138993659_138993666del NC_000005.9:g.138993661_138993666del NC_000005.9:g.138993662_138993666del NC_000005.9:g.138993663_138993666del NC_000005.9:g.138993664_138993666del NC_000005.9:g.138993665_138993666del NC_000005.9:g.138993666del NC_000005.9:g.138993666dup NC_000005.9:g.138993665_138993666dup NC_000005.9:g.138993664_138993666dup NC_000005.9:g.138993663_138993666dup
UBE2D2 transcript variant 1 NM_003339.2:c.89-524= NM_003339.2:c.89-516_89-505del NM_003339.2:c.89-512_89-505del NM_003339.2:c.89-510_89-505del NM_003339.2:c.89-509_89-505del NM_003339.2:c.89-508_89-505del NM_003339.2:c.89-507_89-505del NM_003339.2:c.89-506_89-505del NM_003339.2:c.89-505del NM_003339.2:c.89-505dup NM_003339.2:c.89-506_89-505dup NM_003339.2:c.89-507_89-505dup NM_003339.2:c.89-508_89-505dup
UBE2D2 transcript variant 1 NM_003339.3:c.89-524= NM_003339.3:c.89-516_89-505del NM_003339.3:c.89-512_89-505del NM_003339.3:c.89-510_89-505del NM_003339.3:c.89-509_89-505del NM_003339.3:c.89-508_89-505del NM_003339.3:c.89-507_89-505del NM_003339.3:c.89-506_89-505del NM_003339.3:c.89-505del NM_003339.3:c.89-505dup NM_003339.3:c.89-506_89-505dup NM_003339.3:c.89-507_89-505dup NM_003339.3:c.89-508_89-505dup
UBE2D2 transcript variant 2 NM_181838.1:c.2-524= NM_181838.1:c.2-516_2-505del NM_181838.1:c.2-512_2-505del NM_181838.1:c.2-510_2-505del NM_181838.1:c.2-509_2-505del NM_181838.1:c.2-508_2-505del NM_181838.1:c.2-507_2-505del NM_181838.1:c.2-506_2-505del NM_181838.1:c.2-505del NM_181838.1:c.2-505dup NM_181838.1:c.2-506_2-505dup NM_181838.1:c.2-507_2-505dup NM_181838.1:c.2-508_2-505dup
UBE2D2 transcript variant 2 NM_181838.2:c.2-524= NM_181838.2:c.2-516_2-505del NM_181838.2:c.2-512_2-505del NM_181838.2:c.2-510_2-505del NM_181838.2:c.2-509_2-505del NM_181838.2:c.2-508_2-505del NM_181838.2:c.2-507_2-505del NM_181838.2:c.2-506_2-505del NM_181838.2:c.2-505del NM_181838.2:c.2-505dup NM_181838.2:c.2-506_2-505dup NM_181838.2:c.2-507_2-505dup NM_181838.2:c.2-508_2-505dup
UBE2D2 transcript variant X1 XM_047417690.1:c.167-524= XM_047417690.1:c.167-516_167-505del XM_047417690.1:c.167-512_167-505del XM_047417690.1:c.167-510_167-505del XM_047417690.1:c.167-509_167-505del XM_047417690.1:c.167-508_167-505del XM_047417690.1:c.167-507_167-505del XM_047417690.1:c.167-506_167-505del XM_047417690.1:c.167-505del XM_047417690.1:c.167-505dup XM_047417690.1:c.167-506_167-505dup XM_047417690.1:c.167-507_167-505dup XM_047417690.1:c.167-508_167-505dup
UBE2D2 transcript variant X2 XM_047417691.1:c.2-524= XM_047417691.1:c.2-516_2-505del XM_047417691.1:c.2-512_2-505del XM_047417691.1:c.2-510_2-505del XM_047417691.1:c.2-509_2-505del XM_047417691.1:c.2-508_2-505del XM_047417691.1:c.2-507_2-505del XM_047417691.1:c.2-506_2-505del XM_047417691.1:c.2-505del XM_047417691.1:c.2-505dup XM_047417691.1:c.2-506_2-505dup XM_047417691.1:c.2-507_2-505dup XM_047417691.1:c.2-508_2-505dup
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#.

40 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42576491 Mar 14, 2006 (126)
2 HUMANGENOME_JCVI ss95408600 Feb 06, 2009 (130)
3 HUMANGENOME_JCVI ss98683095 Feb 06, 2009 (130)
4 TISHKOFF ss554224474 Apr 25, 2013 (138)
5 URBANLAB ss3648180959 Oct 12, 2018 (152)
6 EVA ss3829530822 Apr 26, 2020 (154)
7 KOGIC ss3957752112 Apr 26, 2020 (154)
8 KOGIC ss3957752113 Apr 26, 2020 (154)
9 KOGIC ss3957752114 Apr 26, 2020 (154)
10 GNOMAD ss4130310309 Apr 26, 2021 (155)
11 GNOMAD ss4130310310 Apr 26, 2021 (155)
12 GNOMAD ss4130310311 Apr 26, 2021 (155)
13 GNOMAD ss4130310312 Apr 26, 2021 (155)
14 GNOMAD ss4130310313 Apr 26, 2021 (155)
15 GNOMAD ss4130310314 Apr 26, 2021 (155)
16 GNOMAD ss4130310315 Apr 26, 2021 (155)
17 GNOMAD ss4130310316 Apr 26, 2021 (155)
18 GNOMAD ss4130310317 Apr 26, 2021 (155)
19 GNOMAD ss4130310318 Apr 26, 2021 (155)
20 GNOMAD ss4130310319 Apr 26, 2021 (155)
21 TOPMED ss4680681350 Apr 26, 2021 (155)
22 TOMMO_GENOMICS ss5174394862 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5174394863 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5174394864 Apr 26, 2021 (155)
25 TOMMO_GENOMICS ss5174394865 Apr 26, 2021 (155)
26 1000G_HIGH_COVERAGE ss5266038791 Oct 13, 2022 (156)
27 1000G_HIGH_COVERAGE ss5266038793 Oct 13, 2022 (156)
28 1000G_HIGH_COVERAGE ss5266038794 Oct 13, 2022 (156)
29 1000G_HIGH_COVERAGE ss5266038795 Oct 13, 2022 (156)
30 1000G_HIGH_COVERAGE ss5266038796 Oct 13, 2022 (156)
31 HUGCELL_USP ss5463985330 Oct 13, 2022 (156)
32 HUGCELL_USP ss5463985331 Oct 13, 2022 (156)
33 HUGCELL_USP ss5463985332 Oct 13, 2022 (156)
34 HUGCELL_USP ss5463985333 Oct 13, 2022 (156)
35 HUGCELL_USP ss5463985334 Oct 13, 2022 (156)
36 TOMMO_GENOMICS ss5711548516 Oct 13, 2022 (156)
37 TOMMO_GENOMICS ss5711548517 Oct 13, 2022 (156)
38 TOMMO_GENOMICS ss5711548519 Oct 13, 2022 (156)
39 TOMMO_GENOMICS ss5711548520 Oct 13, 2022 (156)
40 EVA ss5896547938 Oct 13, 2022 (156)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 206026854 (NC_000005.10:139614061::A 465/81512)
Row 206026855 (NC_000005.10:139614061::AA 322/81724)
Row 206026856 (NC_000005.10:139614061::AAA 8/81792)...

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

Submission ignored due to conflicting rows:
Row 14130113 (NC_000005.10:139614062:A: 337/1752)
Row 14130114 (NC_000005.10:139614063::A 190/1752)
Row 14130115 (NC_000005.10:139614061:AA: 39/1752)

- Apr 26, 2020 (154)
54 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14130113 (NC_000005.10:139614062:A: 337/1752)
Row 14130114 (NC_000005.10:139614063::A 190/1752)
Row 14130115 (NC_000005.10:139614061:AA: 39/1752)

- Apr 26, 2020 (154)
55 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14130113 (NC_000005.10:139614062:A: 337/1752)
Row 14130114 (NC_000005.10:139614063::A 190/1752)
Row 14130115 (NC_000005.10:139614061:AA: 39/1752)

- Apr 26, 2020 (154)
56 8.3KJPN

Submission ignored due to conflicting rows:
Row 32364169 (NC_000005.9:138993646:A: 2021/16722)
Row 32364170 (NC_000005.9:138993646::A 42/16722)
Row 32364171 (NC_000005.9:138993646:AA: 7/16722)...

- Apr 26, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 32364169 (NC_000005.9:138993646:A: 2021/16722)
Row 32364170 (NC_000005.9:138993646::A 42/16722)
Row 32364171 (NC_000005.9:138993646:AA: 7/16722)...

- Apr 26, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 32364169 (NC_000005.9:138993646:A: 2021/16722)
Row 32364170 (NC_000005.9:138993646::A 42/16722)
Row 32364171 (NC_000005.9:138993646:AA: 7/16722)...

- Apr 26, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 32364169 (NC_000005.9:138993646:A: 2021/16722)
Row 32364170 (NC_000005.9:138993646::A 42/16722)
Row 32364171 (NC_000005.9:138993646:AA: 7/16722)...

- Apr 26, 2021 (155)
60 14KJPN

Submission ignored due to conflicting rows:
Row 45385620 (NC_000005.10:139614061:A: 3760/28250)
Row 45385621 (NC_000005.10:139614061::A 42/28250)
Row 45385623 (NC_000005.10:139614061:AA: 10/28250)...

- Oct 13, 2022 (156)
61 14KJPN

Submission ignored due to conflicting rows:
Row 45385620 (NC_000005.10:139614061:A: 3760/28250)
Row 45385621 (NC_000005.10:139614061::A 42/28250)
Row 45385623 (NC_000005.10:139614061:AA: 10/28250)...

- Oct 13, 2022 (156)
62 14KJPN

Submission ignored due to conflicting rows:
Row 45385620 (NC_000005.10:139614061:A: 3760/28250)
Row 45385621 (NC_000005.10:139614061::A 42/28250)
Row 45385623 (NC_000005.10:139614061:AA: 10/28250)...

- Oct 13, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 45385620 (NC_000005.10:139614061:A: 3760/28250)
Row 45385621 (NC_000005.10:139614061::A 42/28250)
Row 45385623 (NC_000005.10:139614061:AA: 10/28250)...

- Oct 13, 2022 (156)
64 TopMed NC_000005.10 - 139614062 Apr 26, 2021 (155)
65 ALFA NC_000005.10 - 139614062 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
ss554224474 NC_000005.9:138993654:AAAAAAAAAAAA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4130310319, ss5266038794, ss5463985333, ss5896547938 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAA:

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
518058907, ss4130310318, ss4680681350 NC_000005.10:139614061:AAAAAAAA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4130310317 NC_000005.10:139614061:AAAAAA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4130310316 NC_000005.10:139614061:AAAAA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4130310315, ss5711548520 NC_000005.10:139614061:AAAA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4130310314, ss5463985334 NC_000005.10:139614061:AAA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5174394864 NC_000005.9:138993646:AA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3957752114, ss4130310313, ss5266038793, ss5463985332, ss5711548519 NC_000005.10:139614061:AA: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3829530822, ss5174394862 NC_000005.9:138993646:A: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3648180959, ss5266038791, ss5463985331, ss5711548516 NC_000005.10:139614061:A: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3957752112 NC_000005.10:139614062:A: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss42576491, ss95408600, ss98683095 NT_029289.11:156592:A: NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5174394863 NC_000005.9:138993646::A NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4130310309, ss5266038795, ss5463985330, ss5711548517 NC_000005.10:139614061::A NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3957752113 NC_000005.10:139614063::A NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5174394865 NC_000005.9:138993646::AA NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130310310, ss5266038796 NC_000005.10:139614061::AA NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130310311 NC_000005.10:139614061::AAA NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
11408850618 NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130310312 NC_000005.10:139614061::AAAA NC_000005.10:139614061:AAAAAAAAAAA…

NC_000005.10:139614061:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(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 rs34610126

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