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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.

rs78765214

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:63382199-63382209 (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
delAAA / delAA / delA / dupA / dup…

delAAA / delAA / delA / dupA / dupAA

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.000004 (1/264690, TOPMED)
dupA=0.06978 (1920/27516, ALFA)
(A)11=0.138 (29/210, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC22A9 : Frameshift 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 27516 AAAAAAAAAAA=0.91056 AAAAAAAAAA=0.01821, AAAAAAAAAAAA=0.06978, AAAAAAAAAAAAA=0.00145 0.854808 0.0 0.145192 32
European Sub 20218 AAAAAAAAAAA=0.91997 AAAAAAAAAA=0.01711, AAAAAAAAAAAA=0.06153, AAAAAAAAAAAAA=0.00138 0.872214 0.0 0.127786 24
African Sub 3500 AAAAAAAAAAA=0.9520 AAAAAAAAAA=0.0069, AAAAAAAAAAAA=0.0403, AAAAAAAAAAAAA=0.0009 0.918166 0.0 0.081834 2
African Others Sub 122 AAAAAAAAAAA=0.975 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.025, AAAAAAAAAAAAA=0.000 0.95082 0.0 0.04918 0
African American Sub 3378 AAAAAAAAAAA=0.9512 AAAAAAAAAA=0.0071, AAAAAAAAAAAA=0.0409, AAAAAAAAAAAAA=0.0009 0.916968 0.0 0.083032 2
Asian Sub 168 AAAAAAAAAAA=0.911 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.083, AAAAAAAAAAAAA=0.006 0.831325 0.0 0.168675 0
East Asian Sub 112 AAAAAAAAAAA=0.938 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.054, AAAAAAAAAAAAA=0.009 0.890909 0.0 0.109091 0
Other Asian Sub 56 AAAAAAAAAAA=0.86 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.14, AAAAAAAAAAAAA=0.00 0.714286 0.0 0.285714 0
Latin American 1 Sub 146 AAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 608 AAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 96 AAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 2780 AAAAAAAAAAA=0.7626 AAAAAAAAAA=0.0471, AAAAAAAAAAAA=0.1874, AAAAAAAAAAAAA=0.0029 0.584333 0.0 0.415667 32


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 -

No frequency provided

dupAA=0.000004
Allele Frequency Aggregator Total Global 27516 (A)11=0.91056 delA=0.01821, dupA=0.06978, dupAA=0.00145
Allele Frequency Aggregator European Sub 20218 (A)11=0.91997 delA=0.01711, dupA=0.06153, dupAA=0.00138
Allele Frequency Aggregator African Sub 3500 (A)11=0.9520 delA=0.0069, dupA=0.0403, dupAA=0.0009
Allele Frequency Aggregator Other Sub 2780 (A)11=0.7626 delA=0.0471, dupA=0.1874, dupAA=0.0029
Allele Frequency Aggregator Latin American 2 Sub 608 (A)11=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Asian Sub 168 (A)11=0.911 delA=0.000, dupA=0.083, dupAA=0.006
Allele Frequency Aggregator Latin American 1 Sub 146 (A)11=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator South Asian Sub 96 (A)11=1.00 delA=0.00, dupA=0.00, dupAA=0.00
1000Genomes Global Study-wide 210 (A)11=0.138 delA=0.862
1000Genomes African Sub 95 (A)11=0.09 delA=0.91
1000Genomes South Asian Sub 65 (A)11=0.12 delA=0.88
1000Genomes East Asian Sub 18 (A)11=0.39 delA=0.61
1000Genomes Europe Sub 17 (A)11=0.18 delA=0.82
1000Genomes American Sub 15 (A)11=0.13 delA=0.87
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 11 NC_000011.10:g.63382207_63382209del
GRCh38.p14 chr 11 NC_000011.10:g.63382208_63382209del
GRCh38.p14 chr 11 NC_000011.10:g.63382209del
GRCh38.p14 chr 11 NC_000011.10:g.63382209dup
GRCh38.p14 chr 11 NC_000011.10:g.63382208_63382209dup
GRCh37.p13 chr 11 NC_000011.9:g.63149679_63149681del
GRCh37.p13 chr 11 NC_000011.9:g.63149680_63149681del
GRCh37.p13 chr 11 NC_000011.9:g.63149681del
GRCh37.p13 chr 11 NC_000011.9:g.63149681dup
GRCh37.p13 chr 11 NC_000011.9:g.63149680_63149681dup
Gene: SLC22A9, solute carrier family 22 member 9 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC22A9 transcript NM_080866.3:c.1003_1005del KKK [AAA] > KK [] Coding Sequence Variant
organic anion transporter 7 NP_543142.2:p.Lys335del KKK (LysLysLys) > KK (Lys…

KKK (LysLysLys) > KK (LysLys)

Inframe Deletion
SLC22A9 transcript NM_080866.3:c.1004_1005del K [AA] > T [A] Coding Sequence Variant
organic anion transporter 7 NP_543142.2:p.Lys335fs K (Lys) > T (Thr) Frameshift Variant
SLC22A9 transcript NM_080866.3:c.1005del K [AAA] > N [AA] Coding Sequence Variant
organic anion transporter 7 NP_543142.2:p.Lys335fs K (Lys) > N (Asn) Frameshift Variant
SLC22A9 transcript NM_080866.3:c.1005dup P [CCT] > T [ACCT] Coding Sequence Variant
organic anion transporter 7 NP_543142.2:p.Pro336fs P (Pro) > T (Thr) Frameshift Variant
SLC22A9 transcript NM_080866.3:c.1004_1005dup P [CCT] > N [AACCT] Coding Sequence Variant
organic anion transporter 7 NP_543142.2:p.Pro336fs P (Pro) > N (Asn) Frameshift Variant
SLC22A9 transcript variant X1 XM_017017159.3:c.1003_100…

XM_017017159.3:c.1003_1005del

KKK [AAA] > KK [] Coding Sequence Variant
organic anion transporter 7 isoform X1 XP_016872648.1:p.Lys335del KKK (LysLysLys) > KK (Lys…

KKK (LysLysLys) > KK (LysLys)

Inframe Deletion
SLC22A9 transcript variant X1 XM_017017159.3:c.1004_100…

XM_017017159.3:c.1004_1005del

K [AA] > T [A] Coding Sequence Variant
organic anion transporter 7 isoform X1 XP_016872648.1:p.Lys335fs K (Lys) > T (Thr) Frameshift Variant
SLC22A9 transcript variant X1 XM_017017159.3:c.1005del K [AAA] > N [AA] Coding Sequence Variant
organic anion transporter 7 isoform X1 XP_016872648.1:p.Lys335fs K (Lys) > N (Asn) Frameshift Variant
SLC22A9 transcript variant X1 XM_017017159.3:c.1005dup P [CCT] > T [ACCT] Coding Sequence Variant
organic anion transporter 7 isoform X1 XP_016872648.1:p.Pro336fs P (Pro) > T (Thr) Frameshift Variant
SLC22A9 transcript variant X1 XM_017017159.3:c.1004_100…

XM_017017159.3:c.1004_1005dup

P [CCT] > N [AACCT] Coding Sequence Variant
organic anion transporter 7 isoform X1 XP_016872648.1:p.Pro336fs P (Pro) > N (Asn) Frameshift Variant
SLC22A9 transcript variant X2 XM_047426335.1:c.310_312d…

XM_047426335.1:c.310_312del

KKK [AAA] > KK [] Coding Sequence Variant
organic anion transporter 7 isoform X2 XP_047282291.1:p.Lys104del KKK (LysLysLys) > KK (Lys…

KKK (LysLysLys) > KK (LysLys)

Inframe Deletion
SLC22A9 transcript variant X2 XM_047426335.1:c.311_312d…

XM_047426335.1:c.311_312del

K [AA] > T [A] Coding Sequence Variant
organic anion transporter 7 isoform X2 XP_047282291.1:p.Lys104fs K (Lys) > T (Thr) Frameshift Variant
SLC22A9 transcript variant X2 XM_047426335.1:c.312del K [AAA] > N [AA] Coding Sequence Variant
organic anion transporter 7 isoform X2 XP_047282291.1:p.Lys104fs K (Lys) > N (Asn) Frameshift Variant
SLC22A9 transcript variant X2 XM_047426335.1:c.312dup P [CCT] > T [ACCT] Coding Sequence Variant
organic anion transporter 7 isoform X2 XP_047282291.1:p.Pro105fs P (Pro) > T (Thr) Frameshift Variant
SLC22A9 transcript variant X2 XM_047426335.1:c.311_312d…

XM_047426335.1:c.311_312dup

P [CCT] > N [AACCT] Coding Sequence Variant
organic anion transporter 7 isoform X2 XP_047282291.1:p.Pro105fs P (Pro) > N (Asn) Frameshift 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)11= delAAA delAA delA dupA dupAA
GRCh38.p14 chr 11 NC_000011.10:g.63382199_63382209= NC_000011.10:g.63382207_63382209del NC_000011.10:g.63382208_63382209del NC_000011.10:g.63382209del NC_000011.10:g.63382209dup NC_000011.10:g.63382208_63382209dup
GRCh37.p13 chr 11 NC_000011.9:g.63149671_63149681= NC_000011.9:g.63149679_63149681del NC_000011.9:g.63149680_63149681del NC_000011.9:g.63149681del NC_000011.9:g.63149681dup NC_000011.9:g.63149680_63149681dup
SLC22A9 transcript NM_080866.3:c.995_1005= NM_080866.3:c.1003_1005del NM_080866.3:c.1004_1005del NM_080866.3:c.1005del NM_080866.3:c.1005dup NM_080866.3:c.1004_1005dup
SLC22A9 transcript NM_080866.2:c.995_1005= NM_080866.2:c.1003_1005del NM_080866.2:c.1004_1005del NM_080866.2:c.1005del NM_080866.2:c.1005dup NM_080866.2:c.1004_1005dup
SLC22A9 transcript variant X1 XM_017017159.3:c.995_1005= XM_017017159.3:c.1003_1005del XM_017017159.3:c.1004_1005del XM_017017159.3:c.1005del XM_017017159.3:c.1005dup XM_017017159.3:c.1004_1005dup
SLC22A9 transcript variant X1 XM_017017159.2:c.995_1005= XM_017017159.2:c.1003_1005del XM_017017159.2:c.1004_1005del XM_017017159.2:c.1005del XM_017017159.2:c.1005dup XM_017017159.2:c.1004_1005dup
SLC22A9 transcript variant X1 XM_017017159.1:c.995_1005= XM_017017159.1:c.1003_1005del XM_017017159.1:c.1004_1005del XM_017017159.1:c.1005del XM_017017159.1:c.1005dup XM_017017159.1:c.1004_1005dup
SLC22A9 transcript variant X2 XM_047426335.1:c.302_312= XM_047426335.1:c.310_312del XM_047426335.1:c.311_312del XM_047426335.1:c.312del XM_047426335.1:c.312dup XM_047426335.1:c.311_312dup
organic anion transporter 7 NP_543142.2:p.Gln332_Lys335= NP_543142.2:p.Lys335del NP_543142.2:p.Lys335fs NP_543142.2:p.Lys335fs NP_543142.2:p.Pro336fs NP_543142.2:p.Pro336fs
organic anion transporter 7 isoform X1 XP_016872648.1:p.Gln332_Lys335= XP_016872648.1:p.Lys335del XP_016872648.1:p.Lys335fs XP_016872648.1:p.Lys335fs XP_016872648.1:p.Pro336fs XP_016872648.1:p.Pro336fs
organic anion transporter 7 isoform X2 XP_047282291.1:p.Gln101_Lys104= XP_047282291.1:p.Lys104del XP_047282291.1:p.Lys104fs XP_047282291.1:p.Lys104fs XP_047282291.1:p.Pro105fs XP_047282291.1:p.Pro105fs
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#.

33 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SEATTLESEQ ss159746722 Dec 01, 2009 (131)
2 1000GENOMES ss1371005412 Aug 21, 2014 (142)
3 1000GENOMES ss1371005415 Aug 21, 2014 (142)
4 EVA_EXAC ss1711974544 Apr 01, 2015 (144)
5 EVA_EXAC ss1711974545 Apr 01, 2015 (144)
6 EVA_EXAC ss1711974546 Apr 01, 2015 (144)
7 EVA_EXAC ss1711974547 Jan 10, 2018 (151)
8 ILLUMINA ss2710736943 Nov 08, 2017 (151)
9 SWEGEN ss3008216807 Nov 08, 2017 (151)
10 PACBIO ss3786973403 Jul 13, 2019 (153)
11 KHV_HUMAN_GENOMES ss3814730557 Jul 13, 2019 (153)
12 KHV_HUMAN_GENOMES ss3814730558 Jul 13, 2019 (153)
13 EVA ss3986529460 Apr 26, 2021 (155)
14 GNOMAD ss4236355764 Apr 26, 2021 (155)
15 GNOMAD ss4236355765 Apr 26, 2021 (155)
16 GNOMAD ss4236355766 Apr 26, 2021 (155)
17 TOPMED ss4887827840 Apr 26, 2021 (155)
18 TOMMO_GENOMICS ss5202313797 Apr 26, 2021 (155)
19 TOMMO_GENOMICS ss5202313798 Apr 26, 2021 (155)
20 TOMMO_GENOMICS ss5202313799 Apr 26, 2021 (155)
21 1000G_HIGH_COVERAGE ss5287677747 Oct 13, 2022 (156)
22 1000G_HIGH_COVERAGE ss5287677748 Oct 13, 2022 (156)
23 TRAN_CS_UWATERLOO ss5314432074 Oct 13, 2022 (156)
24 TRAN_CS_UWATERLOO ss5314432075 Oct 13, 2022 (156)
25 HUGCELL_USP ss5482826790 Oct 13, 2022 (156)
26 HUGCELL_USP ss5482826791 Oct 13, 2022 (156)
27 SANFORD_IMAGENETICS ss5651372492 Oct 13, 2022 (156)
28 TOMMO_GENOMICS ss5750291256 Oct 13, 2022 (156)
29 TOMMO_GENOMICS ss5750291257 Oct 13, 2022 (156)
30 TOMMO_GENOMICS ss5750291258 Oct 13, 2022 (156)
31 YY_MCH ss5812478203 Oct 13, 2022 (156)
32 EVA ss5936049242 Oct 13, 2022 (156)
33 EVA ss5936049243 Oct 13, 2022 (156)
34 1000Genomes NC_000011.9 - 63149671 Oct 12, 2018 (152)
35 ExAC

Submission ignored due to conflicting rows:
Row 691280 (NC_000011.9:63149670::AA 48/78382)
Row 691281 (NC_000011.9:63149670::A 7268/78382)
Row 691282 (NC_000011.9:63149670:A: 4329/78382)
Row 691283 (NC_000011.9:63149670:AA: 0/78382)

- Oct 12, 2018 (152)
36 ExAC

Submission ignored due to conflicting rows:
Row 691280 (NC_000011.9:63149670::AA 48/78382)
Row 691281 (NC_000011.9:63149670::A 7268/78382)
Row 691282 (NC_000011.9:63149670:A: 4329/78382)
Row 691283 (NC_000011.9:63149670:AA: 0/78382)

- Oct 12, 2018 (152)
37 ExAC

Submission ignored due to conflicting rows:
Row 691280 (NC_000011.9:63149670::AA 48/78382)
Row 691281 (NC_000011.9:63149670::A 7268/78382)
Row 691282 (NC_000011.9:63149670:A: 4329/78382)
Row 691283 (NC_000011.9:63149670:AA: 0/78382)

- Oct 12, 2018 (152)
38 ExAC

Submission ignored due to conflicting rows:
Row 691280 (NC_000011.9:63149670::AA 48/78382)
Row 691281 (NC_000011.9:63149670::A 7268/78382)
Row 691282 (NC_000011.9:63149670:A: 4329/78382)
Row 691283 (NC_000011.9:63149670:AA: 0/78382)

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

Submission ignored due to conflicting rows:
Row 381875735 (NC_000011.10:63382198::A 192/124500)
Row 381875736 (NC_000011.10:63382198::AA 1/124748)
Row 381875737 (NC_000011.10:63382198:A: 29/124644)

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

Submission ignored due to conflicting rows:
Row 381875735 (NC_000011.10:63382198::A 192/124500)
Row 381875736 (NC_000011.10:63382198::AA 1/124748)
Row 381875737 (NC_000011.10:63382198:A: 29/124644)

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

Submission ignored due to conflicting rows:
Row 381875735 (NC_000011.10:63382198::A 192/124500)
Row 381875736 (NC_000011.10:63382198::AA 1/124748)
Row 381875737 (NC_000011.10:63382198:A: 29/124644)

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

Submission ignored due to conflicting rows:
Row 8281893 (NC_000011.9:63149670::A 12106/98654)
Row 8281894 (NC_000011.9:63149670::AA 40/98654)
Row 8281895 (NC_000011.9:63149670:A: 2012/98654)...

- Jul 13, 2019 (153)
43 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8281893 (NC_000011.9:63149670::A 12106/98654)
Row 8281894 (NC_000011.9:63149670::AA 40/98654)
Row 8281895 (NC_000011.9:63149670:A: 2012/98654)...

- Jul 13, 2019 (153)
44 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8281893 (NC_000011.9:63149670::A 12106/98654)
Row 8281894 (NC_000011.9:63149670::AA 40/98654)
Row 8281895 (NC_000011.9:63149670:A: 2012/98654)...

- Jul 13, 2019 (153)
45 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8281893 (NC_000011.9:63149670::A 12106/98654)
Row 8281894 (NC_000011.9:63149670::AA 40/98654)
Row 8281895 (NC_000011.9:63149670:A: 2012/98654)...

- Jul 13, 2019 (153)
46 8.3KJPN

Submission ignored due to conflicting rows:
Row 60283104 (NC_000011.9:63149670:A: 8/16758)
Row 60283105 (NC_000011.9:63149670::A 9/16758)
Row 60283106 (NC_000011.9:63149670:AAA: 1/16758)

- Apr 26, 2021 (155)
47 8.3KJPN

Submission ignored due to conflicting rows:
Row 60283104 (NC_000011.9:63149670:A: 8/16758)
Row 60283105 (NC_000011.9:63149670::A 9/16758)
Row 60283106 (NC_000011.9:63149670:AAA: 1/16758)

- Apr 26, 2021 (155)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 60283104 (NC_000011.9:63149670:A: 8/16758)
Row 60283105 (NC_000011.9:63149670::A 9/16758)
Row 60283106 (NC_000011.9:63149670:AAA: 1/16758)

- Apr 26, 2021 (155)
49 14KJPN

Submission ignored due to conflicting rows:
Row 84128360 (NC_000011.10:63382198:A: 12/28258)
Row 84128361 (NC_000011.10:63382198:AAA: 1/28258)
Row 84128362 (NC_000011.10:63382198::A 11/28258)

- Oct 13, 2022 (156)
50 14KJPN

Submission ignored due to conflicting rows:
Row 84128360 (NC_000011.10:63382198:A: 12/28258)
Row 84128361 (NC_000011.10:63382198:AAA: 1/28258)
Row 84128362 (NC_000011.10:63382198::A 11/28258)

- Oct 13, 2022 (156)
51 14KJPN

Submission ignored due to conflicting rows:
Row 84128360 (NC_000011.10:63382198:A: 12/28258)
Row 84128361 (NC_000011.10:63382198:AAA: 1/28258)
Row 84128362 (NC_000011.10:63382198::A 11/28258)

- Oct 13, 2022 (156)
52 TopMed NC_000011.10 - 63382199 Apr 26, 2021 (155)
53 ALFA NC_000011.10 - 63382199 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)
rs796599364 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5202313799 NC_000011.9:63149670:AAA: NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAA

(self)
ss5750291257 NC_000011.10:63382198:AAA: NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAA

ss1711974547 NC_000011.9:63149670:AA: NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAA

(self)
54103830, ss1371005412, ss1711974544, ss3986529460, ss5202313797, ss5936049242 NC_000011.9:63149670:A: NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAA

(self)
ss3814730557, ss4236355766, ss5287677748, ss5314432075, ss5482826791, ss5750291256 NC_000011.10:63382198:A: NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAA

(self)
12214768570 NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAA

NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAA

(self)
ss159746722 NT_167190.1:8455475:A: NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAA

(self)
ss1711974545, ss2710736943, ss3008216807, ss3786973403, ss5202313798, ss5651372492, ss5936049243 NC_000011.9:63149670::A NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss1371005415 NC_000011.9:63149671::A NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4236355764, ss5287677747, ss5314432074, ss5482826790, ss5750291258, ss5812478203 NC_000011.10:63382198::A NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA

(self)
12214768570 NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA

NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3814730558 NC_000011.10:63382199::A NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss1711974546 NC_000011.9:63149670::AA NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAAA

(self)
103373496, ss4236355765, ss4887827840 NC_000011.10:63382198::AA NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAAA

(self)
12214768570 NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAAA

NC_000011.10:63382198:AAAAAAAAAAA:…

NC_000011.10:63382198:AAAAAAAAAAA:AAAAAAAAAAAAA

(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 rs78765214

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