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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.

rs11289794

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:154227988-154227997 (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
delAA / delA / dupA
Variation Type
Indel Insertion and Deletion
Frequency
(A)10=0.405943 (107449/264690, TOPMED)
delA=0.4190 (3699/8828, ALFA)
(A)10=0.3146 (2015/6404, 1000G_30x) (+ 9 more)
(A)10=0.3127 (1566/5008, 1000G)
(A)10=0.4439 (1987/4476, Estonian)
(A)10=0.4598 (1772/3854, ALSPAC)
(A)10=0.4625 (1715/3708, TWINSUK)
(A)10=0.2511 (460/1832, Korea1K)
(A)10=0.473 (472/998, GoNL)
delA=0.490 (293/598, NorthernSweden)
(A)10=0.50 (20/40, GENOME_DK)
delA=0.50 (20/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OPRM1 : Intron Variant
IPCEF1 : 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 8828 AAAAAAAAAA=0.5810 AAAAAAAAA=0.4190, AAAAAAAAAAA=0.0000 0.403489 0.241504 0.355007 32
European Sub 8206 AAAAAAAAAA=0.5596 AAAAAAAAA=0.4404, AAAAAAAAAAA=0.0000 0.371679 0.252498 0.375823 32
African Sub 428 AAAAAAAAAA=0.869 AAAAAAAAA=0.131, AAAAAAAAAAA=0.000 0.82243 0.084112 0.093458 32
African Others Sub 10 AAAAAAAAAA=0.7 AAAAAAAAA=0.3, AAAAAAAAAAA=0.0 0.6 0.2 0.2 1
African American Sub 418 AAAAAAAAAA=0.873 AAAAAAAAA=0.127, AAAAAAAAAAA=0.000 0.827751 0.08134 0.090909 32
Asian Sub 4 AAAAAAAAAA=0.0 AAAAAAAAA=1.0, AAAAAAAAAAA=0.0 0.0 1.0 0.0 N/A
East Asian Sub 2 AAAAAAAAAA=0.0 AAAAAAAAA=1.0, AAAAAAAAAAA=0.0 0.0 1.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAA=0.0 AAAAAAAAA=1.0, AAAAAAAAAAA=0.0 0.0 1.0 0.0 N/A
Latin American 1 Sub 34 AAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 46 AAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 6 AAAAAAAAAA=0.3 AAAAAAAAA=0.7, AAAAAAAAAAA=0.0 0.333333 0.666667 0.0 2
Other Sub 104 AAAAAAAAAA=0.798 AAAAAAAAA=0.202, AAAAAAAAAAA=0.000 0.75 0.153846 0.096154 14


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)10=0.405943 delA=0.594057
Allele Frequency Aggregator Total Global 8828 (A)10=0.5810 delA=0.4190, dupA=0.0000
Allele Frequency Aggregator European Sub 8206 (A)10=0.5596 delA=0.4404, dupA=0.0000
Allele Frequency Aggregator African Sub 428 (A)10=0.869 delA=0.131, dupA=0.000
Allele Frequency Aggregator Other Sub 104 (A)10=0.798 delA=0.202, dupA=0.000
Allele Frequency Aggregator Latin American 2 Sub 46 (A)10=1.00 delA=0.00, dupA=0.00
Allele Frequency Aggregator Latin American 1 Sub 34 (A)10=1.00 delA=0.00, dupA=0.00
Allele Frequency Aggregator South Asian Sub 6 (A)10=0.3 delA=0.7, dupA=0.0
Allele Frequency Aggregator Asian Sub 4 (A)10=0.0 delA=1.0, dupA=0.0
1000Genomes_30x Global Study-wide 6404 (A)10=0.3146 delA=0.6854
1000Genomes_30x African Sub 1786 (A)10=0.3169 delA=0.6831
1000Genomes_30x Europe Sub 1266 (A)10=0.4542 delA=0.5458
1000Genomes_30x South Asian Sub 1202 (A)10=0.1938 delA=0.8062
1000Genomes_30x East Asian Sub 1170 (A)10=0.2974 delA=0.7026
1000Genomes_30x American Sub 980 (A)10=0.299 delA=0.701
1000Genomes Global Study-wide 5008 (A)10=0.3127 delA=0.6873
1000Genomes African Sub 1322 (A)10=0.3238 delA=0.6762
1000Genomes East Asian Sub 1008 (A)10=0.2837 delA=0.7163
1000Genomes Europe Sub 1006 (A)10=0.4553 delA=0.5447
1000Genomes South Asian Sub 978 (A)10=0.192 delA=0.808
1000Genomes American Sub 694 (A)10=0.297 delA=0.703
Genetic variation in the Estonian population Estonian Study-wide 4476 (A)10=0.4439 delA=0.5561
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (A)10=0.4598 delA=0.5402
UK 10K study - Twins TWIN COHORT Study-wide 3708 (A)10=0.4625 delA=0.5375
Korean Genome Project KOREAN Study-wide 1832 (A)10=0.2511 delA=0.7489
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 (A)10=0.473 delA=0.527
Northern Sweden ACPOP Study-wide 598 (A)10=0.510 delA=0.490
The Danish reference pan genome Danish Study-wide 40 (A)10=0.50 delA=0.50
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 6 NC_000006.12:g.154227996_154227997del
GRCh38.p14 chr 6 NC_000006.12:g.154227997del
GRCh38.p14 chr 6 NC_000006.12:g.154227997dup
GRCh37.p13 chr 6 NC_000006.11:g.154549130_154549131del
GRCh37.p13 chr 6 NC_000006.11:g.154549131del
GRCh37.p13 chr 6 NC_000006.11:g.154549131dup
OPRM1 RefSeqGene (LRG_1007) NG_021208.2:g.222496_222497del
OPRM1 RefSeqGene (LRG_1007) NG_021208.2:g.222497del
OPRM1 RefSeqGene (LRG_1007) NG_021208.2:g.222497dup
Gene: OPRM1, opioid receptor mu 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
OPRM1 transcript variant MOR-1O NM_001008503.3:c.1165-186…

NM_001008503.3:c.1165-18697_1165-18696del

N/A Intron Variant
OPRM1 transcript variant MOR-1 NM_000914.5:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1A NM_001008504.4:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1X NM_001008505.2:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1i NM_001145279.4:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1G1 NM_001145280.4:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1G2 NM_001145281.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1B1 NM_001145282.2:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1B2 NM_001145283.2:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1B3 NM_001145284.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1B4 NM_001145285.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1B5 NM_001145286.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1K1 NM_001145287.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1S NM_001285522.1:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1A2 NM_001285523.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1CA NM_001285524.1:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1K2 NM_001285526.2:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1W NM_001285527.1:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-3 NM_001285528.2:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1Y3 NR_104348.1:n. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1Y2 NR_104349.1:n. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1Z NR_104350.1:n. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant MOR-1Y NR_104351.1:n. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X2 XM_011535851.4:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X3 XM_011535853.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X5 XM_011535856.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X7 XM_011535862.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X1 XM_017010903.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X4 XM_017010904.2:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X8 XM_017010907.3:c. N/A Genic Downstream Transcript Variant
OPRM1 transcript variant X6 XM_047418837.1:c. N/A Genic Downstream Transcript Variant
Gene: IPCEF1, interaction protein for cytohesin exchange factors 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IPCEF1 transcript variant 1 NM_001130699.2:c.247-4746…

NM_001130699.2:c.247-4746_247-4745del

N/A Intron Variant
IPCEF1 transcript variant 2 NM_001130700.2:c.247-4746…

NM_001130700.2:c.247-4746_247-4745del

N/A Intron Variant
IPCEF1 transcript variant 4 NM_001394799.1:c.247-4746…

NM_001394799.1:c.247-4746_247-4745del

N/A Intron Variant
IPCEF1 transcript variant 5 NM_001394800.1:c.247-4746…

NM_001394800.1:c.247-4746_247-4745del

N/A Intron Variant
IPCEF1 transcript variant 6 NM_001394801.1:c.247-4746…

NM_001394801.1:c.247-4746_247-4745del

N/A Intron Variant
IPCEF1 transcript variant 7 NM_001394802.1:c.244-4746…

NM_001394802.1:c.244-4746_244-4745del

N/A Intron Variant
IPCEF1 transcript variant 3 NM_015553.3:c.244-4746_24…

NM_015553.3:c.244-4746_244-4745del

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)10= delAA delA dupA
GRCh38.p14 chr 6 NC_000006.12:g.154227988_154227997= NC_000006.12:g.154227996_154227997del NC_000006.12:g.154227997del NC_000006.12:g.154227997dup
GRCh37.p13 chr 6 NC_000006.11:g.154549122_154549131= NC_000006.11:g.154549130_154549131del NC_000006.11:g.154549131del NC_000006.11:g.154549131dup
OPRM1 RefSeqGene (LRG_1007) NG_021208.2:g.222488_222497= NG_021208.2:g.222496_222497del NG_021208.2:g.222497del NG_021208.2:g.222497dup
OPRM1 transcript variant MOR-1O NM_001008503.1:c.1165-18705= NM_001008503.1:c.1165-18697_1165-18696del NM_001008503.1:c.1165-18696del NM_001008503.1:c.1165-18696dup
OPRM1 transcript variant MOR-1O NM_001008503.3:c.1165-18705= NM_001008503.3:c.1165-18697_1165-18696del NM_001008503.3:c.1165-18696del NM_001008503.3:c.1165-18696dup
IPCEF1 transcript variant 1 NM_001130699.1:c.247-4745= NM_001130699.1:c.247-4746_247-4745del NM_001130699.1:c.247-4745del NM_001130699.1:c.247-4745dup
IPCEF1 transcript variant 1 NM_001130699.2:c.247-4745= NM_001130699.2:c.247-4746_247-4745del NM_001130699.2:c.247-4745del NM_001130699.2:c.247-4745dup
IPCEF1 transcript variant 2 NM_001130700.1:c.247-4745= NM_001130700.1:c.247-4746_247-4745del NM_001130700.1:c.247-4745del NM_001130700.1:c.247-4745dup
IPCEF1 transcript variant 2 NM_001130700.2:c.247-4745= NM_001130700.2:c.247-4746_247-4745del NM_001130700.2:c.247-4745del NM_001130700.2:c.247-4745dup
IPCEF1 transcript variant 4 NM_001394799.1:c.247-4745= NM_001394799.1:c.247-4746_247-4745del NM_001394799.1:c.247-4745del NM_001394799.1:c.247-4745dup
IPCEF1 transcript variant 5 NM_001394800.1:c.247-4745= NM_001394800.1:c.247-4746_247-4745del NM_001394800.1:c.247-4745del NM_001394800.1:c.247-4745dup
IPCEF1 transcript variant 6 NM_001394801.1:c.247-4745= NM_001394801.1:c.247-4746_247-4745del NM_001394801.1:c.247-4745del NM_001394801.1:c.247-4745dup
IPCEF1 transcript variant 7 NM_001394802.1:c.244-4745= NM_001394802.1:c.244-4746_244-4745del NM_001394802.1:c.244-4745del NM_001394802.1:c.244-4745dup
IPCEF1 transcript variant 3 NM_015553.2:c.244-4745= NM_015553.2:c.244-4746_244-4745del NM_015553.2:c.244-4745del NM_015553.2:c.244-4745dup
IPCEF1 transcript variant 3 NM_015553.3:c.244-4745= NM_015553.3:c.244-4746_244-4745del NM_015553.3:c.244-4745del NM_015553.3:c.244-4745dup
IPCEF1 transcript variant X1 XM_005266919.1:c.247-4745= XM_005266919.1:c.247-4746_247-4745del XM_005266919.1:c.247-4745del XM_005266919.1:c.247-4745dup
IPCEF1 transcript variant X2 XM_005266920.1:c.247-4745= XM_005266920.1:c.247-4746_247-4745del XM_005266920.1:c.247-4745del XM_005266920.1:c.247-4745dup
IPCEF1 transcript variant X3 XM_005266921.1:c.247-4745= XM_005266921.1:c.247-4746_247-4745del XM_005266921.1:c.247-4745del XM_005266921.1:c.247-4745dup
IPCEF1 transcript variant X4 XM_005266922.1:c.247-4745= XM_005266922.1:c.247-4746_247-4745del XM_005266922.1:c.247-4745del XM_005266922.1:c.247-4745dup
IPCEF1 transcript variant X5 XM_005266923.1:c.244-4745= XM_005266923.1:c.244-4746_244-4745del XM_005266923.1:c.244-4745del XM_005266923.1:c.244-4745dup
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#.

62 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42787438 Dec 03, 2013 (138)
2 HGSV ss77905123 Sep 08, 2015 (146)
3 HUMANGENOME_JCVI ss95446343 Dec 05, 2013 (138)
4 BGI ss104773268 Dec 01, 2009 (137)
5 GMI ss155103373 Dec 01, 2009 (137)
6 BUSHMAN ss193894659 Jul 04, 2010 (137)
7 GMI ss287804703 May 09, 2011 (137)
8 GMI ss288810958 May 04, 2012 (137)
9 PJP ss295315074 May 09, 2011 (137)
10 1000GENOMES ss326879936 May 09, 2011 (137)
11 1000GENOMES ss326930077 May 09, 2011 (137)
12 1000GENOMES ss327200466 May 09, 2011 (137)
13 LUNTER ss551682321 Apr 25, 2013 (138)
14 LUNTER ss551880931 Apr 25, 2013 (138)
15 LUNTER ss553276660 Apr 25, 2013 (138)
16 SSMP ss663666934 Apr 01, 2015 (144)
17 BILGI_BIOE ss666379779 Apr 25, 2013 (138)
18 EVA-GONL ss983681918 Aug 21, 2014 (142)
19 1000GENOMES ss1376419691 Aug 21, 2014 (142)
20 DDI ss1536528455 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1576885946 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1705432883 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1705432905 Apr 01, 2015 (144)
24 HAMMER_LAB ss1804749932 Sep 08, 2015 (146)
25 JJLAB ss2030807213 Sep 14, 2016 (149)
26 SYSTEMSBIOZJU ss2626553942 Nov 08, 2017 (151)
27 SWEGEN ss3000224498 Nov 08, 2017 (151)
28 MCHAISSO ss3064232827 Nov 08, 2017 (151)
29 MCHAISSO ss3065112879 Nov 08, 2017 (151)
30 MCHAISSO ss3066115302 Nov 08, 2017 (151)
31 BEROUKHIMLAB ss3644226561 Oct 12, 2018 (152)
32 BIOINF_KMB_FNS_UNIBA ss3645996384 Oct 12, 2018 (152)
33 URBANLAB ss3648505598 Oct 12, 2018 (152)
34 EGCUT_WGS ss3668162207 Jul 13, 2019 (153)
35 EVA_DECODE ss3718617125 Jul 13, 2019 (153)
36 ACPOP ss3734134610 Jul 13, 2019 (153)
37 PACBIO ss3785665634 Jul 13, 2019 (153)
38 PACBIO ss3790985676 Jul 13, 2019 (153)
39 PACBIO ss3795865060 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3809045911 Jul 13, 2019 (153)
41 EVA ss3830279942 Apr 26, 2020 (154)
42 EVA ss3838624995 Apr 26, 2020 (154)
43 EVA ss3844074841 Apr 26, 2020 (154)
44 KOGIC ss3960402537 Apr 26, 2020 (154)
45 GNOMAD ss4154409407 Apr 26, 2021 (155)
46 TOPMED ss4727809572 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5180700314 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5180700315 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5180700316 Apr 26, 2021 (155)
50 1000G_HIGH_COVERAGE ss5270958531 Oct 14, 2022 (156)
51 HUGCELL_USP ss5468348606 Oct 14, 2022 (156)
52 1000G_HIGH_COVERAGE ss5558208159 Oct 14, 2022 (156)
53 SANFORD_IMAGENETICS ss5641842250 Oct 14, 2022 (156)
54 TOMMO_GENOMICS ss5719802129 Oct 14, 2022 (156)
55 TOMMO_GENOMICS ss5719802130 Oct 14, 2022 (156)
56 TOMMO_GENOMICS ss5719802131 Oct 14, 2022 (156)
57 YY_MCH ss5808108984 Oct 14, 2022 (156)
58 EVA ss5843227090 Oct 14, 2022 (156)
59 EVA ss5855655956 Oct 14, 2022 (156)
60 EVA ss5886657961 Oct 14, 2022 (156)
61 EVA ss5970823336 Oct 14, 2022 (156)
62 EVA ss5970823337 Oct 14, 2022 (156)
63 1000Genomes NC_000006.11 - 154549122 Oct 12, 2018 (152)
64 1000Genomes_30x NC_000006.12 - 154227988 Oct 14, 2022 (156)
65 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 154549122 Oct 12, 2018 (152)
66 Genetic variation in the Estonian population NC_000006.11 - 154549122 Oct 12, 2018 (152)
67 The Danish reference pan genome NC_000006.11 - 154549122 Apr 26, 2020 (154)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 246121161 (NC_000006.12:154227987::A 5/138158)
Row 246121162 (NC_000006.12:154227987:A: 81272/138056)

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

Submission ignored due to conflicting rows:
Row 246121161 (NC_000006.12:154227987::A 5/138158)
Row 246121162 (NC_000006.12:154227987:A: 81272/138056)

- Apr 26, 2021 (155)
70 Genome of the Netherlands Release 5 NC_000006.11 - 154549122 Apr 26, 2020 (154)
71 Korean Genome Project NC_000006.12 - 154227988 Apr 26, 2020 (154)
72 Northern Sweden NC_000006.11 - 154549122 Jul 13, 2019 (153)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 38669621 (NC_000006.11:154549121:A: 13044/16760)
Row 38669622 (NC_000006.11:154549121:AA: 1/16760)
Row 38669623 (NC_000006.11:154549121::A 1/16760)

- Apr 26, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 38669621 (NC_000006.11:154549121:A: 13044/16760)
Row 38669622 (NC_000006.11:154549121:AA: 1/16760)
Row 38669623 (NC_000006.11:154549121::A 1/16760)

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 38669621 (NC_000006.11:154549121:A: 13044/16760)
Row 38669622 (NC_000006.11:154549121:AA: 1/16760)
Row 38669623 (NC_000006.11:154549121::A 1/16760)

- Apr 26, 2021 (155)
76 14KJPN

Submission ignored due to conflicting rows:
Row 53639233 (NC_000006.12:154227987:A: 22024/28258)
Row 53639234 (NC_000006.12:154227987:AA: 1/28258)
Row 53639235 (NC_000006.12:154227987::A 2/28258)

- Oct 14, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 53639233 (NC_000006.12:154227987:A: 22024/28258)
Row 53639234 (NC_000006.12:154227987:AA: 1/28258)
Row 53639235 (NC_000006.12:154227987::A 2/28258)

- Oct 14, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 53639233 (NC_000006.12:154227987:A: 22024/28258)
Row 53639234 (NC_000006.12:154227987:AA: 1/28258)
Row 53639235 (NC_000006.12:154227987::A 2/28258)

- Oct 14, 2022 (156)
79 TopMed NC_000006.12 - 154227988 Apr 26, 2021 (155)
80 UK 10K study - Twins NC_000006.11 - 154549122 Oct 12, 2018 (152)
81 ALFA NC_000006.12 - 154227988 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)
rs11325737 May 11, 2012 (137)
rs71779843 May 11, 2012 (137)
rs77669754 May 11, 2012 (137)
rs145487007 May 04, 2012 (137)
rs371529604 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5180700315 NC_000006.11:154549121:AA: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAA

(self)
ss5719802130 NC_000006.12:154227987:AA: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAA

ss77905123 NC_000006.9:154641243:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
ss288810958, ss295315074, ss326879936, ss326930077, ss327200466, ss551682321, ss551880931, ss553276660 NC_000006.10:154590813:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
34862492, 19439583, 13900455, 1118937, 8652627, 7419475, 19439583, ss663666934, ss666379779, ss983681918, ss1376419691, ss1536528455, ss1576885946, ss1705432883, ss1705432905, ss1804749932, ss2030807213, ss2626553942, ss3000224498, ss3644226561, ss3668162207, ss3734134610, ss3785665634, ss3790985676, ss3795865060, ss3830279942, ss3838624995, ss5180700314, ss5641842250, ss5843227090, ss5970823336, ss5970823337 NC_000006.11:154549121:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
45734094, 16780538, 565187130, ss3064232827, ss3065112879, ss3066115302, ss3645996384, ss3648505598, ss3718617125, ss3809045911, ss3844074841, ss3960402537, ss4727809572, ss5270958531, ss5468348606, ss5558208159, ss5719802129, ss5808108984, ss5855655956, ss5886657961 NC_000006.12:154227987:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
4332177246 NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
ss155103373, ss287804703 NT_025741.15:58718578:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
ss104773268 NT_025741.15:58718586:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
ss42787438, ss95446343 NT_025741.15:58718587:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
ss193894659 NT_025741.16:93998053:A: NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAA

(self)
ss5180700316 NC_000006.11:154549121::A NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAAAA

(self)
ss4154409407, ss5719802131 NC_000006.12:154227987::A NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAAAA

(self)
4332177246 NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAAAA

NC_000006.12:154227987:AAAAAAAAAA:…

NC_000006.12:154227987:AAAAAAAAAA:AAAAAAAAAAA

(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 rs11289794

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