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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs660560

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:4125707 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.333613 (88304/264690, TOPMED)
G=0.322009 (45116/140108, GnomAD)
G=0.30707 (22175/72214, ALFA) (+ 20 more)
G=0.41075 (11607/28258, 14KJPN)
G=0.40865 (6849/16760, 8.3KJPN)
G=0.3268 (2093/6404, 1000G_30x)
G=0.3265 (1635/5008, 1000G)
G=0.2237 (1002/4480, Estonian)
G=0.3241 (1249/3854, ALSPAC)
G=0.3290 (1220/3708, TWINSUK)
G=0.3901 (1143/2930, KOREAN)
G=0.3353 (698/2082, HGDP_Stanford)
G=0.3251 (615/1892, HapMap)
G=0.3848 (705/1832, Korea1K)
G=0.346 (345/998, GoNL)
G=0.414 (259/626, Chileans)
G=0.273 (164/600, NorthernSweden)
A=0.402 (106/264, SGDP_PRJ)
G=0.282 (61/216, Qatari)
G=0.288 (61/212, Vietnamese)
G=0.31 (22/72, Ancient Sardinia)
G=0.30 (12/40, GENOME_DK)
A=0.36 (8/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ECI2 : Intron Variant
C6orf201 : Non Coding Transcript Variant
Publications
1 citation
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 72214 A=0.69293 G=0.30707 0.481569 0.095716 0.422716 1
European Sub 55956 A=0.69537 G=0.30463 0.484095 0.093359 0.422546 0
African Sub 5204 A=0.6422 G=0.3578 0.41814 0.133743 0.448117 1
African Others Sub 182 A=0.670 G=0.330 0.461538 0.120879 0.417582 0
African American Sub 5022 A=0.6412 G=0.3588 0.416567 0.134209 0.449223 1
Asian Sub 238 A=0.647 G=0.353 0.428571 0.134454 0.436975 0
East Asian Sub 164 A=0.634 G=0.366 0.414634 0.146341 0.439024 0
Other Asian Sub 74 A=0.68 G=0.32 0.459459 0.108108 0.432432 0
Latin American 1 Sub 400 A=0.650 G=0.350 0.42 0.12 0.46 0
Latin American 2 Sub 3392 A=0.6548 G=0.3452 0.432193 0.122642 0.445165 0
South Asian Sub 4968 A=0.7566 G=0.2434 0.570048 0.056763 0.373188 0
Other Sub 2056 A=0.6775 G=0.3225 0.459144 0.104086 0.43677 0


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=0.666387 G=0.333613
gnomAD - Genomes Global Study-wide 140108 A=0.677991 G=0.322009
gnomAD - Genomes European Sub 75882 A=0.70061 G=0.29939
gnomAD - Genomes African Sub 41988 A=0.64985 G=0.35015
gnomAD - Genomes American Sub 13644 A=0.63112 G=0.36888
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.7495 G=0.2505
gnomAD - Genomes East Asian Sub 3122 A=0.6470 G=0.3530
gnomAD - Genomes Other Sub 2150 A=0.6609 G=0.3391
Allele Frequency Aggregator Total Global 72214 A=0.69293 G=0.30707
Allele Frequency Aggregator European Sub 55956 A=0.69537 G=0.30463
Allele Frequency Aggregator African Sub 5204 A=0.6422 G=0.3578
Allele Frequency Aggregator South Asian Sub 4968 A=0.7566 G=0.2434
Allele Frequency Aggregator Latin American 2 Sub 3392 A=0.6548 G=0.3452
Allele Frequency Aggregator Other Sub 2056 A=0.6775 G=0.3225
Allele Frequency Aggregator Latin American 1 Sub 400 A=0.650 G=0.350
Allele Frequency Aggregator Asian Sub 238 A=0.647 G=0.353
14KJPN JAPANESE Study-wide 28258 A=0.58925 G=0.41075
8.3KJPN JAPANESE Study-wide 16760 A=0.59135 G=0.40865
1000Genomes_30x Global Study-wide 6404 A=0.6732 G=0.3268
1000Genomes_30x African Sub 1786 A=0.6439 G=0.3561
1000Genomes_30x Europe Sub 1266 A=0.6659 G=0.3341
1000Genomes_30x South Asian Sub 1202 A=0.7787 G=0.2213
1000Genomes_30x East Asian Sub 1170 A=0.6368 G=0.3632
1000Genomes_30x American Sub 980 A=0.650 G=0.350
1000Genomes Global Study-wide 5008 A=0.6735 G=0.3265
1000Genomes African Sub 1322 A=0.6415 G=0.3585
1000Genomes East Asian Sub 1008 A=0.6409 G=0.3591
1000Genomes Europe Sub 1006 A=0.6680 G=0.3320
1000Genomes South Asian Sub 978 A=0.780 G=0.220
1000Genomes American Sub 694 A=0.640 G=0.360
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7763 G=0.2237
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6759 G=0.3241
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6710 G=0.3290
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6099 C=0.0000, G=0.3901
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.6647 G=0.3353
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.611 G=0.389
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.761 G=0.239
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 A=0.681 G=0.319
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.650 G=0.350
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.636 G=0.364
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.574 G=0.426
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.82 G=0.18
HapMap Global Study-wide 1892 A=0.6749 G=0.3251
HapMap American Sub 770 A=0.686 G=0.314
HapMap African Sub 692 A=0.681 G=0.319
HapMap Asian Sub 254 A=0.677 G=0.323
HapMap Europe Sub 176 A=0.602 G=0.398
Korean Genome Project KOREAN Study-wide 1832 A=0.6152 G=0.3848
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.654 G=0.346
Chileans Chilean Study-wide 626 A=0.586 G=0.414
Northern Sweden ACPOP Study-wide 600 A=0.727 G=0.273
SGDP_PRJ Global Study-wide 264 A=0.402 G=0.598
Qatari Global Study-wide 216 A=0.718 G=0.282
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.712 G=0.288
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 A=0.69 G=0.31
The Danish reference pan genome Danish Study-wide 40 A=0.70 G=0.30
Siberian Global Study-wide 22 A=0.36 G=0.64
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.4125707A>C
GRCh38.p14 chr 6 NC_000006.12:g.4125707A>G
GRCh37.p13 chr 6 NC_000006.11:g.4125941A>C
GRCh37.p13 chr 6 NC_000006.11:g.4125941A>G
Gene: ECI2, enoyl-CoA delta isomerase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ECI2 transcript variant 3 NM_001166010.2:c.585-337T…

NM_001166010.2:c.585-337T>G

 		N/A Intron Variant
ECI2 transcript variant 1 NM_006117.3:c.585-337T>G N/A Intron Variant
ECI2 transcript variant 2 NM_206836.3:c.675-337T>G N/A Intron Variant
ECI2 transcript variant 4 NR_028588.2:n. N/A Intron Variant
Gene: C6orf201, chromosome 6 open reading frame 201 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TEX56P transcript variant 2 NR_104463.3:n.2152A>C N/A Non Coding Transcript Variant
TEX56P transcript variant 2 NR_104463.3:n.2152A>G N/A Non Coding Transcript Variant
TEX56P transcript variant 3 NR_104464.3:n.1498A>C N/A Non Coding Transcript Variant
TEX56P transcript variant 3 NR_104464.3:n.1498A>G N/A Non Coding Transcript Variant
TEX56P transcript variant 1 NR_172627.1:n. N/A Intron Variant
TEX56P transcript variant 4 NR_172628.1:n. 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= C G
GRCh38.p14 chr 6 NC_000006.12:g.4125707= NC_000006.12:g.4125707A>C NC_000006.12:g.4125707A>G
GRCh37.p13 chr 6 NC_000006.11:g.4125941= NC_000006.11:g.4125941A>C NC_000006.11:g.4125941A>G
TEX56P transcript variant 2 NR_104463.3:n.2152= NR_104463.3:n.2152A>C NR_104463.3:n.2152A>G
C6orf201 transcript variant 2 NR_104463.2:n.2152= NR_104463.2:n.2152A>C NR_104463.2:n.2152A>G
C6orf201 transcript variant 2 NR_104463.1:n.2155= NR_104463.1:n.2155A>C NR_104463.1:n.2155A>G
TEX56P transcript variant 3 NR_104464.3:n.1498= NR_104464.3:n.1498A>C NR_104464.3:n.1498A>G
C6orf201 transcript variant 3 NR_104464.2:n.1498= NR_104464.2:n.1498A>C NR_104464.2:n.1498A>G
C6orf201 transcript variant 3 NR_104464.1:n.1501= NR_104464.1:n.1501A>C NR_104464.1:n.1501A>G
C6orf201 transcript NM_206834.1:c.*724= NM_206834.1:c.*724A>C NM_206834.1:c.*724A>G
C6orf201 transcript variant 1 NM_001085401.2:c.382+3661= NM_001085401.2:c.382+3661A>C NM_001085401.2:c.382+3661A>G
ECI2 transcript variant 3 NM_001166010.1:c.585-337= NM_001166010.1:c.585-337T>G NM_001166010.1:c.585-337T>C
ECI2 transcript variant 3 NM_001166010.2:c.585-337= NM_001166010.2:c.585-337T>G NM_001166010.2:c.585-337T>C
ECI2 transcript variant 1 NM_006117.2:c.585-337= NM_006117.2:c.585-337T>G NM_006117.2:c.585-337T>C
ECI2 transcript variant 1 NM_006117.3:c.585-337= NM_006117.3:c.585-337T>G NM_006117.3:c.585-337T>C
ECI2 transcript variant 2 NM_206836.2:c.675-337= NM_206836.2:c.675-337T>G NM_206836.2:c.675-337T>C
ECI2 transcript variant 2 NM_206836.3:c.675-337= NM_206836.3:c.675-337T>G NM_206836.3:c.675-337T>C
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#.

105 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss833728 Aug 11, 2000 (83)
2 KWOK ss1233660 Oct 04, 2000 (86)
3 KWOK ss1728606 Oct 18, 2000 (87)
4 YUSUKE ss3189884 Aug 15, 2001 (98)
5 SC_JCM ss3937580 Sep 28, 2001 (100)
6 SC_SNP ss12861549 Dec 05, 2003 (119)
7 WI_SSAHASNP ss14420625 Dec 05, 2003 (119)
8 CSHL-HAPMAP ss19689477 Feb 27, 2004 (120)
9 SSAHASNP ss22474715 Apr 05, 2004 (121)
10 PERLEGEN ss24388696 Sep 20, 2004 (123)
11 ILLUMINA ss66623213 Nov 30, 2006 (127)
12 ILLUMINA ss67478809 Nov 30, 2006 (127)
13 ILLUMINA ss67835281 Nov 30, 2006 (127)
14 ILLUMINA ss70876569 May 25, 2008 (130)
15 ILLUMINA ss71466393 May 17, 2007 (127)
16 ILLUMINA ss75468877 Dec 06, 2007 (129)
17 AFFY ss76686779 Dec 06, 2007 (129)
18 ILLUMINA ss79227984 Dec 15, 2007 (130)
19 KRIBB_YJKIM ss83510578 Dec 15, 2007 (130)
20 BCMHGSC_JDW ss93373333 Mar 24, 2008 (129)
21 HUMANGENOME_JCVI ss98468877 Feb 06, 2009 (130)
22 1000GENOMES ss109707381 Jan 24, 2009 (130)
23 1000GENOMES ss113820189 Jan 25, 2009 (130)
24 ILLUMINA ss122583261 Dec 01, 2009 (131)
25 ENSEMBL ss143695801 Dec 01, 2009 (131)
26 ILLUMINA ss154371942 Dec 01, 2009 (131)
27 ILLUMINA ss159548015 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss161974701 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss163075876 Jul 04, 2010 (132)
30 ILLUMINA ss172161444 Jul 04, 2010 (132)
31 ILLUMINA ss174047582 Jul 04, 2010 (132)
32 BUSHMAN ss201347517 Jul 04, 2010 (132)
33 1000GENOMES ss222176996 Jul 14, 2010 (132)
34 1000GENOMES ss233300386 Jul 14, 2010 (132)
35 1000GENOMES ss240390987 Jul 15, 2010 (132)
36 GMI ss278630531 May 04, 2012 (137)
37 GMI ss285328852 Apr 25, 2013 (138)
38 PJP ss293587250 May 09, 2011 (134)
39 ILLUMINA ss537370622 Sep 08, 2015 (146)
40 TISHKOFF ss558966126 Apr 25, 2013 (138)
41 SSMP ss652876343 Apr 25, 2013 (138)
42 ILLUMINA ss825558502 Apr 01, 2015 (144)
43 ILLUMINA ss833059202 Aug 21, 2014 (142)
44 ILLUMINA ss833650030 Aug 21, 2014 (142)
45 EVA-GONL ss982526117 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1073337395 Aug 21, 2014 (142)
47 1000GENOMES ss1318755681 Aug 21, 2014 (142)
48 DDI ss1430619326 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1581508393 Apr 01, 2015 (144)
50 EVA_DECODE ss1592072262 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1614831788 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1657825821 Apr 01, 2015 (144)
53 EVA_SVP ss1712830839 Apr 01, 2015 (144)
54 HAMMER_LAB ss1804254206 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1925784153 Feb 12, 2016 (147)
56 GENOMED ss1970296671 Jul 19, 2016 (147)
57 JJLAB ss2023506575 Sep 14, 2016 (149)
58 USC_VALOUEV ss2151668594 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2281347557 Dec 20, 2016 (150)
60 GRF ss2707253835 Nov 08, 2017 (151)
61 GNOMAD ss2835190824 Nov 08, 2017 (151)
62 SWEGEN ss2998427163 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3025536814 Nov 08, 2017 (151)
64 CSHL ss3346809385 Nov 08, 2017 (151)
65 ILLUMINA ss3629430701 Oct 12, 2018 (152)
66 ILLUMINA ss3638603642 Oct 12, 2018 (152)
67 ILLUMINA ss3639304373 Oct 12, 2018 (152)
68 ILLUMINA ss3639677075 Oct 12, 2018 (152)
69 ILLUMINA ss3643545745 Oct 12, 2018 (152)
70 URBANLAB ss3648255635 Oct 12, 2018 (152)
71 EGCUT_WGS ss3666351311 Jul 13, 2019 (153)
72 EVA_DECODE ss3716473891 Jul 13, 2019 (153)
73 ACPOP ss3733153708 Jul 13, 2019 (153)
74 EVA ss3764544001 Jul 13, 2019 (153)
75 KHV_HUMAN_GENOMES ss3807705193 Jul 13, 2019 (153)
76 EVA ss3825689044 Apr 26, 2020 (154)
77 EVA ss3829702072 Apr 26, 2020 (154)
78 EVA ss3838325278 Apr 26, 2020 (154)
79 EVA ss3843765167 Apr 26, 2020 (154)
80 HGDP ss3847820587 Apr 26, 2020 (154)
81 SGDP_PRJ ss3863803652 Apr 26, 2020 (154)
82 KRGDB ss3910537929 Apr 26, 2020 (154)
83 KOGIC ss3958394705 Apr 26, 2020 (154)
84 FSA-LAB ss3984327928 Apr 26, 2021 (155)
85 FSA-LAB ss3984327929 Apr 26, 2021 (155)
86 EVA ss3985195559 Apr 26, 2021 (155)
87 EVA ss3986334687 Apr 26, 2021 (155)
88 EVA ss4017252011 Apr 26, 2021 (155)
89 TOPMED ss4691875681 Apr 26, 2021 (155)
90 TOMMO_GENOMICS ss5175916953 Apr 26, 2021 (155)
91 1000G_HIGH_COVERAGE ss5267209220 Oct 13, 2022 (156)
92 EVA ss5363463217 Oct 13, 2022 (156)
93 HUGCELL_USP ss5465020866 Oct 13, 2022 (156)
94 EVA ss5508330574 Oct 13, 2022 (156)
95 1000G_HIGH_COVERAGE ss5552544967 Oct 13, 2022 (156)
96 EVA ss5624154118 Oct 13, 2022 (156)
97 SANFORD_IMAGENETICS ss5639657293 Oct 13, 2022 (156)
98 TOMMO_GENOMICS ss5713513932 Oct 13, 2022 (156)
99 YY_MCH ss5807103462 Oct 13, 2022 (156)
100 EVA ss5841717335 Oct 13, 2022 (156)
101 EVA ss5848644624 Oct 13, 2022 (156)
102 EVA ss5855177991 Oct 13, 2022 (156)
103 EVA ss5882434527 Oct 13, 2022 (156)
104 EVA ss5968151120 Oct 13, 2022 (156)
105 EVA ss5980339532 Oct 13, 2022 (156)
106 1000Genomes NC_000006.11 - 4125941 Oct 12, 2018 (152)
107 1000Genomes_30x NC_000006.12 - 4125707 Oct 13, 2022 (156)
108 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 4125941 Oct 12, 2018 (152)
109 Chileans NC_000006.11 - 4125941 Apr 26, 2020 (154)
110 Genetic variation in the Estonian population NC_000006.11 - 4125941 Oct 12, 2018 (152)
111 The Danish reference pan genome NC_000006.11 - 4125941 Apr 26, 2020 (154)
112 gnomAD - Genomes NC_000006.12 - 4125707 Apr 26, 2021 (155)
113 Genome of the Netherlands Release 5 NC_000006.11 - 4125941 Apr 26, 2020 (154)
114 HGDP-CEPH-db Supplement 1 NC_000006.10 - 4070940 Apr 26, 2020 (154)
115 HapMap NC_000006.12 - 4125707 Apr 26, 2020 (154)
116 KOREAN population from KRGDB NC_000006.11 - 4125941 Apr 26, 2020 (154)
117 Korean Genome Project NC_000006.12 - 4125707 Apr 26, 2020 (154)
118 Northern Sweden NC_000006.11 - 4125941 Jul 13, 2019 (153)
119 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 4125941 Apr 26, 2021 (155)
120 Qatari NC_000006.11 - 4125941 Apr 26, 2020 (154)
121 SGDP_PRJ NC_000006.11 - 4125941 Apr 26, 2020 (154)
122 Siberian NC_000006.11 - 4125941 Apr 26, 2020 (154)
123 8.3KJPN NC_000006.11 - 4125941 Apr 26, 2021 (155)
124 14KJPN NC_000006.12 - 4125707 Oct 13, 2022 (156)
125 TopMed NC_000006.12 - 4125707 Apr 26, 2021 (155)
126 UK 10K study - Twins NC_000006.11 - 4125941 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000006.11 - 4125941 Jul 13, 2019 (153)
128 ALFA NC_000006.12 - 4125707 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)
rs17678150 Oct 08, 2004 (123)
rs60104177 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
17715323, ss3910537929 NC_000006.11:4125940:A:C NC_000006.12:4125706:A:C (self)
ss3639304373, ss3639677075 NC_000006.9:4070939:A:G NC_000006.12:4125706:A:G (self)
498479, ss76686779, ss93373333, ss109707381, ss113820189, ss161974701, ss163075876, ss201347517, ss278630531, ss285328852, ss293587250, ss825558502, ss1592072262, ss1712830839, ss3643545745, ss3847820587 NC_000006.10:4070939:A:G NC_000006.12:4125706:A:G (self)
30489790, 16971314, 369360, 12089559, 7673332, 7532653, 17715323, 6438573, 421486, 7826083, 15820632, 4184948, 33886260, 16971314, 3758495, ss222176996, ss233300386, ss240390987, ss537370622, ss558966126, ss652876343, ss833059202, ss833650030, ss982526117, ss1073337395, ss1318755681, ss1430619326, ss1581508393, ss1614831788, ss1657825821, ss1804254206, ss1925784153, ss1970296671, ss2023506575, ss2151668594, ss2707253835, ss2835190824, ss2998427163, ss3346809385, ss3629430701, ss3638603642, ss3666351311, ss3733153708, ss3764544001, ss3825689044, ss3829702072, ss3838325278, ss3863803652, ss3910537929, ss3984327928, ss3984327929, ss3985195559, ss3986334687, ss4017252011, ss5175916953, ss5363463217, ss5508330574, ss5624154118, ss5639657293, ss5841717335, ss5848644624, ss5968151120, ss5980339532 NC_000006.11:4125940:A:G NC_000006.12:4125706:A:G (self)
40070902, 215577109, 3047918, 14772706, 47351036, 529253239, 8460632931, ss2281347557, ss3025536814, ss3648255635, ss3716473891, ss3807705193, ss3843765167, ss3958394705, ss4691875681, ss5267209220, ss5465020866, ss5552544967, ss5713513932, ss5807103462, ss5855177991, ss5882434527 NC_000006.12:4125706:A:G NC_000006.12:4125706:A:G (self)
ss833728, ss1233660, ss1728606, ss3189884, ss3937580, ss24388696, ss66623213, ss67478809, ss67835281, ss70876569, ss71466393, ss75468877, ss79227984, ss83510578, ss98468877, ss122583261, ss143695801, ss154371942, ss159548015, ss172161444, ss174047582 NT_007592.15:4065940:A:G NC_000006.12:4125706:A:G (self)
ss12861549 NT_034880.2:4065939:A:G NC_000006.12:4125706:A:G (self)
ss14420625, ss19689477, ss22474715 NT_034880.3:4065939:A:G NC_000006.12:4125706:A:G (self)
Help

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

1 citation for rs660560
PMID Title Author Year Journal
20877624 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL et al. 2010 PloS one
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