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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.

rs3741049

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr11:108139200 (GRCh38.p13) 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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.101277 (26807/264690, TOPMED)
A=0.118890 (20773/174724, ALFA)
A=0.100009 (14009/140078, GnomAD) (+ 20 more)
A=0.38412 (6437/16758, 8.3KJPN)
A=0.1542 (772/5008, 1000G)
A=0.1308 (586/4480, Estonian)
A=0.1222 (471/3854, ALSPAC)
A=0.1313 (487/3708, TWINSUK)
A=0.3519 (1031/2930, KOREAN)
A=0.1516 (316/2084, HGDP_Stanford)
A=0.1401 (265/1892, HapMap)
A=0.3810 (698/1832, Korea1K)
A=0.119 (119/998, GoNL)
A=0.343 (270/788, PRJEB37584)
A=0.155 (93/600, NorthernSweden)
A=0.094 (50/534, MGP)
A=0.042 (9/216, Qatari)
A=0.379 (81/214, Vietnamese)
G=0.392 (47/120, SGDP_PRJ)
A=0.10 (4/42, Ancient Sardinia)
A=0.17 (7/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACAT1 : 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 174724 G=0.881110 A=0.118890
European Sub 151752 G=0.879409 A=0.120591
African Sub 7056 G=0.9708 A=0.0292
African Others Sub 264 G=0.992 A=0.008
African American Sub 6792 G=0.9700 A=0.0300
Asian Sub 698 G=0.652 A=0.348
East Asian Sub 552 G=0.638 A=0.362
Other Asian Sub 146 G=0.705 A=0.295
Latin American 1 Sub 778 G=0.919 A=0.081
Latin American 2 Sub 2820 G=0.8667 A=0.1333
South Asian Sub 5042 G=0.8437 A=0.1563
Other Sub 6578 G=0.8788 A=0.1212


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 G=0.898723 A=0.101277
Allele Frequency Aggregator Total Global 174724 G=0.881110 A=0.118890
Allele Frequency Aggregator European Sub 151752 G=0.879409 A=0.120591
Allele Frequency Aggregator African Sub 7056 G=0.9708 A=0.0292
Allele Frequency Aggregator Other Sub 6578 G=0.8788 A=0.1212
Allele Frequency Aggregator South Asian Sub 5042 G=0.8437 A=0.1563
Allele Frequency Aggregator Latin American 2 Sub 2820 G=0.8667 A=0.1333
Allele Frequency Aggregator Latin American 1 Sub 778 G=0.919 A=0.081
Allele Frequency Aggregator Asian Sub 698 G=0.652 A=0.348
gnomAD - Genomes Global Study-wide 140078 G=0.899991 A=0.100009
gnomAD - Genomes European Sub 75880 G=0.87471 A=0.12529
gnomAD - Genomes African Sub 41976 G=0.97055 A=0.02945
gnomAD - Genomes American Sub 13632 G=0.88087 A=0.11913
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9214 A=0.0786
gnomAD - Genomes East Asian Sub 3120 G=0.6349 A=0.3651
gnomAD - Genomes Other Sub 2150 G=0.8874 A=0.1126
8.3KJPN JAPANESE Study-wide 16758 G=0.61588 A=0.38412
1000Genomes Global Study-wide 5008 G=0.8458 A=0.1542
1000Genomes African Sub 1322 G=0.9879 A=0.0121
1000Genomes East Asian Sub 1008 G=0.6448 A=0.3552
1000Genomes Europe Sub 1006 G=0.8787 A=0.1213
1000Genomes South Asian Sub 978 G=0.830 A=0.170
1000Genomes American Sub 694 G=0.841 A=0.159
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8692 A=0.1308
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8778 A=0.1222
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8687 A=0.1313
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6481 A=0.3519, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8484 A=0.1516
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.691 A=0.309
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.894 A=0.106
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.969 A=0.031
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.875 A=0.125
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.648 A=0.352
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1892 G=0.8599 A=0.1401
HapMap American Sub 770 G=0.816 A=0.184
HapMap African Sub 692 G=0.981 A=0.019
HapMap Asian Sub 254 G=0.626 A=0.374
HapMap Europe Sub 176 G=0.915 A=0.085
Korean Genome Project KOREAN Study-wide 1832 G=0.6190 A=0.3810
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.881 A=0.119
CNV burdens in cranial meningiomas Global Study-wide 788 G=0.657 A=0.343
CNV burdens in cranial meningiomas CRM Sub 788 G=0.657 A=0.343
Northern Sweden ACPOP Study-wide 600 G=0.845 A=0.155
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.906 A=0.094
Qatari Global Study-wide 216 G=0.958 A=0.042
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.621 A=0.379
SGDP_PRJ Global Study-wide 120 G=0.392 A=0.608
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 42 G=0.90 A=0.10
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 12 G=0.50 A=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.p13 chr 11 NC_000011.10:g.108139200G>A
GRCh38.p13 chr 11 NC_000011.10:g.108139200G>C
GRCh37.p13 chr 11 NC_000011.9:g.108009927G>A
GRCh37.p13 chr 11 NC_000011.9:g.108009927G>C
ACAT1 RefSeqGene (LRG_1400) NG_009888.2:g.27496G>A
ACAT1 RefSeqGene (LRG_1400) NG_009888.2:g.27496G>C
Gene: ACAT1, acetyl-CoA acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACAT1 transcript variant 2 NM_000019.4:c.579+159G>A N/A Intron Variant
ACAT1 transcript variant 1 NM_001386677.1:c.579+159G…

NM_001386677.1:c.579+159G>A

N/A Intron Variant
ACAT1 transcript variant 3 NM_001386678.1:c.264+159G…

NM_001386678.1:c.264+159G>A

N/A Intron Variant
ACAT1 transcript variant 4 NM_001386679.1:c.282+159G…

NM_001386679.1:c.282+159G>A

N/A Intron Variant
ACAT1 transcript variant 5 NM_001386681.1:c.309+159G…

NM_001386681.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 6 NM_001386682.1:c.309+159G…

NM_001386682.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 7 NM_001386685.1:c.309+159G…

NM_001386685.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 8 NM_001386686.1:c.309+159G…

NM_001386686.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 9 NM_001386687.1:c.309+159G…

NM_001386687.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 10 NM_001386688.1:c.309+159G…

NM_001386688.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 11 NM_001386689.1:c.309+159G…

NM_001386689.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 12 NM_001386690.1:c.309+159G…

NM_001386690.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 13 NM_001386691.1:c.309+159G…

NM_001386691.1:c.309+159G>A

N/A Intron Variant
ACAT1 transcript variant 14 NR_170162.1:n. N/A Intron Variant
ACAT1 transcript variant 15 NR_170163.1:n. N/A Intron Variant
ACAT1 transcript variant X8 XM_017017682.2:c.201+159G…

XM_017017682.2:c.201+159G>A

N/A Intron Variant
ACAT1 transcript variant X6 XM_024448514.1:c.309+159G…

XM_024448514.1:c.309+159G>A

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 G= A C
GRCh38.p13 chr 11 NC_000011.10:g.108139200= NC_000011.10:g.108139200G>A NC_000011.10:g.108139200G>C
GRCh37.p13 chr 11 NC_000011.9:g.108009927= NC_000011.9:g.108009927G>A NC_000011.9:g.108009927G>C
ACAT1 RefSeqGene (LRG_1400) NG_009888.2:g.27496= NG_009888.2:g.27496G>A NG_009888.2:g.27496G>C
ACAT1 transcript NM_000019.3:c.579+159= NM_000019.3:c.579+159G>A NM_000019.3:c.579+159G>C
ACAT1 transcript variant 2 NM_000019.4:c.579+159= NM_000019.4:c.579+159G>A NM_000019.4:c.579+159G>C
ACAT1 transcript variant 1 NM_001386677.1:c.579+159= NM_001386677.1:c.579+159G>A NM_001386677.1:c.579+159G>C
ACAT1 transcript variant 3 NM_001386678.1:c.264+159= NM_001386678.1:c.264+159G>A NM_001386678.1:c.264+159G>C
ACAT1 transcript variant 4 NM_001386679.1:c.282+159= NM_001386679.1:c.282+159G>A NM_001386679.1:c.282+159G>C
ACAT1 transcript variant 5 NM_001386681.1:c.309+159= NM_001386681.1:c.309+159G>A NM_001386681.1:c.309+159G>C
ACAT1 transcript variant 6 NM_001386682.1:c.309+159= NM_001386682.1:c.309+159G>A NM_001386682.1:c.309+159G>C
ACAT1 transcript variant 7 NM_001386685.1:c.309+159= NM_001386685.1:c.309+159G>A NM_001386685.1:c.309+159G>C
ACAT1 transcript variant 8 NM_001386686.1:c.309+159= NM_001386686.1:c.309+159G>A NM_001386686.1:c.309+159G>C
ACAT1 transcript variant 9 NM_001386687.1:c.309+159= NM_001386687.1:c.309+159G>A NM_001386687.1:c.309+159G>C
ACAT1 transcript variant 10 NM_001386688.1:c.309+159= NM_001386688.1:c.309+159G>A NM_001386688.1:c.309+159G>C
ACAT1 transcript variant 11 NM_001386689.1:c.309+159= NM_001386689.1:c.309+159G>A NM_001386689.1:c.309+159G>C
ACAT1 transcript variant 12 NM_001386690.1:c.309+159= NM_001386690.1:c.309+159G>A NM_001386690.1:c.309+159G>C
ACAT1 transcript variant 13 NM_001386691.1:c.309+159= NM_001386691.1:c.309+159G>A NM_001386691.1:c.309+159G>C
ACAT1 transcript variant X8 XM_017017682.2:c.201+159= XM_017017682.2:c.201+159G>A XM_017017682.2:c.201+159G>C
ACAT1 transcript variant X6 XM_024448514.1:c.309+159= XM_024448514.1:c.309+159G>A XM_024448514.1:c.309+159G>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#.

93 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4927053 Aug 28, 2002 (107)
2 SNP500CANCER ss48292410 Mar 14, 2006 (126)
3 ILLUMINA ss66778863 Dec 01, 2006 (127)
4 ILLUMINA ss67298405 Dec 01, 2006 (127)
5 ILLUMINA ss67702984 Dec 01, 2006 (127)
6 ILLUMINA ss70777035 May 26, 2008 (130)
7 ILLUMINA ss71353153 May 17, 2007 (127)
8 ILLUMINA ss75759050 Dec 06, 2007 (129)
9 CGM_KYOTO ss76876833 Dec 06, 2007 (129)
10 ILLUMINA ss79163877 Dec 15, 2007 (130)
11 KRIBB_YJKIM ss84162984 Dec 15, 2007 (130)
12 BGI ss102999047 Dec 01, 2009 (131)
13 1000GENOMES ss111046335 Jan 25, 2009 (130)
14 ILLUMINA ss122203057 Dec 01, 2009 (131)
15 ILLUMINA ss154264196 Dec 01, 2009 (131)
16 ILLUMINA ss159441038 Dec 01, 2009 (131)
17 ILLUMINA ss160634111 Dec 01, 2009 (131)
18 ILLUMINA ss171618267 Jul 04, 2010 (132)
19 ILLUMINA ss173617831 Jul 04, 2010 (132)
20 1000GENOMES ss225451135 Jul 14, 2010 (132)
21 1000GENOMES ss235711923 Jul 15, 2010 (132)
22 1000GENOMES ss242311363 Jul 15, 2010 (132)
23 ILLUMINA ss244296210 Jul 04, 2010 (132)
24 GMI ss281164080 May 04, 2012 (137)
25 ILLUMINA ss480808105 May 04, 2012 (137)
26 ILLUMINA ss480823803 May 04, 2012 (137)
27 ILLUMINA ss481751306 Sep 08, 2015 (146)
28 ILLUMINA ss485198873 May 04, 2012 (137)
29 ILLUMINA ss537186358 Sep 08, 2015 (146)
30 TISHKOFF ss562813379 Apr 25, 2013 (138)
31 SSMP ss658336016 Apr 25, 2013 (138)
32 ILLUMINA ss778893858 Sep 08, 2015 (146)
33 ILLUMINA ss783045442 Sep 08, 2015 (146)
34 ILLUMINA ss784004402 Sep 08, 2015 (146)
35 ILLUMINA ss825494395 Apr 01, 2015 (144)
36 ILLUMINA ss832303220 Sep 08, 2015 (146)
37 ILLUMINA ss832952613 Jul 13, 2019 (153)
38 ILLUMINA ss834355014 Sep 08, 2015 (146)
39 EVA-GONL ss988941120 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1078029656 Aug 21, 2014 (142)
41 1000GENOMES ss1342876772 Aug 21, 2014 (142)
42 EVA_GENOME_DK ss1575941991 Apr 01, 2015 (144)
43 EVA_DECODE ss1598605738 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1627414168 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1670408201 Apr 01, 2015 (144)
46 EVA_MGP ss1711307901 Apr 01, 2015 (144)
47 EVA_SVP ss1713283229 Apr 01, 2015 (144)
48 ILLUMINA ss1751993047 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1932302771 Feb 12, 2016 (147)
50 GENOMED ss1967454178 Jul 19, 2016 (147)
51 JJLAB ss2026896417 Sep 14, 2016 (149)
52 USC_VALOUEV ss2155208875 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2185520164 Dec 20, 2016 (150)
54 TOPMED ss2349108243 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2627922611 Nov 08, 2017 (151)
56 ILLUMINA ss2632884882 Nov 08, 2017 (151)
57 GRF ss2699516134 Nov 08, 2017 (151)
58 GNOMAD ss2904207410 Nov 08, 2017 (151)
59 SWEGEN ss3008746359 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3027248488 Nov 08, 2017 (151)
61 TOPMED ss3155815644 Nov 08, 2017 (151)
62 CSHL ss3349786129 Nov 08, 2017 (151)
63 ILLUMINA ss3626745320 Oct 12, 2018 (152)
64 ILLUMINA ss3630899143 Oct 12, 2018 (152)
65 ILLUMINA ss3632998747 Oct 12, 2018 (152)
66 ILLUMINA ss3633698674 Oct 12, 2018 (152)
67 ILLUMINA ss3634474226 Oct 12, 2018 (152)
68 ILLUMINA ss3636158442 Oct 12, 2018 (152)
69 ILLUMINA ss3637140871 Oct 12, 2018 (152)
70 ILLUMINA ss3637929194 Oct 12, 2018 (152)
71 ILLUMINA ss3638978467 Oct 12, 2018 (152)
72 ILLUMINA ss3639490448 Oct 12, 2018 (152)
73 ILLUMINA ss3640181562 Oct 12, 2018 (152)
74 ILLUMINA ss3642925750 Oct 12, 2018 (152)
75 EGCUT_WGS ss3676070916 Jul 13, 2019 (153)
76 EVA_DECODE ss3692558315 Jul 13, 2019 (153)
77 ACPOP ss3738524034 Jul 13, 2019 (153)
78 ILLUMINA ss3744775007 Jul 13, 2019 (153)
79 EVA ss3749785272 Jul 13, 2019 (153)
80 ILLUMINA ss3772274788 Jul 13, 2019 (153)
81 KHV_HUMAN_GENOMES ss3815118097 Jul 13, 2019 (153)
82 EVA ss3832829916 Apr 26, 2020 (154)
83 EVA ss3839976904 Apr 26, 2020 (154)
84 EVA ss3845458321 Apr 26, 2020 (154)
85 HGDP ss3847430807 Apr 26, 2020 (154)
86 SGDP_PRJ ss3877094982 Apr 26, 2020 (154)
87 KRGDB ss3925543042 Apr 26, 2020 (154)
88 KOGIC ss3970705139 Apr 26, 2020 (154)
89 EVA ss3984656943 Apr 27, 2021 (155)
90 EVA ss3985555825 Apr 27, 2021 (155)
91 EVA ss4017557907 Apr 27, 2021 (155)
92 TOPMED ss4899188428 Apr 27, 2021 (155)
93 TOMMO_GENOMICS ss5203792792 Apr 27, 2021 (155)
94 1000Genomes NC_000011.9 - 108009927 Oct 12, 2018 (152)
95 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 108009927 Oct 12, 2018 (152)
96 Genetic variation in the Estonian population NC_000011.9 - 108009927 Oct 12, 2018 (152)
97 The Danish reference pan genome NC_000011.9 - 108009927 Apr 26, 2020 (154)
98 gnomAD - Genomes NC_000011.10 - 108139200 Apr 27, 2021 (155)
99 Genome of the Netherlands Release 5 NC_000011.9 - 108009927 Apr 26, 2020 (154)
100 HGDP-CEPH-db Supplement 1 NC_000011.8 - 107515137 Apr 26, 2020 (154)
101 HapMap NC_000011.10 - 108139200 Apr 26, 2020 (154)
102 KOREAN population from KRGDB NC_000011.9 - 108009927 Apr 26, 2020 (154)
103 Korean Genome Project NC_000011.10 - 108139200 Apr 26, 2020 (154)
104 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 108009927 Apr 26, 2020 (154)
105 Northern Sweden NC_000011.9 - 108009927 Jul 13, 2019 (153)
106 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 108009927 Apr 27, 2021 (155)
107 CNV burdens in cranial meningiomas NC_000011.9 - 108009927 Apr 27, 2021 (155)
108 Qatari NC_000011.9 - 108009927 Apr 26, 2020 (154)
109 SGDP_PRJ NC_000011.9 - 108009927 Apr 26, 2020 (154)
110 Siberian NC_000011.9 - 108009927 Apr 26, 2020 (154)
111 8.3KJPN NC_000011.9 - 108009927 Apr 27, 2021 (155)
112 TopMed NC_000011.10 - 108139200 Apr 27, 2021 (155)
113 UK 10K study - Twins NC_000011.9 - 108009927 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000011.9 - 108009927 Jul 13, 2019 (153)
115 ALFA NC_000011.10 - 108139200 Apr 27, 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)
rs60804253 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
108699, ss111046335, ss281164080, ss480808105, ss825494395, ss1598605738, ss1713283229, ss3638978467, ss3639490448, ss3642925750, ss3847430807 NC_000011.8:107515136:G:A NC_000011.10:108139199:G:A (self)
55455916, 30778819, 21809164, 2728123, 13738507, 32720436, 423661, 11808899, 781752, 206427, 14344701, 29111962, 7725229, 61762099, 30778819, 6832716, ss225451135, ss235711923, ss242311363, ss480823803, ss481751306, ss485198873, ss537186358, ss562813379, ss658336016, ss778893858, ss783045442, ss784004402, ss832303220, ss832952613, ss834355014, ss988941120, ss1078029656, ss1342876772, ss1575941991, ss1627414168, ss1670408201, ss1711307901, ss1751993047, ss1932302771, ss1967454178, ss2026896417, ss2155208875, ss2349108243, ss2627922611, ss2632884882, ss2699516134, ss2904207410, ss3008746359, ss3349786129, ss3626745320, ss3630899143, ss3632998747, ss3633698674, ss3634474226, ss3636158442, ss3637140871, ss3637929194, ss3640181562, ss3676070916, ss3738524034, ss3744775007, ss3749785272, ss3772274788, ss3832829916, ss3839976904, ss3877094982, ss3925543042, ss3984656943, ss3985555825, ss4017557907, ss5203792792 NC_000011.9:108009926:G:A NC_000011.10:108139199:G:A (self)
391322733, 694388, 27083140, 71939279, 114734084, 12575419354, ss2185520164, ss3027248488, ss3155815644, ss3692558315, ss3815118097, ss3845458321, ss3970705139, ss4899188428 NC_000011.10:108139199:G:A NC_000011.10:108139199:G:A (self)
ss4927053, ss48292410, ss66778863, ss67298405, ss67702984, ss70777035, ss71353153, ss75759050, ss76876833, ss79163877, ss84162984, ss102999047, ss122203057, ss154264196, ss159441038, ss160634111, ss171618267, ss173617831, ss244296210 NT_033899.8:11572342:G:A NC_000011.10:108139199:G:A (self)
32720436, ss3925543042 NC_000011.9:108009926:G:C NC_000011.10:108139199:G:C (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 rs3741049

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.post676+237644a