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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.

rs1411771

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:232039029 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.370105 (97963/264690, TOPMED)
C=0.306579 (59044/192590, ALFA)
C=0.364908 (51120/140090, GnomAD) (+ 22 more)
C=0.30963 (8749/28256, 14KJPN)
C=0.30877 (5175/16760, 8.3KJPN)
C=0.3687 (2361/6404, 1000G_30x)
C=0.3664 (1835/5008, 1000G)
C=0.2685 (1203/4480, Estonian)
C=0.2992 (1153/3854, ALSPAC)
C=0.2937 (1089/3708, TWINSUK)
C=0.3259 (955/2930, KOREAN)
C=0.3225 (672/2084, HGDP_Stanford)
C=0.4275 (808/1890, HapMap)
C=0.3106 (569/1832, Korea1K)
C=0.2672 (303/1134, Daghestan)
C=0.299 (298/998, GoNL)
C=0.332 (260/782, PRJEB37584)
C=0.265 (159/600, NorthernSweden)
T=0.379 (110/290, SGDP_PRJ)
C=0.403 (87/216, Qatari)
C=0.352 (74/210, Vietnamese)
C=0.27 (14/52, Ancient Sardinia)
C=0.33 (13/40, GENOME_DK)
T=0.50 (11/22, Siberian)
C=0.50 (11/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSNAX-DISC1 : Non Coding Transcript Variant
DISC1 : 3 Prime UTR Variant
Publications
5 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 192590 T=0.693421 C=0.306579
European Sub 163032 T=0.705082 C=0.294918
African Sub 9792 T=0.4808 C=0.5192
African Others Sub 340 T=0.424 C=0.576
African American Sub 9452 T=0.4829 C=0.5171
Asian Sub 416 T=0.661 C=0.339
East Asian Sub 302 T=0.695 C=0.305
Other Asian Sub 114 T=0.570 C=0.430
Latin American 1 Sub 812 T=0.615 C=0.385
Latin American 2 Sub 6674 T=0.7248 C=0.2752
South Asian Sub 5014 T=0.7320 C=0.2680
Other Sub 6850 T=0.6724 C=0.3276


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 T=0.629895 C=0.370105
Allele Frequency Aggregator Total Global 192590 T=0.693421 C=0.306579
Allele Frequency Aggregator European Sub 163032 T=0.705082 C=0.294918
Allele Frequency Aggregator African Sub 9792 T=0.4808 C=0.5192
Allele Frequency Aggregator Other Sub 6850 T=0.6724 C=0.3276
Allele Frequency Aggregator Latin American 2 Sub 6674 T=0.7248 C=0.2752
Allele Frequency Aggregator South Asian Sub 5014 T=0.7320 C=0.2680
Allele Frequency Aggregator Latin American 1 Sub 812 T=0.615 C=0.385
Allele Frequency Aggregator Asian Sub 416 T=0.661 C=0.339
gnomAD - Genomes Global Study-wide 140090 T=0.635092 C=0.364908
gnomAD - Genomes European Sub 75886 T=0.70514 C=0.29486
gnomAD - Genomes African Sub 41960 T=0.48108 C=0.51892
gnomAD - Genomes American Sub 13648 T=0.69006 C=0.30994
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.7234 C=0.2766
gnomAD - Genomes East Asian Sub 3122 T=0.6621 C=0.3379
gnomAD - Genomes Other Sub 2152 T=0.6441 C=0.3559
14KJPN JAPANESE Study-wide 28256 T=0.69037 C=0.30963
8.3KJPN JAPANESE Study-wide 16760 T=0.69123 C=0.30877
1000Genomes_30x Global Study-wide 6404 T=0.6313 C=0.3687
1000Genomes_30x African Sub 1786 T=0.4541 C=0.5459
1000Genomes_30x Europe Sub 1266 T=0.7125 C=0.2875
1000Genomes_30x South Asian Sub 1202 T=0.7246 C=0.2754
1000Genomes_30x East Asian Sub 1170 T=0.6718 C=0.3282
1000Genomes_30x American Sub 980 T=0.687 C=0.313
1000Genomes Global Study-wide 5008 T=0.6336 C=0.3664
1000Genomes African Sub 1322 T=0.4508 C=0.5492
1000Genomes East Asian Sub 1008 T=0.6786 C=0.3214
1000Genomes Europe Sub 1006 T=0.7117 C=0.2883
1000Genomes South Asian Sub 978 T=0.717 C=0.283
1000Genomes American Sub 694 T=0.686 C=0.314
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7315 C=0.2685
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7008 C=0.2992
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7063 C=0.2937
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6741 C=0.3259
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.6775 C=0.3225
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.677 C=0.323
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.732 C=0.268
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.703 C=0.297
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.656 C=0.344
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.463 C=0.537
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.745 C=0.255
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.86 C=0.14
HapMap Global Study-wide 1890 T=0.5725 C=0.4275
HapMap American Sub 770 T=0.665 C=0.335
HapMap African Sub 690 T=0.400 C=0.600
HapMap Asian Sub 254 T=0.689 C=0.311
HapMap Europe Sub 176 T=0.676 C=0.324
Korean Genome Project KOREAN Study-wide 1832 T=0.6894 C=0.3106
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.7328 C=0.2672
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.750 C=0.250
Genome-wide autozygosity in Daghestan Near_East Sub 142 T=0.725 C=0.275
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.672 C=0.328
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.704 C=0.296
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.76 C=0.24
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.69 C=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.701 C=0.299
CNV burdens in cranial meningiomas Global Study-wide 782 T=0.668 C=0.332
CNV burdens in cranial meningiomas CRM Sub 782 T=0.668 C=0.332
Northern Sweden ACPOP Study-wide 600 T=0.735 C=0.265
SGDP_PRJ Global Study-wide 290 T=0.379 C=0.621
Qatari Global Study-wide 216 T=0.597 C=0.403
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.648 C=0.352
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 52 T=0.73 C=0.27
The Danish reference pan genome Danish Study-wide 40 T=0.68 C=0.33
Siberian Global Study-wide 22 T=0.50 C=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 1 NC_000001.11:g.232039029T>C
GRCh37.p13 chr 1 NC_000001.10:g.232174775T>C
DISC1 RefSeqGene NG_011681.2:g.417215T>C
Gene: DISC1, DISC1 scaffold protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DISC1 transcript variant d NM_001164540.2:c.*2198= N/A 3 Prime UTR Variant
DISC1 transcript variant L NM_018662.3:c.*2198= N/A 3 Prime UTR Variant
DISC1 transcript variant a NM_001164537.2:c.*2198= N/A 3 Prime UTR Variant
DISC1 transcript variant Lv NM_001012957.2:c.*2198= N/A 3 Prime UTR Variant
DISC1 transcript variant Es NM_001012958.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant S NM_001012959.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant b NM_001164538.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant c NM_001164539.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant e NM_001164541.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant f NM_001164542.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant g NM_001164544.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant h NM_001164545.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant i NM_001164546.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant j NM_001164547.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant k NM_001164548.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant l NM_001164549.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant m NM_001164550.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant n NM_001164551.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant o NM_001164552.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant p NM_001164553.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant q NM_001164554.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant r NM_001164555.2:c. N/A Genic Downstream Transcript Variant
DISC1 transcript variant t NM_001164556.2:c. N/A Genic Downstream Transcript Variant
Gene: TSNAX-DISC1, TSNAX-DISC1 readthrough (NMD candidate) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSNAX-DISC1 transcript variant 1 NR_028393.1:n.5429T>C N/A Non Coding Transcript Variant
TSNAX-DISC1 transcript variant 2 NR_028394.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 3 NR_028395.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 4 NR_028396.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 5 NR_028397.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 6 NR_028398.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 7 NR_028399.1:n. N/A Genic Downstream Transcript Variant
TSNAX-DISC1 transcript variant 8 NR_028400.1:n. N/A Genic Downstream Transcript 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 T= C
GRCh38.p14 chr 1 NC_000001.11:g.232039029= NC_000001.11:g.232039029T>C
GRCh37.p13 chr 1 NC_000001.10:g.232174775= NC_000001.10:g.232174775T>C
DISC1 RefSeqGene NG_011681.2:g.417215= NG_011681.2:g.417215T>C
DISC1 transcript variant L NM_018662.3:c.*2198= NM_018662.3:c.*2198T>C
DISC1 transcript variant L NM_018662.2:c.*2198= NM_018662.2:c.*2198T>C
DISC1 transcript variant a NM_001164537.2:c.*2198= NM_001164537.2:c.*2198T>C
DISC1 transcript variant a NM_001164537.1:c.*2198= NM_001164537.1:c.*2198T>C
DISC1 transcript variant Lv NM_001012957.2:c.*2198= NM_001012957.2:c.*2198T>C
DISC1 transcript variant Lv NM_001012957.1:c.*2198= NM_001012957.1:c.*2198T>C
DISC1 transcript variant d NM_001164540.2:c.*2198= NM_001164540.2:c.*2198T>C
DISC1 transcript variant d NM_001164540.1:c.*2198= NM_001164540.1:c.*2198T>C
TSNAX-DISC1 transcript variant 1 NR_028393.1:n.5429= NR_028393.1:n.5429T>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#.

131 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2213090 Oct 23, 2000 (88)
2 CSHL-HAPMAP ss19147382 Feb 27, 2004 (120)
3 PERLEGEN ss23245479 Sep 20, 2004 (123)
4 ABI ss43814392 Mar 14, 2006 (126)
5 ILLUMINA ss65737422 Oct 16, 2006 (127)
6 ILLUMINA ss66704032 Dec 01, 2006 (127)
7 ILLUMINA ss67098419 Dec 01, 2006 (127)
8 ILLUMINA ss67433422 Dec 01, 2006 (127)
9 ILLUMINA ss70430499 May 18, 2007 (127)
10 ILLUMINA ss70614997 May 23, 2008 (130)
11 ILLUMINA ss71162900 May 18, 2007 (127)
12 ILLUMINA ss75650026 Dec 07, 2007 (129)
13 SI_EXO ss76883278 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss83761426 Dec 14, 2007 (130)
15 HGSV ss85011870 Dec 14, 2007 (130)
16 HGSV ss86092796 Dec 14, 2007 (130)
17 1000GENOMES ss111928756 Jan 25, 2009 (130)
18 ILLUMINA-UK ss119244764 Feb 15, 2009 (130)
19 ILLUMINA ss121685289 Dec 01, 2009 (131)
20 ILLUMINA ss153422201 Dec 01, 2009 (131)
21 GMI ss156411977 Dec 01, 2009 (131)
22 ILLUMINA ss159266737 Dec 01, 2009 (131)
23 ILLUMINA ss160349497 Dec 01, 2009 (131)
24 ENSEMBL ss161228441 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss165390712 Jul 04, 2010 (132)
26 ILLUMINA ss170480179 Jul 04, 2010 (132)
27 ILLUMINA ss172481922 Jul 04, 2010 (132)
28 BUSHMAN ss199742446 Jul 04, 2010 (132)
29 1000GENOMES ss218938937 Jul 14, 2010 (132)
30 1000GENOMES ss230944752 Jul 14, 2010 (132)
31 1000GENOMES ss238550677 Jul 15, 2010 (132)
32 GMI ss276259758 May 04, 2012 (137)
33 PJP ss290755190 May 09, 2011 (134)
34 ILLUMINA ss479962785 May 04, 2012 (137)
35 ILLUMINA ss479971286 May 04, 2012 (137)
36 ILLUMINA ss480615839 Sep 08, 2015 (146)
37 ILLUMINA ss484779652 May 04, 2012 (137)
38 ILLUMINA ss536867164 Sep 08, 2015 (146)
39 TISHKOFF ss555206637 Apr 25, 2013 (138)
40 SSMP ss648779383 Apr 25, 2013 (138)
41 ILLUMINA ss778805456 Aug 21, 2014 (142)
42 ILLUMINA ss782836496 Aug 21, 2014 (142)
43 ILLUMINA ss783801221 Aug 21, 2014 (142)
44 ILLUMINA ss825399773 Apr 01, 2015 (144)
45 ILLUMINA ss832090102 Apr 01, 2015 (144)
46 ILLUMINA ss832778931 Aug 21, 2014 (142)
47 ILLUMINA ss833369761 Aug 21, 2014 (142)
48 ILLUMINA ss834265665 Aug 21, 2014 (142)
49 EVA-GONL ss976256443 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1068686139 Aug 21, 2014 (142)
51 1000GENOMES ss1295072744 Aug 21, 2014 (142)
52 HAMMER_LAB ss1397275479 Sep 08, 2015 (146)
53 DDI ss1426143790 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1574749305 Apr 01, 2015 (144)
55 EVA_DECODE ss1585656260 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1602364962 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1645358995 Apr 01, 2015 (144)
58 EVA_SVP ss1712413701 Apr 01, 2015 (144)
59 ILLUMINA ss1751905020 Sep 08, 2015 (146)
60 HAMMER_LAB ss1795879143 Sep 08, 2015 (146)
61 WEILL_CORNELL_DGM ss1919477723 Feb 12, 2016 (147)
62 GENOMED ss1966999087 Jul 19, 2016 (147)
63 JJLAB ss2020264119 Sep 14, 2016 (149)
64 CSHL ss2136846040 Nov 08, 2017 (151)
65 USC_VALOUEV ss2148300198 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2170958138 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2624644217 Nov 08, 2017 (151)
68 ILLUMINA ss2632643058 Nov 08, 2017 (151)
69 GRF ss2698300659 Nov 08, 2017 (151)
70 GNOMAD ss2767415522 Nov 08, 2017 (151)
71 SWEGEN ss2988624249 Nov 08, 2017 (151)
72 ILLUMINA ss3021191185 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3023892946 Nov 08, 2017 (151)
74 CSHL ss3343961303 Nov 08, 2017 (151)
75 ILLUMINA ss3626333172 Oct 11, 2018 (152)
76 ILLUMINA ss3630672188 Oct 11, 2018 (152)
77 ILLUMINA ss3632929466 Oct 11, 2018 (152)
78 ILLUMINA ss3633625719 Oct 11, 2018 (152)
79 ILLUMINA ss3634378620 Oct 11, 2018 (152)
80 ILLUMINA ss3635318723 Oct 11, 2018 (152)
81 ILLUMINA ss3636057568 Oct 11, 2018 (152)
82 ILLUMINA ss3637069277 Oct 11, 2018 (152)
83 ILLUMINA ss3637820388 Oct 11, 2018 (152)
84 ILLUMINA ss3638925189 Oct 11, 2018 (152)
85 ILLUMINA ss3639461613 Oct 11, 2018 (152)
86 ILLUMINA ss3640085973 Oct 11, 2018 (152)
87 ILLUMINA ss3642826295 Oct 11, 2018 (152)
88 ILLUMINA ss3651536879 Oct 11, 2018 (152)
89 EGCUT_WGS ss3656583238 Jul 12, 2019 (153)
90 EVA_DECODE ss3688837762 Jul 12, 2019 (153)
91 ILLUMINA ss3725115414 Jul 12, 2019 (153)
92 ACPOP ss3727954361 Jul 12, 2019 (153)
93 ILLUMINA ss3744679523 Jul 12, 2019 (153)
94 EVA ss3747469410 Jul 12, 2019 (153)
95 ILLUMINA ss3772180325 Jul 12, 2019 (153)
96 PACBIO ss3783715907 Jul 12, 2019 (153)
97 PACBIO ss3789323442 Jul 12, 2019 (153)
98 PACBIO ss3794195854 Jul 12, 2019 (153)
99 KHV_HUMAN_GENOMES ss3800471230 Jul 12, 2019 (153)
100 EVA ss3825590958 Apr 25, 2020 (154)
101 EVA ss3826698776 Apr 25, 2020 (154)
102 EVA ss3836751162 Apr 25, 2020 (154)
103 EVA ss3842163647 Apr 25, 2020 (154)
104 HGDP ss3847366891 Apr 25, 2020 (154)
105 SGDP_PRJ ss3851117946 Apr 25, 2020 (154)
106 KRGDB ss3896466364 Apr 25, 2020 (154)
107 KOGIC ss3946712810 Apr 25, 2020 (154)
108 EVA ss3984473828 Apr 25, 2021 (155)
109 EVA ss3984858802 Apr 25, 2021 (155)
110 EVA ss4016968001 Apr 25, 2021 (155)
111 TOPMED ss4487280095 Apr 25, 2021 (155)
112 TOMMO_GENOMICS ss5148917649 Apr 25, 2021 (155)
113 EVA ss5237283809 Apr 25, 2021 (155)
114 1000G_HIGH_COVERAGE ss5246164771 Oct 12, 2022 (156)
115 EVA ss5314690779 Oct 12, 2022 (156)
116 EVA ss5325464963 Oct 12, 2022 (156)
117 HUGCELL_USP ss5446564061 Oct 12, 2022 (156)
118 EVA ss5506227340 Oct 12, 2022 (156)
119 1000G_HIGH_COVERAGE ss5520447361 Oct 12, 2022 (156)
120 SANFORD_IMAGENETICS ss5624232876 Oct 12, 2022 (156)
121 SANFORD_IMAGENETICS ss5627656352 Oct 12, 2022 (156)
122 TOMMO_GENOMICS ss5676819000 Oct 12, 2022 (156)
123 EVA ss5799515014 Oct 12, 2022 (156)
124 YY_MCH ss5801733293 Oct 12, 2022 (156)
125 EVA ss5833411610 Oct 12, 2022 (156)
126 EVA ss5847176554 Oct 12, 2022 (156)
127 EVA ss5847578275 Oct 12, 2022 (156)
128 EVA ss5849332559 Oct 12, 2022 (156)
129 EVA ss5912399189 Oct 12, 2022 (156)
130 EVA ss5939504819 Oct 12, 2022 (156)
131 EVA ss5979308557 Oct 12, 2022 (156)
132 1000Genomes NC_000001.10 - 232174775 Oct 11, 2018 (152)
133 1000Genomes_30x NC_000001.11 - 232039029 Oct 12, 2022 (156)
134 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 232174775 Oct 11, 2018 (152)
135 Genome-wide autozygosity in Daghestan NC_000001.9 - 230241398 Apr 25, 2020 (154)
136 Genetic variation in the Estonian population NC_000001.10 - 232174775 Oct 11, 2018 (152)
137 The Danish reference pan genome NC_000001.10 - 232174775 Apr 25, 2020 (154)
138 gnomAD - Genomes NC_000001.11 - 232039029 Apr 25, 2021 (155)
139 Genome of the Netherlands Release 5 NC_000001.10 - 232174775 Apr 25, 2020 (154)
140 HGDP-CEPH-db Supplement 1 NC_000001.9 - 230241398 Apr 25, 2020 (154)
141 HapMap NC_000001.11 - 232039029 Apr 25, 2020 (154)
142 KOREAN population from KRGDB NC_000001.10 - 232174775 Apr 25, 2020 (154)
143 Korean Genome Project NC_000001.11 - 232039029 Apr 25, 2020 (154)
144 Northern Sweden NC_000001.10 - 232174775 Jul 12, 2019 (153)
145 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 232174775 Apr 25, 2021 (155)
146 CNV burdens in cranial meningiomas NC_000001.10 - 232174775 Apr 25, 2021 (155)
147 Qatari NC_000001.10 - 232174775 Apr 25, 2020 (154)
148 SGDP_PRJ NC_000001.10 - 232174775 Apr 25, 2020 (154)
149 Siberian NC_000001.10 - 232174775 Apr 25, 2020 (154)
150 8.3KJPN NC_000001.10 - 232174775 Apr 25, 2021 (155)
151 14KJPN NC_000001.11 - 232039029 Oct 12, 2022 (156)
152 TopMed NC_000001.11 - 232039029 Apr 25, 2021 (155)
153 UK 10K study - Twins NC_000001.10 - 232174775 Oct 11, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000001.10 - 232174775 Jul 12, 2019 (153)
155 ALFA NC_000001.11 - 232039029 Apr 25, 2021 (155)
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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)
rs56807169 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85011870, ss86092796, ss3638925189, ss3639461613 NC_000001.8:228481509:T:C NC_000001.11:232039028:T:C (self)
36577, 44783, ss111928756, ss119244764, ss160349497, ss165390712, ss199742446, ss276259758, ss290755190, ss479962785, ss825399773, ss1397275479, ss1585656260, ss1712413701, ss2136846040, ss3642826295, ss3847366891 NC_000001.9:230241397:T:C NC_000001.11:232039028:T:C (self)
5942619, 3286321, 2321486, 1929184, 1436536, 3643758, 1239226, 84729, 23150, 1519653, 3134926, 816552, 6886956, 3286321, 714788, ss218938937, ss230944752, ss238550677, ss479971286, ss480615839, ss484779652, ss536867164, ss555206637, ss648779383, ss778805456, ss782836496, ss783801221, ss832090102, ss832778931, ss833369761, ss834265665, ss976256443, ss1068686139, ss1295072744, ss1426143790, ss1574749305, ss1602364962, ss1645358995, ss1751905020, ss1795879143, ss1919477723, ss1966999087, ss2020264119, ss2148300198, ss2624644217, ss2632643058, ss2698300659, ss2767415522, ss2988624249, ss3021191185, ss3343961303, ss3626333172, ss3630672188, ss3632929466, ss3633625719, ss3634378620, ss3635318723, ss3636057568, ss3637069277, ss3637820388, ss3640085973, ss3651536879, ss3656583238, ss3727954361, ss3744679523, ss3747469410, ss3772180325, ss3783715907, ss3789323442, ss3794195854, ss3825590958, ss3826698776, ss3836751162, ss3851117946, ss3896466364, ss3984473828, ss3984858802, ss4016968001, ss5148917649, ss5237283809, ss5314690779, ss5325464963, ss5506227340, ss5624232876, ss5627656352, ss5799515014, ss5833411610, ss5847176554, ss5847578275, ss5939504819, ss5979308557 NC_000001.10:232174774:T:C NC_000001.11:232039028:T:C (self)
7973296, 42626597, 290070, 3090811, 10656104, 50886430, 11428236539, ss2170958138, ss3023892946, ss3688837762, ss3725115414, ss3800471230, ss3842163647, ss3946712810, ss4487280095, ss5246164771, ss5446564061, ss5520447361, ss5676819000, ss5801733293, ss5849332559, ss5912399189 NC_000001.11:232039028:T:C NC_000001.11:232039028:T:C (self)
ss76883278 NT_004559.13:8376928:T:C NC_000001.11:232039028:T:C (self)
ss19147382 NT_021973.16:2105763:T:C NC_000001.11:232039028:T:C (self)
ss2213090, ss23245479, ss43814392, ss65737422, ss66704032, ss67098419, ss67433422, ss70430499, ss70614997, ss71162900, ss75650026, ss83761426, ss121685289, ss153422201, ss156411977, ss159266737, ss161228441, ss170480179, ss172481922 NT_167186.1:25692553:T:C NC_000001.11:232039028:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs1411771
PMID Title Author Year Journal
17673452 Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments. Palo OM et al. 2007 Human molecular genetics
19944766 A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. Meda SA et al. 2010 NeuroImage
20084519 Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging. Nicodemus KK et al. 2010 Human genetics
21085053 Database of genetic studies of bipolar disorder. Piletz JE et al. 2011 Psychiatric genetics
21808609 Components of cross-frequency modulation in health and disease. Allen EA et al. 2011 Frontiers in systems neuroscience
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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.post761+d5e8e07