Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs77345245

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:231779147 (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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.089380 (23658/264690, TOPMED)
G=0.081283 (11392/140152, GnomAD)
G=0.08829 (6947/78686, PAGE_STUDY) (+ 18 more)
G=0.20548 (5806/28256, 14KJPN)
G=0.08046 (1592/19786, ALFA)
G=0.20316 (3405/16760, 8.3KJPN)
G=0.1182 (757/6404, 1000G_30x)
G=0.1194 (598/5008, 1000G)
G=0.0618 (277/4480, Estonian)
G=0.0950 (366/3854, ALSPAC)
G=0.0971 (360/3708, TWINSUK)
G=0.2297 (673/2930, KOREAN)
G=0.2396 (439/1832, Korea1K)
G=0.092 (92/998, GoNL)
G=0.107 (64/600, NorthernSweden)
G=0.148 (32/216, Qatari)
G=0.099 (21/212, Vietnamese)
A=0.431 (56/130, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
A=0.5 (4/8, Siberian)
G=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DISC1 : Intron Variant
TSNAX-DISC1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 19786 A=0.91954 G=0.08046, T=0.00000
European Sub 14232 A=0.91048 G=0.08952, T=0.00000
African Sub 3374 A=0.9793 G=0.0207, T=0.0000
African Others Sub 112 A=0.991 G=0.009, T=0.000
African American Sub 3262 A=0.9788 G=0.0212, T=0.0000
Asian Sub 150 A=0.873 G=0.127, T=0.000
East Asian Sub 122 A=0.869 G=0.131, T=0.000
Other Asian Sub 28 A=0.89 G=0.11, T=0.00
Latin American 1 Sub 154 A=0.877 G=0.123, T=0.000
Latin American 2 Sub 616 A=0.878 G=0.122, T=0.000
South Asian Sub 104 A=0.760 G=0.240, T=0.000
Other Sub 1156 A=0.9048 G=0.0952, T=0.0000


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=0.910620 G=0.089380
gnomAD - Genomes Global Study-wide 140152 A=0.918717 G=0.081283
gnomAD - Genomes European Sub 75892 A=0.90454 G=0.09546
gnomAD - Genomes African Sub 42018 A=0.97075 G=0.02925
gnomAD - Genomes American Sub 13646 A=0.87242 G=0.12758
gnomAD - Genomes Ashkenazi Jewish Sub 3316 A=0.8854 G=0.1146
gnomAD - Genomes East Asian Sub 3130 A=0.8125 G=0.1875
gnomAD - Genomes Other Sub 2150 A=0.9023 G=0.0977
The PAGE Study Global Study-wide 78686 A=0.91171 G=0.08829
The PAGE Study AfricanAmerican Sub 32510 A=0.96992 G=0.03008
The PAGE Study Mexican Sub 10806 A=0.88691 G=0.11309
The PAGE Study Asian Sub 8316 A=0.8000 G=0.2000
The PAGE Study PuertoRican Sub 7918 A=0.8829 G=0.1171
The PAGE Study NativeHawaiian Sub 4534 A=0.8685 G=0.1315
The PAGE Study Cuban Sub 4230 A=0.8846 G=0.1154
The PAGE Study Dominican Sub 3828 A=0.9214 G=0.0786
The PAGE Study CentralAmerican Sub 2450 A=0.8939 G=0.1061
The PAGE Study SouthAmerican Sub 1978 A=0.8918 G=0.1082
The PAGE Study NativeAmerican Sub 1260 A=0.8960 G=0.1040
The PAGE Study SouthAsian Sub 856 A=0.805 G=0.195
14KJPN JAPANESE Study-wide 28256 A=0.79452 G=0.20548
Allele Frequency Aggregator Total Global 19786 A=0.91954 G=0.08046, T=0.00000
Allele Frequency Aggregator European Sub 14232 A=0.91048 G=0.08952, T=0.00000
Allele Frequency Aggregator African Sub 3374 A=0.9793 G=0.0207, T=0.0000
Allele Frequency Aggregator Other Sub 1156 A=0.9048 G=0.0952, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 616 A=0.878 G=0.122, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 154 A=0.877 G=0.123, T=0.000
Allele Frequency Aggregator Asian Sub 150 A=0.873 G=0.127, T=0.000
Allele Frequency Aggregator South Asian Sub 104 A=0.760 G=0.240, T=0.000
8.3KJPN JAPANESE Study-wide 16760 A=0.79684 G=0.20316
1000Genomes_30x Global Study-wide 6404 A=0.8818 G=0.1182
1000Genomes_30x African Sub 1786 A=0.9832 G=0.0168
1000Genomes_30x Europe Sub 1266 A=0.8926 G=0.1074
1000Genomes_30x South Asian Sub 1202 A=0.7820 G=0.2180
1000Genomes_30x East Asian Sub 1170 A=0.8350 G=0.1650
1000Genomes_30x American Sub 980 A=0.861 G=0.139
1000Genomes Global Study-wide 5008 A=0.8806 G=0.1194
1000Genomes African Sub 1322 A=0.9811 G=0.0189
1000Genomes East Asian Sub 1008 A=0.8403 G=0.1597
1000Genomes Europe Sub 1006 A=0.8986 G=0.1014
1000Genomes South Asian Sub 978 A=0.783 G=0.217
1000Genomes American Sub 694 A=0.859 G=0.141
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9382 G=0.0618
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9050 G=0.0950
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9029 G=0.0971
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7703 G=0.2297
Korean Genome Project KOREAN Study-wide 1832 A=0.7604 G=0.2396
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.908 G=0.092
Northern Sweden ACPOP Study-wide 600 A=0.893 G=0.107
Qatari Global Study-wide 216 A=0.852 G=0.148
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.901 G=0.099
SGDP_PRJ Global Study-wide 130 A=0.431 G=0.569
The Danish reference pan genome Danish Study-wide 40 A=0.90 G=0.10
Siberian Global Study-wide 8 A=0.5 G=0.5
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.231779147A>G
GRCh38.p14 chr 1 NC_000001.11:g.231779147A>T
GRCh37.p13 chr 1 NC_000001.10:g.231914893A>G
GRCh37.p13 chr 1 NC_000001.10:g.231914893A>T
DISC1 RefSeqGene NG_011681.2:g.157333A>G
DISC1 RefSeqGene NG_011681.2:g.157333A>T
Gene: DISC1, DISC1 scaffold protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DISC1 transcript variant Lv NM_001012957.2:c.1634+807…

NM_001012957.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant S NM_001012959.2:c.1634+807…

NM_001012959.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant a NM_001164537.2:c.1730+807…

NM_001164537.2:c.1730+8077A>G

N/A Intron Variant
DISC1 transcript variant b NM_001164538.2:c.1634+807…

NM_001164538.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant c NM_001164539.2:c.1634+807…

NM_001164539.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant d NM_001164540.2:c.1269-160…

NM_001164540.2:c.1269-16095A>G

N/A Intron Variant
DISC1 transcript variant e NM_001164541.2:c.1634+807…

NM_001164541.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant f NM_001164542.2:c.1634+807…

NM_001164542.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant g NM_001164544.2:c.1634+807…

NM_001164544.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant h NM_001164545.2:c.1634+807…

NM_001164545.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant i NM_001164546.2:c.1634+807…

NM_001164546.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant j NM_001164547.2:c.1634+807…

NM_001164547.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant k NM_001164548.2:c.1634+807…

NM_001164548.2:c.1634+8077A>G

N/A Intron Variant
DISC1 transcript variant t NM_001164556.2:c.584+8077…

NM_001164556.2:c.584+8077A>G

N/A Intron Variant
DISC1 transcript variant L NM_018662.3:c.1634+8077A>G N/A Intron Variant
DISC1 transcript variant Es NM_001012958.2: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
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. N/A Intron Variant
TSNAX-DISC1 transcript variant 2 NR_028394.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 3 NR_028395.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 4 NR_028396.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 5 NR_028397.1:n. N/A Intron Variant
TSNAX-DISC1 transcript variant 6 NR_028398.1:n. N/A Intron 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 A= G T
GRCh38.p14 chr 1 NC_000001.11:g.231779147= NC_000001.11:g.231779147A>G NC_000001.11:g.231779147A>T
GRCh37.p13 chr 1 NC_000001.10:g.231914893= NC_000001.10:g.231914893A>G NC_000001.10:g.231914893A>T
DISC1 RefSeqGene NG_011681.2:g.157333= NG_011681.2:g.157333A>G NG_011681.2:g.157333A>T
DISC1 transcript variant Lv NM_001012957.1:c.1634+8077= NM_001012957.1:c.1634+8077A>G NM_001012957.1:c.1634+8077A>T
DISC1 transcript variant Lv NM_001012957.2:c.1634+8077= NM_001012957.2:c.1634+8077A>G NM_001012957.2:c.1634+8077A>T
DISC1 transcript variant S NM_001012959.1:c.1634+8077= NM_001012959.1:c.1634+8077A>G NM_001012959.1:c.1634+8077A>T
DISC1 transcript variant S NM_001012959.2:c.1634+8077= NM_001012959.2:c.1634+8077A>G NM_001012959.2:c.1634+8077A>T
DISC1 transcript variant a NM_001164537.1:c.1730+8077= NM_001164537.1:c.1730+8077A>G NM_001164537.1:c.1730+8077A>T
DISC1 transcript variant a NM_001164537.2:c.1730+8077= NM_001164537.2:c.1730+8077A>G NM_001164537.2:c.1730+8077A>T
DISC1 transcript variant b NM_001164538.1:c.1634+8077= NM_001164538.1:c.1634+8077A>G NM_001164538.1:c.1634+8077A>T
DISC1 transcript variant b NM_001164538.2:c.1634+8077= NM_001164538.2:c.1634+8077A>G NM_001164538.2:c.1634+8077A>T
DISC1 transcript variant c NM_001164539.1:c.1634+8077= NM_001164539.1:c.1634+8077A>G NM_001164539.1:c.1634+8077A>T
DISC1 transcript variant c NM_001164539.2:c.1634+8077= NM_001164539.2:c.1634+8077A>G NM_001164539.2:c.1634+8077A>T
DISC1 transcript variant d NM_001164540.1:c.1269-16095= NM_001164540.1:c.1269-16095A>G NM_001164540.1:c.1269-16095A>T
DISC1 transcript variant d NM_001164540.2:c.1269-16095= NM_001164540.2:c.1269-16095A>G NM_001164540.2:c.1269-16095A>T
DISC1 transcript variant e NM_001164541.1:c.1634+8077= NM_001164541.1:c.1634+8077A>G NM_001164541.1:c.1634+8077A>T
DISC1 transcript variant e NM_001164541.2:c.1634+8077= NM_001164541.2:c.1634+8077A>G NM_001164541.2:c.1634+8077A>T
DISC1 transcript variant f NM_001164542.1:c.1634+8077= NM_001164542.1:c.1634+8077A>G NM_001164542.1:c.1634+8077A>T
DISC1 transcript variant f NM_001164542.2:c.1634+8077= NM_001164542.2:c.1634+8077A>G NM_001164542.2:c.1634+8077A>T
DISC1 transcript variant g NM_001164544.1:c.1634+8077= NM_001164544.1:c.1634+8077A>G NM_001164544.1:c.1634+8077A>T
DISC1 transcript variant g NM_001164544.2:c.1634+8077= NM_001164544.2:c.1634+8077A>G NM_001164544.2:c.1634+8077A>T
DISC1 transcript variant h NM_001164545.1:c.1634+8077= NM_001164545.1:c.1634+8077A>G NM_001164545.1:c.1634+8077A>T
DISC1 transcript variant h NM_001164545.2:c.1634+8077= NM_001164545.2:c.1634+8077A>G NM_001164545.2:c.1634+8077A>T
DISC1 transcript variant i NM_001164546.1:c.1634+8077= NM_001164546.1:c.1634+8077A>G NM_001164546.1:c.1634+8077A>T
DISC1 transcript variant i NM_001164546.2:c.1634+8077= NM_001164546.2:c.1634+8077A>G NM_001164546.2:c.1634+8077A>T
DISC1 transcript variant j NM_001164547.1:c.1634+8077= NM_001164547.1:c.1634+8077A>G NM_001164547.1:c.1634+8077A>T
DISC1 transcript variant j NM_001164547.2:c.1634+8077= NM_001164547.2:c.1634+8077A>G NM_001164547.2:c.1634+8077A>T
DISC1 transcript variant k NM_001164548.1:c.1634+8077= NM_001164548.1:c.1634+8077A>G NM_001164548.1:c.1634+8077A>T
DISC1 transcript variant k NM_001164548.2:c.1634+8077= NM_001164548.2:c.1634+8077A>G NM_001164548.2:c.1634+8077A>T
DISC1 transcript variant t NM_001164556.1:c.584+8077= NM_001164556.1:c.584+8077A>G NM_001164556.1:c.584+8077A>T
DISC1 transcript variant t NM_001164556.2:c.584+8077= NM_001164556.2:c.584+8077A>G NM_001164556.2:c.584+8077A>T
DISC1 transcript variant L NM_018662.2:c.1634+8077= NM_018662.2:c.1634+8077A>G NM_018662.2:c.1634+8077A>T
DISC1 transcript variant L NM_018662.3:c.1634+8077= NM_018662.3:c.1634+8077A>G NM_018662.3:c.1634+8077A>T
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#.

58 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss230943985 Jul 14, 2010 (132)
2 1000GENOMES ss238550050 Jul 15, 2010 (132)
3 BL ss253888147 May 09, 2011 (134)
4 GMI ss276258978 May 04, 2012 (137)
5 ILLUMINA ss536211062 Sep 08, 2015 (146)
6 TISHKOFF ss555205215 Apr 25, 2013 (138)
7 SSMP ss648778106 Apr 25, 2013 (138)
8 EVA-GONL ss976254418 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1068684581 Aug 21, 2014 (142)
10 1000GENOMES ss1295065317 Aug 21, 2014 (142)
11 DDI ss1426143121 Apr 01, 2015 (144)
12 EVA_GENOME_DK ss1574747816 Apr 01, 2015 (144)
13 EVA_DECODE ss1585654166 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1602360975 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1645355008 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1919475641 Feb 12, 2016 (147)
17 ILLUMINA ss1958366948 Feb 12, 2016 (147)
18 ILLUMINA ss1958366949 Feb 12, 2016 (147)
19 GENOMED ss1966998617 Jul 19, 2016 (147)
20 JJLAB ss2020263094 Sep 14, 2016 (149)
21 USC_VALOUEV ss2148299179 Dec 20, 2016 (150)
22 HUMAN_LONGEVITY ss2170942773 Dec 20, 2016 (150)
23 SYSTEMSBIOZJU ss2624643611 Nov 08, 2017 (151)
24 GRF ss2698299460 Nov 08, 2017 (151)
25 GNOMAD ss2767395227 Nov 08, 2017 (151)
26 AFFY ss2985541029 Nov 08, 2017 (151)
27 SWEGEN ss2988621346 Nov 08, 2017 (151)
28 ILLUMINA ss3021190993 Nov 08, 2017 (151)
29 ILLUMINA ss3021190994 Nov 08, 2017 (151)
30 BIOINF_KMB_FNS_UNIBA ss3023892397 Nov 08, 2017 (151)
31 CSHL ss3343960346 Nov 08, 2017 (151)
32 ILLUMINA ss3626332585 Oct 11, 2018 (152)
33 ILLUMINA ss3651536669 Oct 11, 2018 (152)
34 ILLUMINA ss3651536670 Oct 11, 2018 (152)
35 EGCUT_WGS ss3656580219 Jul 12, 2019 (153)
36 EVA_DECODE ss3688834054 Jul 12, 2019 (153)
37 ILLUMINA ss3725115232 Jul 12, 2019 (153)
38 ACPOP ss3727952691 Jul 12, 2019 (153)
39 EVA ss3747467147 Jul 12, 2019 (153)
40 PAGE_CC ss3770879458 Jul 12, 2019 (153)
41 KHV_HUMAN_GENOMES ss3800468967 Jul 12, 2019 (153)
42 EVA ss3826697829 Apr 25, 2020 (154)
43 SGDP_PRJ ss3851114044 Apr 25, 2020 (154)
44 KRGDB ss3896462221 Apr 25, 2020 (154)
45 KOGIC ss3946709173 Apr 25, 2020 (154)
46 TOPMED ss4487218202 Apr 27, 2021 (155)
47 TOMMO_GENOMICS ss5148909573 Apr 27, 2021 (155)
48 1000G_HIGH_COVERAGE ss5246158287 Oct 13, 2022 (156)
49 EVA ss5325452857 Oct 13, 2022 (156)
50 HUGCELL_USP ss5446558217 Oct 13, 2022 (156)
51 1000G_HIGH_COVERAGE ss5520437820 Oct 13, 2022 (156)
52 SANFORD_IMAGENETICS ss5627652515 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5676808803 Oct 13, 2022 (156)
54 YY_MCH ss5801731658 Oct 13, 2022 (156)
55 EVA ss5833408939 Oct 13, 2022 (156)
56 EVA ss5849331660 Oct 13, 2022 (156)
57 EVA ss5912391799 Oct 13, 2022 (156)
58 EVA ss5939500850 Oct 13, 2022 (156)
59 1000Genomes NC_000001.10 - 231914893 Oct 11, 2018 (152)
60 1000Genomes_30x NC_000001.11 - 231779147 Oct 13, 2022 (156)
61 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 231914893 Oct 11, 2018 (152)
62 Genetic variation in the Estonian population NC_000001.10 - 231914893 Oct 11, 2018 (152)
63 The Danish reference pan genome NC_000001.10 - 231914893 Apr 25, 2020 (154)
64 gnomAD - Genomes NC_000001.11 - 231779147 Apr 27, 2021 (155)
65 Genome of the Netherlands Release 5 NC_000001.10 - 231914893 Apr 25, 2020 (154)
66 KOREAN population from KRGDB NC_000001.10 - 231914893 Apr 25, 2020 (154)
67 Korean Genome Project NC_000001.11 - 231779147 Apr 25, 2020 (154)
68 Northern Sweden NC_000001.10 - 231914893 Jul 12, 2019 (153)
69 The PAGE Study NC_000001.11 - 231779147 Jul 12, 2019 (153)
70 Qatari NC_000001.10 - 231914893 Apr 25, 2020 (154)
71 SGDP_PRJ NC_000001.10 - 231914893 Apr 25, 2020 (154)
72 Siberian NC_000001.10 - 231914893 Apr 25, 2020 (154)
73 8.3KJPN NC_000001.10 - 231914893 Apr 27, 2021 (155)
74 14KJPN NC_000001.11 - 231779147 Oct 13, 2022 (156)
75 TopMed NC_000001.11 - 231779147 Apr 27, 2021 (155)
76 UK 10K study - Twins NC_000001.10 - 231914893 Oct 11, 2018 (152)
77 A Vietnamese Genetic Variation Database NC_000001.10 - 231914893 Jul 12, 2019 (153)
78 ALFA NC_000001.11 - 231779147 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss253888147, ss276258978, ss1585654166 NC_000001.9:229981515:A:G NC_000001.11:231779146:A:G (self)
5934921, 3281963, 2318467, 1928394, 1434545, 3639615, 1237556, 1517571, 3131024, 815533, 6878880, 3281963, 713796, ss230943985, ss238550050, ss536211062, ss555205215, ss648778106, ss976254418, ss1068684581, ss1295065317, ss1426143121, ss1574747816, ss1602360975, ss1645355008, ss1919475641, ss1958366948, ss1958366949, ss1966998617, ss2020263094, ss2148299179, ss2624643611, ss2698299460, ss2767395227, ss2985541029, ss2988621346, ss3021190993, ss3021190994, ss3343960346, ss3626332585, ss3651536669, ss3651536670, ss3656580219, ss3727952691, ss3747467147, ss3826697829, ss3851114044, ss3896462221, ss5148909573, ss5325452857, ss5627652515, ss5833408939, ss5939500850 NC_000001.10:231914892:A:G NC_000001.11:231779146:A:G (self)
7963755, 42576239, 3087174, 100927, 10645907, 50824537, 7378593830, ss2170942773, ss3023892397, ss3688834054, ss3725115232, ss3770879458, ss3800468967, ss3946709173, ss4487218202, ss5246158287, ss5446558217, ss5520437820, ss5676808803, ss5801731658, ss5849331660, ss5912391799 NC_000001.11:231779146:A:G NC_000001.11:231779146:A:G (self)
7378593830 NC_000001.11:231779146:A:T NC_000001.11:231779146:A:T (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 rs77345245

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.post761+d5e8e07