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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.

rs778228

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:10648085 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.287612 (76128/264690, TOPMED)
G=0.202200 (40660/201088, ALFA)
G=0.241804 (45951/190034, GnomAD_exome) (+ 23 more)
G=0.288204 (40276/139748, GnomAD)
G=0.33438 (26312/78688, PAGE_STUDY)
G=0.33647 (16094/47832, ExAC)
G=0.14668 (4145/28258, 14KJPN)
G=0.14618 (2450/16760, 8.3KJPN)
G=0.26723 (3450/12910, GO-ESP)
G=0.3314 (2122/6404, 1000G_30x)
G=0.3293 (1649/5008, 1000G)
G=0.1940 (869/4480, Estonian)
G=0.1692 (652/3854, ALSPAC)
G=0.1893 (702/3708, TWINSUK)
G=0.1908 (558/2924, KOREAN)
G=0.3504 (663/1892, HapMap)
G=0.1927 (353/1832, Korea1K)
G=0.166 (166/998, GoNL)
G=0.191 (148/776, PRJEB37584)
G=0.230 (138/600, NorthernSweden)
G=0.082 (44/534, MGP)
A=0.378 (84/222, SGDP_PRJ)
G=0.250 (54/216, Qatari)
G=0.20 (8/40, GENOME_DK)
A=0.50 (11/22, Siberian)
G=0.50 (11/22, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CASZ1 : Synonymous 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 222378 A=0.791328 G=0.208672
European Sub 185650 A=0.811813 G=0.188187
African Sub 13746 A=0.53928 G=0.46072
African Others Sub 490 A=0.471 G=0.529
African American Sub 13256 A=0.54179 G=0.45821
Asian Sub 720 A=0.806 G=0.194
East Asian Sub 558 A=0.812 G=0.188
Other Asian Sub 162 A=0.784 G=0.216
Latin American 1 Sub 1106 A=0.6998 G=0.3002
Latin American 2 Sub 6336 A=0.8000 G=0.2000
South Asian Sub 190 A=0.705 G=0.295
Other Sub 14630 A=0.77177 G=0.22823


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=0.712388 G=0.287612
Allele Frequency Aggregator Total Global 201088 A=0.797800 G=0.202200
Allele Frequency Aggregator European Sub 172548 A=0.811542 G=0.188458
Allele Frequency Aggregator Other Sub 12410 A=0.77421 G=0.22579
Allele Frequency Aggregator African Sub 7778 A=0.5442 G=0.4558
Allele Frequency Aggregator Latin American 2 Sub 6336 A=0.8000 G=0.2000
Allele Frequency Aggregator Latin American 1 Sub 1106 A=0.6998 G=0.3002
Allele Frequency Aggregator Asian Sub 720 A=0.806 G=0.194
Allele Frequency Aggregator South Asian Sub 190 A=0.705 G=0.295
gnomAD - Exomes Global Study-wide 190034 A=0.758196 G=0.241804
gnomAD - Exomes European Sub 98718 A=0.79372 G=0.20628
gnomAD - Exomes Asian Sub 39476 A=0.70977 G=0.29023
gnomAD - Exomes American Sub 27062 A=0.79894 G=0.20106
gnomAD - Exomes African Sub 11850 A=0.52363 G=0.47637
gnomAD - Exomes Ashkenazi Jewish Sub 8104 A=0.7562 G=0.2438
gnomAD - Exomes Other Sub 4824 A=0.7786 G=0.2214
gnomAD - Genomes Global Study-wide 139748 A=0.711796 G=0.288204
gnomAD - Genomes European Sub 75742 A=0.79707 G=0.20293
gnomAD - Genomes African Sub 41788 A=0.53056 G=0.46944
gnomAD - Genomes American Sub 13642 A=0.76990 G=0.23010
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.7494 G=0.2506
gnomAD - Genomes East Asian Sub 3116 A=0.7651 G=0.2349
gnomAD - Genomes Other Sub 2140 A=0.7262 G=0.2738
The PAGE Study Global Study-wide 78688 A=0.66562 G=0.33438
The PAGE Study AfricanAmerican Sub 32512 A=0.53433 G=0.46567
The PAGE Study Mexican Sub 10802 A=0.79883 G=0.20117
The PAGE Study Asian Sub 8318 A=0.8317 G=0.1683
The PAGE Study PuertoRican Sub 7918 A=0.6982 G=0.3018
The PAGE Study NativeHawaiian Sub 4534 A=0.7371 G=0.2629
The PAGE Study Cuban Sub 4228 A=0.7472 G=0.2528
The PAGE Study Dominican Sub 3828 A=0.6332 G=0.3668
The PAGE Study CentralAmerican Sub 2450 A=0.7682 G=0.2318
The PAGE Study SouthAmerican Sub 1982 A=0.7911 G=0.2089
The PAGE Study NativeAmerican Sub 1260 A=0.7651 G=0.2349
The PAGE Study SouthAsian Sub 856 A=0.689 G=0.311
ExAC Global Study-wide 47832 A=0.66353 G=0.33647
ExAC Europe Sub 26996 A=0.71596 G=0.28404
ExAC Asian Sub 11928 A=0.62064 G=0.37936
ExAC African Sub 5464 A=0.4830 G=0.5170
ExAC American Sub 3094 A=0.6884 G=0.3116
ExAC Other Sub 350 A=0.680 G=0.320
14KJPN JAPANESE Study-wide 28258 A=0.85332 G=0.14668
8.3KJPN JAPANESE Study-wide 16760 A=0.85382 G=0.14618
GO Exome Sequencing Project Global Study-wide 12910 A=0.73277 G=0.26723
GO Exome Sequencing Project European American Sub 8550 A=0.8185 G=0.1815
GO Exome Sequencing Project African American Sub 4360 A=0.5647 G=0.4353
1000Genomes_30x Global Study-wide 6404 A=0.6686 G=0.3314
1000Genomes_30x African Sub 1786 A=0.4614 G=0.5386
1000Genomes_30x Europe Sub 1266 A=0.7970 G=0.2030
1000Genomes_30x South Asian Sub 1202 A=0.6514 G=0.3486
1000Genomes_30x East Asian Sub 1170 A=0.7513 G=0.2487
1000Genomes_30x American Sub 980 A=0.803 G=0.197
1000Genomes Global Study-wide 5008 A=0.6707 G=0.3293
1000Genomes African Sub 1322 A=0.4569 G=0.5431
1000Genomes East Asian Sub 1008 A=0.7579 G=0.2421
1000Genomes Europe Sub 1006 A=0.7932 G=0.2068
1000Genomes South Asian Sub 978 A=0.648 G=0.352
1000Genomes American Sub 694 A=0.805 G=0.195
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8060 G=0.1940
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8308 G=0.1692
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8107 G=0.1893
KOREAN population from KRGDB KOREAN Study-wide 2924 A=0.8092 G=0.1908
HapMap Global Study-wide 1892 A=0.6496 G=0.3504
HapMap American Sub 770 A=0.732 G=0.268
HapMap African Sub 692 A=0.452 G=0.548
HapMap Asian Sub 254 A=0.835 G=0.165
HapMap Europe Sub 176 A=0.795 G=0.205
Korean Genome Project KOREAN Study-wide 1832 A=0.8073 G=0.1927
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.834 G=0.166
CNV burdens in cranial meningiomas Global Study-wide 776 A=0.809 G=0.191
CNV burdens in cranial meningiomas CRM Sub 776 A=0.809 G=0.191
Northern Sweden ACPOP Study-wide 600 A=0.770 G=0.230
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.918 G=0.082
SGDP_PRJ Global Study-wide 222 A=0.378 G=0.622
Qatari Global Study-wide 216 A=0.750 G=0.250
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Siberian Global Study-wide 22 A=0.50 G=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.10648085A>G
GRCh37.p13 chr 1 NC_000001.10:g.10708142A>G
Gene: CASZ1, castor zinc finger 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CASZ1 transcript variant 1 NM_001079843.3:c.3213T>C F [TTT] > F [TTC] Coding Sequence Variant
zinc finger protein castor homolog 1 isoform a NP_001073312.1:p.Phe1071= F (Phe) > F (Phe) Synonymous Variant
CASZ1 transcript variant 2 NM_017766.5:c.3213T>C F [TTT] > F [TTC] Coding Sequence Variant
zinc finger protein castor homolog 1 isoform b NP_060236.3:p.Phe1071= F (Phe) > F (Phe) Synonymous Variant
CASZ1 transcript variant X1 XM_017001539.3:c.3285T>C F [TTT] > F [TTC] Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X1 XP_016857028.1:p.Phe1095= F (Phe) > F (Phe) Synonymous Variant
CASZ1 transcript variant X2 XM_017001540.3:c.3213T>C F [TTT] > F [TTC] Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X2 XP_016857029.1:p.Phe1071= F (Phe) > F (Phe) Synonymous Variant
CASZ1 transcript variant X3 XM_047423404.1:c.3213T>C F [TTT] > F [TTC] Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X2 XP_047279360.1:p.Phe1071= F (Phe) > F (Phe) Synonymous Variant
CASZ1 transcript variant X4 XM_005263479.4:c.3285T>C F [TTT] > F [TTC] Coding Sequence Variant
zinc finger protein castor homolog 1 isoform X3 XP_005263536.1:p.Phe1095= F (Phe) > F (Phe) Synonymous 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.

Allele: G (allele ID: 1281837 )
ClinVar Accession Disease Names Clinical Significance
RCV001717974.4 not provided Benign
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
GRCh38.p14 chr 1 NC_000001.11:g.10648085= NC_000001.11:g.10648085A>G
GRCh37.p13 chr 1 NC_000001.10:g.10708142= NC_000001.10:g.10708142A>G
CASZ1 transcript variant 2 NM_017766.5:c.3213= NM_017766.5:c.3213T>C
CASZ1 transcript variant 2 NM_017766.4:c.3213= NM_017766.4:c.3213T>C
CASZ1 transcript variant X4 XM_005263479.4:c.3285= XM_005263479.4:c.3285T>C
CASZ1 transcript variant X4 XM_005263479.3:c.3285= XM_005263479.3:c.3285T>C
CASZ1 transcript variant X1 XM_005263479.2:c.3285= XM_005263479.2:c.3285T>C
CASZ1 transcript variant X1 XM_005263479.1:c.3285= XM_005263479.1:c.3285T>C
CASZ1 transcript variant X2 XM_017001540.3:c.3213= XM_017001540.3:c.3213T>C
CASZ1 transcript variant X2 XM_017001540.2:c.3213= XM_017001540.2:c.3213T>C
CASZ1 transcript variant X2 XM_017001540.1:c.3213= XM_017001540.1:c.3213T>C
CASZ1 transcript variant X1 XM_017001539.3:c.3285= XM_017001539.3:c.3285T>C
CASZ1 transcript variant X1 XM_017001539.2:c.3285= XM_017001539.2:c.3285T>C
CASZ1 transcript variant X1 XM_017001539.1:c.3285= XM_017001539.1:c.3285T>C
CASZ1 transcript variant 1 NM_001079843.3:c.3213= NM_001079843.3:c.3213T>C
CASZ1 transcript variant 1 NM_001079843.2:c.3213= NM_001079843.2:c.3213T>C
CASZ1 transcript variant X3 XM_047423404.1:c.3213= XM_047423404.1:c.3213T>C
zinc finger protein castor homolog 1 isoform b NP_060236.3:p.Phe1071= NP_060236.3:p.Phe1071=
zinc finger protein castor homolog 1 isoform X3 XP_005263536.1:p.Phe1095= XP_005263536.1:p.Phe1095=
zinc finger protein castor homolog 1 isoform X2 XP_016857029.1:p.Phe1071= XP_016857029.1:p.Phe1071=
zinc finger protein castor homolog 1 isoform X1 XP_016857028.1:p.Phe1095= XP_016857028.1:p.Phe1095=
zinc finger protein castor homolog 1 isoform a NP_001073312.1:p.Phe1071= NP_001073312.1:p.Phe1071=
zinc finger protein castor homolog 1 isoform X2 XP_047279360.1:p.Phe1071= XP_047279360.1:p.Phe1071=
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#.

137 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss909082 Oct 05, 2000 (86)
2 SC_JCM ss2663802 Nov 09, 2000 (92)
3 TSC-CSHL ss3348285 Sep 28, 2001 (100)
4 YUSUKE ss4977010 Aug 28, 2002 (108)
5 WI_SSAHASNP ss11375028 Jul 11, 2003 (116)
6 SC_SNP ss13024856 Dec 05, 2003 (119)
7 CSHL-HAPMAP ss16422604 Feb 27, 2004 (120)
8 ABI ss43836797 Mar 15, 2006 (126)
9 ILLUMINA ss65747632 Oct 13, 2006 (127)
10 KRIBB_YJKIM ss65836629 Dec 03, 2006 (127)
11 ILLUMINA ss74911752 Dec 06, 2007 (129)
12 HGSV ss84071135 Dec 14, 2007 (130)
13 CORNELL ss86240959 Mar 23, 2008 (129)
14 BCMHGSC_JDW ss87217063 Mar 23, 2008 (129)
15 BGI ss102719111 Dec 01, 2009 (131)
16 1000GENOMES ss107988260 Jan 22, 2009 (130)
17 KRIBB_YJKIM ss119367736 Dec 01, 2009 (131)
18 ENSEMBL ss137793891 Dec 01, 2009 (131)
19 SEATTLESEQ ss159696024 Dec 01, 2009 (131)
20 ILLUMINA ss160914443 Dec 01, 2009 (131)
21 ILLUMINA ss174545952 Jul 04, 2010 (132)
22 BUSHMAN ss198010367 Jul 04, 2010 (132)
23 1000GENOMES ss210465723 Jul 14, 2010 (132)
24 1000GENOMES ss218233564 Jul 14, 2010 (132)
25 1000GENOMES ss230424678 Jul 14, 2010 (132)
26 1000GENOMES ss238139964 Jul 15, 2010 (132)
27 PJP ss290622373 May 09, 2011 (134)
28 ILLUMINA ss481673934 May 04, 2012 (137)
29 ILLUMINA ss481704724 May 04, 2012 (137)
30 ILLUMINA ss482672182 Sep 08, 2015 (146)
31 ILLUMINA ss485631620 May 04, 2012 (137)
32 1000GENOMES ss489720002 May 04, 2012 (137)
33 ILLUMINA ss537513611 Sep 08, 2015 (146)
34 TISHKOFF ss553790683 Apr 25, 2013 (138)
35 SSMP ss647571368 Apr 25, 2013 (138)
36 NHLBI-ESP ss712271567 Apr 25, 2013 (138)
37 ILLUMINA ss778985970 Sep 08, 2015 (146)
38 ILLUMINA ss783261402 Sep 08, 2015 (146)
39 ILLUMINA ss784214831 Sep 08, 2015 (146)
40 ILLUMINA ss832522328 Sep 08, 2015 (146)
41 ILLUMINA ss834448172 Sep 08, 2015 (146)
42 JMKIDD_LAB ss974433100 Aug 21, 2014 (142)
43 EVA-GONL ss974851559 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067415922 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1067666111 Aug 21, 2014 (142)
46 1000GENOMES ss1289665275 Aug 21, 2014 (142)
47 EVA_GENOME_DK ss1573884925 Apr 01, 2015 (144)
48 EVA_DECODE ss1584209608 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1599539115 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1642533148 Apr 01, 2015 (144)
51 EVA_EXAC ss1685294019 Apr 01, 2015 (144)
52 EVA_MGP ss1710887669 Apr 01, 2015 (144)
53 EVA_SVP ss1712310856 Apr 01, 2015 (144)
54 ILLUMINA ss1751861134 Sep 08, 2015 (146)
55 HAMMER_LAB ss1793895075 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1918050332 Feb 12, 2016 (147)
57 ILLUMINA ss1945984420 Feb 12, 2016 (147)
58 ILLUMINA ss1958240465 Feb 12, 2016 (147)
59 JJLAB ss2019539431 Sep 14, 2016 (149)
60 USC_VALOUEV ss2147536394 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2160012576 Dec 20, 2016 (150)
62 ILLUMINA ss2632476567 Nov 08, 2017 (151)
63 GRF ss2697432585 Nov 08, 2017 (151)
64 ILLUMINA ss2710661270 Nov 08, 2017 (151)
65 GNOMAD ss2731105713 Nov 08, 2017 (151)
66 GNOMAD ss2746210867 Nov 08, 2017 (151)
67 GNOMAD ss2751574568 Nov 08, 2017 (151)
68 SWEGEN ss2986289408 Nov 08, 2017 (151)
69 ILLUMINA ss3021053475 Nov 08, 2017 (151)
70 EVA_SAMSUNG_MC ss3023056160 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3023534106 Nov 08, 2017 (151)
72 CSHL ss3343315440 Nov 08, 2017 (151)
73 ILLUMINA ss3625525003 Oct 11, 2018 (152)
74 ILLUMINA ss3626024926 Oct 11, 2018 (152)
75 ILLUMINA ss3630515274 Oct 11, 2018 (152)
76 ILLUMINA ss3632880616 Oct 11, 2018 (152)
77 ILLUMINA ss3633574422 Oct 11, 2018 (152)
78 ILLUMINA ss3634306500 Oct 11, 2018 (152)
79 ILLUMINA ss3635268550 Oct 11, 2018 (152)
80 ILLUMINA ss3635982692 Oct 11, 2018 (152)
81 ILLUMINA ss3637018915 Oct 11, 2018 (152)
82 ILLUMINA ss3637737054 Oct 11, 2018 (152)
83 ILLUMINA ss3640013864 Oct 11, 2018 (152)
84 ILLUMINA ss3640974728 Oct 11, 2018 (152)
85 ILLUMINA ss3641268577 Oct 11, 2018 (152)
86 ILLUMINA ss3642750945 Oct 11, 2018 (152)
87 ILLUMINA ss3644480271 Oct 11, 2018 (152)
88 OMUKHERJEE_ADBS ss3646221061 Oct 11, 2018 (152)
89 ILLUMINA ss3651377386 Oct 11, 2018 (152)
90 EGCUT_WGS ss3654389611 Jul 12, 2019 (153)
91 EVA_DECODE ss3686155150 Jul 12, 2019 (153)
92 ILLUMINA ss3724995730 Jul 12, 2019 (153)
93 ACPOP ss3726786636 Jul 12, 2019 (153)
94 ILLUMINA ss3744041859 Jul 12, 2019 (153)
95 ILLUMINA ss3744607482 Jul 12, 2019 (153)
96 EVA ss3745823604 Jul 12, 2019 (153)
97 PAGE_CC ss3770784939 Jul 12, 2019 (153)
98 ILLUMINA ss3772109100 Jul 12, 2019 (153)
99 KHV_HUMAN_GENOMES ss3798844053 Jul 12, 2019 (153)
100 EVA ss3823558060 Apr 25, 2020 (154)
101 EVA ss3825517520 Apr 25, 2020 (154)
102 EVA ss3825534759 Apr 25, 2020 (154)
103 EVA ss3825552993 Apr 25, 2020 (154)
104 EVA ss3826021297 Apr 25, 2020 (154)
105 EVA ss3836397774 Apr 25, 2020 (154)
106 EVA ss3841802305 Apr 25, 2020 (154)
107 SGDP_PRJ ss3848184428 Apr 25, 2020 (154)
108 KRGDB ss3893065633 Apr 25, 2020 (154)
109 KOGIC ss3943813168 Apr 25, 2020 (154)
110 FSA-LAB ss3983915295 Apr 25, 2021 (155)
111 FSA-LAB ss3983915296 Apr 25, 2021 (155)
112 EVA ss3984452035 Apr 25, 2021 (155)
113 EVA ss3986008418 Apr 25, 2021 (155)
114 EVA ss3986098216 Apr 25, 2021 (155)
115 EVA ss4016893072 Apr 25, 2021 (155)
116 TOPMED ss4439082834 Apr 25, 2021 (155)
117 TOMMO_GENOMICS ss5142454954 Apr 25, 2021 (155)
118 EVA ss5236864008 Apr 25, 2021 (155)
119 1000G_HIGH_COVERAGE ss5241160620 Oct 13, 2022 (156)
120 EVA ss5314592547 Oct 13, 2022 (156)
121 EVA ss5316723016 Oct 13, 2022 (156)
122 HUGCELL_USP ss5442365912 Oct 13, 2022 (156)
123 EVA ss5505765634 Oct 13, 2022 (156)
124 1000G_HIGH_COVERAGE ss5512912421 Oct 13, 2022 (156)
125 EVA ss5623987187 Oct 13, 2022 (156)
126 SANFORD_IMAGENETICS ss5624196195 Oct 13, 2022 (156)
127 SANFORD_IMAGENETICS ss5624916575 Oct 13, 2022 (156)
128 TOMMO_GENOMICS ss5666750755 Oct 13, 2022 (156)
129 EVA ss5799474910 Oct 13, 2022 (156)
130 YY_MCH ss5800318689 Oct 13, 2022 (156)
131 EVA ss5831534143 Oct 13, 2022 (156)
132 EVA ss5847525082 Oct 13, 2022 (156)
133 EVA ss5848247466 Oct 13, 2022 (156)
134 EVA ss5848781616 Oct 13, 2022 (156)
135 EVA ss5907026728 Oct 13, 2022 (156)
136 EVA ss5936507949 Oct 13, 2022 (156)
137 EVA ss5936743410 Oct 13, 2022 (156)
138 1000Genomes NC_000001.10 - 10708142 Oct 11, 2018 (152)
139 1000Genomes_30x NC_000001.11 - 10648085 Oct 13, 2022 (156)
140 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 10708142 Oct 11, 2018 (152)
141 Genetic variation in the Estonian population NC_000001.10 - 10708142 Oct 11, 2018 (152)
142 ExAC NC_000001.10 - 10708142 Oct 11, 2018 (152)
143 The Danish reference pan genome NC_000001.10 - 10708142 Apr 25, 2020 (154)
144 gnomAD - Genomes NC_000001.11 - 10648085 Apr 25, 2021 (155)
145 gnomAD - Exomes NC_000001.10 - 10708142 Jul 12, 2019 (153)
146 GO Exome Sequencing Project NC_000001.10 - 10708142 Oct 11, 2018 (152)
147 Genome of the Netherlands Release 5 NC_000001.10 - 10708142 Apr 25, 2020 (154)
148 HapMap NC_000001.11 - 10648085 Apr 25, 2020 (154)
149 KOREAN population from KRGDB NC_000001.10 - 10708142 Apr 25, 2020 (154)
150 Korean Genome Project NC_000001.11 - 10648085 Apr 25, 2020 (154)
151 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 10708142 Apr 25, 2020 (154)
152 Northern Sweden NC_000001.10 - 10708142 Jul 12, 2019 (153)
153 The PAGE Study NC_000001.11 - 10648085 Jul 12, 2019 (153)
154 CNV burdens in cranial meningiomas NC_000001.10 - 10708142 Apr 25, 2021 (155)
155 Qatari NC_000001.10 - 10708142 Apr 25, 2020 (154)
156 SGDP_PRJ NC_000001.10 - 10708142 Apr 25, 2020 (154)
157 Siberian NC_000001.10 - 10708142 Apr 25, 2020 (154)
158 8.3KJPN NC_000001.10 - 10708142 Apr 25, 2021 (155)
159 14KJPN NC_000001.11 - 10648085 Oct 13, 2022 (156)
160 TopMed NC_000001.11 - 10648085 Apr 25, 2021 (155)
161 UK 10K study - Twins NC_000001.10 - 10708142 Oct 11, 2018 (152)
162 ALFA NC_000001.11 - 10648085 Apr 25, 2021 (155)
163 ClinVar RCV001717974.4 Oct 13, 2022 (156)
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)
rs1796631 Jan 18, 2001 (92)
rs3790640 Oct 08, 2002 (108)
rs57065036 May 23, 2008 (130)
rs117324590 Aug 16, 2010 (132)
rs386613133 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84071135 NC_000001.8:10642407:A:G NC_000001.11:10648084:A:G (self)
ss87217063, ss107988260, ss198010367, ss210465723, ss290622373, ss481673934, ss1584209608, ss1712310856, ss2710661270, ss3642750945 NC_000001.9:10630728:A:G NC_000001.11:10648084:A:G (self)
340765, 176695, 127859, 4472730, 1387832, 121597, 16789, 75846, 243027, 4421, 71501, 1335, 92262, 201408, 52748, 424261, 176695, ss218233564, ss230424678, ss238139964, ss481704724, ss482672182, ss485631620, ss489720002, ss537513611, ss553790683, ss647571368, ss712271567, ss778985970, ss783261402, ss784214831, ss832522328, ss834448172, ss974433100, ss974851559, ss1067415922, ss1067666111, ss1289665275, ss1573884925, ss1599539115, ss1642533148, ss1685294019, ss1710887669, ss1751861134, ss1793895075, ss1918050332, ss1945984420, ss1958240465, ss2019539431, ss2147536394, ss2632476567, ss2697432585, ss2731105713, ss2746210867, ss2751574568, ss2986289408, ss3021053475, ss3023056160, ss3343315440, ss3625525003, ss3626024926, ss3630515274, ss3632880616, ss3633574422, ss3634306500, ss3635268550, ss3635982692, ss3637018915, ss3637737054, ss3640013864, ss3640974728, ss3641268577, ss3644480271, ss3646221061, ss3651377386, ss3654389611, ss3726786636, ss3744041859, ss3744607482, ss3745823604, ss3772109100, ss3823558060, ss3825517520, ss3825534759, ss3825552993, ss3826021297, ss3836397774, ss3848184428, ss3893065633, ss3983915295, ss3983915296, ss3984452035, ss3986008418, ss3986098216, ss4016893072, ss5142454954, ss5314592547, ss5316723016, ss5505765634, ss5623987187, ss5624196195, ss5624916575, ss5799474910, ss5831534143, ss5847525082, ss5848247466, ss5936507949, ss5936743410 NC_000001.10:10708141:A:G NC_000001.11:10648084:A:G (self)
RCV001717974.4, 438356, 2378378, 12727, 191169, 6408, 587859, 2689169, 8995994222, ss2160012576, ss3023534106, ss3686155150, ss3724995730, ss3770784939, ss3798844053, ss3841802305, ss3943813168, ss4439082834, ss5236864008, ss5241160620, ss5442365912, ss5512912421, ss5666750755, ss5800318689, ss5848781616, ss5907026728 NC_000001.11:10648084:A:G NC_000001.11:10648084:A:G (self)
ss11375028, ss13024856 NT_021937.15:1220075:A:G NC_000001.11:10648084:A:G (self)
ss16422604 NT_021937.16:4835200:A:G NC_000001.11:10648084:A:G (self)
ss909082, ss2663802, ss3348285, ss4977010, ss43836797, ss65747632, ss65836629, ss74911752, ss86240959, ss102719111, ss119367736, ss137793891, ss159696024, ss160914443, ss174545952 NT_021937.19:6712873:A:G NC_000001.11:10648084: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 rs778228
PMID Title Author Year Journal
27589061 Whole Exome Sequencing in Atrial Fibrillation. Lubitz SA et al. 2016 PLoS genetics
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