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.

rs7733088

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:148476770 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.403680 (106850/264690, TOPMED)
A=0.397836 (104673/263106, ALFA)
A=0.389561 (54498/139896, GnomAD) (+ 22 more)
A=0.427775 (51540/120484, ExAC)
A=0.42915 (33772/78696, PAGE_STUDY)
G=0.49508 (13989/28256, 14KJPN)
G=0.49039 (8219/16760, 8.3KJPN)
A=0.36725 (4346/11834, GO-ESP)
A=0.4275 (2738/6404, 1000G_30x)
A=0.4339 (2173/5008, 1000G)
A=0.3725 (1669/4480, Estonian)
A=0.4048 (1560/3854, ALSPAC)
A=0.4099 (1520/3708, TWINSUK)
G=0.4229 (1239/2930, KOREAN)
A=0.4376 (828/1892, HapMap)
A=0.399 (398/998, GoNL)
G=0.413 (326/790, PRJEB37584)
A=0.385 (231/600, NorthernSweden)
A=0.331 (177/534, MGP)
G=0.309 (116/376, SGDP_PRJ)
A=0.421 (128/304, FINRISK)
A=0.329 (71/216, Qatari)
A=0.23 (10/44, Ancient Sardinia)
A=0.40 (16/40, GENOME_DK)
G=0.35 (14/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HTR4 : Intron Variant
LOC107986462 : Intron 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 272000 G=0.602563 A=0.397437
European Sub 236290 G=0.609391 A=0.390609
African Sub 11918 G=0.67436 A=0.32564
African Others Sub 442 G=0.706 A=0.294
African American Sub 11476 G=0.67314 A=0.32686
Asian Sub 3922 G=0.4217 A=0.5783
East Asian Sub 3160 G=0.4168 A=0.5832
Other Asian Sub 762 G=0.442 A=0.558
Latin American 1 Sub 1042 G=0.6027 A=0.3973
Latin American 2 Sub 6648 G=0.3741 A=0.6259
South Asian Sub 366 G=0.598 A=0.402
Other Sub 11814 G=0.58228 A=0.41772


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=0.596320 A=0.403680
Allele Frequency Aggregator Total Global 263106 G=0.602164 A=0.397836
Allele Frequency Aggregator European Sub 229566 G=0.609437 A=0.390563
Allele Frequency Aggregator Other Sub 10788 G=0.58306 A=0.41694
Allele Frequency Aggregator African Sub 10774 G=0.67282 A=0.32718
Allele Frequency Aggregator Latin American 2 Sub 6648 G=0.3741 A=0.6259
Allele Frequency Aggregator Asian Sub 3922 G=0.4217 A=0.5783
Allele Frequency Aggregator Latin American 1 Sub 1042 G=0.6027 A=0.3973
Allele Frequency Aggregator South Asian Sub 366 G=0.598 A=0.402
gnomAD - Genomes Global Study-wide 139896 G=0.610439 A=0.389561
gnomAD - Genomes European Sub 75784 G=0.60445 A=0.39555
gnomAD - Genomes African Sub 41896 G=0.67897 A=0.32103
gnomAD - Genomes American Sub 13630 G=0.47902 A=0.52098
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=0.6336 A=0.3664
gnomAD - Genomes East Asian Sub 3120 G=0.3811 A=0.6189
gnomAD - Genomes Other Sub 2150 G=0.6163 A=0.3837
ExAC Global Study-wide 120484 G=0.572225 A=0.427775
ExAC Europe Sub 73194 G=0.61386 A=0.38614
ExAC Asian Sub 25066 G=0.52310 A=0.47690
ExAC American Sub 11542 G=0.32074 A=0.67926
ExAC African Sub 9784 G=0.6802 A=0.3198
ExAC Other Sub 898 G=0.606 A=0.394
The PAGE Study Global Study-wide 78696 G=0.57085 A=0.42915
The PAGE Study AfricanAmerican Sub 32514 G=0.67571 A=0.32429
The PAGE Study Mexican Sub 10810 G=0.37780 A=0.62220
The PAGE Study Asian Sub 8318 G=0.4716 A=0.5284
The PAGE Study PuertoRican Sub 7918 G=0.5883 A=0.4117
The PAGE Study NativeHawaiian Sub 4534 G=0.4579 A=0.5421
The PAGE Study Cuban Sub 4230 G=0.6220 A=0.3780
The PAGE Study Dominican Sub 3828 G=0.6460 A=0.3540
The PAGE Study CentralAmerican Sub 2448 G=0.4306 A=0.5694
The PAGE Study SouthAmerican Sub 1980 G=0.4510 A=0.5490
The PAGE Study NativeAmerican Sub 1260 G=0.5254 A=0.4746
The PAGE Study SouthAsian Sub 856 G=0.584 A=0.416
14KJPN JAPANESE Study-wide 28256 G=0.49508 A=0.50492
8.3KJPN JAPANESE Study-wide 16760 G=0.49039 A=0.50961
GO Exome Sequencing Project Global Study-wide 11834 G=0.63275 A=0.36725
GO Exome Sequencing Project European American Sub 8176 G=0.6107 A=0.3893
GO Exome Sequencing Project African American Sub 3658 G=0.6821 A=0.3179
1000Genomes_30x Global Study-wide 6404 G=0.5725 A=0.4275
1000Genomes_30x African Sub 1786 G=0.7184 A=0.2816
1000Genomes_30x Europe Sub 1266 G=0.6398 A=0.3602
1000Genomes_30x South Asian Sub 1202 G=0.5874 A=0.4126
1000Genomes_30x East Asian Sub 1170 G=0.3667 A=0.6333
1000Genomes_30x American Sub 980 G=0.447 A=0.553
1000Genomes Global Study-wide 5008 G=0.5661 A=0.4339
1000Genomes African Sub 1322 G=0.7110 A=0.2890
1000Genomes East Asian Sub 1008 G=0.3641 A=0.6359
1000Genomes Europe Sub 1006 G=0.6332 A=0.3668
1000Genomes South Asian Sub 978 G=0.594 A=0.406
1000Genomes American Sub 694 G=0.447 A=0.553
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6275 A=0.3725
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5952 A=0.4048
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5901 A=0.4099
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4229 A=0.5771
HapMap Global Study-wide 1892 G=0.5624 A=0.4376
HapMap American Sub 770 G=0.558 A=0.442
HapMap African Sub 692 G=0.636 A=0.364
HapMap Asian Sub 254 G=0.358 A=0.642
HapMap Europe Sub 176 G=0.585 A=0.415
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.601 A=0.399
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.413 A=0.587
CNV burdens in cranial meningiomas CRM Sub 790 G=0.413 A=0.587
Northern Sweden ACPOP Study-wide 600 G=0.615 A=0.385
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.669 A=0.331
SGDP_PRJ Global Study-wide 376 G=0.309 A=0.691
FINRISK Finnish from FINRISK project Study-wide 304 G=0.579 A=0.421
Qatari Global Study-wide 216 G=0.671 A=0.329
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 44 G=0.77 A=0.23
The Danish reference pan genome Danish Study-wide 40 G=0.60 A=0.40
Siberian Global Study-wide 40 G=0.35 A=0.65
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 5 NC_000005.10:g.148476770G>A
GRCh38.p14 chr 5 NC_000005.10:g.148476770G>C
GRCh37.p13 chr 5 NC_000005.9:g.147856333G>A
GRCh37.p13 chr 5 NC_000005.9:g.147856333G>C
HTR4 RefSeqGene NG_029052.1:g.182407C>T
HTR4 RefSeqGene NG_029052.1:g.182407C>G
Gene: HTR4, 5-hydroxytryptamine receptor 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HTR4 transcript variant a NM_001040169.2:c.1077-254…

NM_001040169.2:c.1077-25498C>T

N/A Intron Variant
HTR4 transcript variant d NM_001040172.2:c.1077-25C…

NM_001040172.2:c.1077-25C>T

N/A Intron Variant
HTR4 transcript variant g NM_199453.3:c.1077-10845C…

NM_199453.3:c.1077-10845C>T

N/A Intron Variant
HTR4 transcript variant b NM_000870.7:c. N/A Genic Downstream Transcript Variant
HTR4 transcript variant i NM_001040173.2:c. N/A Genic Downstream Transcript Variant
HTR4 transcript variant c NM_001286410.1:c. N/A Genic Downstream Transcript Variant
HTR4 transcript variant j NR_104445.2:n. N/A Genic Downstream Transcript Variant
Gene: LOC107986462, uncharacterized LOC107986462 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107986462 transcript XR_001742935.2:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C
GRCh38.p14 chr 5 NC_000005.10:g.148476770= NC_000005.10:g.148476770G>A NC_000005.10:g.148476770G>C
GRCh37.p13 chr 5 NC_000005.9:g.147856333= NC_000005.9:g.147856333G>A NC_000005.9:g.147856333G>C
HTR4 RefSeqGene NG_029052.1:g.182407= NG_029052.1:g.182407C>T NG_029052.1:g.182407C>G
HTR4 transcript variant a NM_001040169.2:c.1077-25498= NM_001040169.2:c.1077-25498C>T NM_001040169.2:c.1077-25498C>G
HTR4 transcript variant d NM_001040172.2:c.1077-25= NM_001040172.2:c.1077-25C>T NM_001040172.2:c.1077-25C>G
HTR4 transcript variant g NM_199453.3:c.1077-10845= NM_199453.3:c.1077-10845C>T NM_199453.3:c.1077-10845C>G
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#.

139 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11759736 Jul 11, 2003 (116)
2 PERLEGEN ss24682970 Sep 20, 2004 (123)
3 ABI ss44628270 Mar 15, 2006 (126)
4 ILLUMINA ss75040816 Dec 06, 2007 (129)
5 HGSV ss79028948 Dec 06, 2007 (129)
6 HGSV ss84021509 Dec 16, 2007 (130)
7 BCMHGSC_JDW ss93285406 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss98774905 Feb 06, 2009 (130)
9 BGI ss104249186 Dec 01, 2009 (131)
10 1000GENOMES ss113425919 Jan 25, 2009 (130)
11 ILLUMINA-UK ss116852658 Feb 14, 2009 (130)
12 KRIBB_YJKIM ss119566451 Dec 01, 2009 (131)
13 ENSEMBL ss143429923 Dec 01, 2009 (131)
14 ENSEMBL ss143518048 Dec 01, 2009 (131)
15 GMI ss156150757 Dec 01, 2009 (131)
16 ILLUMINA ss160908654 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss162754474 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss165961171 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss167206637 Jul 04, 2010 (132)
20 ILLUMINA ss174520271 Jul 04, 2010 (132)
21 BUSHMAN ss201003683 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss206814628 Jul 04, 2010 (132)
23 1000GENOMES ss222027187 Jul 14, 2010 (132)
24 1000GENOMES ss233191436 Jul 14, 2010 (132)
25 1000GENOMES ss240305062 Jul 15, 2010 (132)
26 BL ss253875808 May 09, 2011 (134)
27 GMI ss278524061 May 04, 2012 (137)
28 PJP ss293489896 May 09, 2011 (134)
29 ILLUMINA ss481657600 May 04, 2012 (137)
30 ILLUMINA ss481688322 May 04, 2012 (137)
31 ILLUMINA ss482654874 Sep 08, 2015 (146)
32 ILLUMINA ss485623518 May 04, 2012 (137)
33 CLINSEQ_SNP ss491875569 May 04, 2012 (137)
34 ILLUMINA ss537507247 Sep 08, 2015 (146)
35 TISHKOFF ss558783979 Apr 25, 2013 (138)
36 SSMP ss652687508 Apr 25, 2013 (138)
37 NHLBI-ESP ss712668761 Apr 25, 2013 (138)
38 ILLUMINA ss778613179 Sep 08, 2015 (146)
39 ILLUMINA ss783257360 Sep 08, 2015 (146)
40 ILLUMINA ss784210860 Sep 08, 2015 (146)
41 ILLUMINA ss832518233 Sep 08, 2015 (146)
42 ILLUMINA ss834070597 Sep 08, 2015 (146)
43 JMKIDD_LAB ss974457586 Aug 21, 2014 (142)
44 EVA-GONL ss982241982 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1067472495 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1073128536 Aug 21, 2014 (142)
47 1000GENOMES ss1317683531 Aug 21, 2014 (142)
48 DDI ss1430534823 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1581395256 Apr 01, 2015 (144)
50 EVA_FINRISK ss1584041828 Apr 01, 2015 (144)
51 EVA_DECODE ss1591774212 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1614262677 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1657256710 Apr 01, 2015 (144)
54 EVA_EXAC ss1688028704 Apr 01, 2015 (144)
55 EVA_MGP ss1711101769 Apr 01, 2015 (144)
56 EVA_SVP ss1712808908 Apr 01, 2015 (144)
57 ILLUMINA ss1752555118 Sep 08, 2015 (146)
58 HAMMER_LAB ss1804130949 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1925496012 Feb 12, 2016 (147)
60 ILLUMINA ss1946158810 Feb 12, 2016 (147)
61 ILLUMINA ss1958832614 Feb 12, 2016 (147)
62 GENOMED ss1970233853 Jul 19, 2016 (147)
63 JJLAB ss2023355096 Sep 14, 2016 (149)
64 USC_VALOUEV ss2151513761 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2279135927 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2626165912 Nov 08, 2017 (151)
67 ILLUMINA ss2634354227 Nov 08, 2017 (151)
68 GRF ss2707082842 Nov 08, 2017 (151)
69 ILLUMINA ss2711051532 Nov 08, 2017 (151)
70 GNOMAD ss2735339314 Nov 08, 2017 (151)
71 GNOMAD ss2747484520 Nov 08, 2017 (151)
72 GNOMAD ss2832119576 Nov 08, 2017 (151)
73 AFFY ss2985970204 Nov 08, 2017 (151)
74 SWEGEN ss2997978657 Nov 08, 2017 (151)
75 ILLUMINA ss3022540773 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3025459456 Nov 08, 2017 (151)
77 CSHL ss3346677390 Nov 08, 2017 (151)
78 ILLUMINA ss3625886105 Oct 12, 2018 (152)
79 ILLUMINA ss3629367122 Oct 12, 2018 (152)
80 ILLUMINA ss3632277361 Oct 12, 2018 (152)
81 ILLUMINA ss3633393685 Oct 12, 2018 (152)
82 ILLUMINA ss3634115043 Oct 12, 2018 (152)
83 ILLUMINA ss3635027831 Oct 12, 2018 (152)
84 ILLUMINA ss3635796691 Oct 12, 2018 (152)
85 ILLUMINA ss3636741006 Oct 12, 2018 (152)
86 ILLUMINA ss3637549347 Oct 12, 2018 (152)
87 ILLUMINA ss3638587447 Oct 12, 2018 (152)
88 ILLUMINA ss3640735125 Oct 12, 2018 (152)
89 ILLUMINA ss3643530956 Oct 12, 2018 (152)
90 ILLUMINA ss3644891808 Oct 12, 2018 (152)
91 OMUKHERJEE_ADBS ss3646326204 Oct 12, 2018 (152)
92 URBANLAB ss3648194185 Oct 12, 2018 (152)
93 ILLUMINA ss3653043726 Oct 12, 2018 (152)
94 EGCUT_WGS ss3665898624 Jul 13, 2019 (153)
95 EVA_DECODE ss3715925995 Jul 13, 2019 (153)
96 ILLUMINA ss3726280487 Jul 13, 2019 (153)
97 ACPOP ss3732914173 Jul 13, 2019 (153)
98 ILLUMINA ss3744261466 Jul 13, 2019 (153)
99 ILLUMINA ss3745328005 Jul 13, 2019 (153)
100 EVA ss3764204323 Jul 13, 2019 (153)
101 PAGE_CC ss3771238881 Jul 13, 2019 (153)
102 ILLUMINA ss3772821962 Jul 13, 2019 (153)
103 KHV_HUMAN_GENOMES ss3807373409 Jul 13, 2019 (153)
104 EVA ss3824127488 Apr 26, 2020 (154)
105 EVA ss3825682899 Apr 26, 2020 (154)
106 EVA ss3829560380 Apr 26, 2020 (154)
107 SGDP_PRJ ss3863214630 Apr 26, 2020 (154)
108 KRGDB ss3909889541 Apr 26, 2020 (154)
109 FSA-LAB ss3984319541 Apr 26, 2021 (155)
110 FSA-LAB ss3984319542 Apr 26, 2021 (155)
111 EVA ss3984556037 Apr 26, 2021 (155)
112 EVA ss3985177157 Apr 26, 2021 (155)
113 EVA ss3986323964 Apr 26, 2021 (155)
114 TOPMED ss4682818616 Apr 26, 2021 (155)
115 TOMMO_GENOMICS ss5174672032 Apr 26, 2021 (155)
116 EVA ss5237187685 Apr 26, 2021 (155)
117 1000G_HIGH_COVERAGE ss5266252003 Oct 13, 2022 (156)
118 EVA ss5315094073 Oct 13, 2022 (156)
119 HUGCELL_USP ss5464175037 Oct 13, 2022 (156)
120 EVA ss5508252637 Oct 13, 2022 (156)
121 1000G_HIGH_COVERAGE ss5551111662 Oct 13, 2022 (156)
122 EVA ss5623933643 Oct 13, 2022 (156)
123 EVA ss5624151352 Oct 13, 2022 (156)
124 SANFORD_IMAGENETICS ss5624604577 Oct 13, 2022 (156)
125 SANFORD_IMAGENETICS ss5639111948 Oct 13, 2022 (156)
126 TOMMO_GENOMICS ss5711904961 Oct 13, 2022 (156)
127 EVA ss5799665296 Oct 13, 2022 (156)
128 EVA ss5800124834 Oct 13, 2022 (156)
129 YY_MCH ss5806863823 Oct 13, 2022 (156)
130 EVA ss5835799030 Oct 13, 2022 (156)
131 EVA ss5847276510 Oct 13, 2022 (156)
132 EVA ss5848637743 Oct 13, 2022 (156)
133 EVA ss5855063049 Oct 13, 2022 (156)
134 EVA ss5896796190 Oct 13, 2022 (156)
135 EVA ss5936528403 Oct 13, 2022 (156)
136 EVA ss5967590721 Oct 13, 2022 (156)
137 EVA ss5979758132 Oct 13, 2022 (156)
138 EVA ss5980322428 Oct 13, 2022 (156)
139 EVA ss5981231084 Oct 13, 2022 (156)
140 1000Genomes NC_000005.9 - 147856333 Oct 12, 2018 (152)
141 1000Genomes_30x NC_000005.10 - 148476770 Oct 13, 2022 (156)
142 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 147856333 Oct 12, 2018 (152)
143 Genetic variation in the Estonian population NC_000005.9 - 147856333 Oct 12, 2018 (152)
144 ExAC NC_000005.9 - 147856333 Oct 12, 2018 (152)
145 FINRISK NC_000005.9 - 147856333 Apr 26, 2020 (154)
146 The Danish reference pan genome NC_000005.9 - 147856333 Apr 26, 2020 (154)
147 gnomAD - Genomes NC_000005.10 - 148476770 Apr 26, 2021 (155)
148 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4470424 (NC_000005.9:147856332:G:G 137038/245090, NC_000005.9:147856332:G:A 108052/245090)
Row 4470425 (NC_000005.9:147856332:G:G 245089/245090, NC_000005.9:147856332:G:C 1/245090)

- Jul 13, 2019 (153)
149 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4470424 (NC_000005.9:147856332:G:G 137038/245090, NC_000005.9:147856332:G:A 108052/245090)
Row 4470425 (NC_000005.9:147856332:G:G 245089/245090, NC_000005.9:147856332:G:C 1/245090)

- Jul 13, 2019 (153)
150 GO Exome Sequencing Project NC_000005.9 - 147856333 Oct 12, 2018 (152)
151 Genome of the Netherlands Release 5 NC_000005.9 - 147856333 Apr 26, 2020 (154)
152 HapMap NC_000005.10 - 148476770 Apr 26, 2020 (154)
153 KOREAN population from KRGDB NC_000005.9 - 147856333 Apr 26, 2020 (154)
154 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 147856333 Apr 26, 2020 (154)
155 Northern Sweden NC_000005.9 - 147856333 Jul 13, 2019 (153)
156 The PAGE Study NC_000005.10 - 148476770 Jul 13, 2019 (153)
157 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 147856333 Apr 26, 2021 (155)
158 CNV burdens in cranial meningiomas NC_000005.9 - 147856333 Apr 26, 2021 (155)
159 Qatari NC_000005.9 - 147856333 Apr 26, 2020 (154)
160 SGDP_PRJ NC_000005.9 - 147856333 Apr 26, 2020 (154)
161 Siberian NC_000005.9 - 147856333 Apr 26, 2020 (154)
162 8.3KJPN NC_000005.9 - 147856333 Apr 26, 2021 (155)
163 14KJPN NC_000005.10 - 148476770 Oct 13, 2022 (156)
164 TopMed NC_000005.10 - 148476770 Apr 26, 2021 (155)
165 UK 10K study - Twins NC_000005.9 - 147856333 Oct 12, 2018 (152)
166 ALFA NC_000005.10 - 148476770 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17639208 Oct 08, 2004 (123)
rs61240386 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79028948, ss84021509, ss93285406, ss113425919, ss116852658, ss162754474, ss165961171, ss167206637, ss201003683, ss206814628, ss253875808, ss278524061, ss293489896, ss481657600, ss491875569, ss1591774212, ss1712808908, ss3643530956 NC_000005.8:147836525:G:A NC_000005.10:148476769:G:A (self)
29378668, 16345907, 11636872, 8037760, 38289, 7560195, 585581, 7257860, 17066935, 217529, 6199038, 403084, 105409, 7537942, 15231610, 4030115, 32641339, 16345907, ss222027187, ss233191436, ss240305062, ss481688322, ss482654874, ss485623518, ss537507247, ss558783979, ss652687508, ss712668761, ss778613179, ss783257360, ss784210860, ss832518233, ss834070597, ss974457586, ss982241982, ss1067472495, ss1073128536, ss1317683531, ss1430534823, ss1581395256, ss1584041828, ss1614262677, ss1657256710, ss1688028704, ss1711101769, ss1752555118, ss1804130949, ss1925496012, ss1946158810, ss1958832614, ss1970233853, ss2023355096, ss2151513761, ss2626165912, ss2634354227, ss2707082842, ss2711051532, ss2735339314, ss2747484520, ss2832119576, ss2985970204, ss2997978657, ss3022540773, ss3346677390, ss3625886105, ss3629367122, ss3632277361, ss3633393685, ss3634115043, ss3635027831, ss3635796691, ss3636741006, ss3637549347, ss3638587447, ss3640735125, ss3644891808, ss3646326204, ss3653043726, ss3665898624, ss3732914173, ss3744261466, ss3745328005, ss3764204323, ss3772821962, ss3824127488, ss3825682899, ss3829560380, ss3863214630, ss3909889541, ss3984319541, ss3984319542, ss3984556037, ss3985177157, ss3986323964, ss5174672032, ss5315094073, ss5508252637, ss5623933643, ss5624151352, ss5624604577, ss5639111948, ss5799665296, ss5800124834, ss5835799030, ss5847276510, ss5848637743, ss5936528403, ss5967590721, ss5979758132, ss5980322428, ss5981231084 NC_000005.9:147856332:G:A NC_000005.10:148476769:G:A (self)
38637597, 207814512, 2991685, 460350, 45742065, 520196173, 1947275830, ss2279135927, ss3025459456, ss3648194185, ss3715925995, ss3726280487, ss3771238881, ss3807373409, ss4682818616, ss5237187685, ss5266252003, ss5464175037, ss5551111662, ss5711904961, ss5806863823, ss5855063049, ss5896796190 NC_000005.10:148476769:G:A NC_000005.10:148476769:G:A (self)
ss11759736 NT_029289.9:9019269:G:A NC_000005.10:148476769:G:A (self)
ss24682970, ss44628270, ss75040816, ss98774905, ss104249186, ss119566451, ss143429923, ss143518048, ss156150757, ss160908654, ss174520271 NT_029289.11:9019259:G:A NC_000005.10:148476769:G:A (self)
ss2735339314 NC_000005.9:147856332:G:C NC_000005.10:148476769: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.

1 citation for rs7733088
PMID Title Author Year Journal
22837378 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. Wilk JB et al. 2012 American journal of respiratory and critical care medicine
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