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dbSNP Short Genetic Variations

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.

rs1049305

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr7:30924207 (GRCh38.p12) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.47317 (59415/125568, TOPMED)
C=0.4999 (15677/31358, GnomAD)
G=0.458 (2295/5008, 1000G) (+ 5 more)
C=0.331 (1483/4480, Estonian)
C=0.380 (1463/3854, ALSPAC)
C=0.377 (1399/3708, TWINSUK)
C=0.30 (181/600, NorthernSweden)
C=0.32 (68/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AQP1 : 3 Prime UTR Variant
Publications
6 citations
Genomic View
See rs on genome
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.p12 chr 7 NC_000007.14:g.30924207G>C
GRCh37.p13 chr 7 NC_000007.13:g.30963822G>C
Colton blood group RefSeqGene (LRG_808) NG_007475.2:g.75814G>C
Gene: AQP1, aquaporin 1 (Colton blood group) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AQP1 transcript variant 1 NM_198098.3:c. N/A 3 Prime UTR Variant
AQP1 transcript variant 5 NM_001329872.2:c. N/A 3 Prime UTR 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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.47317 C=0.52683
gnomAD - Genomes Global Study-wide 31358 G=0.5001 C=0.4999
gnomAD - Genomes European Sub 18886 G=0.6339 C=0.3661
gnomAD - Genomes African Sub 8698 G=0.164 C=0.836
gnomAD - Genomes East Asian Sub 1552 G=0.651 C=0.349
gnomAD - Genomes Other Sub 1086 G=0.596 C=0.404
gnomAD - Genomes American Sub 848 G=0.54 C=0.46
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=0.57 C=0.43
1000Genomes Global Study-wide 5008 G=0.458 C=0.542
1000Genomes African Sub 1322 G=0.089 C=0.911
1000Genomes East Asian Sub 1008 G=0.606 C=0.394
1000Genomes Europe Sub 1006 G=0.610 C=0.390
1000Genomes South Asian Sub 978 G=0.59 C=0.41
1000Genomes American Sub 694 G=0.54 C=0.46
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.669 C=0.331
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.620 C=0.380
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.623 C=0.377
Northern Sweden ACPOP Study-wide 600 G=0.70 C=0.30
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.68 C=0.32
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= C Note
GRCh38.p12 chr 7 NC_000007.14:g.30924207= NC_000007.14:g.30924207G>C
GRCh37.p13 chr 7 NC_000007.13:g.30963822= NC_000007.13:g.30963822G>C
Colton blood group RefSeqGene (LRG_808) NG_007475.2:g.75814= NG_007475.2:g.75814G>C
AQP1 transcript variant 1 NM_198098.3:c.*578= NM_198098.3:c.*578G>C
AQP1 transcript variant 1 NM_198098.2:c.*578= NM_198098.2:c.*578G>C
AQP1 transcript variant 5 NM_001329872.2:c.*198= NM_001329872.2:c.*198G>C
AQP1 transcript variant 5 NM_001329872.1:c.*198= NM_001329872.1:c.*198G>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#.

73 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1522955 Oct 05, 2000 (86)
2 YUSUKE ss2986160 Jun 15, 2001 (96)
3 LEE ss4394126 May 29, 2002 (106)
4 LEE ss4414182 May 29, 2002 (106)
5 CGAP-GAI ss16223213 Feb 28, 2004 (121)
6 PERLEGEN ss24042761 Sep 20, 2004 (123)
7 PGA-UW-FHCRC ss35077989 May 24, 2005 (125)
8 ABI ss44813355 Mar 15, 2006 (126)
9 ILLUMINA ss65740313 Oct 16, 2006 (127)
10 AFFY ss76848231 Dec 08, 2007 (130)
11 HGSV ss77292149 Dec 07, 2007 (129)
12 KRIBB_YJKIM ss80730693 Dec 14, 2007 (130)
13 HUMANGENOME_JCVI ss98247455 Feb 02, 2009 (130)
14 BGI ss104414140 Dec 01, 2009 (131)
15 KRIBB_YJKIM ss104835853 Feb 02, 2009 (130)
16 1000GENOMES ss111757374 Jan 25, 2009 (130)
17 1000GENOMES ss113535524 Jan 25, 2009 (130)
18 ILLUMINA-UK ss116009148 Feb 14, 2009 (130)
19 ENSEMBL ss139929784 Dec 01, 2009 (131)
20 GMI ss154579604 Dec 01, 2009 (131)
21 ILLUMINA ss159901048 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162181972 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss163926995 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss166365147 Jul 04, 2010 (132)
25 ILLUMINA ss169045756 Jul 04, 2010 (132)
26 BUSHMAN ss203140968 Jul 04, 2010 (132)
27 1000GENOMES ss222992469 Jul 14, 2010 (132)
28 1000GENOMES ss233912351 Jul 15, 2010 (132)
29 1000GENOMES ss240879628 Jul 15, 2010 (132)
30 ILLUMINA ss244269235 Jul 04, 2010 (132)
31 GMI ss279244979 May 04, 2012 (137)
32 GMI ss285599364 Apr 25, 2013 (138)
33 PJP ss294040243 May 09, 2011 (134)
34 ILLUMINA ss479670170 Sep 08, 2015 (146)
35 ILLUMINA ss532742697 Sep 08, 2015 (146)
36 TISHKOFF ss559903827 Apr 25, 2013 (138)
37 SSMP ss654257677 Apr 25, 2013 (138)
38 EVA-GONL ss984110728 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1074485104 Aug 21, 2014 (142)
40 1000GENOMES ss1324515117 Aug 21, 2014 (142)
41 DDI ss1431073894 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1582134636 Apr 01, 2015 (144)
43 EVA_DECODE ss1593681743 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1617886366 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1660880399 Apr 01, 2015 (144)
46 EVA_SVP ss1712943776 Apr 01, 2015 (144)
47 HAMMER_LAB ss1804936516 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1927353900 Feb 12, 2016 (147)
49 GENOMED ss1970661795 Jul 19, 2016 (147)
50 JJLAB ss2024356298 Sep 14, 2016 (149)
51 USC_VALOUEV ss2152551999 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2292871509 Dec 20, 2016 (150)
53 TOPMED ss2461747390 Dec 20, 2016 (150)
54 SYSTEMSBIOZJU ss2626666185 Nov 08, 2017 (151)
55 GRF ss2708209931 Nov 08, 2017 (151)
56 GNOMAD ss2851408000 Nov 08, 2017 (151)
57 SWEGEN ss3000863777 Nov 08, 2017 (151)
58 ILLUMINA ss3022722440 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3025972313 Nov 08, 2017 (151)
60 CSHL ss3347508515 Nov 08, 2017 (151)
61 TOPMED ss3526273682 Nov 08, 2017 (151)
62 ILLUMINA ss3629784932 Oct 12, 2018 (152)
63 ILLUMINA ss3636846597 Oct 12, 2018 (152)
64 ILLUMINA ss3638689266 Oct 12, 2018 (152)
65 OMUKHERJEE_ADBS ss3646350755 Oct 12, 2018 (152)
66 URBANLAB ss3648594716 Oct 12, 2018 (152)
67 ILLUMINA ss3653252295 Oct 12, 2018 (152)
68 EGCUT_WGS ss3668792969 Jul 13, 2019 (153)
69 EVA_DECODE ss3719388995 Jul 13, 2019 (153)
70 ILLUMINA ss3726433284 Jul 13, 2019 (153)
71 ACPOP ss3734489922 Jul 13, 2019 (153)
72 EVA ss3766369575 Jul 13, 2019 (153)
73 KHV_HUMAN_GENOMES ss3809535325 Jul 13, 2019 (153)
74 1000Genomes NC_000007.13 - 30963822 Oct 12, 2018 (152)
75 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 30963822 Oct 12, 2018 (152)
76 Genetic variation in the Estonian population NC_000007.13 - 30963822 Oct 12, 2018 (152)
77 gnomAD - Genomes NC_000007.13 - 30963822 Jul 13, 2019 (153)
78 Northern Sweden NC_000007.13 - 30963822 Jul 13, 2019 (153)
79 TopMed NC_000007.14 - 30924207 Oct 12, 2018 (152)
80 UK 10K study - Twins NC_000007.13 - 30963822 Oct 12, 2018 (152)
81 A Vietnamese Genetic Variation Database NC_000007.13 - 30963822 Jul 13, 2019 (153)
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)
rs3173740 Jul 03, 2002 (106)
rs11537657 Apr 05, 2004 (121)
rs56417170 May 23, 2008 (130)
rs56688788 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77292149 NC_000007.11:30737061:G:C NC_000007.14:30924206:G:C (self)
ss76848231, ss111757374, ss113535524, ss116009148, ss159901048, ss162181972, ss163926995, ss166365147, ss203140968, ss244269235, ss279244979, ss285599364, ss294040243, ss1593681743, ss1712943776 NC_000007.12:30930346:G:C NC_000007.14:30924206:G:C (self)
36463390, 20331478, 14531217, 99633849, 7774787, 20331478, 4529665, ss222992469, ss233912351, ss240879628, ss479670170, ss532742697, ss559903827, ss654257677, ss984110728, ss1074485104, ss1324515117, ss1431073894, ss1582134636, ss1617886366, ss1660880399, ss1804936516, ss1927353900, ss1970661795, ss2024356298, ss2152551999, ss2461747390, ss2626666185, ss2708209931, ss2851408000, ss3000863777, ss3022722440, ss3347508515, ss3629784932, ss3636846597, ss3638689266, ss3646350755, ss3653252295, ss3668792969, ss3734489922, ss3766369575 NC_000007.13:30963821:G:C NC_000007.14:30924206:G:C (self)
361601880, ss2292871509, ss3025972313, ss3526273682, ss3648594716, ss3719388995, ss3726433284, ss3809535325 NC_000007.14:30924206:G:C NC_000007.14:30924206:G:C (self)
ss1522955, ss2986160, ss4394126, ss4414182, ss16223213, ss24042761, ss35077989, ss44813355, ss65740313, ss80730693, ss98247455, ss104414140, ss104835853, ss139929784, ss154579604, ss169045756 NT_007819.17:30953821:G:C NC_000007.14:30924206: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.

6 citations for rs1049305
PMID Title Author Year Journal
20101282 AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma. Liu W et al. 2010 Molecular vision
20360993 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. Dimasi DP et al. 2010 Molecular vision
21793635 Influence of aquaporin-1 gene polymorphism on water retention in liver cirrhosis. Fábrega E et al. 2011 Scandinavian journal of gastroenterology
25495276 A variant within the AQP1 3'-untranslated region is associated with running performance, but not weight changes, during an Ironman Triathlon. Saunders CJ et al. 2015 Journal of sports sciences
26632894 Association of ABO and Colton Blood Group Gene Polymorphisms With Hematological Traits Variation. Shahbazi S et al. 2015 Medicine
30840592 Genetic polymorphisms in aquaporin 1 as risk factors for malignant mesothelioma and biomarkers of response to cisplatin treatment. Senk B et al. 2019 Radiology and oncology

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.post246+3cda961