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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.

rs1800255

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:188999354 (GRCh38.p13) 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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.209717 (55510/264690, TOPMED)
A=0.251279 (63366/252174, ALFA)
A=0.249105 (54823/220080, GnomAD_exome) (+ 21 more)
A=0.210801 (29524/140056, GnomAD)
A=0.19209 (15116/78694, PAGE_STUDY)
A=0.32041 (22129/69064, ExAC)
A=0.28121 (4713/16760, 8.3KJPN)
A=0.2185 (1094/5008, 1000G)
A=0.2290 (1026/4480, Estonian)
A=0.2439 (940/3854, ALSPAC)
A=0.2424 (899/3708, TWINSUK)
A=0.2683 (786/2930, KOREAN)
A=0.2522 (462/1832, Korea1K)
A=0.1797 (280/1558, HapMap)
A=0.258 (257/998, GoNL)
A=0.206 (163/790, PRJEB37584)
A=0.163 (100/614, Vietnamese)
A=0.165 (99/600, NorthernSweden)
A=0.187 (100/534, MGP)
A=0.273 (78/286, FINRISK)
G=0.443 (108/244, SGDP_PRJ)
A=0.264 (57/216, Qatari)
A=0.33 (13/40, GENOME_DK)
G=0.46 (12/26, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COL3A1 : Missense Variant
Publications
31 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 252174 G=0.748721 A=0.251279, T=0.000000
European Sub 221198 G=0.744487 A=0.255513, T=0.000000
African Sub 7990 G=0.8807 A=0.1193, T=0.0000
African Others Sub 278 G=0.914 A=0.086, T=0.000
African American Sub 7712 G=0.8795 A=0.1205, T=0.0000
Asian Sub 3584 G=0.7374 A=0.2626, T=0.0000
East Asian Sub 2828 G=0.7373 A=0.2627, T=0.0000
Other Asian Sub 756 G=0.738 A=0.262, T=0.000
Latin American 1 Sub 1280 G=0.7844 A=0.2156, T=0.0000
Latin American 2 Sub 2292 G=0.7408 A=0.2592, T=0.0000
South Asian Sub 332 G=0.711 A=0.289, T=0.000
Other Sub 15498 G=0.74274 A=0.25726, T=0.00000


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=0.790283 A=0.209717
Allele Frequency Aggregator Total Global 252174 G=0.748721 A=0.251279, T=0.000000
Allele Frequency Aggregator European Sub 221198 G=0.744487 A=0.255513, T=0.000000
Allele Frequency Aggregator Other Sub 15498 G=0.74274 A=0.25726, T=0.00000
Allele Frequency Aggregator African Sub 7990 G=0.8807 A=0.1193, T=0.0000
Allele Frequency Aggregator Asian Sub 3584 G=0.7374 A=0.2626, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2292 G=0.7408 A=0.2592, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1280 G=0.7844 A=0.2156, T=0.0000
Allele Frequency Aggregator South Asian Sub 332 G=0.711 A=0.289, T=0.000
gnomAD - Exomes Global Study-wide 220080 G=0.750895 A=0.249105
gnomAD - Exomes European Sub 115602 G=0.747003 A=0.252997
gnomAD - Exomes Asian Sub 44408 G=0.72408 A=0.27592
gnomAD - Exomes American Sub 31144 G=0.76326 A=0.23674
gnomAD - Exomes African Sub 13934 G=0.88446 A=0.11554
gnomAD - Exomes Ashkenazi Jewish Sub 9476 G=0.6970 A=0.3030
gnomAD - Exomes Other Sub 5516 G=0.7337 A=0.2663
gnomAD - Genomes Global Study-wide 140056 G=0.789199 A=0.210801
gnomAD - Genomes European Sub 75864 G=0.74790 A=0.25210
gnomAD - Genomes African Sub 41958 G=0.87959 A=0.12041
gnomAD - Genomes American Sub 13636 G=0.76657 A=0.23343
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7002 A=0.2998
gnomAD - Genomes East Asian Sub 3128 G=0.7788 A=0.2212
gnomAD - Genomes Other Sub 2148 G=0.7784 A=0.2216
The PAGE Study Global Study-wide 78694 G=0.80791 A=0.19209
The PAGE Study AfricanAmerican Sub 32512 G=0.87641 A=0.12359
The PAGE Study Mexican Sub 10810 G=0.75957 A=0.24043
The PAGE Study Asian Sub 8316 G=0.7348 A=0.2652
The PAGE Study PuertoRican Sub 7918 G=0.7689 A=0.2311
The PAGE Study NativeHawaiian Sub 4532 G=0.7763 A=0.2237
The PAGE Study Cuban Sub 4230 G=0.7671 A=0.2329
The PAGE Study Dominican Sub 3828 G=0.8101 A=0.1899
The PAGE Study CentralAmerican Sub 2450 G=0.7698 A=0.2302
The PAGE Study SouthAmerican Sub 1982 G=0.6771 A=0.3229
The PAGE Study NativeAmerican Sub 1260 G=0.7722 A=0.2278
The PAGE Study SouthAsian Sub 856 G=0.711 A=0.289
ExAC Global Study-wide 69064 G=0.67959 A=0.32041
ExAC Europe Sub 41048 G=0.66546 A=0.33454
ExAC Asian Sub 16560 G=0.66437 A=0.33563
ExAC African Sub 5926 G=0.8405 A=0.1595
ExAC American Sub 4980 G=0.6568 A=0.3432
ExAC Other Sub 550 G=0.664 A=0.336
8.3KJPN JAPANESE Study-wide 16760 G=0.71879 A=0.28121
1000Genomes Global Study-wide 5008 G=0.7815 A=0.2185
1000Genomes African Sub 1322 G=0.8949 A=0.1051
1000Genomes East Asian Sub 1008 G=0.7669 A=0.2331
1000Genomes Europe Sub 1006 G=0.7376 A=0.2624
1000Genomes South Asian Sub 978 G=0.713 A=0.287
1000Genomes American Sub 694 G=0.748 A=0.252
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7710 A=0.2290
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7561 A=0.2439
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7576 A=0.2424
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7317 A=0.2683, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.7478 A=0.2522
HapMap Global Study-wide 1558 G=0.8203 A=0.1797
HapMap American Sub 648 G=0.773 A=0.227
HapMap African Sub 572 G=0.925 A=0.075
HapMap Europe Sub 174 G=0.759 A=0.241
HapMap Asian Sub 164 G=0.707 A=0.293
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.742 A=0.258
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.794 A=0.206
CNV burdens in cranial meningiomas CRM Sub 790 G=0.794 A=0.206
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.837 A=0.163
Northern Sweden ACPOP Study-wide 600 G=0.835 A=0.165
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.813 A=0.187
FINRISK Finnish from FINRISK project Study-wide 286 G=0.727 A=0.273
SGDP_PRJ Global Study-wide 244 G=0.443 A=0.557
Qatari Global Study-wide 216 G=0.736 A=0.264
The Danish reference pan genome Danish Study-wide 40 G=0.68 A=0.33
Siberian Global Study-wide 26 G=0.46 A=0.54
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.p13 chr 2 NC_000002.12:g.188999354G>A
GRCh38.p13 chr 2 NC_000002.12:g.188999354G>C
GRCh38.p13 chr 2 NC_000002.12:g.188999354G>T
GRCh37.p13 chr 2 NC_000002.11:g.189864080G>A
GRCh37.p13 chr 2 NC_000002.11:g.189864080G>C
GRCh37.p13 chr 2 NC_000002.11:g.189864080G>T
COL3A1 RefSeqGene (LRG_3) NG_007404.1:g.29982G>A
COL3A1 RefSeqGene (LRG_3) NG_007404.1:g.29982G>C
COL3A1 RefSeqGene (LRG_3) NG_007404.1:g.29982G>T
Gene: COL3A1, collagen type III alpha 1 chain (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COL3A1 transcript NM_000090.4:c.2092G>A A [GCT] > T [ACT] Coding Sequence Variant
collagen alpha-1(III) chain preproprotein NP_000081.2:p.Ala698Thr A (Ala) > T (Thr) Missense Variant
COL3A1 transcript NM_000090.4:c.2092G>C A [GCT] > P [CCT] Coding Sequence Variant
collagen alpha-1(III) chain preproprotein NP_000081.2:p.Ala698Pro A (Ala) > P (Pro) Missense Variant
COL3A1 transcript NM_000090.4:c.2092G>T A [GCT] > S [TCT] Coding Sequence Variant
collagen alpha-1(III) chain preproprotein NP_000081.2:p.Ala698Ser A (Ala) > S (Ser) Missense 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: A (allele ID: 32244 )
ClinVar Accession Disease Names Clinical Significance
RCV000018745.2 COLLAGEN TYPE III POLYMORPHISM Benign
RCV000177438.6 not specified Benign
RCV000251322.1 Cardiovascular phenotype Benign
RCV000395000.2 Ehlers-Danlos syndrome, type 4 Benign
RCV000775991.1 Familial thoracic aortic aneurysm and aortic dissection Benign
RCV001283245.1 none 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 G= A C T
GRCh38.p13 chr 2 NC_000002.12:g.188999354= NC_000002.12:g.188999354G>A NC_000002.12:g.188999354G>C NC_000002.12:g.188999354G>T
GRCh37.p13 chr 2 NC_000002.11:g.189864080= NC_000002.11:g.189864080G>A NC_000002.11:g.189864080G>C NC_000002.11:g.189864080G>T
COL3A1 RefSeqGene (LRG_3) NG_007404.1:g.29982= NG_007404.1:g.29982G>A NG_007404.1:g.29982G>C NG_007404.1:g.29982G>T
COL3A1 transcript NM_000090.4:c.2092= NM_000090.4:c.2092G>A NM_000090.4:c.2092G>C NM_000090.4:c.2092G>T
COL3A1 transcript NM_000090.3:c.2092= NM_000090.3:c.2092G>A NM_000090.3:c.2092G>C NM_000090.3:c.2092G>T
collagen alpha-1(III) chain preproprotein NP_000081.2:p.Ala698= NP_000081.2:p.Ala698Thr NP_000081.2:p.Ala698Pro NP_000081.2:p.Ala698Ser
collagen alpha-1(III) chain preproprotein NP_000081.1:p.Ala698= NP_000081.1:p.Ala698Thr NP_000081.1:p.Ala698Pro NP_000081.1:p.Ala698Ser
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#.

128 SubSNP, 24 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420328 Nov 14, 2000 (89)
2 YUSUKE ss5003731 Aug 28, 2002 (110)
3 WIPGA ss16338437 Feb 27, 2004 (120)
4 IMCJ-GDT ss22886917 Apr 05, 2004 (121)
5 PERLEGEN ss24314634 Sep 20, 2004 (123)
6 APPLERA_GI ss48423012 Mar 15, 2006 (126)
7 UCSF_HG ss52051129 Oct 15, 2006 (127)
8 ILLUMINA ss65725866 Oct 15, 2006 (127)
9 PERLEGEN ss68838491 May 17, 2007 (127)
10 AFFY ss74807132 Aug 16, 2007 (128)
11 ILLUMINA ss74874758 Dec 06, 2007 (129)
12 CGM_KYOTO ss76874293 Dec 06, 2007 (129)
13 HGSV ss77658378 Dec 06, 2007 (129)
14 BCMHGSC_JDW ss91484011 Mar 24, 2008 (129)
15 1000GENOMES ss110465211 Jan 24, 2009 (130)
16 ILLUMINA ss120036628 Dec 01, 2009 (131)
17 ENSEMBL ss138598881 Dec 01, 2009 (131)
18 SEATTLESEQ ss159703318 Dec 01, 2009 (131)
19 ILLUMINA ss160462784 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss165750204 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss167493201 Jul 04, 2010 (132)
22 ILLUMINA ss172924548 Jul 04, 2010 (132)
23 BUSHMAN ss201517195 Jul 04, 2010 (132)
24 RSG_UW ss212964958 Jul 04, 2010 (132)
25 1000GENOMES ss219716358 Jul 14, 2010 (132)
26 1000GENOMES ss231517660 Jul 14, 2010 (132)
27 1000GENOMES ss238994908 Jul 15, 2010 (132)
28 ILLUMINA ss244285003 Jul 04, 2010 (132)
29 OMIM-CURATED-RECORDS ss275514261 Nov 22, 2010 (133)
30 GMI ss276833643 May 04, 2012 (137)
31 NHLBI-ESP ss342090513 May 09, 2011 (134)
32 ILLUMINA ss480300316 May 04, 2012 (137)
33 ILLUMINA ss480311417 May 04, 2012 (137)
34 ILLUMINA ss481066926 Sep 08, 2015 (146)
35 ILLUMINA ss484947969 May 04, 2012 (137)
36 1000GENOMES ss489844053 May 04, 2012 (137)
37 EXOME_CHIP ss491328877 May 04, 2012 (137)
38 ILLUMINA ss535522161 Sep 08, 2015 (146)
39 TISHKOFF ss556108397 Apr 25, 2013 (138)
40 SSMP ss649771366 Apr 25, 2013 (138)
41 ILLUMINA ss780808442 Sep 08, 2015 (146)
42 ILLUMINA ss782920293 Sep 08, 2015 (146)
43 ILLUMINA ss783490175 Sep 08, 2015 (146)
44 ILLUMINA ss783883331 Sep 08, 2015 (146)
45 ILLUMINA ss832175417 Sep 08, 2015 (146)
46 ILLUMINA ss833923521 Sep 08, 2015 (146)
47 EVA-GONL ss977770773 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1067443558 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1069799001 Aug 21, 2014 (142)
50 1000GENOMES ss1300902146 Aug 21, 2014 (142)
51 DDI ss1428856981 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1579249593 Apr 01, 2015 (144)
53 EVA_FINRISK ss1584022782 Apr 01, 2015 (144)
54 EVA_DECODE ss1587215820 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1605401634 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1648395667 Apr 01, 2015 (144)
57 EVA_EXAC ss1686651834 Apr 01, 2015 (144)
58 EVA_MGP ss1710990691 Apr 01, 2015 (144)
59 EVA_SVP ss1712517898 Apr 01, 2015 (144)
60 ILLUMINA ss1752329685 Sep 08, 2015 (146)
61 ILLUMINA ss1917757707 Feb 12, 2016 (147)
62 WEILL_CORNELL_DGM ss1921018717 Feb 12, 2016 (147)
63 ILLUMINA ss1946061703 Feb 12, 2016 (147)
64 ILLUMINA ss1958489631 Feb 12, 2016 (147)
65 GENOMED ss1968981030 Jul 19, 2016 (147)
66 JJLAB ss2021050320 Sep 14, 2016 (149)
67 USC_VALOUEV ss2149115003 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2237577231 Dec 20, 2016 (150)
69 TOPMED ss2404011377 Dec 20, 2016 (150)
70 ILLUMINA ss2633718527 Nov 08, 2017 (151)
71 GRF ss2703757791 Nov 08, 2017 (151)
72 GNOMAD ss2733201667 Nov 08, 2017 (151)
73 GNOMAD ss2746841824 Nov 08, 2017 (151)
74 GNOMAD ss2784181497 Nov 08, 2017 (151)
75 AFFY ss2985194958 Nov 08, 2017 (151)
76 SWEGEN ss2991059610 Nov 08, 2017 (151)
77 ILLUMINA ss3022052095 Nov 08, 2017 (151)
78 EVA_SAMSUNG_MC ss3023058793 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3024286121 Nov 08, 2017 (151)
80 TOPMED ss3333417462 Nov 08, 2017 (151)
81 CSHL ss3344662014 Nov 08, 2017 (151)
82 ILLUMINA ss3628247187 Oct 11, 2018 (152)
83 ILLUMINA ss3628247188 Oct 11, 2018 (152)
84 ILLUMINA ss3631679476 Oct 11, 2018 (152)
85 ILLUMINA ss3633228714 Oct 11, 2018 (152)
86 ILLUMINA ss3633941662 Oct 11, 2018 (152)
87 ILLUMINA ss3634804205 Oct 11, 2018 (152)
88 ILLUMINA ss3634804206 Oct 11, 2018 (152)
89 ILLUMINA ss3635627211 Oct 11, 2018 (152)
90 ILLUMINA ss3636493499 Oct 11, 2018 (152)
91 ILLUMINA ss3637379221 Oct 11, 2018 (152)
92 ILLUMINA ss3638308493 Oct 11, 2018 (152)
93 ILLUMINA ss3640511504 Oct 11, 2018 (152)
94 ILLUMINA ss3640511505 Oct 11, 2018 (152)
95 ILLUMINA ss3641118593 Oct 11, 2018 (152)
96 ILLUMINA ss3641414677 Oct 11, 2018 (152)
97 ILLUMINA ss3643273956 Oct 11, 2018 (152)
98 ILLUMINA ss3644764365 Oct 11, 2018 (152)
99 OMUKHERJEE_ADBS ss3646276215 Oct 11, 2018 (152)
100 ILLUMINA ss3652499710 Oct 11, 2018 (152)
101 ILLUMINA ss3653962215 Oct 11, 2018 (152)
102 EGCUT_WGS ss3658941288 Jul 13, 2019 (153)
103 EVA_DECODE ss3705658669 Jul 13, 2019 (153)
104 ILLUMINA ss3725856466 Jul 13, 2019 (153)
105 ACPOP ss3729214044 Jul 13, 2019 (153)
106 ILLUMINA ss3744484830 Jul 13, 2019 (153)
107 ILLUMINA ss3745104040 Jul 13, 2019 (153)
108 ILLUMINA ss3745104041 Jul 13, 2019 (153)
109 EVA ss3757865143 Jul 13, 2019 (153)
110 PAGE_CC ss3770973462 Jul 13, 2019 (153)
111 ILLUMINA ss3772600595 Jul 13, 2019 (153)
112 KHV_HUMAN_GENOMES ss3802223653 Jul 13, 2019 (153)
113 EVA ss3823837768 Apr 25, 2020 (154)
114 EVA ss3825520111 Apr 25, 2020 (154)
115 EVA ss3825615198 Apr 25, 2020 (154)
116 EVA ss3827414726 Apr 25, 2020 (154)
117 EVA ss3837126561 Apr 25, 2020 (154)
118 EVA ss3842547241 Apr 25, 2020 (154)
119 SGDP_PRJ ss3854218625 Apr 25, 2020 (154)
120 KRGDB ss3899883242 Apr 25, 2020 (154)
121 KOGIC ss3949724261 Apr 25, 2020 (154)
122 FSA-LAB ss3984196972 Apr 26, 2021 (155)
123 EVA ss3984495360 Apr 26, 2021 (155)
124 EVA ss3986208105 Apr 26, 2021 (155)
125 EVA ss4017040208 Apr 26, 2021 (155)
126 TOPMED ss4537975448 Apr 26, 2021 (155)
127 TOMMO_GENOMICS ss5155653245 Apr 26, 2021 (155)
128 EVA ss5236976728 Apr 26, 2021 (155)
129 1000Genomes NC_000002.11 - 189864080 Oct 11, 2018 (152)
130 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 189864080 Oct 11, 2018 (152)
131 Genetic variation in the Estonian population NC_000002.11 - 189864080 Oct 11, 2018 (152)
132 ExAC NC_000002.11 - 189864080 Oct 11, 2018 (152)
133 FINRISK NC_000002.11 - 189864080 Apr 25, 2020 (154)
134 The Danish reference pan genome NC_000002.11 - 189864080 Apr 25, 2020 (154)
135 gnomAD - Genomes NC_000002.12 - 188999354 Apr 26, 2021 (155)
136 gnomAD - Exomes NC_000002.11 - 189864080 Jul 13, 2019 (153)
137 Genome of the Netherlands Release 5 NC_000002.11 - 189864080 Apr 25, 2020 (154)
138 HapMap NC_000002.12 - 188999354 Apr 25, 2020 (154)
139 KOREAN population from KRGDB NC_000002.11 - 189864080 Apr 25, 2020 (154)
140 Korean Genome Project NC_000002.12 - 188999354 Apr 25, 2020 (154)
141 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 189864080 Apr 25, 2020 (154)
142 Northern Sweden NC_000002.11 - 189864080 Jul 13, 2019 (153)
143 The PAGE Study NC_000002.12 - 188999354 Jul 13, 2019 (153)
144 CNV burdens in cranial meningiomas NC_000002.11 - 189864080 Apr 26, 2021 (155)
145 Qatari NC_000002.11 - 189864080 Apr 25, 2020 (154)
146 SGDP_PRJ NC_000002.11 - 189864080 Apr 25, 2020 (154)
147 Siberian NC_000002.11 - 189864080 Apr 25, 2020 (154)
148 8.3KJPN NC_000002.11 - 189864080 Apr 26, 2021 (155)
149 TopMed NC_000002.12 - 188999354 Apr 26, 2021 (155)
150 UK 10K study - Twins NC_000002.11 - 189864080 Oct 11, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000002.11 - 189864080 Jul 13, 2019 (153)
152 ALFA NC_000002.12 - 188999354 Apr 26, 2021 (155)
153 ClinVar RCV000018745.2 Oct 11, 2018 (152)
154 ClinVar RCV000177438.6 Apr 26, 2021 (155)
155 ClinVar RCV000251322.1 Oct 11, 2018 (152)
156 ClinVar RCV000395000.2 Apr 26, 2021 (155)
157 ClinVar RCV000775991.1 Jul 13, 2019 (153)
158 ClinVar RCV001283245.1 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)
rs3817316 Dec 16, 2002 (110)
rs17831227 Oct 07, 2004 (123)
rs52832986 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77658378 NC_000002.9:189689585:G:A NC_000002.12:188999353:G:A (self)
ss91484011, ss110465211, ss165750204, ss167493201, ss201517195, ss276833643, ss480300316, ss1587215820, ss1712517898, ss3643273956 NC_000002.10:189572324:G:A NC_000002.12:188999353:G:A (self)
11978467, 6618765, 4679536, 6549567, 19243, 5414532, 2263711, 2908005, 7060636, 107230, 2498909, 44696, 3060647, 6235605, 1631357, 13622552, 6618765, 1443160, ss219716358, ss231517660, ss238994908, ss342090513, ss480311417, ss481066926, ss484947969, ss489844053, ss491328877, ss535522161, ss556108397, ss649771366, ss780808442, ss782920293, ss783490175, ss783883331, ss832175417, ss833923521, ss977770773, ss1067443558, ss1069799001, ss1300902146, ss1428856981, ss1579249593, ss1584022782, ss1605401634, ss1648395667, ss1686651834, ss1710990691, ss1752329685, ss1917757707, ss1921018717, ss1946061703, ss1958489631, ss1968981030, ss2021050320, ss2149115003, ss2404011377, ss2633718527, ss2703757791, ss2733201667, ss2746841824, ss2784181497, ss2985194958, ss2991059610, ss3022052095, ss3023058793, ss3344662014, ss3628247187, ss3628247188, ss3631679476, ss3633228714, ss3633941662, ss3634804205, ss3634804206, ss3635627211, ss3636493499, ss3637379221, ss3638308493, ss3640511504, ss3640511505, ss3641118593, ss3641414677, ss3644764365, ss3646276215, ss3652499710, ss3653962215, ss3658941288, ss3729214044, ss3744484830, ss3745104040, ss3745104041, ss3757865143, ss3772600595, ss3823837768, ss3825520111, ss3825615198, ss3827414726, ss3837126561, ss3854218625, ss3899883242, ss3984196972, ss3984495360, ss3986208105, ss4017040208, ss5155653245 NC_000002.11:189864079:G:A NC_000002.12:188999353:G:A (self)
RCV000018745.2, RCV000177438.6, RCV000251322.1, RCV000395000.2, RCV000775991.1, RCV001283245.1, 85377119, 1974200, 6102262, 194931, 213322543, 341798327, 7850810581, ss275514261, ss2237577231, ss3024286121, ss3333417462, ss3705658669, ss3725856466, ss3770973462, ss3802223653, ss3842547241, ss3949724261, ss4537975448, ss5236976728 NC_000002.12:188999353:G:A NC_000002.12:188999353:G:A (self)
ss2420328, ss5003731, ss16338437, ss22886917, ss24314634, ss48423012, ss52051129, ss65725866, ss68838491, ss74807132, ss74874758, ss76874293, ss120036628, ss138598881, ss159703318, ss160462784, ss172924548, ss212964958, ss244285003 NT_005403.17:40073497:G:A NC_000002.12:188999353:G:A (self)
7060636, ss3899883242 NC_000002.11:189864079:G:C NC_000002.12:188999353:G:C (self)
7850810581 NC_000002.12:188999353:G:T NC_000002.12:188999353:G:T
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

31 citations for rs1800255
PMID Title Author Year Journal
2235526 G to A polymorphism in exon 31 of the COL3A1 gene. Zafarullah K et al. 1990 Nucleic acids research
18642782 [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm]. Hua T et al. 2008 Zhonghua yi xue za zhi
18722615 Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse. Chen HY et al. 2008 International journal of gynaecology and obstetrics
19398442 Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia. Asling B et al. 2009 Gut
19444361 COL3A1 2209G>A is a predictor of pelvic organ prolapse. Kluivers KB et al. 2009 International urogynecology journal and pelvic floor dysfunction
21219851 A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA. Naing BT et al. 2011 Biochemical and biophysical research communications
22241462 A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms. Chen J et al. 2012 Human genetics
22879966 Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. Verschuren JJ et al. 2012 PloS one
22894972 Collagen genes and exercise-associated muscle cramping. O'Connell K et al. 2013 Clinical journal of sport medicine
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24194833 Using information interaction to discover epistatic effects in complex diseases. Anunciação O et al. 2013 PloS one
24664438 Variants of COL3A1 are associated with the risk of stroke recurrence and prognosis in the Chinese population: a prospective study. Lv W et al. 2014 Journal of molecular neuroscience
24721264 Genetic epidemiology of pelvic organ prolapse: a systematic review. Ward RM et al. 2014 American journal of obstetrics and gynecology
24760181 Collagen type III alpha 1 polymorphism (rs1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population. Lince SL et al. 2014 International urogynecology journal
25073002 Interactions between collagen gene variants and risk of anterior cruciate ligament rupture. O'Connell K et al. 2015 European journal of sport science
25111588 Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. Cartwright R et al. 2015 American journal of obstetrics and gynecology
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
27277665 Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. Zholdybayeva EV et al. 2016 Human genomics
27874104 Identifying mutations in Tunisian families with retinal dystrophy. Habibi I et al. 2016 Scientific reports
28102489 Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review. Kaynak M et al. 2017 Sports medicine (Auckland, N.Z.)
28394528 [Female pelvic floor dysfunction from the perspectives of genetic studies]. Akulenko LV et al. 2017 Urologiia (Moscow, Russia
29086084 The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis. Meng Q et al. 2019 Neurosurgical review
29376591 [Association of polymorphism of 1800255 COL3A1 gene with pelvic organ prolapse and urinary incontinence in women: preliminary data]. Kasyan GR et al. 2017 Urologiia (Moscow, Russia
29498185 Collagen type III and elastin genes polymorphism and the risk of nonsyndromic striae. Kasielska-Trojan A et al. 2019 Journal of cosmetic dermatology
29533249 A Variant of COL3A1 (rs3134646) Is Associated With Risk of Developing Diverticulosis in White Men. Reichert MC et al. 2018 Diseases of the colon and rectum
30121816 Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population. Zholdybayeva EV et al. 2018 Journal of molecular neuroscience
30182779 Genetic susceptibility to cerebrovascular disease: A systematic review. Griessenauer CJ et al. 2018 Journal of cerebral blood flow and metabolism
30485117 No Association Between Risk of Anterior Cruciate Ligament Rupture and Selected Candidate Collagen Gene Variants in Female Elite Athletes From High-Risk Team Sports. Sivertsen EA et al. 2019 The American journal of sports medicine
31041498 Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse. Teixeira FH et al. 2020 International urogynecology journal
32240281 Epistasis of polymorphisms related to the articular cartilage extracellular matrix in knee osteoarthritis: Analysis-based multifactor dimensionality reduction. Fernández-Torres J et al. 2020 Genetics and molecular biology
32692893 Collagen I and collagen III polymorphisms in women with pelvic organ prolapse. Batista NC et al. 2020 Neurourology and urodynamics
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.post676+237644a