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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.

rs200412910

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr3:120682104 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000358 (90/251302, GnomAD_exome)
G=0.000263 (33/125568, TOPMED)
G=0.000527 (64/121394, ExAC) (+ 10 more)
G=0.00038 (36/94976, ALFA Project)
G=0.00019 (15/78702, PAGE_STUDY)
G=0.00019 (6/31410, GnomAD)
G=0.00015 (2/12998, GO-ESP)
G=0.0002 (1/5008, 1000G)
G=0.0002 (1/4480, Estonian)
G=0.0008 (3/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.001 (1/998, GoNL)
G=0.018 (11/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HGD : Missense Variant
Publications
0 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 3 NC_000003.12:g.120682104T>G
GRCh37.p13 chr 3 NC_000003.11:g.120400951T>G
HGD RefSeqGene NG_011957.1:g.5378A>C
Gene: HGD, homogentisate 1,2-dioxygenase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HGD transcript NM_000187.4:c.8A>C E [GAG] > A [GCG] Coding Sequence Variant
homogentisate 1,2-dioxygenase NP_000178.2:p.Glu3Ala E (Glu) > A (Ala) Missense Variant
HGD transcript variant X3 XM_017006277.2:c.-504= N/A 5 Prime UTR Variant
HGD transcript variant X1 XM_005247412.2:c.8A>C E [GAG] > A [GCG] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X1 XP_005247469.1:p.Glu3Ala E (Glu) > A (Ala) Missense Variant
HGD transcript variant X2 XM_005247413.2:c.8A>C E [GAG] > A [GCG] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X2 XP_005247470.1:p.Glu3Ala E (Glu) > A (Ala) Missense Variant
HGD transcript variant X4 XM_011512746.2:c.8A>C E [GAG] > A [GCG] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X4 XP_011511048.1:p.Glu3Ala E (Glu) > A (Ala) Missense Variant
HGD transcript variant X5 XM_005247414.5:c.8A>C E [GAG] > A [GCG] Coding Sequence Variant
homogentisate 1,2-dioxygenase isoform X5 XP_005247471.1:p.Glu3Ala E (Glu) > A (Ala) 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: G (allele ID: 542905 )
ClinVar Accession Disease Names Clinical Significance
RCV000671567.1 Alkaptonuria Uncertain-Significance

ALFA Allele Frequency (New)
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 198970 T=0.999658 G=0.000342
European Sub 174408 T=0.999645 G=0.000355
African Sub 4952 T=1.0000 G=0.0000
African Others Sub 176 T=1.000 G=0.000
African American Sub 4776 T=1.0000 G=0.0000
Asian Sub 3394 T=1.0000 G=0.0000
East Asian Sub 2712 T=1.0000 G=0.0000
Other Asian Sub 682 T=1.000 G=0.000
Latin American 1 Sub 796 T=1.000 G=0.000
Latin American 2 Sub 968 T=0.999 G=0.001
South Asian Sub 280 T=1.000 G=0.000
Other Sub 14172 T=0.99965 G=0.00035


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
gnomAD - Exomes Global Study-wide 251302 T=0.999642 G=0.000358
gnomAD - Exomes European Sub 135250 T=0.999401 G=0.000599
gnomAD - Exomes Asian Sub 49008 T=1.00000 G=0.00000
gnomAD - Exomes American Sub 34582 T=0.99986 G=0.00014
gnomAD - Exomes African Sub 16256 T=0.99982 G=0.00018
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6128 T=0.9998 G=0.0002
TopMed Global Study-wide 125568 T=0.999737 G=0.000263
ExAC Global Study-wide 121394 T=0.999473 G=0.000527
ExAC Europe Sub 73350 T=0.99918 G=0.00082
ExAC Asian Sub 25162 T=1.00000 G=0.00000
ExAC American Sub 11568 T=0.99991 G=0.00009
ExAC African Sub 10406 T=0.99981 G=0.00019
ExAC Other Sub 908 T=0.999 G=0.001
ALFA Total Global 94976 T=0.99962 G=0.00038
ALFA European Sub 85592 T=0.99961 G=0.00039
ALFA Other Sub 8328 T=0.9996 G=0.0004
ALFA African Sub 844 T=1.000 G=0.000
ALFA Asian Sub 170 T=1.000 G=0.000
ALFA Latin American 2 Sub 22 T=1.00 G=0.00
ALFA South Asian Sub 14 T=1.00 G=0.00
ALFA Latin American 1 Sub 6 T=1.0 G=0.0
The PAGE Study Global Study-wide 78702 T=0.99981 G=0.00019
The PAGE Study AfricanAmerican Sub 32516 T=0.99991 G=0.00009
The PAGE Study Mexican Sub 10810 T=0.99954 G=0.00046
The PAGE Study Asian Sub 8318 T=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 T=0.9999 G=0.0001
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 G=0.0000
The PAGE Study Cuban Sub 4230 T=0.9986 G=0.0014
The PAGE Study Dominican Sub 3828 T=1.0000 G=0.0000
The PAGE Study CentralAmerican Sub 2450 T=1.0000 G=0.0000
The PAGE Study SouthAmerican Sub 1982 T=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 G=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 G=0.000
gnomAD - Genomes Global Study-wide 31410 T=0.99981 G=0.00019
gnomAD - Genomes European Sub 18910 T=0.99974 G=0.00026
gnomAD - Genomes African Sub 8714 T=0.9999 G=0.0001
gnomAD - Genomes East Asian Sub 1560 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 1088 T=1.0000 G=0.0000
gnomAD - Genomes American Sub 848 T=1.000 G=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 12998 T=0.99985 G=0.00015
GO Exome Sequencing Project European American Sub 8592 T=0.9998 G=0.0002
GO Exome Sequencing Project African American Sub 4406 T=1.0000 G=0.0000
1000Genomes Global Study-wide 5008 T=0.9998 G=0.0002
1000Genomes African Sub 1322 T=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 T=1.0000 G=0.0000
1000Genomes Europe Sub 1006 T=0.9990 G=0.0010
1000Genomes South Asian Sub 978 T=1.000 G=0.000
1000Genomes American Sub 694 T=1.000 G=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9998 G=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9992 G=0.0008
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=1.0000 G=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.999 G=0.001
Northern Sweden ACPOP Study-wide 600 T=0.982 G=0.018
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 T= G
GRCh38.p12 chr 3 NC_000003.12:g.120682104= NC_000003.12:g.120682104T>G
GRCh37.p13 chr 3 NC_000003.11:g.120400951= NC_000003.11:g.120400951T>G
HGD RefSeqGene NG_011957.1:g.5378= NG_011957.1:g.5378A>C
HGD transcript NM_000187.4:c.8= NM_000187.4:c.8A>C
HGD transcript NM_000187.3:c.8= NM_000187.3:c.8A>C
HGD transcript variant X5 XM_005247414.5:c.8= XM_005247414.5:c.8A>C
HGD transcript variant X3 XM_005247414.1:c.8= XM_005247414.1:c.8A>C
HGD transcript variant X3 XM_017006277.2:c.-504= XM_017006277.2:c.-504A>C
HGD transcript variant X1 XM_005247412.2:c.8= XM_005247412.2:c.8A>C
HGD transcript variant X1 XM_005247412.1:c.8= XM_005247412.1:c.8A>C
HGD transcript variant X2 XM_005247413.2:c.8= XM_005247413.2:c.8A>C
HGD transcript variant X2 XM_005247413.1:c.8= XM_005247413.1:c.8A>C
HGD transcript variant X4 XM_011512746.2:c.8= XM_011512746.2:c.8A>C
homogentisate 1,2-dioxygenase NP_000178.2:p.Glu3= NP_000178.2:p.Glu3Ala
homogentisate 1,2-dioxygenase isoform X5 XP_005247471.1:p.Glu3= XP_005247471.1:p.Glu3Ala
homogentisate 1,2-dioxygenase isoform X1 XP_005247469.1:p.Glu3= XP_005247469.1:p.Glu3Ala
homogentisate 1,2-dioxygenase isoform X2 XP_005247470.1:p.Glu3= XP_005247470.1:p.Glu3Ala
homogentisate 1,2-dioxygenase isoform X4 XP_011511048.1:p.Glu3= XP_011511048.1:p.Glu3Ala
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#.

44 SubSNP, 13 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss488765886 May 04, 2012 (137)
2 EXOME_CHIP ss491344693 May 04, 2012 (137)
3 NHLBI-ESP ss712547099 Apr 25, 2013 (138)
4 ILLUMINA ss780820719 Sep 08, 2015 (146)
5 ILLUMINA ss783503136 Sep 08, 2015 (146)
6 EVA-GONL ss979084054 Aug 21, 2014 (142)
7 1000GENOMES ss1305860538 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1608059898 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1651053931 Apr 01, 2015 (144)
10 EVA_EXAC ss1687158626 Apr 01, 2015 (144)
11 ILLUMINA ss1752435084 Sep 08, 2015 (146)
12 ILLUMINA ss1917771375 Feb 12, 2016 (147)
13 ILLUMINA ss1946093460 Feb 12, 2016 (147)
14 ILLUMINA ss1946093461 Feb 12, 2016 (147)
15 ILLUMINA ss1958598428 Feb 12, 2016 (147)
16 ILLUMINA ss1958598429 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2255255482 Dec 20, 2016 (150)
18 TOPMED ss2422579863 Dec 20, 2016 (150)
19 GNOMAD ss2733990779 Nov 08, 2017 (151)
20 GNOMAD ss2747077689 Nov 08, 2017 (151)
21 GNOMAD ss2798282701 Nov 08, 2017 (151)
22 AFFY ss2985267502 Nov 08, 2017 (151)
23 SWEGEN ss2993074760 Nov 08, 2017 (151)
24 ILLUMINA ss3022278803 Nov 08, 2017 (151)
25 ILLUMINA ss3022278804 Nov 08, 2017 (151)
26 TOPMED ss3403604753 Nov 08, 2017 (151)
27 ILLUMINA ss3625824242 Oct 12, 2018 (152)
28 ILLUMINA ss3628759209 Oct 12, 2018 (152)
29 ILLUMINA ss3634913383 Oct 12, 2018 (152)
30 ILLUMINA ss3640620682 Oct 12, 2018 (152)
31 ILLUMINA ss3644826089 Oct 12, 2018 (152)
32 ILLUMINA ss3644826090 Oct 12, 2018 (152)
33 ILLUMINA ss3652757327 Oct 12, 2018 (152)
34 ILLUMINA ss3652757328 Oct 12, 2018 (152)
35 ILLUMINA ss3654036575 Oct 12, 2018 (152)
36 EGCUT_WGS ss3661001566 Jul 13, 2019 (153)
37 ILLUMINA ss3726050120 Jul 13, 2019 (153)
38 ACPOP ss3730286929 Jul 13, 2019 (153)
39 ILLUMINA ss3744221082 Jul 13, 2019 (153)
40 ILLUMINA ss3744514712 Jul 13, 2019 (153)
41 ILLUMINA ss3745213345 Jul 13, 2019 (153)
42 PAGE_CC ss3771058445 Jul 13, 2019 (153)
43 ILLUMINA ss3772708651 Jul 13, 2019 (153)
44 EVA ss3823945494 Apr 25, 2020 (154)
45 1000Genomes NC_000003.11 - 120400951 Oct 12, 2018 (152)
46 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 120400951 Oct 12, 2018 (152)
47 Genetic variation in the Estonian population NC_000003.11 - 120400951 Oct 12, 2018 (152)
48 ExAC NC_000003.11 - 120400951 Oct 12, 2018 (152)
49 gnomAD - Genomes NC_000003.11 - 120400951 Jul 13, 2019 (153)
50 gnomAD - Exomes NC_000003.11 - 120400951 Jul 13, 2019 (153)
51 GO Exome Sequencing Project NC_000003.11 - 120400951 Oct 12, 2018 (152)
52 Genome of the Netherlands Release 5 NC_000003.11 - 120400951 Apr 25, 2020 (154)
53 Northern Sweden NC_000003.11 - 120400951 Jul 13, 2019 (153)
54 The PAGE Study NC_000003.12 - 120682104 Jul 13, 2019 (153)
55 TopMed NC_000003.12 - 120682104 Oct 12, 2018 (152)
56 UK 10K study - Twins NC_000003.11 - 120400951 Oct 12, 2018 (152)
57 dbGaP Population Frequency Project NC_000003.12 - 120682104 Apr 25, 2020 (154)
58 ClinVar RCV000671567.1 Oct 12, 2018 (152)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
17113242, 9532839, 6739814, 7094564, 46818249, 3076286, 403799, 4188081, 3571794, 9532839, ss488765886, ss491344693, ss712547099, ss780820719, ss783503136, ss979084054, ss1305860538, ss1608059898, ss1651053931, ss1687158626, ss1752435084, ss1917771375, ss1946093460, ss1946093461, ss1958598428, ss1958598429, ss2422579863, ss2733990779, ss2747077689, ss2798282701, ss2985267502, ss2993074760, ss3022278803, ss3022278804, ss3625824242, ss3628759209, ss3634913383, ss3640620682, ss3644826089, ss3644826090, ss3652757327, ss3652757328, ss3654036575, ss3661001566, ss3730286929, ss3744221082, ss3744514712, ss3745213345, ss3772708651, ss3823945494 NC_000003.11:120400950:T:G NC_000003.12:120682103:T:G (self)
RCV000671567.1, 279914, 261525907, 458480753, ss2255255482, ss3403604753, ss3726050120, ss3771058445 NC_000003.12:120682103:T:G NC_000003.12:120682103:T:G (self)
Help

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

No publications for rs200412910

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.post557+f76c771