Skip to main page content
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.

rs705703

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr12:55997702 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.019332 (5117/264690, TOPMED)
T=0.026485 (3960/149520, ALFA)
T=0.019287 (2704/140196, GnomAD) (+ 12 more)
T=0.0110 (55/5008, 1000G)
T=0.0275 (123/4480, Estonian)
T=0.0363 (140/3854, ALSPAC)
T=0.0316 (117/3708, TWINSUK)
T=0.025 (25/998, GoNL)
T=0.016 (15/966, HapMap)
T=0.053 (32/600, NorthernSweden)
T=0.03 (1/40, GENOME_DK)
C=0.50 (6/12, SGDP_PRJ)
T=0.50 (6/12, SGDP_PRJ)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SUOX : Intron Variant
Publications
0 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 149520 C=0.973515 T=0.026485
European Sub 128704 C=0.971656 T=0.028344
African Sub 6678 C=0.9943 T=0.0057
African Others Sub 242 C=0.996 T=0.004
African American Sub 6436 C=0.9943 T=0.0057
Asian Sub 630 C=1.000 T=0.000
East Asian Sub 498 C=1.000 T=0.000
Other Asian Sub 132 C=1.000 T=0.000
Latin American 1 Sub 752 C=0.972 T=0.028
Latin American 2 Sub 6330 C=0.9855 T=0.0145
South Asian Sub 184 C=0.995 T=0.005
Other Sub 6242 C=0.9744 T=0.0256


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 C=0.980668 T=0.019332
Allele Frequency Aggregator Total Global 149520 C=0.973515 T=0.026485
Allele Frequency Aggregator European Sub 128704 C=0.971656 T=0.028344
Allele Frequency Aggregator African Sub 6678 C=0.9943 T=0.0057
Allele Frequency Aggregator Latin American 2 Sub 6330 C=0.9855 T=0.0145
Allele Frequency Aggregator Other Sub 6242 C=0.9744 T=0.0256
Allele Frequency Aggregator Latin American 1 Sub 752 C=0.972 T=0.028
Allele Frequency Aggregator Asian Sub 630 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 184 C=0.995 T=0.005
gnomAD - Genomes Global Study-wide 140196 C=0.980713 T=0.019287
gnomAD - Genomes European Sub 75936 C=0.97192 T=0.02808
gnomAD - Genomes African Sub 42014 C=0.99474 T=0.00526
gnomAD - Genomes American Sub 13640 C=0.98072 T=0.01928
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9831 T=0.0169
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9851 T=0.0149
1000Genomes Global Study-wide 5008 C=0.9890 T=0.0110
1000Genomes African Sub 1322 C=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 C=0.9990 T=0.0010
1000Genomes Europe Sub 1006 C=0.9652 T=0.0348
1000Genomes South Asian Sub 978 C=0.992 T=0.008
1000Genomes American Sub 694 C=0.986 T=0.014
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9725 T=0.0275
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9637 T=0.0363
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9684 T=0.0316
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.975 T=0.025
HapMap Global Study-wide 966 C=0.984 T=0.016
HapMap American Sub 500 C=0.984 T=0.016
HapMap Europe Sub 176 C=0.966 T=0.034
HapMap Asian Sub 170 C=0.994 T=0.006
HapMap African Sub 120 C=1.000 T=0.000
Northern Sweden ACPOP Study-wide 600 C=0.947 T=0.053
The Danish reference pan genome Danish Study-wide 40 C=0.97 T=0.03
SGDP_PRJ Global Study-wide 12 C=0.50 T=0.50
Siberian Global Study-wide 6 C=0.5 T=0.5
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 12 NC_000012.12:g.55997702C>T
GRCh37.p13 chr 12 NC_000012.11:g.56391486C>T
SUOX RefSeqGene NG_008136.1:g.5444C>T
Gene: SUOX, sulfite oxidase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SUOX transcript variant 3 NM_001032387.2:c.-11+363C…

NM_001032387.2:c.-11+363C>T

N/A Intron Variant
SUOX transcript variant 2 NM_001032386.2:c.-32= N/A 5 Prime UTR Variant
SUOX transcript variant 1 NM_000456.3:c.-158= N/A 5 Prime UTR Variant
SUOX transcript variant X1 XM_017019905.2:c.-200= N/A 5 Prime UTR Variant
SUOX transcript variant X2 XM_024449167.1:c.-74= N/A 5 Prime UTR Variant
SUOX transcript variant X4 XM_017019907.2:c.-290= N/A 5 Prime UTR Variant
SUOX transcript variant X3 XM_017019906.1:c. N/A Genic Upstream Transcript Variant
SUOX transcript variant X5 XM_017019908.1:c. N/A Genic Upstream Transcript 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: T (allele ID: 318043 )
ClinVar Accession Disease Names Clinical Significance
RCV000321062.2 Isolated sulfite oxidase deficiency 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 C= T
GRCh38.p13 chr 12 NC_000012.12:g.55997702= NC_000012.12:g.55997702C>T
GRCh37.p13 chr 12 NC_000012.11:g.56391486= NC_000012.11:g.56391486C>T
SUOX RefSeqGene NG_008136.1:g.5444= NG_008136.1:g.5444C>T
SUOX transcript variant 1 NM_000456.3:c.-158= NM_000456.3:c.-158C>T
SUOX transcript variant 1 NM_000456.2:c.-158= NM_000456.2:c.-158C>T
SUOX transcript variant 2 NM_001032386.2:c.-32= NM_001032386.2:c.-32C>T
SUOX transcript variant 2 NM_001032386.1:c.-32= NM_001032386.1:c.-32C>T
SUOX transcript variant X4 XM_017019907.2:c.-290= XM_017019907.2:c.-290C>T
SUOX transcript variant X1 XM_017019905.2:c.-200= XM_017019905.2:c.-200C>T
SUOX transcript variant X2 XM_024449167.1:c.-74= XM_024449167.1:c.-74C>T
SUOX transcript variant 3 NM_001032387.1:c.-11+363= NM_001032387.1:c.-11+363C>T
SUOX transcript variant 3 NM_001032387.2:c.-11+363= NM_001032387.2:c.-11+363C>T
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#.

65 SubSNP, 13 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss886749 Oct 04, 2000 (86)
2 KWOK ss888180 Oct 04, 2000 (86)
3 KWOK ss1984671 Oct 18, 2000 (87)
4 KWOK ss1984874 Oct 18, 2000 (87)
5 SC_JCM ss2520200 Nov 08, 2000 (89)
6 ABI ss38885932 Mar 14, 2006 (126)
7 ILLUMINA ss75063542 Dec 07, 2007 (129)
8 KRIBB_YJKIM ss119363698 Dec 01, 2009 (131)
9 WTCCC ss120255884 Dec 01, 2009 (131)
10 ILLUMINA ss160841782 Dec 01, 2009 (131)
11 ILLUMINA ss174222669 Jul 04, 2010 (132)
12 1000GENOMES ss235945912 Jul 15, 2010 (132)
13 ILLUMINA ss481447233 May 04, 2012 (137)
14 ILLUMINA ss481474897 May 04, 2012 (137)
15 ILLUMINA ss482454804 Sep 08, 2015 (146)
16 ILLUMINA ss485518750 May 04, 2012 (137)
17 ILLUMINA ss537428174 Sep 08, 2015 (146)
18 ILLUMINA ss778590479 Sep 08, 2015 (146)
19 ILLUMINA ss783204900 Sep 08, 2015 (146)
20 ILLUMINA ss784159751 Sep 08, 2015 (146)
21 ILLUMINA ss832464933 Sep 08, 2015 (146)
22 ILLUMINA ss834047666 Sep 08, 2015 (146)
23 EVA-GONL ss989564117 Aug 21, 2014 (142)
24 1000GENOMES ss1345139500 Aug 21, 2014 (142)
25 EVA_GENOME_DK ss1576301269 Apr 01, 2015 (144)
26 EVA_DECODE ss1599237301 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1628652648 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1671646681 Apr 01, 2015 (144)
29 ILLUMINA ss1752073719 Sep 08, 2015 (146)
30 JJLAB ss2027215088 Sep 14, 2016 (149)
31 ILLUMINA ss2094873930 Dec 20, 2016 (150)
32 ILLUMINA ss2095035176 Dec 20, 2016 (150)
33 USC_VALOUEV ss2155555521 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2190037411 Dec 20, 2016 (150)
35 TOPMED ss2353983075 Dec 20, 2016 (150)
36 ILLUMINA ss2632963235 Nov 08, 2017 (151)
37 GNOMAD ss2910860328 Nov 08, 2017 (151)
38 AFFY ss2984977282 Nov 08, 2017 (151)
39 SWEGEN ss3009740818 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3027416482 Nov 08, 2017 (151)
41 TOPMED ss3171714578 Nov 08, 2017 (151)
42 CSHL ss3350078645 Nov 08, 2017 (151)
43 ILLUMINA ss3625623964 Oct 12, 2018 (152)
44 ILLUMINA ss3626885547 Oct 12, 2018 (152)
45 ILLUMINA ss3630972200 Oct 12, 2018 (152)
46 ILLUMINA ss3633021502 Oct 12, 2018 (152)
47 ILLUMINA ss3633722530 Oct 12, 2018 (152)
48 ILLUMINA ss3634506814 Oct 12, 2018 (152)
49 ILLUMINA ss3635413269 Oct 12, 2018 (152)
50 ILLUMINA ss3636191704 Oct 12, 2018 (152)
51 ILLUMINA ss3637164258 Oct 12, 2018 (152)
52 ILLUMINA ss3637965250 Oct 12, 2018 (152)
53 ILLUMINA ss3640214148 Oct 12, 2018 (152)
54 ILLUMINA ss3642958686 Oct 12, 2018 (152)
55 ILLUMINA ss3651812074 Oct 12, 2018 (152)
56 EGCUT_WGS ss3677009989 Jul 13, 2019 (153)
57 EVA_DECODE ss3693731347 Jul 13, 2019 (153)
58 ACPOP ss3739049089 Jul 13, 2019 (153)
59 ILLUMINA ss3744807488 Jul 13, 2019 (153)
60 EVA ss3750516750 Jul 13, 2019 (153)
61 ILLUMINA ss3772306935 Jul 13, 2019 (153)
62 EVA ss3833138986 Apr 27, 2020 (154)
63 SGDP_PRJ ss3878339006 Apr 27, 2020 (154)
64 EVA ss4017590614 Apr 26, 2021 (155)
65 TOPMED ss4919374501 Apr 26, 2021 (155)
66 1000Genomes NC_000012.11 - 56391486 Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 56391486 Oct 12, 2018 (152)
68 Genetic variation in the Estonian population NC_000012.11 - 56391486 Oct 12, 2018 (152)
69 The Danish reference pan genome NC_000012.11 - 56391486 Apr 27, 2020 (154)
70 gnomAD - Genomes NC_000012.12 - 55997702 Apr 26, 2021 (155)
71 Genome of the Netherlands Release 5 NC_000012.11 - 56391486 Apr 27, 2020 (154)
72 HapMap NC_000012.12 - 55997702 Apr 27, 2020 (154)
73 Northern Sweden NC_000012.11 - 56391486 Jul 13, 2019 (153)
74 SGDP_PRJ NC_000012.11 - 56391486 Apr 27, 2020 (154)
75 Siberian NC_000012.11 - 56391486 Apr 27, 2020 (154)
76 TopMed NC_000012.12 - 55997702 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000012.11 - 56391486 Oct 12, 2018 (152)
78 ALFA NC_000012.12 - 55997702 Apr 26, 2021 (155)
79 ClinVar RCV000321062.2 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss481447233, ss1599237301, ss2094873930, ss3642958686 NC_000012.10:54677752:C:T NC_000012.12:55997701:C:T (self)
57892675, 32143221, 22748237, 2975289, 14342773, 12333954, 30355986, 8071875, 32143221, ss235945912, ss481474897, ss482454804, ss485518750, ss537428174, ss778590479, ss783204900, ss784159751, ss832464933, ss834047666, ss989564117, ss1345139500, ss1576301269, ss1628652648, ss1671646681, ss1752073719, ss2027215088, ss2095035176, ss2155555521, ss2353983075, ss2632963235, ss2910860328, ss2984977282, ss3009740818, ss3350078645, ss3625623964, ss3626885547, ss3630972200, ss3633021502, ss3633722530, ss3634506814, ss3635413269, ss3636191704, ss3637164258, ss3637965250, ss3640214148, ss3651812074, ss3677009989, ss3739049089, ss3744807488, ss3750516750, ss3772306935, ss3833138986, ss3878339006, ss4017590614 NC_000012.11:56391485:C:T NC_000012.12:55997701:C:T (self)
RCV000321062.2, 408247520, 822332, 84455485, 134920158, 12323160063, ss2190037411, ss3027416482, ss3171714578, ss3693731347, ss4919374501 NC_000012.12:55997701:C:T NC_000012.12:55997701:C:T (self)
ss886749, ss888180, ss1984671, ss1984874, ss2520200, ss38885932, ss75063542, ss119363698, ss120255884, ss160841782, ss174222669 NT_029419.12:18534791:C:T NC_000012.12:55997701:C:T (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 rs705703

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