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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.

rs4986

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:70706327 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.020753 (5493/264690, TOPMED)
T=0.004873 (1224/251202, GnomAD_exome)
T=0.002800 (616/220004, ALFA) (+ 11 more)
T=0.020150 (2826/140248, GnomAD)
T=0.006233 (754/120968, ExAC)
T=0.02963 (2332/78698, PAGE_STUDY)
T=0.02184 (284/13006, GO-ESP)
T=0.0251 (161/6404, 1000G_30x)
T=0.0236 (118/5008, 1000G)
T=0.002 (1/534, MGP)
T=0.005 (1/216, Qatari)
T=0.005 (1/208, HapMap)
C=0.5 (5/10, SGDP_PRJ)
T=0.5 (5/10, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADD2 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 236406 C=0.995850 T=0.004150
European Sub 194930 C=0.999892 T=0.000108
African Sub 13222 C=0.93360 T=0.06640
African Others Sub 462 C=0.922 T=0.078
African American Sub 12760 C=0.93401 T=0.06599
Asian Sub 6614 C=1.0000 T=0.0000
East Asian Sub 4754 C=1.0000 T=0.0000
Other Asian Sub 1860 C=1.0000 T=0.0000
Latin American 1 Sub 864 C=0.979 T=0.021
Latin American 2 Sub 1262 C=0.9984 T=0.0016
South Asian Sub 324 C=1.000 T=0.000
Other Sub 19190 C=0.99677 T=0.00323


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=0.979247 T=0.020753
gnomAD - Exomes Global Study-wide 251202 C=0.995127 T=0.004873
gnomAD - Exomes European Sub 135218 C=0.999815 T=0.000185
gnomAD - Exomes Asian Sub 48992 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34558 C=0.99725 T=0.00275
gnomAD - Exomes African Sub 16230 C=0.93284 T=0.06716
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=0.99990 T=0.00010
gnomAD - Exomes Other Sub 6132 C=0.9982 T=0.0018
Allele Frequency Aggregator Total Global 220004 C=0.997200 T=0.002800
Allele Frequency Aggregator European Sub 184796 C=0.999892 T=0.000108
Allele Frequency Aggregator Other Sub 17756 C=0.99735 T=0.00265
Allele Frequency Aggregator African Sub 8388 C=0.9369 T=0.0631
Allele Frequency Aggregator Asian Sub 6614 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1262 C=0.9984 T=0.0016
Allele Frequency Aggregator Latin American 1 Sub 864 C=0.979 T=0.021
Allele Frequency Aggregator South Asian Sub 324 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 140248 C=0.979850 T=0.020150
gnomAD - Genomes European Sub 75940 C=0.99982 T=0.00018
gnomAD - Genomes African Sub 42036 C=0.93529 T=0.06471
gnomAD - Genomes American Sub 13664 C=0.99495 T=0.00505
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9893 T=0.0107
ExAC Global Study-wide 120968 C=0.993767 T=0.006233
ExAC Europe Sub 73052 C=0.99986 T=0.00014
ExAC Asian Sub 25124 C=0.99992 T=0.00008
ExAC American Sub 11564 C=0.99775 T=0.00225
ExAC African Sub 10324 C=0.93123 T=0.06877
ExAC Other Sub 904 C=0.993 T=0.007
The PAGE Study Global Study-wide 78698 C=0.97037 T=0.02963
The PAGE Study AfricanAmerican Sub 32512 C=0.93891 T=0.06109
The PAGE Study Mexican Sub 10810 C=0.99676 T=0.00324
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9840 T=0.0160
The PAGE Study NativeHawaiian Sub 4534 C=0.9991 T=0.0009
The PAGE Study Cuban Sub 4230 C=0.9898 T=0.0102
The PAGE Study Dominican Sub 3828 C=0.9736 T=0.0264
The PAGE Study CentralAmerican Sub 2450 C=0.9910 T=0.0090
The PAGE Study SouthAmerican Sub 1982 C=0.9965 T=0.0035
The PAGE Study NativeAmerican Sub 1260 C=0.9944 T=0.0056
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 13006 C=0.97816 T=0.02184
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=0.9358 T=0.0642
1000Genomes_30x Global Study-wide 6404 C=0.9749 T=0.0251
1000Genomes_30x African Sub 1786 C=0.9132 T=0.0868
1000Genomes_30x Europe Sub 1266 C=0.9984 T=0.0016
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.996 T=0.004
1000Genomes Global Study-wide 5008 C=0.9764 T=0.0236
1000Genomes African Sub 1322 C=0.9130 T=0.0870
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9990 T=0.0010
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.997 T=0.003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 T=0.002
Qatari Global Study-wide 216 C=0.995 T=0.005
HapMap Global Study-wide 208 C=0.995 T=0.005
HapMap American Sub 120 C=1.000 T=0.000
HapMap Asian Sub 88 C=0.99 T=0.01
SGDP_PRJ Global Study-wide 10 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.p14 chr 2 NC_000002.12:g.70706327C>T
GRCh37.p13 chr 2 fix patch HG953_PATCH NW_004504299.1:g.272609C>T
ADD2 RefSeqGene NG_029481.2:g.66917G>A
GRCh37.p13 chr 2 NC_000002.11:g.70933459C>T
Gene: ADD2, adducin 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADD2 transcript variant 1 NM_001617.4:c.82G>A D [GAC] > N [AAC] Coding Sequence Variant
beta-adducin isoform a NP_001608.1:p.Asp28Asn D (Asp) > N (Asn) Missense Variant
ADD2 transcript variant 4 NM_017488.4:c.82G>A D [GAC] > N [AAC] Coding Sequence Variant
beta-adducin isoform e NP_059522.1:p.Asp28Asn D (Asp) > N (Asn) Missense Variant
ADD2 transcript variant 6 NM_001185055.2:c.130G>A D [GAC] > N [AAC] Coding Sequence Variant
beta-adducin isoform f NP_001171984.1:p.Asp44Asn D (Asp) > N (Asn) Missense Variant
ADD2 transcript variant 2 NM_017482.4:c.82G>A D [GAC] > N [AAC] Coding Sequence Variant
beta-adducin isoform b NP_059516.2:p.Asp28Asn D (Asp) > N (Asn) Missense Variant
ADD2 transcript variant 5 NM_001185054.2:c.82G>A D [GAC] > N [AAC] Coding Sequence Variant
beta-adducin isoform a NP_001171983.1:p.Asp28Asn D (Asp) > N (Asn) Missense Variant
ADD2 transcript variant X1 XM_011532502.3:c.82G>A D [GAC] > N [AAC] Coding Sequence Variant
beta-adducin isoform X1 XP_011530804.1:p.Asp28Asn D (Asp) > N (Asn) 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: T (allele ID: 708345 )
ClinVar Accession Disease Names Clinical Significance
RCV000965604.3 not 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 C= T
GRCh38.p14 chr 2 NC_000002.12:g.70706327= NC_000002.12:g.70706327C>T
GRCh37.p13 chr 2 fix patch HG953_PATCH NW_004504299.1:g.272609= NW_004504299.1:g.272609C>T
ADD2 RefSeqGene NG_029481.2:g.66917= NG_029481.2:g.66917G>A
ADD2 transcript variant 4 NM_017488.4:c.82= NM_017488.4:c.82G>A
ADD2 transcript variant 4 NM_017488.3:c.82= NM_017488.3:c.82G>A
ADD2 transcript variant 1 NM_001617.4:c.82= NM_001617.4:c.82G>A
ADD2 transcript variant 1 NM_001617.3:c.82= NM_001617.3:c.82G>A
ADD2 transcript variant 2 NM_017482.4:c.82= NM_017482.4:c.82G>A
ADD2 transcript variant 2 NM_017482.3:c.82= NM_017482.3:c.82G>A
ADD2 transcript variant 5 NM_001185054.2:c.82= NM_001185054.2:c.82G>A
ADD2 transcript variant 5 NM_001185054.1:c.82= NM_001185054.1:c.82G>A
ADD2 transcript variant 6 NM_001185055.2:c.130= NM_001185055.2:c.130G>A
ADD2 transcript variant 6 NM_001185055.1:c.130= NM_001185055.1:c.130G>A
GRCh37.p13 chr 2 NC_000002.11:g.70933459= NC_000002.11:g.70933459C>T
ADD2 transcript variant X1 XM_011532502.3:c.82= XM_011532502.3:c.82G>A
ADD2 transcript variant X1 XM_011532502.2:c.82= XM_011532502.2:c.82G>A
ADD2 transcript variant X1 XM_011532502.1:c.82= XM_011532502.1:c.82G>A
ADD2 transcript variant beta-3a NM_017483.2:c.82= NM_017483.2:c.82G>A
ADD2 transcript variant beta-3b NM_017484.2:c.82= NM_017484.2:c.82G>A
ADD2 transcript variant beta-5a NM_017485.1:c.82= NM_017485.1:c.82G>A
ADD2 transcript variant beta-3a NM_017483.1:c.82= NM_017483.1:c.82G>A
ADD2 transcript variant beta-6a NM_017486.1:c.82= NM_017486.1:c.82G>A
ADD2 transcript variant beta-3b NM_017484.1:c.82= NM_017484.1:c.82G>A
ADD2 transcript variant beta-6b NM_017487.1:c.82= NM_017487.1:c.82G>A
beta-adducin isoform e NP_059522.1:p.Asp28= NP_059522.1:p.Asp28Asn
beta-adducin isoform a NP_001608.1:p.Asp28= NP_001608.1:p.Asp28Asn
beta-adducin isoform b NP_059516.2:p.Asp28= NP_059516.2:p.Asp28Asn
beta-adducin isoform a NP_001171983.1:p.Asp28= NP_001171983.1:p.Asp28Asn
beta-adducin isoform f NP_001171984.1:p.Asp44= NP_001171984.1:p.Asp44Asn
beta-adducin isoform X1 XP_011530804.1:p.Asp28= XP_011530804.1:p.Asp28Asn
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#.

70 SubSNP, 13 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ARAVINDA ss6425 Sep 19, 2000 (52)
2 APPLERA_GI ss48404902 Mar 14, 2006 (126)
3 KRIBB_YJKIM ss104796552 Feb 06, 2009 (130)
4 SEATTLESEQ ss159702112 Dec 01, 2009 (131)
5 ILLUMINA ss160735678 Dec 01, 2009 (131)
6 1000GENOMES ss210925129 Jul 14, 2010 (132)
7 1000GENOMES ss217409230 Jul 14, 2010 (132)
8 1000GENOMES ss217414081 Jul 14, 2010 (132)
9 1000GENOMES ss219316723 Jul 14, 2010 (132)
10 NHLBI-ESP ss342064098 May 09, 2011 (134)
11 ILLUMINA ss480596912 May 04, 2012 (137)
12 ILLUMINA ss482136707 Sep 11, 2015 (146)
13 ILLUMINA ss484127041 May 04, 2012 (137)
14 1000GENOMES ss489819857 May 04, 2012 (137)
15 EXOME_CHIP ss491319945 May 04, 2012 (137)
16 ILLUMINA ss533834763 Sep 11, 2015 (146)
17 TISHKOFF ss555649307 Apr 25, 2013 (138)
18 ILLUMINA ss779214363 Sep 11, 2015 (146)
19 ILLUMINA ss780779871 Sep 11, 2015 (146)
20 ILLUMINA ss781270534 Sep 11, 2015 (146)
21 ILLUMINA ss783460072 Sep 11, 2015 (146)
22 ILLUMINA ss834680233 Sep 11, 2015 (146)
23 JMKIDD_LAB ss1067438024 Aug 21, 2014 (142)
24 1000GENOMES ss1297767942 Aug 21, 2014 (142)
25 EVA_EXAC ss1686347929 Apr 09, 2015 (144)
26 EVA_MGP ss1710966119 Apr 09, 2015 (144)
27 ILLUMINA ss1752367583 Sep 11, 2015 (146)
28 HAMMER_LAB ss1796930200 Sep 11, 2015 (146)
29 ILLUMINA ss1917750160 Feb 17, 2016 (147)
30 WEILL_CORNELL_DGM ss1920200261 Feb 17, 2016 (147)
31 ILLUMINA ss1946043375 Feb 17, 2016 (147)
32 ILLUMINA ss1958428039 Feb 17, 2016 (147)
33 HUMAN_LONGEVITY ss2231414163 Dec 20, 2016 (150)
34 ILLUMINA ss2633631263 Oct 11, 2018 (152)
35 GNOMAD ss2732727762 Oct 11, 2018 (152)
36 GNOMAD ss2746698794 Oct 11, 2018 (152)
37 GNOMAD ss2774992456 Oct 11, 2018 (152)
38 AFFY ss2985175789 Oct 11, 2018 (152)
39 ILLUMINA ss3021982403 Oct 11, 2018 (152)
40 ILLUMINA ss3628092142 Oct 11, 2018 (152)
41 ILLUMINA ss3628092143 Oct 11, 2018 (152)
42 ILLUMINA ss3631597220 Oct 11, 2018 (152)
43 ILLUMINA ss3634772142 Oct 11, 2018 (152)
44 ILLUMINA ss3636459257 Oct 11, 2018 (152)
45 ILLUMINA ss3640479444 Oct 11, 2018 (152)
46 ILLUMINA ss3644746123 Oct 11, 2018 (152)
47 ILLUMINA ss3652417536 Oct 11, 2018 (152)
48 ILLUMINA ss3653941947 Oct 11, 2018 (152)
49 EVA_DECODE ss3704147837 Jul 13, 2019 (153)
50 ILLUMINA ss3725795661 Jul 13, 2019 (153)
51 ILLUMINA ss3744476229 Jul 13, 2019 (153)
52 ILLUMINA ss3745072056 Jul 13, 2019 (153)
53 PAGE_CC ss3770927615 Jul 13, 2019 (153)
54 ILLUMINA ss3772568849 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3801287248 Jul 13, 2019 (153)
56 EVA ss3823777837 Apr 25, 2020 (154)
57 EVA ss3825602464 Apr 25, 2020 (154)
58 SGDP_PRJ ss3852534416 Apr 25, 2020 (154)
59 EVA ss3986184256 Apr 26, 2021 (155)
60 GNOMAD ss4043603197 Apr 26, 2021 (155)
61 TOPMED ss4510402652 Apr 26, 2021 (155)
62 1000G_HIGH_COVERAGE ss5248513815 Oct 12, 2022 (156)
63 EVA ss5329765582 Oct 12, 2022 (156)
64 HUGCELL_USP ss5448675121 Oct 12, 2022 (156)
65 1000G_HIGH_COVERAGE ss5523972367 Oct 12, 2022 (156)
66 SANFORD_IMAGENETICS ss5628995621 Oct 12, 2022 (156)
67 EVA ss5820272949 Oct 12, 2022 (156)
68 EVA ss5847871762 Oct 12, 2022 (156)
69 EVA ss5930892517 Oct 12, 2022 (156)
70 EVA ss5955241736 Oct 12, 2022 (156)
71 1000Genomes NC_000002.11 - 70933459 Oct 11, 2018 (152)
72 1000Genomes_30x NC_000002.12 - 70706327 Oct 12, 2022 (156)
73 ExAC NC_000002.11 - 70933459 Oct 11, 2018 (152)
74 gnomAD - Genomes NC_000002.12 - 70706327 Apr 26, 2021 (155)
75 gnomAD - Exomes NC_000002.11 - 70933459 Jul 13, 2019 (153)
76 GO Exome Sequencing Project NC_000002.11 - 70933459 Oct 11, 2018 (152)
77 HapMap NC_000002.12 - 70706327 Apr 25, 2020 (154)
78 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 70933459 Apr 25, 2020 (154)
79 The PAGE Study NC_000002.12 - 70706327 Jul 13, 2019 (153)
80 Qatari NC_000002.11 - 70933459 Apr 25, 2020 (154)
81 SGDP_PRJ NC_000002.11 - 70933459 Apr 25, 2020 (154)
82 TopMed NC_000002.12 - 70706327 Apr 26, 2021 (155)
83 ALFA NC_000002.12 - 70706327 Apr 26, 2021 (155)
84 ClinVar RCV000965604.3 Oct 12, 2022 (156)
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
ss210925129, ss217409230, ss217414081, ss484127041 NC_000002.10:70786966:C:T NC_000002.12:70706326:C:T (self)
8730431, 6221854, 1779762, 236297, 82871, 2242191, 4551396, ss219316723, ss342064098, ss480596912, ss482136707, ss489819857, ss491319945, ss533834763, ss555649307, ss779214363, ss780779871, ss781270534, ss783460072, ss834680233, ss1067438024, ss1297767942, ss1686347929, ss1710966119, ss1752367583, ss1796930200, ss1917750160, ss1920200261, ss1946043375, ss1958428039, ss2633631263, ss2732727762, ss2746698794, ss2774992456, ss2985175789, ss3021982403, ss3628092142, ss3628092143, ss3631597220, ss3634772142, ss3636459257, ss3640479444, ss3644746123, ss3652417536, ss3653941947, ss3744476229, ss3745072056, ss3772568849, ss3823777837, ss3825602464, ss3852534416, ss3986184256, ss5329765582, ss5628995621, ss5820272949, ss5847871762, ss5955241736 NC_000002.11:70933458:C:T NC_000002.12:70706326:C:T (self)
RCV000965604.3, 11498302, 61999135, 1824696, 149084, 314225531, 10182769836, ss2231414163, ss3704147837, ss3725795661, ss3770927615, ss3801287248, ss4043603197, ss4510402652, ss5248513815, ss5448675121, ss5523972367, ss5930892517 NC_000002.12:70706326:C:T NC_000002.12:70706326:C:T (self)
ss6425, ss48404902, ss104796552, ss159702112, ss160735678 NT_022184.15:49755345:C:T NC_000002.12:70706326: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 rs4986

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