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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.

rs6705304

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:43369607 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.100706 (26656/264690, TOPMED)
G=0.109692 (15374/140156, GnomAD)
G=0.09542 (2923/30634, ALFA) (+ 17 more)
G=0.01387 (392/28258, 14KJPN)
G=0.01331 (223/16760, 8.3KJPN)
G=0.1027 (658/6404, 1000G_30x)
G=0.1044 (523/5008, 1000G)
G=0.0931 (417/4480, Estonian)
G=0.0942 (363/3854, ALSPAC)
G=0.0976 (362/3708, TWINSUK)
G=0.0092 (27/2922, KOREAN)
G=0.120 (120/998, GoNL)
G=0.117 (70/600, NorthernSweden)
G=0.085 (28/328, HapMap)
G=0.102 (22/216, Qatari)
T=0.472 (50/106, SGDP_PRJ)
G=0.00 (0/44, Ancient Sardinia)
G=0.05 (2/40, GENOME_DK)
T=0.5 (5/10, Siberian)
G=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
THADA : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 30634 T=0.90458 G=0.09542 0.818502 0.009336 0.172162 0
European Sub 24580 T=0.90826 G=0.09174 0.824654 0.008137 0.167209 0
African Sub 3138 T=0.8585 G=0.1415 0.736775 0.019758 0.243467 0
African Others Sub 124 T=0.839 G=0.161 0.709677 0.032258 0.258065 0
African American Sub 3014 T=0.8593 G=0.1407 0.73789 0.019244 0.242867 0
Asian Sub 126 T=0.992 G=0.008 0.984127 0.0 0.015873 0
East Asian Sub 98 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 28 T=0.96 G=0.04 0.928571 0.0 0.071429 0
Latin American 1 Sub 164 T=0.896 G=0.104 0.817073 0.02439 0.158537 1
Latin American 2 Sub 684 T=0.947 G=0.053 0.897661 0.002924 0.099415 0
South Asian Sub 114 T=0.781 G=0.219 0.631579 0.070175 0.298246 1
Other Sub 1828 T=0.9207 G=0.0793 0.846827 0.00547 0.147702 0


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 T=0.899294 G=0.100706
gnomAD - Genomes Global Study-wide 140156 T=0.890308 G=0.109692
gnomAD - Genomes European Sub 75894 T=0.89493 G=0.10507
gnomAD - Genomes African Sub 42000 T=0.85562 G=0.14438
gnomAD - Genomes American Sub 13658 T=0.93733 G=0.06267
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.9181 G=0.0819
gnomAD - Genomes East Asian Sub 3134 T=0.9955 G=0.0045
gnomAD - Genomes Other Sub 2150 T=0.9098 G=0.0902
Allele Frequency Aggregator Total Global 30634 T=0.90458 G=0.09542
Allele Frequency Aggregator European Sub 24580 T=0.90826 G=0.09174
Allele Frequency Aggregator African Sub 3138 T=0.8585 G=0.1415
Allele Frequency Aggregator Other Sub 1828 T=0.9207 G=0.0793
Allele Frequency Aggregator Latin American 2 Sub 684 T=0.947 G=0.053
Allele Frequency Aggregator Latin American 1 Sub 164 T=0.896 G=0.104
Allele Frequency Aggregator Asian Sub 126 T=0.992 G=0.008
Allele Frequency Aggregator South Asian Sub 114 T=0.781 G=0.219
14KJPN JAPANESE Study-wide 28258 T=0.98613 G=0.01387
8.3KJPN JAPANESE Study-wide 16760 T=0.98669 G=0.01331
1000Genomes_30x Global Study-wide 6404 T=0.8973 G=0.1027
1000Genomes_30x African Sub 1786 T=0.8455 G=0.1545
1000Genomes_30x Europe Sub 1266 T=0.9123 G=0.0877
1000Genomes_30x South Asian Sub 1202 T=0.8145 G=0.1855
1000Genomes_30x East Asian Sub 1170 T=0.9923 G=0.0077
1000Genomes_30x American Sub 980 T=0.960 G=0.040
1000Genomes Global Study-wide 5008 T=0.8956 G=0.1044
1000Genomes African Sub 1322 T=0.8359 G=0.1641
1000Genomes East Asian Sub 1008 T=0.9931 G=0.0069
1000Genomes Europe Sub 1006 T=0.9115 G=0.0885
1000Genomes South Asian Sub 978 T=0.815 G=0.185
1000Genomes American Sub 694 T=0.958 G=0.042
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9069 G=0.0931
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9058 G=0.0942
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9024 G=0.0976
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9908 G=0.0092
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.880 G=0.120
Northern Sweden ACPOP Study-wide 600 T=0.883 G=0.117
HapMap Global Study-wide 328 T=0.915 G=0.085
HapMap African Sub 120 T=0.842 G=0.158
HapMap American Sub 120 T=0.933 G=0.067
HapMap Asian Sub 88 T=0.99 G=0.01
Qatari Global Study-wide 216 T=0.898 G=0.102
SGDP_PRJ Global Study-wide 106 T=0.472 G=0.528
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 44 T=1.00 G=0.00
The Danish reference pan genome Danish Study-wide 40 T=0.95 G=0.05
Siberian Global Study-wide 10 T=0.5 G=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.43369607T>G
GRCh37.p13 chr 2 NC_000002.11:g.43596746T>G
THADA RefSeqGene NG_051580.1:g.231440A>C
Gene: THADA, THADA armadillo repeat containing (minus strand)
Molecule type Change Amino acid[Codon] SO Term
THADA transcript variant 3 NM_001083953.2:c.4228-253…

NM_001083953.2:c.4228-25370A>C

N/A Intron Variant
THADA transcript variant 6 NM_001345923.2:c.4225-253…

NM_001345923.2:c.4225-25370A>C

N/A Intron Variant
THADA transcript variant 7 NM_001345924.2:c.4105-253…

NM_001345924.2:c.4105-25370A>C

N/A Intron Variant
THADA transcript variant 8 NM_001345925.2:c.4228-253…

NM_001345925.2:c.4228-25370A>C

N/A Intron Variant
THADA transcript variant 1 NM_022065.5:c.4228-25370A…

NM_022065.5:c.4228-25370A>C

N/A Intron Variant
THADA transcript variant 4 NM_001271643.2:c. N/A Genic Downstream Transcript Variant
THADA transcript variant 5 NM_001271644.2:c. N/A Genic Downstream Transcript Variant
THADA transcript variant 2 NR_073394.2:n. N/A Intron Variant
THADA transcript variant 9 NR_144316.2:n. N/A Intron 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

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.p14 chr 2 NC_000002.12:g.43369607= NC_000002.12:g.43369607T>G
GRCh37.p13 chr 2 NC_000002.11:g.43596746= NC_000002.11:g.43596746T>G
THADA RefSeqGene NG_051580.1:g.231440= NG_051580.1:g.231440A>C
THADA transcript variant 3 NM_001083953.1:c.4228-25370= NM_001083953.1:c.4228-25370A>C
THADA transcript variant 3 NM_001083953.2:c.4228-25370= NM_001083953.2:c.4228-25370A>C
THADA transcript variant 6 NM_001345923.2:c.4225-25370= NM_001345923.2:c.4225-25370A>C
THADA transcript variant 7 NM_001345924.2:c.4105-25370= NM_001345924.2:c.4105-25370A>C
THADA transcript variant 8 NM_001345925.2:c.4228-25370= NM_001345925.2:c.4228-25370A>C
THADA transcript variant 1 NM_022065.4:c.4228-25370= NM_022065.4:c.4228-25370A>C
THADA transcript variant 1 NM_022065.5:c.4228-25370= NM_022065.5:c.4228-25370A>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#.

64 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9908127 Jul 11, 2003 (116)
2 PERLEGEN ss23699515 Sep 20, 2004 (123)
3 BCMHGSC_JDW ss91140615 Mar 24, 2008 (129)
4 ENSEMBL ss138433176 Dec 01, 2009 (131)
5 BUSHMAN ss200355508 Jul 04, 2010 (132)
6 1000GENOMES ss210879917 Jul 14, 2010 (132)
7 1000GENOMES ss219207122 Jul 14, 2010 (132)
8 1000GENOMES ss231139250 Jul 14, 2010 (132)
9 1000GENOMES ss238700839 Jul 15, 2010 (132)
10 PJP ss292557483 May 09, 2011 (134)
11 ILLUMINA ss410836412 Sep 17, 2011 (135)
12 ILLUMINA ss484084500 May 04, 2012 (137)
13 ILLUMINA ss484358885 May 04, 2012 (137)
14 ILLUMINA ss536541348 Sep 08, 2015 (146)
15 TISHKOFF ss555516789 Apr 25, 2013 (138)
16 SSMP ss649101595 Apr 25, 2013 (138)
17 ILLUMINA ss780623791 Sep 08, 2015 (146)
18 ILLUMINA ss782625672 Sep 08, 2015 (146)
19 ILLUMINA ss836117457 Sep 08, 2015 (146)
20 EVA-GONL ss976750588 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1069055309 Aug 21, 2014 (142)
22 1000GENOMES ss1296915947 Aug 21, 2014 (142)
23 EVA_GENOME_DK ss1578846840 Apr 01, 2015 (144)
24 EVA_DECODE ss1586159070 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1603343782 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1646337815 Apr 01, 2015 (144)
27 HAMMER_LAB ss1796656537 Sep 08, 2015 (146)
28 WEILL_CORNELL_DGM ss1919985877 Feb 12, 2016 (147)
29 JJLAB ss2020525535 Sep 14, 2016 (149)
30 ILLUMINA ss2094901148 Dec 20, 2016 (150)
31 ILLUMINA ss2095090171 Dec 20, 2016 (150)
32 USC_VALOUEV ss2148569657 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2229606791 Dec 20, 2016 (150)
34 ILLUMINA ss2633604254 Nov 08, 2017 (151)
35 GRF ss2703134935 Nov 08, 2017 (151)
36 GNOMAD ss2772563182 Nov 08, 2017 (151)
37 SWEGEN ss2989381313 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3024028335 Nov 08, 2017 (151)
39 CSHL ss3344193321 Nov 08, 2017 (151)
40 ILLUMINA ss3628047212 Oct 11, 2018 (152)
41 ILLUMINA ss3631571905 Oct 11, 2018 (152)
42 ILLUMINA ss3642091200 Oct 11, 2018 (152)
43 ILLUMINA ss3652395208 Oct 11, 2018 (152)
44 EGCUT_WGS ss3657344074 Jul 13, 2019 (153)
45 EVA_DECODE ss3703738827 Jul 13, 2019 (153)
46 ACPOP ss3728369161 Jul 13, 2019 (153)
47 EVA ss3756662955 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3801038608 Jul 13, 2019 (153)
49 SGDP_PRJ ss3852108353 Apr 25, 2020 (154)
50 KRGDB ss3897554437 Apr 25, 2020 (154)
51 EVA ss3984888536 Apr 26, 2021 (155)
52 TOPMED ss4502848119 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5151000098 Apr 26, 2021 (155)
54 1000G_HIGH_COVERAGE ss5247785456 Oct 12, 2022 (156)
55 EVA ss5328417744 Oct 12, 2022 (156)
56 HUGCELL_USP ss5448013007 Oct 12, 2022 (156)
57 EVA ss5506378812 Oct 12, 2022 (156)
58 1000G_HIGH_COVERAGE ss5522852654 Oct 12, 2022 (156)
59 SANFORD_IMAGENETICS ss5628587705 Oct 12, 2022 (156)
60 TOMMO_GENOMICS ss5679519943 Oct 12, 2022 (156)
61 YY_MCH ss5802138722 Oct 12, 2022 (156)
62 EVA ss5819992414 Oct 12, 2022 (156)
63 EVA ss5930039242 Oct 12, 2022 (156)
64 EVA ss5954804640 Oct 12, 2022 (156)
65 1000Genomes NC_000002.11 - 43596746 Oct 11, 2018 (152)
66 1000Genomes_30x NC_000002.12 - 43369607 Oct 12, 2022 (156)
67 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 43596746 Oct 11, 2018 (152)
68 Genetic variation in the Estonian population NC_000002.11 - 43596746 Oct 11, 2018 (152)
69 The Danish reference pan genome NC_000002.11 - 43596746 Apr 25, 2020 (154)
70 gnomAD - Genomes NC_000002.12 - 43369607 Apr 26, 2021 (155)
71 Genome of the Netherlands Release 5 NC_000002.11 - 43596746 Apr 25, 2020 (154)
72 HapMap NC_000002.12 - 43369607 Apr 25, 2020 (154)
73 KOREAN population from KRGDB NC_000002.11 - 43596746 Apr 25, 2020 (154)
74 Northern Sweden NC_000002.11 - 43596746 Jul 13, 2019 (153)
75 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 43596746 Apr 26, 2021 (155)
76 Qatari NC_000002.11 - 43596746 Apr 25, 2020 (154)
77 SGDP_PRJ NC_000002.11 - 43596746 Apr 25, 2020 (154)
78 Siberian NC_000002.11 - 43596746 Apr 25, 2020 (154)
79 8.3KJPN NC_000002.11 - 43596746 Apr 26, 2021 (155)
80 14KJPN NC_000002.12 - 43369607 Oct 12, 2022 (156)
81 TopMed NC_000002.12 - 43369607 Apr 26, 2021 (155)
82 UK 10K study - Twins NC_000002.11 - 43596746 Oct 11, 2018 (152)
83 ALFA NC_000002.12 - 43369607 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
ss91140615, ss200355508, ss210879917, ss292557483, ss484084500, ss1586159070, ss2094901148 NC_000002.10:43450249:T:G NC_000002.12:43369606:T:G (self)
7850908, 4360356, 3082322, 5020460, 1916405, 4731831, 1654026, 114463, 2027807, 4125333, 1086011, 8969405, 4360356, ss219207122, ss231139250, ss238700839, ss484358885, ss536541348, ss555516789, ss649101595, ss780623791, ss782625672, ss836117457, ss976750588, ss1069055309, ss1296915947, ss1578846840, ss1603343782, ss1646337815, ss1796656537, ss1919985877, ss2020525535, ss2095090171, ss2148569657, ss2633604254, ss2703134935, ss2772563182, ss2989381313, ss3344193321, ss3628047212, ss3631571905, ss3642091200, ss3652395208, ss3657344074, ss3728369161, ss3756662955, ss3852108353, ss3897554437, ss3984888536, ss5151000098, ss5328417744, ss5506378812, ss5628587705, ss5819992414, ss5954804640 NC_000002.11:43596745:T:G NC_000002.12:43369606:T:G (self)
10378589, 55723820, 1783236, 13357047, 306670998, 8616647288, ss2229606791, ss3024028335, ss3703738827, ss3801038608, ss4502848119, ss5247785456, ss5448013007, ss5522852654, ss5679519943, ss5802138722, ss5930039242 NC_000002.12:43369606:T:G NC_000002.12:43369606:T:G (self)
ss9908127 NT_022184.12:22412678:T:G NC_000002.12:43369606:T:G (self)
ss23699515, ss138433176, ss410836412 NT_022184.15:22418632:T:G NC_000002.12:43369606: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 rs6705304

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.post820+afb47a3d