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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.

rs6456180

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:170233344 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.298980 (79137/264690, TOPMED)
C=0.290272 (40627/139962, GnomAD)
T=0.49483 (13983/28258, 14KJPN) (+ 16 more)
C=0.22732 (4294/18890, ALFA)
T=0.49743 (8337/16760, 8.3KJPN)
C=0.3471 (2223/6404, 1000G_30x)
C=0.3454 (1730/5008, 1000G)
C=0.1754 (786/4480, Estonian)
C=0.1518 (585/3854, ALSPAC)
C=0.1456 (540/3708, TWINSUK)
C=0.4758 (1394/2930, KOREAN)
C=0.136 (136/998, GoNL)
C=0.103 (62/600, NorthernSweden)
C=0.423 (137/324, HapMap)
T=0.369 (107/290, SGDP_PRJ)
C=0.296 (64/216, Qatari)
C=0.415 (88/212, Vietnamese)
C=0.15 (6/40, GENOME_DK)
T=0.36 (10/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 18890 T=0.77268 C=0.22732
European Sub 14286 T=0.84152 C=0.15848
African Sub 2946 T=0.4498 C=0.5502
African Others Sub 114 T=0.456 C=0.544
African American Sub 2832 T=0.4495 C=0.5505
Asian Sub 112 T=0.554 C=0.446
East Asian Sub 86 T=0.53 C=0.47
Other Asian Sub 26 T=0.62 C=0.38
Latin American 1 Sub 146 T=0.678 C=0.322
Latin American 2 Sub 610 T=0.815 C=0.185
South Asian Sub 98 T=0.84 C=0.16
Other Sub 692 T=0.736 C=0.264


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=0.701020 C=0.298980
gnomAD - Genomes Global Study-wide 139962 T=0.709728 C=0.290272
gnomAD - Genomes European Sub 75878 T=0.84616 C=0.15384
gnomAD - Genomes African Sub 41858 T=0.43483 C=0.56517
gnomAD - Genomes American Sub 13648 T=0.80891 C=0.19109
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.7904 C=0.2096
gnomAD - Genomes East Asian Sub 3106 T=0.5544 C=0.4456
gnomAD - Genomes Other Sub 2152 T=0.7170 C=0.2830
14KJPN JAPANESE Study-wide 28258 T=0.49483 C=0.50517
Allele Frequency Aggregator Total Global 18890 T=0.77268 C=0.22732
Allele Frequency Aggregator European Sub 14286 T=0.84152 C=0.15848
Allele Frequency Aggregator African Sub 2946 T=0.4498 C=0.5502
Allele Frequency Aggregator Other Sub 692 T=0.736 C=0.264
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.815 C=0.185
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.678 C=0.322
Allele Frequency Aggregator Asian Sub 112 T=0.554 C=0.446
Allele Frequency Aggregator South Asian Sub 98 T=0.84 C=0.16
8.3KJPN JAPANESE Study-wide 16760 T=0.49743 C=0.50257
1000Genomes_30x Global Study-wide 6404 T=0.6529 C=0.3471
1000Genomes_30x African Sub 1786 T=0.3499 C=0.6501
1000Genomes_30x Europe Sub 1266 T=0.8562 C=0.1438
1000Genomes_30x South Asian Sub 1202 T=0.8053 C=0.1947
1000Genomes_30x East Asian Sub 1170 T=0.5667 C=0.4333
1000Genomes_30x American Sub 980 T=0.858 C=0.142
1000Genomes Global Study-wide 5008 T=0.6546 C=0.3454
1000Genomes African Sub 1322 T=0.3540 C=0.6460
1000Genomes East Asian Sub 1008 T=0.5665 C=0.4335
1000Genomes Europe Sub 1006 T=0.8519 C=0.1481
1000Genomes South Asian Sub 978 T=0.809 C=0.191
1000Genomes American Sub 694 T=0.852 C=0.148
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8246 C=0.1754
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8482 C=0.1518
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8544 C=0.1456
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5242 C=0.4758
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.864 C=0.136
Northern Sweden ACPOP Study-wide 600 T=0.897 C=0.103
HapMap Global Study-wide 324 T=0.577 C=0.423
HapMap African Sub 120 T=0.300 C=0.700
HapMap American Sub 116 T=0.862 C=0.138
HapMap Asian Sub 88 T=0.58 C=0.42
SGDP_PRJ Global Study-wide 290 T=0.369 C=0.631
Qatari Global Study-wide 216 T=0.704 C=0.296
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.585 C=0.415
The Danish reference pan genome Danish Study-wide 40 T=0.85 C=0.15
Siberian Global Study-wide 28 T=0.36 C=0.64
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 6 NC_000006.12:g.170233344T>A
GRCh38.p14 chr 6 NC_000006.12:g.170233344T>C
GRCh37.p13 chr 6 NC_000006.11:g.170543134T>A
GRCh37.p13 chr 6 NC_000006.11:g.170543134T>C
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= A C
GRCh38.p14 chr 6 NC_000006.12:g.170233344= NC_000006.12:g.170233344T>A NC_000006.12:g.170233344T>C
GRCh37.p13 chr 6 NC_000006.11:g.170543134= NC_000006.11:g.170543134T>A NC_000006.11:g.170543134T>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#.

60 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10287948 Jul 11, 2003 (116)
2 SC_SNP ss11121589 Jul 11, 2003 (116)
3 SC_SNP ss12832506 Dec 05, 2003 (119)
4 HGSV ss85969653 Dec 15, 2007 (130)
5 BGI ss104388608 Feb 20, 2009 (130)
6 1000GENOMES ss113152722 Jan 25, 2009 (130)
7 ILLUMINA-UK ss116831398 Feb 14, 2009 (130)
8 COMPLETE_GENOMICS ss162978761 Jul 04, 2010 (132)
9 COMPLETE_GENOMICS ss165313533 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss167513654 Jul 04, 2010 (132)
11 BUSHMAN ss202797703 Jul 04, 2010 (132)
12 1000GENOMES ss222843336 Jul 14, 2010 (132)
13 1000GENOMES ss233803384 Jul 15, 2010 (132)
14 1000GENOMES ss240794657 Jul 15, 2010 (132)
15 GMI ss279140639 May 04, 2012 (137)
16 PJP ss293793893 May 09, 2011 (134)
17 TISHKOFF ss559726235 Apr 25, 2013 (138)
18 SSMP ss654072435 Apr 25, 2013 (138)
19 EVA-GONL ss983816586 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1074270466 Aug 21, 2014 (142)
21 1000GENOMES ss1323453465 Aug 21, 2014 (142)
22 DDI ss1430988491 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1582019995 Apr 01, 2015 (144)
24 EVA_DECODE ss1593388509 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1617333361 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1660327394 Apr 01, 2015 (144)
27 HAMMER_LAB ss1804811585 Sep 08, 2015 (146)
28 WEILL_CORNELL_DGM ss1927059757 Feb 12, 2016 (147)
29 JJLAB ss2024198223 Sep 14, 2016 (149)
30 USC_VALOUEV ss2152396066 Dec 20, 2016 (150)
31 HUMAN_LONGEVITY ss2290825050 Dec 20, 2016 (150)
32 SYSTEMSBIOZJU ss2626591359 Nov 08, 2017 (151)
33 GRF ss2708042525 Nov 08, 2017 (151)
34 GNOMAD ss2848425663 Nov 08, 2017 (151)
35 SWEGEN ss3000427437 Nov 08, 2017 (151)
36 BIOINF_KMB_FNS_UNIBA ss3025894430 Nov 08, 2017 (151)
37 CSHL ss3347373845 Nov 08, 2017 (151)
38 EGCUT_WGS ss3668364960 Jul 13, 2019 (153)
39 EVA_DECODE ss3718865463 Jul 13, 2019 (153)
40 ACPOP ss3734248574 Jul 13, 2019 (153)
41 EVA ss3766041915 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3809206455 Jul 13, 2019 (153)
43 EVA ss3830349146 Apr 26, 2020 (154)
44 EVA ss3838661203 Apr 26, 2020 (154)
45 SGDP_PRJ ss3866352791 Apr 26, 2020 (154)
46 KRGDB ss3913357282 Apr 26, 2020 (154)
47 TOPMED ss4731749286 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5181260897 Apr 26, 2021 (155)
49 1000G_HIGH_COVERAGE ss5271397681 Oct 13, 2022 (156)
50 EVA ss5370903264 Oct 13, 2022 (156)
51 HUGCELL_USP ss5468740194 Oct 13, 2022 (156)
52 1000G_HIGH_COVERAGE ss5558845360 Oct 13, 2022 (156)
53 SANFORD_IMAGENETICS ss5642093513 Oct 13, 2022 (156)
54 TOMMO_GENOMICS ss5720546509 Oct 13, 2022 (156)
55 YY_MCH ss5808225172 Oct 13, 2022 (156)
56 EVA ss5843403665 Oct 13, 2022 (156)
57 EVA ss5855712572 Oct 13, 2022 (156)
58 EVA ss5887156078 Oct 13, 2022 (156)
59 EVA ss5971283271 Oct 13, 2022 (156)
60 EVA ss5971283272 Oct 13, 2022 (156)
61 1000Genomes NC_000006.11 - 170543134 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000006.12 - 170233344 Oct 13, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 170543134 Oct 12, 2018 (152)
64 Genetic variation in the Estonian population NC_000006.11 - 170543134 Oct 12, 2018 (152)
65 The Danish reference pan genome NC_000006.11 - 170543134 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000006.12 - 170233344 Apr 26, 2021 (155)
67 Genome of the Netherlands Release 5 NC_000006.11 - 170543134 Apr 26, 2020 (154)
68 HapMap NC_000006.12 - 170233344 Apr 26, 2020 (154)
69 KOREAN population from KRGDB NC_000006.11 - 170543134 Apr 26, 2020 (154)
70 Northern Sweden NC_000006.11 - 170543134 Jul 13, 2019 (153)
71 Qatari NC_000006.11 - 170543134 Apr 26, 2020 (154)
72 SGDP_PRJ NC_000006.11 - 170543134 Apr 26, 2020 (154)
73 Siberian NC_000006.11 - 170543134 Apr 26, 2020 (154)
74 8.3KJPN NC_000006.11 - 170543134 Apr 26, 2021 (155)
75 14KJPN NC_000006.12 - 170233344 Oct 13, 2022 (156)
76 TopMed NC_000006.12 - 170233344 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000006.11 - 170543134 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000006.11 - 170543134 Jul 13, 2019 (153)
79 ALFA NC_000006.12 - 170233344 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)
rs60043530 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2290825050 NC_000006.12:170233343:T:A NC_000006.12:170233343:T:A (self)
ss85969653 NC_000006.9:170460765:T:C NC_000006.12:170233343:T:C (self)
ss113152722, ss116831398, ss162978761, ss165313533, ss167513654, ss202797703, ss279140639, ss293793893, ss1593388509 NC_000006.10:170385058:T:C NC_000006.12:170233343:T:C (self)
35366842, 19727804, 14103208, 8184934, 8783131, 20534676, 7533439, 9101687, 18369771, 4912420, 39230204, 19727804, 4393727, ss222843336, ss233803384, ss240794657, ss559726235, ss654072435, ss983816586, ss1074270466, ss1323453465, ss1430988491, ss1582019995, ss1617333361, ss1660327394, ss1804811585, ss1927059757, ss2024198223, ss2152396066, ss2626591359, ss2708042525, ss2848425663, ss3000427437, ss3347373845, ss3668364960, ss3734248574, ss3766041915, ss3830349146, ss3838661203, ss3866352791, ss3913357282, ss5181260897, ss5370903264, ss5642093513, ss5843403665, ss5971283271, ss5971283272 NC_000006.11:170543133:T:C NC_000006.12:170233343:T:C (self)
46371295, 249552942, 3315248, 54383613, 569126844, 8633943979, ss2290825050, ss3025894430, ss3718865463, ss3809206455, ss4731749286, ss5271397681, ss5468740194, ss5558845360, ss5720546509, ss5808225172, ss5855712572, ss5887156078 NC_000006.12:170233343:T:C NC_000006.12:170233343:T:C (self)
ss10287948, ss11121589 NT_007583.11:213161:T:C NC_000006.12:170233343:T:C (self)
ss12832506, ss104388608 NT_025741.15:74712590:T:C NC_000006.12:170233343:T:C (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 rs6456180

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