Name: rs6571786
Published: September 21, 2022
License: Open Access

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.

rs6571786

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:37129301 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.062685 (16592/264690, TOPMED)
T=0.063179 (8860/140236, GnomAD)
T=0.00000 (0/28258, 14KJPN) (+ 17 more)
T=0.05469 (1033/18890, ALFA)
T=0.00000 (0/16760, 8.3KJPN)
T=0.0481 (308/6404, 1000G_30x)
T=0.0467 (234/5008, 1000G)
T=0.0614 (275/4480, Estonian)
T=0.0363 (140/3854, ALSPAC)
T=0.0356 (132/3708, TWINSUK)
T=0.0003 (1/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.0828 (129/1558, HapMap)
T=0.041 (41/998, GoNL)
T=0.030 (18/600, NorthernSweden)
T=0.032 (18/556, SGDP_PRJ)
T=0.093 (20/216, Qatari)
T=0.005 (1/214, Vietnamese)
T=0.02 (1/56, Siberian)
T=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC25A21 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18890	T=0.05469	A=0.94531
European	Sub	14286	T=0.04466	A=0.95534
African	Sub	2946	T=0.1171	A=0.8829
African Others	Sub	114	T=0.149	A=0.851
African American	Sub	2832	T=0.1158	A=0.8842
Asian	Sub	112	T=0.000	A=1.000
East Asian	Sub	86	T=0.00	A=1.00
Other Asian	Sub	26	T=0.00	A=1.00
Latin American 1	Sub	146	T=0.041	A=0.959
Latin American 2	Sub	610	T=0.020	A=0.980
South Asian	Sub	98	T=0.02	A=0.98
Other	Sub	692	T=0.043	A=0.957

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.062685	A=0.937315
gnomAD - Genomes	Global	Study-wide	140236	T=0.063179	A=0.936821
gnomAD - Genomes	European	Sub	75954	T=0.03887	A=0.96113
gnomAD - Genomes	African	Sub	42014	T=0.11944	A=0.88056
gnomAD - Genomes	American	Sub	13658	T=0.04093	A=0.95907
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.0590	A=0.9410
gnomAD - Genomes	East Asian	Sub	3134	T=0.0000	A=1.0000
gnomAD - Genomes	Other	Sub	2152	T=0.0627	A=0.9373
14KJPN	JAPANESE	Study-wide	28258	T=0.00000	A=1.00000
Allele Frequency Aggregator	Total	Global	18890	T=0.05469	A=0.94531
Allele Frequency Aggregator	European	Sub	14286	T=0.04466	A=0.95534
Allele Frequency Aggregator	African	Sub	2946	T=0.1171	A=0.8829
Allele Frequency Aggregator	Other	Sub	692	T=0.043	A=0.957
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.020	A=0.980
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.041	A=0.959
Allele Frequency Aggregator	Asian	Sub	112	T=0.000	A=1.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.02	A=0.98
8.3KJPN	JAPANESE	Study-wide	16760	T=0.00000	A=1.00000
1000Genomes_30x	Global	Study-wide	6404	T=0.0481	A=0.9519
1000Genomes_30x	African	Sub	1786	T=0.1288	A=0.8712
1000Genomes_30x	Europe	Sub	1266	T=0.0300	A=0.9700
1000Genomes_30x	South Asian	Sub	1202	T=0.0092	A=0.9908
1000Genomes_30x	East Asian	Sub	1170	T=0.0000	A=1.0000
1000Genomes_30x	American	Sub	980	T=0.030	A=0.970
1000Genomes	Global	Study-wide	5008	T=0.0467	A=0.9533
1000Genomes	African	Sub	1322	T=0.1309	A=0.8691
1000Genomes	East Asian	Sub	1008	T=0.0000	A=1.0000
1000Genomes	Europe	Sub	1006	T=0.0288	A=0.9712
1000Genomes	South Asian	Sub	978	T=0.011	A=0.989
1000Genomes	American	Sub	694	T=0.030	A=0.970
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0614	A=0.9386
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0363	A=0.9637
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0356	A=0.9644
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0003	A=0.9997, C=0.0000, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	A=1.0000
HapMap	Global	Study-wide	1558	T=0.0828	A=0.9172
HapMap	African	Sub	692	T=0.152	A=0.848
HapMap	American	Sub	600	T=0.038	A=0.962
HapMap	Europe	Sub	176	T=0.006	A=0.994
HapMap	Asian	Sub	90	T=0.00	A=1.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.041	A=0.959
Northern Sweden	ACPOP	Study-wide	600	T=0.030	A=0.970
SGDP_PRJ	Global	Study-wide	556	T=0.032	A=0.968
Qatari	Global	Study-wide	216	T=0.093	A=0.907
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.005	A=0.995
Siberian	Global	Study-wide	56	T=0.02	A=0.98
The Danish reference pan genome	Danish	Study-wide	40	T=0.07	A=0.93

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 14	NC_000014.9:g.37129301T>A
GRCh38.p14 chr 14	NC_000014.9:g.37129301T>C
GRCh38.p14 chr 14	NC_000014.9:g.37129301T>G
GRCh37.p13 chr 14	NC_000014.8:g.37598506T>A
GRCh37.p13 chr 14	NC_000014.8:g.37598506T>C
GRCh37.p13 chr 14	NC_000014.8:g.37598506T>G

Gene: SLC25A21, solute carrier family 25 member 21 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC25A21 transcript variant 2	NM_001171170.2:c.70+42980… NM_001171170.2:c.70+42980A>T	N/A	Intron Variant
SLC25A21 transcript variant 1	NM_030631.4:c.70+42980A>T	N/A	Intron Variant
SLC25A21 transcript variant X1	XM_047431871.1:c.70+42980… XM_047431871.1:c.70+42980A>T	N/A	Intron Variant
SLC25A21 transcript variant X2	XM_011537288.4:c.	N/A	Genic Upstream Transcript Variant
SLC25A21 transcript variant X3	XM_011537289.4:c.	N/A	Genic Upstream Transcript Variant

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

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	G
GRCh38.p14 chr 14	NC_000014.9:g.37129301=	NC_000014.9:g.37129301T>A	NC_000014.9:g.37129301T>C	NC_000014.9:g.37129301T>G
GRCh37.p13 chr 14	NC_000014.8:g.37598506=	NC_000014.8:g.37598506T>A	NC_000014.8:g.37598506T>C	NC_000014.8:g.37598506T>G
SLC25A21 transcript variant 2	NM_001171170.1:c.70+42980=	NM_001171170.1:c.70+42980A>T	NM_001171170.1:c.70+42980A>G	NM_001171170.1:c.70+42980A>C
SLC25A21 transcript variant 2	NM_001171170.2:c.70+42980=	NM_001171170.2:c.70+42980A>T	NM_001171170.2:c.70+42980A>G	NM_001171170.2:c.70+42980A>C
SLC25A21 transcript variant 1	NM_030631.3:c.70+42980=	NM_030631.3:c.70+42980A>T	NM_030631.3:c.70+42980A>G	NM_030631.3:c.70+42980A>C
SLC25A21 transcript variant 1	NM_030631.4:c.70+42980=	NM_030631.4:c.70+42980A>T	NM_030631.4:c.70+42980A>G	NM_030631.4:c.70+42980A>C
SLC25A21 transcript variant X1	XM_047431871.1:c.70+42980=	XM_047431871.1:c.70+42980A>T	XM_047431871.1:c.70+42980A>G	XM_047431871.1:c.70+42980A>C

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#.

84 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10732829	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss12280587	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss19302538	Feb 27, 2004 (120)
4	SSAHASNP	ss21172635	Apr 05, 2004 (121)
5	PERLEGEN	ss23652746	Sep 20, 2004 (123)
6	ABI	ss43596543	Mar 13, 2006 (126)
7	AFFY	ss66460886	Nov 30, 2006 (127)
8	AFFY	ss76259434	Dec 08, 2007 (130)
9	HGSV	ss78027064	Dec 07, 2007 (129)
10	HGSV	ss81055218	Dec 15, 2007 (130)
11	HGSV	ss81545076	Dec 15, 2007 (130)
12	KRIBB_YJKIM	ss82267282	Dec 14, 2007 (130)
13	BCMHGSC_JDW	ss89911099	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss96851117	Feb 05, 2009 (130)
15	BGI	ss106379868	Feb 05, 2009 (130)
16	1000GENOMES	ss108250554	Jan 23, 2009 (130)
17	1000GENOMES	ss113162333	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss118413780	Feb 14, 2009 (130)
19	ENSEMBL	ss133920119	Dec 01, 2009 (131)
20	ENSEMBL	ss137065792	Dec 01, 2009 (131)
21	GMI	ss155648994	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss167856820	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss169180270	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss170974618	Jul 04, 2010 (132)
25	AFFY	ss173010711	Jul 04, 2010 (132)
26	BUSHMAN	ss199940322	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss206832151	Jul 04, 2010 (132)
28	1000GENOMES	ss226513288	Jul 14, 2010 (132)
29	1000GENOMES	ss236499305	Jul 15, 2010 (132)
30	BL	ss254910314	May 09, 2011 (134)
31	GMI	ss281959923	May 04, 2012 (137)
32	GMI	ss286821889	Apr 25, 2013 (138)
33	PJP	ss291702489	May 09, 2011 (134)
34	TISHKOFF	ss564029588	Apr 25, 2013 (138)
35	SSMP	ss659694224	Apr 25, 2013 (138)
36	EVA-GONL	ss991030743	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1079566158	Aug 21, 2014 (142)
38	1000GENOMES	ss1350575676	Aug 21, 2014 (142)
39	DDI	ss1427389413	Apr 01, 2015 (144)
40	EVA_GENOME_DK	ss1577178294	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1631512151	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1674506184	Apr 01, 2015 (144)
43	EVA_SVP	ss1713437246	Apr 01, 2015 (144)
44	HAMMER_LAB	ss1807875082	Sep 08, 2015 (146)
45	WEILL_CORNELL_DGM	ss1934407390	Feb 12, 2016 (147)
46	GENOMED	ss1967936414	Jul 19, 2016 (147)
47	JJLAB	ss2027979198	Sep 14, 2016 (149)
48	USC_VALOUEV	ss2156352119	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2201094260	Dec 20, 2016 (150)
50	SYSTEMSBIOZJU	ss2628478593	Nov 08, 2017 (151)
51	GRF	ss2700770069	Nov 08, 2017 (151)
52	GNOMAD	ss2926471356	Nov 08, 2017 (151)
53	SWEGEN	ss3012026486	Nov 08, 2017 (151)
54	BIOINF_KMB_FNS_UNIBA	ss3027812738	Nov 08, 2017 (151)
55	CSHL	ss3350754537	Nov 08, 2017 (151)
56	URBANLAB	ss3650183001	Oct 12, 2018 (152)
57	EGCUT_WGS	ss3679269909	Jul 13, 2019 (153)
58	EVA_DECODE	ss3696469187	Jul 13, 2019 (153)
59	ACPOP	ss3740286003	Jul 13, 2019 (153)
60	EVA	ss3752191117	Jul 13, 2019 (153)
61	PACBIO	ss3787635915	Jul 13, 2019 (153)
62	PACBIO	ss3792679044	Jul 13, 2019 (153)
63	PACBIO	ss3797563167	Jul 13, 2019 (153)
64	KHV_HUMAN_GENOMES	ss3817523368	Jul 13, 2019 (153)
65	EVA	ss3833861980	Apr 27, 2020 (154)
66	EVA	ss3840523546	Apr 27, 2020 (154)
67	EVA	ss3846011714	Apr 27, 2020 (154)
68	SGDP_PRJ	ss3881277525	Apr 27, 2020 (154)
69	KRGDB	ss3930268178	Apr 27, 2020 (154)
70	KOGIC	ss3974722860	Apr 27, 2020 (154)
71	TOPMED	ss4966911246	Apr 26, 2021 (155)
72	TOMMO_GENOMICS	ss5212750407	Apr 26, 2021 (155)
73	1000G_HIGH_COVERAGE	ss5295844818	Oct 16, 2022 (156)
74	EVA	ss5414594785	Oct 16, 2022 (156)
75	HUGCELL_USP	ss5489936845	Oct 16, 2022 (156)
76	EVA	ss5511193149	Oct 16, 2022 (156)
77	1000G_HIGH_COVERAGE	ss5595925327	Oct 16, 2022 (156)
78	SANFORD_IMAGENETICS	ss5656001398	Oct 16, 2022 (156)
79	TOMMO_GENOMICS	ss5765416874	Oct 16, 2022 (156)
80	YY_MCH	ss5814657109	Oct 16, 2022 (156)
81	EVA	ss5840958888	Oct 16, 2022 (156)
82	EVA	ss5850988105	Oct 16, 2022 (156)
83	EVA	ss5900913839	Oct 16, 2022 (156)
84	EVA	ss5947425894	Oct 16, 2022 (156)
85	1000Genomes	NC_000014.8 - 37598506	Oct 12, 2018 (152)
86	1000Genomes_30x	NC_000014.9 - 37129301	Oct 16, 2022 (156)
87	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 37598506	Oct 12, 2018 (152)
88	Genetic variation in the Estonian population	NC_000014.8 - 37598506	Oct 12, 2018 (152)
89	The Danish reference pan genome	NC_000014.8 - 37598506	Apr 27, 2020 (154)
90	gnomAD - Genomes	NC_000014.9 - 37129301	Apr 26, 2021 (155)
91	Genome of the Netherlands Release 5	NC_000014.8 - 37598506	Apr 27, 2020 (154)
92	HapMap	NC_000014.9 - 37129301	Apr 27, 2020 (154)
93	KOREAN population from KRGDB	NC_000014.8 - 37598506	Apr 27, 2020 (154)
94	Korean Genome Project	NC_000014.9 - 37129301	Apr 27, 2020 (154)
95	Northern Sweden	NC_000014.8 - 37598506	Jul 13, 2019 (153)
96	Qatari	NC_000014.8 - 37598506	Apr 27, 2020 (154)
97	SGDP_PRJ	NC_000014.8 - 37598506	Apr 27, 2020 (154)
98	Siberian	NC_000014.8 - 37598506	Apr 27, 2020 (154)
99	8.3KJPN	NC_000014.8 - 37598506	Apr 26, 2021 (155)
100	14KJPN	NC_000014.9 - 37129301	Oct 16, 2022 (156)
101	TopMed	NC_000014.9 - 37129301	Apr 26, 2021 (155)
102	UK 10K study - Twins	NC_000014.8 - 37598506	Oct 12, 2018 (152)
103	A Vietnamese Genetic Variation Database	NC_000014.8 - 37598506	Jul 13, 2019 (153)
104	ALFA	NC_000014.9 - 37129301	Apr 26, 2021 (155)

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)
rs56469466	May 25, 2008 (130)
rs57220594	Feb 27, 2009 (130)
rs59605854	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66460886, ss76259434, ss78027064, ss81055218, ss81545076, ss89911099, ss108250554, ss113162333, ss118413780, ss167856820, ss169180270, ss170974618, ss173010711, ss199940322, ss206832151, ss254910314, ss281959923, ss286821889, ss291702489, ss1713437246	NC_000014.7:36668256:T:A	NC_000014.9:37129300:T:A	(self)
63539498, 35297811, 25008157, 3556952, 15764993, 37445572, 13570868, 16449320, 33294505, 8868473, 70719714, 35297811, 7849804, ss226513288, ss236499305, ss564029588, ss659694224, ss991030743, ss1079566158, ss1350575676, ss1427389413, ss1577178294, ss1631512151, ss1674506184, ss1807875082, ss1934407390, ss1967936414, ss2027979198, ss2156352119, ss2628478593, ss2700770069, ss2926471356, ss3012026486, ss3350754537, ss3679269909, ss3740286003, ss3752191117, ss3787635915, ss3792679044, ss3797563167, ss3833861980, ss3840523546, ss3881277525, ss3930268178, ss5212750407, ss5414594785, ss5511193149, ss5656001398, ss5840958888, ss5947425894	NC_000014.8:37598505:T:A	NC_000014.9:37129300:T:A	(self)
83451262, 448058027, 1123902, 31100861, 99253978, 182456905, 619577865, ss2201094260, ss3027812738, ss3650183001, ss3696469187, ss3817523368, ss3846011714, ss3974722860, ss4966911246, ss5295844818, ss5489936845, ss5595925327, ss5765416874, ss5814657109, ss5850988105, ss5900913839	NC_000014.9:37129300:T:A	NC_000014.9:37129300:T:A	(self)
ss10732829, ss12280587, ss19302538, ss21172635	NT_026437.10:17518544:T:A	NC_000014.9:37129300:T:A	(self)
ss23652746, ss43596543, ss82267282, ss96851117, ss106379868, ss133920119, ss137065792, ss155648994	NT_026437.12:18598505:T:A	NC_000014.9:37129300:T:A	(self)
37445572, ss3930268178	NC_000014.8:37598505:T:C	NC_000014.9:37129300:T:C	(self)
37445572, ss3930268178	NC_000014.8:37598505:T:G	NC_000014.9:37129300:T:G	(self)

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

No publications for rs6571786

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6571786