Name: rs28895026
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.

rs28895026

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32423918 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.192395 (50925/264690, TOPMED)
C=0.202717 (28380/139998, GnomAD)
C=0.18368 (11227/61122, ALFA) (+ 16 more)
C=0.07796 (2203/28258, 14KJPN)
C=0.07834 (1313/16760, 8.3KJPN)
C=0.1832 (1173/6404, 1000G_30x)
C=0.1843 (923/5008, 1000G)
C=0.2203 (987/4480, Estonian)
C=0.1801 (694/3854, ALSPAC)
C=0.1726 (640/3708, TWINSUK)
C=0.0996 (291/2922, KOREAN)
C=0.1435 (163/1136, Daghestan)
C=0.157 (157/998, GoNL)
C=0.128 (77/600, NorthernSweden)
C=0.125 (27/216, Qatari)
C=0.094 (20/212, Vietnamese)
T=0.444 (63/142, SGDP_PRJ)
C=0.05 (2/40, GENOME_DK)
T=0.43 (6/14, 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	61122	T=0.81632	C=0.18368
European	Sub	49938	T=0.82192	C=0.17808
African	Sub	5598	T=0.7497	C=0.2503
African Others	Sub	198	T=0.712	C=0.288
African American	Sub	5400	T=0.7511	C=0.2489
Asian	Sub	162	T=0.932	C=0.068
East Asian	Sub	134	T=0.940	C=0.060
Other Asian	Sub	28	T=0.89	C=0.11
Latin American 1	Sub	154	T=0.805	C=0.195
Latin American 2	Sub	616	T=0.881	C=0.119
South Asian	Sub	100	T=0.84	C=0.16
Other	Sub	4554	T=0.8237	C=0.1763

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=0.807605	C=0.192395
gnomAD - Genomes	Global	Study-wide	139998	T=0.797283	C=0.202717
gnomAD - Genomes	European	Sub	75830	T=0.80249	C=0.19751
gnomAD - Genomes	African	Sub	41920	T=0.75150	C=0.24850
gnomAD - Genomes	American	Sub	13646	T=0.84875	C=0.15125
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.8893	C=0.1107
gnomAD - Genomes	East Asian	Sub	3130	T=0.9470	C=0.0530
gnomAD - Genomes	Other	Sub	2148	T=0.8194	C=0.1806
Allele Frequency Aggregator	Total	Global	61122	T=0.81632	C=0.18368
Allele Frequency Aggregator	European	Sub	49938	T=0.82192	C=0.17808
Allele Frequency Aggregator	African	Sub	5598	T=0.7497	C=0.2503
Allele Frequency Aggregator	Other	Sub	4554	T=0.8237	C=0.1763
Allele Frequency Aggregator	Latin American 2	Sub	616	T=0.881	C=0.119
Allele Frequency Aggregator	Asian	Sub	162	T=0.932	C=0.068
Allele Frequency Aggregator	Latin American 1	Sub	154	T=0.805	C=0.195
Allele Frequency Aggregator	South Asian	Sub	100	T=0.84	C=0.16
14KJPN	JAPANESE	Study-wide	28258	T=0.92204	C=0.07796
8.3KJPN	JAPANESE	Study-wide	16760	T=0.92166	C=0.07834
1000Genomes_30x	Global	Study-wide	6404	T=0.8168	C=0.1832
1000Genomes_30x	African	Sub	1786	T=0.7290	C=0.2710
1000Genomes_30x	Europe	Sub	1266	T=0.7930	C=0.2070
1000Genomes_30x	South Asian	Sub	1202	T=0.8253	C=0.1747
1000Genomes_30x	East Asian	Sub	1170	T=0.9291	C=0.0709
1000Genomes_30x	American	Sub	980	T=0.863	C=0.137
1000Genomes	Global	Study-wide	5008	T=0.8157	C=0.1843
1000Genomes	African	Sub	1322	T=0.7216	C=0.2784
1000Genomes	East Asian	Sub	1008	T=0.9306	C=0.0694
1000Genomes	Europe	Sub	1006	T=0.7843	C=0.2157
1000Genomes	South Asian	Sub	978	T=0.828	C=0.172
1000Genomes	American	Sub	694	T=0.856	C=0.144
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7797	C=0.2203
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8199	C=0.1801
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8274	C=0.1726
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9004	C=0.0996
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.8565	C=0.1435
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.868	C=0.132
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.882	C=0.118
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.877	C=0.123
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.769	C=0.231
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.79	C=0.21
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.94	C=0.06
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.843	C=0.157
Northern Sweden	ACPOP	Study-wide	600	T=0.872	C=0.128
Qatari	Global	Study-wide	216	T=0.875	C=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.906	C=0.094
SGDP_PRJ	Global	Study-wide	142	T=0.444	C=0.556
The Danish reference pan genome	Danish	Study-wide	40	T=0.95	C=0.05
Siberian	Global	Study-wide	14	T=0.43	C=0.57

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.32423918T>C
GRCh37.p13 chr 6	NC_000006.11:g.32391695T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3862013T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3862119T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3646959T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3652555T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3664236C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3669821C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3739044T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3738342T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3728140T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3733760T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3764868T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3770453T>C
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.30815A>G

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=	C
GRCh38.p14 chr 6	NC_000006.12:g.32423918=	NC_000006.12:g.32423918T>C
GRCh37.p13 chr 6	NC_000006.11:g.32391695=	NC_000006.11:g.32391695T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3862013=	NT_113891.3:g.3862013T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3862119=	NT_113891.2:g.3862119T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3646959=	NT_167248.2:g.3646959T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3652555=	NT_167248.1:g.3652555T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3664236C>T	NT_167245.2:g.3664236=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3669821C>T	NT_167245.1:g.3669821=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3739044=	NT_167249.2:g.3739044T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3738342=	NT_167249.1:g.3738342T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3728140=	NT_167246.2:g.3728140T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3733760=	NT_167246.1:g.3733760T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3764868=	NT_167247.2:g.3764868T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3770453=	NT_167247.1:g.3770453T>C
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.30815=	NT_187692.1:g.30815A>G

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#.

62 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss35524794	May 24, 2005 (125)
2	COMPLETE_GENOMICS	ss163355188	Jul 04, 2010 (132)
3	BCM-HGSC-SUB	ss207685577	Jul 04, 2010 (132)
4	1000GENOMES	ss211813684	Jul 14, 2010 (137)
5	1000GENOMES	ss222307255	Jul 14, 2010 (137)
6	1000GENOMES	ss233402054	Jul 14, 2010 (137)
7	1000GENOMES	ss240472879	Jul 15, 2010 (137)
8	GMI	ss278730540	May 04, 2012 (137)
9	GMI	ss285375574	Apr 25, 2013 (138)
10	ILLUMINA	ss535281868	Sep 08, 2015 (146)
11	TISHKOFF	ss559118033	Apr 25, 2013 (138)
12	SSMP	ss653040839	Apr 25, 2013 (138)
13	EVA-GONL	ss982773920	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1073510532	Aug 21, 2014 (142)
15	1000GENOMES	ss1319579470	Aug 21, 2014 (142)
16	HAMMER_LAB	ss1397450723	Sep 08, 2015 (146)
17	EVA_GENOME_DK	ss1581610114	Apr 01, 2015 (144)
18	EVA_DECODE	ss1592317462	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1615289320	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1658283353	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1804361114	Sep 08, 2015 (146)
22	WEILL_CORNELL_DGM	ss1926026008	Feb 12, 2016 (147)
23	JJLAB	ss2023646868	Sep 14, 2016 (149)
24	ILLUMINA	ss2095179276	Dec 20, 2016 (150)
25	USC_VALOUEV	ss2151814339	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2282983917	Dec 20, 2016 (150)
27	SYSTEMSBIOZJU	ss2626311334	Nov 08, 2017 (151)
28	GRF	ss2707408455	Nov 08, 2017 (151)
29	ILLUMINA	ss2711070475	Nov 08, 2017 (151)
30	SWEGEN	ss2998808259	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3025610655	Nov 08, 2017 (151)
32	ILLUMINA	ss3629508984	Oct 12, 2018 (152)
33	URBANLAB	ss3648311775	Oct 12, 2018 (152)
34	ILLUMINA	ss3653115866	Oct 12, 2018 (152)
35	EGCUT_WGS	ss3666721590	Jul 13, 2019 (153)
36	EVA_DECODE	ss3716922105	Jul 13, 2019 (153)
37	ACPOP	ss3733368711	Jul 13, 2019 (153)
38	ILLUMINA	ss3744551249	Jul 13, 2019 (153)
39	EVA	ss3764831413	Jul 13, 2019 (153)
40	PACBIO	ss3785427676	Jul 13, 2019 (153)
41	PACBIO	ss3790786771	Jul 13, 2019 (153)
42	PACBIO	ss3795664286	Jul 13, 2019 (153)
43	KHV_HUMAN_GENOMES	ss3807986167	Jul 13, 2019 (153)
44	EVA	ss3829836915	Apr 26, 2020 (154)
45	EVA	ss3838397094	Apr 26, 2020 (154)
46	EVA	ss3843839324	Apr 26, 2020 (154)
47	SGDP_PRJ	ss3864268359	Apr 26, 2020 (154)
48	KRGDB	ss3911045743	Apr 26, 2020 (154)
49	TOPMED	ss4698557948	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5176864616	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5267956745	Oct 17, 2022 (156)
52	EVA	ss5364756477	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5465687935	Oct 17, 2022 (156)
54	EVA	ss5508433021	Oct 17, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5553620363	Oct 17, 2022 (156)
56	SANFORD_IMAGENETICS	ss5640101902	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5714728510	Oct 17, 2022 (156)
58	YY_MCH	ss5807315415	Oct 17, 2022 (156)
59	EVA	ss5842037260	Oct 17, 2022 (156)
60	EVA	ss5855287742	Oct 17, 2022 (156)
61	EVA	ss5883264550	Oct 17, 2022 (156)
62	EVA	ss5968603675	Oct 17, 2022 (156)
63	1000Genomes	NC_000006.11 - 32391695	Oct 12, 2018 (152)
64	1000Genomes_30x	NC_000006.12 - 32423918	Oct 17, 2022 (156)
65	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32391695	Oct 12, 2018 (152)
66	Genome-wide autozygosity in Daghestan	NC_000006.10 - 32499673	Apr 26, 2020 (154)
67	Genetic variation in the Estonian population	NC_000006.11 - 32391695	Oct 12, 2018 (152)
68	The Danish reference pan genome	NC_000006.11 - 32391695	Apr 26, 2020 (154)
69	gnomAD - Genomes	NC_000006.12 - 32423918	Apr 26, 2021 (155)
70	Genome of the Netherlands Release 5	NC_000006.11 - 32391695	Apr 26, 2020 (154)
71	KOREAN population from KRGDB	NC_000006.11 - 32391695	Apr 26, 2020 (154)
72	Northern Sweden	NC_000006.11 - 32391695	Jul 13, 2019 (153)
73	Qatari	NC_000006.11 - 32391695	Apr 26, 2020 (154)
74	SGDP_PRJ	NC_000006.11 - 32391695	Apr 26, 2020 (154)
75	Siberian	NC_000006.11 - 32391695	Apr 26, 2020 (154)
76	8.3KJPN	NC_000006.11 - 32391695	Apr 26, 2021 (155)
77	14KJPN	NC_000006.12 - 32423918	Oct 17, 2022 (156)
78	TopMed	NC_000006.12 - 32423918	Apr 26, 2021 (155)
79	UK 10K study - Twins	NC_000006.11 - 32391695	Oct 12, 2018 (152)
80	A Vietnamese Genetic Variation Database	NC_000006.11 - 32391695	Jul 13, 2019 (153)
81	ALFA	NC_000006.12 - 32423918	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)
rs115263842	May 04, 2012 (137)
rs117079881	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
425371, ss163355188, ss207685577, ss211813684, ss278730540, ss285375574, ss1397450723, ss1592317462	NC_000006.10:32499672:T:C	NC_000006.12:32423917:T:C	(self)
31347865, 17480288, 12459838, 7775053, 7772239, 18223137, 6653576, 8067938, 16285339, 4330693, 34833923, 17480288, 3877532, ss222307255, ss233402054, ss240472879, ss535281868, ss559118033, ss653040839, ss982773920, ss1073510532, ss1319579470, ss1581610114, ss1615289320, ss1658283353, ss1804361114, ss1926026008, ss2023646868, ss2095179276, ss2151814339, ss2626311334, ss2707408455, ss2711070475, ss2998808259, ss3629508984, ss3653115866, ss3666721590, ss3733368711, ss3744551249, ss3764831413, ss3785427676, ss3790786771, ss3795664286, ss3829836915, ss3838397094, ss3864268359, ss3911045743, ss5176864616, ss5364756477, ss5508433021, ss5640101902, ss5842037260, ss5968603675	NC_000006.11:32391694:T:C	NC_000006.12:32423917:T:C	(self)
41146298, 221368919, 48565614, 535935506, 7310567628, ss2282983917, ss3025610655, ss3648311775, ss3716922105, ss3807986167, ss3843839324, ss4698557948, ss5267956745, ss5465687935, ss5553620363, ss5714728510, ss5807315415, ss5855287742, ss5883264550	NC_000006.12:32423917:T:C	NC_000006.12:32423917:T:C	(self)
ss35524794	NT_007592.15:32331694:T:C	NC_000006.12:32423917:T:C	(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 rs28895026

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

rs28895026