Name: rs17168526
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.

rs17168526

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:7531789 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.002274 (656/288426, ALFA)
C=0.024447 (6471/264690, TOPMED)
C=0.005728 (1426/248946, GnomAD_exome) (+ 18 more)
C=0.006840 (824/120466, ExAC)
C=0.03553 (2796/78698, PAGE_STUDY)
C=0.00007 (2/28258, 14KJPN)
C=0.00006 (1/16758, 8.3KJPN)
C=0.02393 (286/11950, GO-ESP)
C=0.0258 (165/6404, 1000G_30x)
C=0.0254 (127/5008, 1000G)
C=0.0005 (2/3854, ALSPAC)
C=0.0000 (0/3708, TWINSUK)
C=0.0168 (35/2084, HGDP_Stanford)
C=0.0005 (1/1832, Korea1K)
C=0.087 (87/998, HapMap)
C=0.001 (1/792, PRJEB37584)
C=0.004 (2/534, MGP)
C=0.014 (3/216, Qatari)
C=0.00 (0/74, Ancient Sardinia)
T=0.50 (7/14, SGDP_PRJ)
C=0.50 (7/14, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: COL28A1 : Missense Variant
Publications: 1 citation
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	304786	T=0.996686	C=0.003314, G=0.000000	0.993641	0.000269	0.00609	32
European	Sub	264190	T=0.999603	C=0.000397, G=0.000000	0.999205	0.0	0.000795	0
African	Sub	13164	T=0.94029	C=0.05971, G=0.00000	0.886357	0.005773	0.10787	6
African Others	Sub	478	T=0.939	C=0.061, G=0.000	0.887029	0.008368	0.104603	1
African American	Sub	12686	T=0.94033	C=0.05967, G=0.00000	0.886331	0.005676	0.107993	5
Asian	Sub	3826	T=0.9997	C=0.0003, G=0.0000	0.999477	0.0	0.000523	0
East Asian	Sub	3114	T=0.9997	C=0.0003, G=0.0000	0.999358	0.0	0.000642	0
Other Asian	Sub	712	T=1.000	C=0.000, G=0.000	1.0	0.0	0.0	N/A
Latin American 1	Sub	1276	T=0.9835	C=0.0165, G=0.0000	0.967085	0.0	0.032915	0
Latin American 2	Sub	1860	T=0.9984	C=0.0016, G=0.0000	0.996774	0.0	0.003226	0
South Asian	Sub	5214	T=0.9998	C=0.0002, G=0.0000	0.999616	0.0	0.000384	0
Other	Sub	15256	T=0.99390	C=0.00610, G=0.00000	0.988201	0.000393	0.011405	15

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
Allele Frequency Aggregator	Total	Global	288426	T=0.997726	C=0.002274, G=0.000000
Allele Frequency Aggregator	European	Sub	254102	T=0.999603	C=0.000397, G=0.000000
Allele Frequency Aggregator	Other	Sub	13822	T=0.99486	C=0.00514, G=0.00000
Allele Frequency Aggregator	African	Sub	8326	T=0.9450	C=0.0550, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	5214	T=0.9998	C=0.0002, G=0.0000
Allele Frequency Aggregator	Asian	Sub	3826	T=0.9997	C=0.0003, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	1860	T=0.9984	C=0.0016, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1276	T=0.9835	C=0.0165, G=0.0000
TopMed	Global	Study-wide	264690	T=0.975553	C=0.024447
gnomAD - Exomes	Global	Study-wide	248946	T=0.994272	C=0.005728
gnomAD - Exomes	European	Sub	134314	T=0.999725	C=0.000275
gnomAD - Exomes	Asian	Sub	48564	T=0.99971	C=0.00029
gnomAD - Exomes	American	Sub	34508	T=0.99589	C=0.00411
gnomAD - Exomes	African	Sub	15480	T=0.92151	C=0.07849
gnomAD - Exomes	Ashkenazi Jewish	Sub	10042	T=0.99970	C=0.00030
gnomAD - Exomes	Other	Sub	6038	T=0.9975	C=0.0025
ExAC	Global	Study-wide	120466	T=0.993160	C=0.006840
ExAC	Europe	Sub	73182	T=0.99981	C=0.00019
ExAC	Asian	Sub	25094	T=0.99988	C=0.00012
ExAC	American	Sub	11542	T=0.99662	C=0.00338
ExAC	African	Sub	9752	T=0.9218	C=0.0782
ExAC	Other	Sub	896	T=0.994	C=0.006
The PAGE Study	Global	Study-wide	78698	T=0.96447	C=0.03553
The PAGE Study	AfricanAmerican	Sub	32516	T=0.92693	C=0.07307
The PAGE Study	Mexican	Sub	10810	T=0.99482	C=0.00518
The PAGE Study	Asian	Sub	8318	T=0.9999	C=0.0001
The PAGE Study	PuertoRican	Sub	7918	T=0.9847	C=0.0153
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9998	C=0.0002
The PAGE Study	Cuban	Sub	4230	T=0.9872	C=0.0128
The PAGE Study	Dominican	Sub	3826	T=0.9679	C=0.0321
The PAGE Study	CentralAmerican	Sub	2450	T=0.9841	C=0.0159
The PAGE Study	SouthAmerican	Sub	1980	T=0.9949	C=0.0051
The PAGE Study	NativeAmerican	Sub	1260	T=0.9881	C=0.0119
The PAGE Study	SouthAsian	Sub	856	T=1.000	C=0.000
14KJPN	JAPANESE	Study-wide	28258	T=0.99993	C=0.00007
8.3KJPN	JAPANESE	Study-wide	16758	T=0.99994	C=0.00006
GO Exome Sequencing Project	Global	Study-wide	11950	T=0.97607	C=0.02393
GO Exome Sequencing Project	European American	Sub	8216	T=0.9993	C=0.0007
GO Exome Sequencing Project	African American	Sub	3734	T=0.9250	C=0.0750
1000Genomes_30x	Global	Study-wide	6404	T=0.9742	C=0.0258
1000Genomes_30x	African	Sub	1786	T=0.9121	C=0.0879
1000Genomes_30x	Europe	Sub	1266	T=0.9984	C=0.0016
1000Genomes_30x	South Asian	Sub	1202	T=1.0000	C=0.0000
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.994	C=0.006
1000Genomes	Global	Study-wide	5008	T=0.9746	C=0.0254
1000Genomes	African	Sub	1322	T=0.9077	C=0.0923
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9990	C=0.0010
1000Genomes	South Asian	Sub	978	T=1.000	C=0.000
1000Genomes	American	Sub	694	T=0.994	C=0.006
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9995	C=0.0005
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=1.0000	C=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.9832	C=0.0168
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.998	C=0.002
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.986	C=0.014
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.880	C=0.120
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=1.00	C=0.00
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9995	C=0.0005
HapMap	Global	Study-wide	998	T=0.913	C=0.087
HapMap	African	Sub	690	T=0.888	C=0.112
HapMap	American	Sub	218	T=0.954	C=0.046
HapMap	Asian	Sub	90	T=1.00	C=0.00
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.999	C=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.999	C=0.001
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.996	C=0.004
Qatari	Global	Study-wide	216	T=0.986	C=0.014
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	T=1.00	C=0.00
SGDP_PRJ	Global	Study-wide	14	T=0.50	C=0.50

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 7	NC_000007.14:g.7531789T>C
GRCh38.p14 chr 7	NC_000007.14:g.7531789T>G
GRCh37.p13 chr 7	NC_000007.13:g.7571420T>C
GRCh37.p13 chr 7	NC_000007.13:g.7571420T>G

Gene: COL28A1, collagen type XXVIII alpha 1 chain (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COL28A1 transcript	NM_001037763.3:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain precursor	NP_001032852.2:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript	NM_001037763.3:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain precursor	NP_001032852.2:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X6	XM_011515362.2:c.	N/A	Genic Upstream Transcript Variant
COL28A1 transcript variant X8	XM_047420314.1:c.	N/A	Genic Upstream Transcript Variant
COL28A1 transcript variant X3	XM_011515359.2:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X1	XP_011513661.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X3	XM_011515359.2:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X1	XP_011513661.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X1	XM_011515360.3:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X1	XP_011513662.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X1	XM_011515360.3:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X1	XP_011513662.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X2	XM_011515358.4:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X1	XP_011513660.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X2	XM_011515358.4:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X1	XP_011513660.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X5	XM_047420313.1:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X2	XP_047276269.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X5	XM_047420313.1:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X2	XP_047276269.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X7	XM_011515363.3:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X4	XP_011513665.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X7	XM_011515363.3:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X4	XP_011513665.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X9	XM_011515364.3:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X6	XP_011513666.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X9	XM_011515364.3:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X6	XP_011513666.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X10	XM_017012133.2:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X7	XP_016867622.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X10	XM_017012133.2:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X7	XP_016867622.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X11	XM_011515365.3:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X8	XP_011513667.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X11	XM_011515365.3:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X8	XP_011513667.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X12	XM_011515366.3:c.240A>G	Q [CAA] > Q [CAG]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X9	XP_011513668.1:p.Gln80=	Q (Gln) > Q (Gln)	Synonymous Variant
COL28A1 transcript variant X12	XM_011515366.3:c.240A>C	Q [CAA] > H [CAC]	Coding Sequence Variant
collagen alpha-1(XXVIII) chain isoform X9	XP_011513668.1:p.Gln80His	Q (Gln) > H (His)	Missense Variant
COL28A1 transcript variant X4	XR_926936.4:n.401A>G	N/A	Non Coding Transcript Variant
COL28A1 transcript variant X4	XR_926936.4:n.401A>C	N/A	Non Coding 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.

Allele: C (allele ID: 700217 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000956463.3	not provided	Benign

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	G
GRCh38.p14 chr 7	NC_000007.14:g.7531789=	NC_000007.14:g.7531789T>C	NC_000007.14:g.7531789T>G
GRCh37.p13 chr 7	NC_000007.13:g.7571420=	NC_000007.13:g.7571420T>C	NC_000007.13:g.7571420T>G
COL28A1 transcript variant X2	XM_011515358.4:c.240=	XM_011515358.4:c.240A>G	XM_011515358.4:c.240A>C
COL28A1 transcript variant X6	XM_011515358.3:c.240=	XM_011515358.3:c.240A>G	XM_011515358.3:c.240A>C
COL28A1 transcript variant X6	XM_011515358.2:c.240=	XM_011515358.2:c.240A>G	XM_011515358.2:c.240A>C
COL28A1 transcript variant X1	XM_011515358.1:c.240=	XM_011515358.1:c.240A>G	XM_011515358.1:c.240A>C
COL28A1 transcript variant X4	XR_926936.4:n.401=	XR_926936.4:n.401A>G	XR_926936.4:n.401A>C
COL28A1 transcript variant X3	XR_926936.3:n.1642=	XR_926936.3:n.1642A>G	XR_926936.3:n.1642A>C
COL28A1 transcript variant X3	XR_926936.2:n.1642=	XR_926936.2:n.1642A>G	XR_926936.2:n.1642A>C
COL28A1 transcript variant X4	XR_926936.1:n.443=	XR_926936.1:n.443A>G	XR_926936.1:n.443A>C
COL28A1 transcript variant X1	XM_011515360.3:c.240=	XM_011515360.3:c.240A>G	XM_011515360.3:c.240A>C
COL28A1 transcript variant X2	XM_011515360.2:c.240=	XM_011515360.2:c.240A>G	XM_011515360.2:c.240A>C
COL28A1 transcript variant X3	XM_011515360.1:c.240=	XM_011515360.1:c.240A>G	XM_011515360.1:c.240A>C
COL28A1 transcript variant X9	XM_011515364.3:c.240=	XM_011515364.3:c.240A>G	XM_011515364.3:c.240A>C
COL28A1 transcript variant X10	XM_011515364.2:c.240=	XM_011515364.2:c.240A>G	XM_011515364.2:c.240A>C
COL28A1 transcript variant X8	XM_011515364.1:c.240=	XM_011515364.1:c.240A>G	XM_011515364.1:c.240A>C
COL28A1 transcript	NM_001037763.3:c.240=	NM_001037763.3:c.240A>G	NM_001037763.3:c.240A>C
COL28A1 transcript	NM_001037763.2:c.240=	NM_001037763.2:c.240A>G	NM_001037763.2:c.240A>C
COL28A1 transcript variant X7	XM_011515363.3:c.240=	XM_011515363.3:c.240A>G	XM_011515363.3:c.240A>C
COL28A1 transcript variant X9	XM_011515363.2:c.240=	XM_011515363.2:c.240A>G	XM_011515363.2:c.240A>C
COL28A1 transcript variant X7	XM_011515363.1:c.240=	XM_011515363.1:c.240A>G	XM_011515363.1:c.240A>C
COL28A1 transcript variant X12	XM_011515366.3:c.240=	XM_011515366.3:c.240A>G	XM_011515366.3:c.240A>C
COL28A1 transcript variant X13	XM_011515366.2:c.240=	XM_011515366.2:c.240A>G	XM_011515366.2:c.240A>C
COL28A1 transcript variant X10	XM_011515366.1:c.240=	XM_011515366.1:c.240A>G	XM_011515366.1:c.240A>C
COL28A1 transcript variant X11	XM_011515365.3:c.240=	XM_011515365.3:c.240A>G	XM_011515365.3:c.240A>C
COL28A1 transcript variant X12	XM_011515365.2:c.240=	XM_011515365.2:c.240A>G	XM_011515365.2:c.240A>C
COL28A1 transcript variant X9	XM_011515365.1:c.240=	XM_011515365.1:c.240A>G	XM_011515365.1:c.240A>C
COL28A1 transcript variant X3	XM_011515359.2:c.240=	XM_011515359.2:c.240A>G	XM_011515359.2:c.240A>C
COL28A1 transcript variant X2	XM_011515359.1:c.240=	XM_011515359.1:c.240A>G	XM_011515359.1:c.240A>C
COL28A1 transcript variant X10	XM_017012133.2:c.240=	XM_017012133.2:c.240A>G	XM_017012133.2:c.240A>C
COL28A1 transcript variant X11	XM_017012133.1:c.240=	XM_017012133.1:c.240A>G	XM_017012133.1:c.240A>C
COL28A1 transcript variant X5	XM_047420313.1:c.240=	XM_047420313.1:c.240A>G	XM_047420313.1:c.240A>C
collagen alpha-1(XXVIII) chain isoform X1	XP_011513660.1:p.Gln80=	XP_011513660.1:p.Gln80=	XP_011513660.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X1	XP_011513662.1:p.Gln80=	XP_011513662.1:p.Gln80=	XP_011513662.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X6	XP_011513666.1:p.Gln80=	XP_011513666.1:p.Gln80=	XP_011513666.1:p.Gln80His
collagen alpha-1(XXVIII) chain precursor	NP_001032852.2:p.Gln80=	NP_001032852.2:p.Gln80=	NP_001032852.2:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X4	XP_011513665.1:p.Gln80=	XP_011513665.1:p.Gln80=	XP_011513665.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X9	XP_011513668.1:p.Gln80=	XP_011513668.1:p.Gln80=	XP_011513668.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X8	XP_011513667.1:p.Gln80=	XP_011513667.1:p.Gln80=	XP_011513667.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X1	XP_011513661.1:p.Gln80=	XP_011513661.1:p.Gln80=	XP_011513661.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X7	XP_016867622.1:p.Gln80=	XP_016867622.1:p.Gln80=	XP_016867622.1:p.Gln80His
collagen alpha-1(XXVIII) chain isoform X2	XP_047276269.1:p.Gln80=	XP_047276269.1:p.Gln80=	XP_047276269.1:p.Gln80His

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#.

100 SubSNP, 22 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23319811	Sep 20, 2004 (123)
2	ILLUMINA	ss67180278	Nov 30, 2006 (127)
3	ILLUMINA	ss67546987	Nov 30, 2006 (127)
4	ILLUMINA	ss68176874	Dec 12, 2006 (127)
5	ILLUMINA	ss70658311	May 23, 2008 (130)
6	ILLUMINA	ss71219077	May 17, 2007 (127)
7	ILLUMINA	ss75923297	Dec 06, 2007 (129)
8	KRIBB_YJKIM	ss85372892	Dec 14, 2007 (130)
9	ILLUMINA	ss153645802	Dec 01, 2009 (131)
10	ILLUMINA	ss159312125	Dec 01, 2009 (131)
11	SEATTLESEQ	ss159714379	Dec 01, 2009 (131)
12	ILLUMINA	ss160432906	Dec 01, 2009 (131)
13	ILLUMINA	ss172776182	Jul 04, 2010 (132)
14	1000GENOMES	ss211982997	Jul 14, 2010 (132)
15	1000GENOMES	ss222881354	Jul 14, 2010 (132)
16	ILLUMINA	ss480207276	May 04, 2012 (137)
17	ILLUMINA	ss480217723	May 04, 2012 (137)
18	ILLUMINA	ss480289216	May 04, 2012 (137)
19	ILLUMINA	ss480947897	Sep 08, 2015 (146)
20	ILLUMINA	ss484901683	May 04, 2012 (137)
21	ILLUMINA	ss485473708	May 04, 2012 (137)
22	1000GENOMES	ss490941625	May 04, 2012 (137)
23	CLINSEQ_SNP	ss491902584	May 04, 2012 (137)
24	ILLUMINA	ss533655353	Sep 08, 2015 (146)
25	TISHKOFF	ss559778796	Apr 25, 2013 (138)
26	NHLBI-ESP	ss712759234	Apr 25, 2013 (138)
27	ILLUMINA	ss779190180	Aug 21, 2014 (142)
28	ILLUMINA	ss781194034	Aug 21, 2014 (142)
29	ILLUMINA	ss782897153	Aug 21, 2014 (142)
30	ILLUMINA	ss832151875	Apr 01, 2015 (144)
31	ILLUMINA	ss832824181	Aug 21, 2014 (142)
32	ILLUMINA	ss833415011	Aug 21, 2014 (142)
33	ILLUMINA	ss834655678	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss974463445	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1067486176	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1074323404	Aug 21, 2014 (142)
37	1000GENOMES	ss1323768197	Aug 21, 2014 (142)
38	EVA_UK10K_ALSPAC	ss1617485136	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1660479169	Apr 01, 2015 (144)
40	EVA_EXAC	ss1688647154	Apr 01, 2015 (144)
41	EVA_MGP	ss1711154912	Apr 01, 2015 (144)
42	ILLUMINA	ss1752694424	Sep 08, 2015 (146)
43	HAMMER_LAB	ss1804847229	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1927147750	Feb 12, 2016 (147)
45	ILLUMINA	ss1946201134	Feb 12, 2016 (147)
46	ILLUMINA	ss1958984718	Feb 12, 2016 (147)
47	HUMAN_LONGEVITY	ss2291403025	Dec 20, 2016 (150)
48	ILLUMINA	ss2634560527	Nov 08, 2017 (151)
49	ILLUMINA	ss2634560528	Nov 08, 2017 (151)
50	ILLUMINA	ss2711102032	Nov 08, 2017 (151)
51	GNOMAD	ss2736294497	Nov 08, 2017 (151)
52	GNOMAD	ss2747778380	Nov 08, 2017 (151)
53	GNOMAD	ss2849322850	Nov 08, 2017 (151)
54	AFFY	ss2986029296	Nov 08, 2017 (151)
55	ILLUMINA	ss3022704364	Nov 08, 2017 (151)
56	ILLUMINA	ss3625921000	Oct 12, 2018 (152)
57	ILLUMINA	ss3629741574	Oct 12, 2018 (152)
58	ILLUMINA	ss3632470631	Oct 12, 2018 (152)
59	ILLUMINA	ss3633450399	Oct 12, 2018 (152)
60	ILLUMINA	ss3634174770	Oct 12, 2018 (152)
61	ILLUMINA	ss3635105789	Oct 12, 2018 (152)
62	ILLUMINA	ss3635854883	Oct 12, 2018 (152)
63	ILLUMINA	ss3636835367	Oct 12, 2018 (152)
64	ILLUMINA	ss3637607828	Oct 12, 2018 (152)
65	ILLUMINA	ss3638677693	Oct 12, 2018 (152)
66	ILLUMINA	ss3639340593	Oct 12, 2018 (152)
67	ILLUMINA	ss3639965139	Oct 12, 2018 (152)
68	ILLUMINA	ss3640813085	Oct 12, 2018 (152)
69	ILLUMINA	ss3643615352	Oct 12, 2018 (152)
70	ILLUMINA	ss3644009524	Oct 12, 2018 (152)
71	ILLUMINA	ss3644934232	Oct 12, 2018 (152)
72	ILLUMINA	ss3653231592	Oct 12, 2018 (152)
73	ILLUMINA	ss3654159209	Oct 12, 2018 (152)
74	ILLUMINA	ss3726416777	Jul 13, 2019 (153)
75	ILLUMINA	ss3744284387	Jul 13, 2019 (153)
76	ILLUMINA	ss3745405691	Jul 13, 2019 (153)
77	PAGE_CC	ss3771348517	Jul 13, 2019 (153)
78	ILLUMINA	ss3772898906	Jul 13, 2019 (153)
79	KHV_HUMAN_GENOMES	ss3809301678	Jul 13, 2019 (153)
80	EVA	ss3824257149	Apr 26, 2020 (154)
81	HGDP	ss3847863901	Apr 26, 2020 (154)
82	SGDP_PRJ	ss3866543415	Apr 26, 2020 (154)
83	KOGIC	ss3960817124	Apr 26, 2020 (154)
84	EVA	ss3984582611	Apr 26, 2021 (155)
85	EVA	ss3985274634	Apr 26, 2021 (155)
86	EVA	ss3986373676	Apr 26, 2021 (155)
87	EVA	ss4017318090	Apr 26, 2021 (155)
88	TOPMED	ss4734222126	Apr 26, 2021 (155)
89	TOMMO_GENOMICS	ss5181644763	Apr 26, 2021 (155)
90	1000G_HIGH_COVERAGE	ss5271688647	Oct 13, 2022 (156)
91	EVA	ss5371401859	Oct 13, 2022 (156)
92	HUGCELL_USP	ss5468985957	Oct 13, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5559255078	Oct 13, 2022 (156)
94	SANFORD_IMAGENETICS	ss5624653225	Oct 13, 2022 (156)
95	SANFORD_IMAGENETICS	ss5642259016	Oct 13, 2022 (156)
96	TOMMO_GENOMICS	ss5721053554	Oct 13, 2022 (156)
97	EVA	ss5848127130	Oct 13, 2022 (156)
98	EVA	ss5848676819	Oct 13, 2022 (156)
99	EVA	ss5857543651	Oct 13, 2022 (156)
100	EVA	ss5971447358	Oct 13, 2022 (156)
101	1000Genomes	NC_000007.13 - 7571420	Oct 12, 2018 (152)
102	1000Genomes_30x	NC_000007.14 - 7531789	Oct 13, 2022 (156)
103	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 7571420	Oct 12, 2018 (152)
104	ExAC	NC_000007.13 - 7571420	Oct 12, 2018 (152)
105	gnomAD - Genomes Submission ignored due to conflicting rows: Row 251763343 (NC_000007.14:7531788:T:C 3312/140226) Row 251763344 (NC_000007.14:7531788:T:G 2/140236)	-	Apr 26, 2021 (155)
106	gnomAD - Genomes Submission ignored due to conflicting rows: Row 251763343 (NC_000007.14:7531788:T:C 3312/140226) Row 251763344 (NC_000007.14:7531788:T:G 2/140236)	-	Apr 26, 2021 (155)
107	gnomAD - Exomes	NC_000007.13 - 7571420	Jul 13, 2019 (153)
108	GO Exome Sequencing Project	NC_000007.13 - 7571420	Oct 12, 2018 (152)
109	HGDP-CEPH-db Supplement 1	NC_000007.12 - 7537945	Apr 26, 2020 (154)
110	HapMap	NC_000007.14 - 7531789	Apr 26, 2020 (154)
111	Korean Genome Project	NC_000007.14 - 7531789	Apr 26, 2020 (154)
112	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 7571420	Apr 26, 2020 (154)
113	The PAGE Study	NC_000007.14 - 7531789	Jul 13, 2019 (153)
114	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 7571420	Apr 26, 2021 (155)
115	CNV burdens in cranial meningiomas	NC_000007.13 - 7571420	Apr 26, 2021 (155)
116	Qatari	NC_000007.13 - 7571420	Apr 26, 2020 (154)
117	SGDP_PRJ	NC_000007.13 - 7571420	Apr 26, 2020 (154)
118	8.3KJPN	NC_000007.13 - 7571420	Apr 26, 2021 (155)
119	14KJPN	NC_000007.14 - 7531789	Oct 13, 2022 (156)
120	TopMed	NC_000007.14 - 7531789	Apr 26, 2021 (155)
121	UK 10K study - Twins	NC_000007.13 - 7571420	Oct 12, 2018 (152)
122	ALFA	NC_000007.14 - 7531789	Apr 26, 2021 (155)
123	ClinVar	RCV000956463.3	Oct 13, 2022 (156)

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)
rs56658614	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639340593, ss3639965139, ss3644009524	NC_000007.11:7344659:T:C	NC_000007.14:7531788:T:C	(self)
541793, ss160432906, ss211982997, ss480207276, ss485473708, ss491902584, ss3643615352, ss3847863901	NC_000007.12:7537944:T:C	NC_000007.14:7531788:T:C	(self)
35690733, 19893602, 8705656, 5452259, 715132, 270672, 500561, 132030, 9189680, 18560395, 39614070, 19893602, ss222881354, ss480217723, ss480289216, ss480947897, ss484901683, ss490941625, ss533655353, ss559778796, ss712759234, ss779190180, ss781194034, ss782897153, ss832151875, ss832824181, ss833415011, ss834655678, ss974463445, ss1067486176, ss1074323404, ss1323768197, ss1617485136, ss1660479169, ss1688647154, ss1711154912, ss1752694424, ss1804847229, ss1927147750, ss1946201134, ss1958984718, ss2634560527, ss2634560528, ss2711102032, ss2736294497, ss2747778380, ss2849322850, ss2986029296, ss3022704364, ss3625921000, ss3629741574, ss3632470631, ss3633450399, ss3634174770, ss3635105789, ss3635854883, ss3636835367, ss3637607828, ss3638677693, ss3640813085, ss3644934232, ss3653231592, ss3654159209, ss3744284387, ss3745405691, ss3772898906, ss3824257149, ss3866543415, ss3984582611, ss3985274634, ss3986373676, ss4017318090, ss5181644763, ss5371401859, ss5624653225, ss5642259016, ss5848127130, ss5848676819, ss5971447358	NC_000007.13:7571419:T:C	NC_000007.14:7531788:T:C	(self)
RCV000956463.3, 46781013, 3324894, 17195125, 569986, 54890658, 571599685, 9934502276, ss2291403025, ss3726416777, ss3771348517, ss3809301678, ss3960817124, ss4734222126, ss5271688647, ss5468985957, ss5559255078, ss5721053554, ss5857543651	NC_000007.14:7531788:T:C	NC_000007.14:7531788:T:C	(self)
ss23319811, ss67180278, ss67546987, ss68176874, ss70658311, ss71219077, ss75923297, ss85372892, ss153645802, ss159312125, ss159714379, ss172776182	NT_007819.17:7561419:T:C	NC_000007.14:7531788:T:C	(self)
9934502276	NC_000007.14:7531788:T:G	NC_000007.14:7531788:T:G	(self)

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

1 citation for rs17168526

PMID	Title	Author	Year	Journal
22610502	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Kennedy RB et al.	2012	Human genetics

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

rs17168526