Name: rs17299208
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.

rs17299208

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:124564440 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.069598 (18422/264690, TOPMED)
A=0.079821 (11179/140050, GnomAD)
A=0.10595 (3853/36366, ALFA) (+ 20 more)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN)
A=0.0403 (258/6404, 1000G_30x)
A=0.0405 (203/5008, 1000G)
A=0.1230 (551/4480, Estonian)
A=0.1178 (454/3854, ALSPAC)
A=0.1200 (445/3708, TWINSUK)
A=0.0000 (0/2922, KOREAN)
A=0.0397 (79/1992, HGDP_Stanford)
A=0.0496 (76/1532, HapMap)
A=0.0951 (108/1136, Daghestan)
A=0.128 (128/998, GoNL)
A=0.145 (87/600, NorthernSweden)
A=0.046 (10/216, Qatari)
A=0.009 (2/212, Vietnamese)
A=0.05 (4/74, Ancient Sardinia)
G=0.43 (23/54, SGDP_PRJ)
A=0.23 (9/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MTSS1 : Intron 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	36366	G=0.89405	A=0.10595
European	Sub	31176	G=0.88257	A=0.11743
African	Sub	3040	G=0.9793	A=0.0207
African Others	Sub	120	G=0.992	A=0.008
African American	Sub	2920	G=0.9788	A=0.0212
Asian	Sub	152	G=1.000	A=0.000
East Asian	Sub	124	G=1.000	A=0.000
Other Asian	Sub	28	G=1.00	A=0.00
Latin American 1	Sub	168	G=0.917	A=0.083
Latin American 2	Sub	676	G=0.967	A=0.033
South Asian	Sub	100	G=0.94	A=0.06
Other	Sub	1054	G=0.9175	A=0.0825

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	G=0.930402	A=0.069598
gnomAD - Genomes	Global	Study-wide	140050	G=0.920179	A=0.079821
gnomAD - Genomes	European	Sub	75850	G=0.88120	A=0.11880
gnomAD - Genomes	African	Sub	41954	G=0.97755	A=0.02245
gnomAD - Genomes	American	Sub	13642	G=0.94788	A=0.05212
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8967	A=0.1033
gnomAD - Genomes	East Asian	Sub	3130	G=0.9984	A=0.0016
gnomAD - Genomes	Other	Sub	2152	G=0.9224	A=0.0776
Allele Frequency Aggregator	Total	Global	36366	G=0.89405	A=0.10595
Allele Frequency Aggregator	European	Sub	31176	G=0.88257	A=0.11743
Allele Frequency Aggregator	African	Sub	3040	G=0.9793	A=0.0207
Allele Frequency Aggregator	Other	Sub	1054	G=0.9175	A=0.0825
Allele Frequency Aggregator	Latin American 2	Sub	676	G=0.967	A=0.033
Allele Frequency Aggregator	Latin American 1	Sub	168	G=0.917	A=0.083
Allele Frequency Aggregator	Asian	Sub	152	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	100	G=0.94	A=0.06
14KJPN	JAPANESE	Study-wide	28258	G=0.99996	A=0.00004
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99994	A=0.00006
1000Genomes_30x	Global	Study-wide	6404	G=0.9597	A=0.0403
1000Genomes_30x	African	Sub	1786	G=0.9910	A=0.0090
1000Genomes_30x	Europe	Sub	1266	G=0.8815	A=0.1185
1000Genomes_30x	South Asian	Sub	1202	G=0.9542	A=0.0458
1000Genomes_30x	East Asian	Sub	1170	G=0.9966	A=0.0034
1000Genomes_30x	American	Sub	980	G=0.966	A=0.034
1000Genomes	Global	Study-wide	5008	G=0.9595	A=0.0405
1000Genomes	African	Sub	1322	G=0.9902	A=0.0098
1000Genomes	East Asian	Sub	1008	G=0.9960	A=0.0040
1000Genomes	Europe	Sub	1006	G=0.8877	A=0.1123
1000Genomes	South Asian	Sub	978	G=0.951	A=0.049
1000Genomes	American	Sub	694	G=0.964	A=0.036
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8770	A=0.1230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8822	A=0.1178
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8800	A=0.1200
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=1.0000	A=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	1992	G=0.9603	A=0.0397
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	456	G=0.998	A=0.002
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	364	G=0.929	A=0.071
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	334	G=0.922	A=0.078
HGDP-CEPH-db Supplement 1	Europe	Sub	310	G=0.923	A=0.077
HGDP-CEPH-db Supplement 1	Africa	Sub	240	G=0.992	A=0.008
HGDP-CEPH-db Supplement 1	America	Sub	216	G=1.000	A=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=1.00	A=0.00
HapMap	Global	Study-wide	1532	G=0.9504	A=0.0496
HapMap	American	Sub	600	G=0.923	A=0.077
HapMap	African	Sub	584	G=0.971	A=0.029
HapMap	Europe	Sub	176	G=0.932	A=0.068
HapMap	Asian	Sub	172	G=0.994	A=0.006
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	G=0.9049	A=0.0951
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.882	A=0.118
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.896	A=0.104
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.967	A=0.033
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.917	A=0.083
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.98	A=0.02
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.89	A=0.11
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.872	A=0.128
Northern Sweden	ACPOP	Study-wide	600	G=0.855	A=0.145
Qatari	Global	Study-wide	216	G=0.954	A=0.046
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.991	A=0.009
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	G=0.95	A=0.05
SGDP_PRJ	Global	Study-wide	54	G=0.43	A=0.57
The Danish reference pan genome	Danish	Study-wide	40	G=0.78	A=0.23
Siberian	Global	Study-wide	12	G=0.50	A=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 8	NC_000008.11:g.124564440G>A
GRCh37.p13 chr 8	NC_000008.10:g.125576681G>A
GRCh38.p14 chr 8 fix patch HG2408_PATCH	NW_025791784.1:g.99390G>A

Gene: MTSS1, MTSS I-BAR domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MTSS1 transcript variant 1	NM_001282971.2:c.836+1222… NM_001282971.2:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 3	NM_001282974.2:c.824+1222… NM_001282974.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 4	NM_001363294.2:c.824+1222… NM_001363294.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 5	NM_001363295.2:c.824+1222… NM_001363295.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 6	NM_001363296.2:c.836+1222… NM_001363296.2:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 7	NM_001363297.2:c.836+1222… NM_001363297.2:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 8	NM_001363298.2:c.824+1222… NM_001363298.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 9	NM_001363299.2:c.836+1222… NM_001363299.2:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 10	NM_001363300.2:c.824+1222… NM_001363300.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 11	NM_001363301.2:c.824+1222… NM_001363301.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 12	NM_001363302.2:c.824+1222… NM_001363302.2:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant 2	NM_014751.6:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X1	XM_005251111.3:c.836+1222… XM_005251111.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X11	XM_005251113.3:c.836+1222… XM_005251113.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X2	XM_006716700.3:c.836+1222… XM_006716700.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X3	XM_006716701.3:c.824+1222… XM_006716701.3:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X5	XM_006716702.3:c.836+1222… XM_006716702.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X15	XM_006716703.3:c.836+1222… XM_006716703.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X16	XM_006716704.3:c.836+1222… XM_006716704.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X17	XM_006716705.3:c.836+1222… XM_006716705.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X21	XM_006716706.3:c.836+1222… XM_006716706.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X12	XM_011517403.2:c.635+1222… XM_011517403.2:c.635+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X4	XM_017014086.3:c.824+1222… XM_017014086.3:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X6	XM_017014087.3:c.836+1222… XM_017014087.3:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X7	XM_017014088.3:c.824+1222… XM_017014088.3:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X8	XM_017014089.3:c.824+1222… XM_017014089.3:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X9	XM_017014090.3:c.671+1222… XM_017014090.3:c.671+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X10	XM_017014091.2:c.647+1222… XM_017014091.2:c.647+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X13	XM_017014092.3:c.824+1222… XM_017014092.3:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X14	XM_047422488.1:c.593+1222… XM_047422488.1:c.593+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X18	XM_047422490.1:c.824+1222… XM_047422490.1:c.824+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X19	XM_047422491.1:c.659+1222… XM_047422491.1:c.659+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X20	XM_047422492.1:c.836+1222… XM_047422492.1:c.836+1222C>T	N/A	Intron Variant
MTSS1 transcript variant X22	XM_047422493.1:c.824+1222… XM_047422493.1:c.824+1222C>T	N/A	Intron 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	G=	A
GRCh38.p14 chr 8	NC_000008.11:g.124564440=	NC_000008.11:g.124564440G>A
GRCh37.p13 chr 8	NC_000008.10:g.125576681=	NC_000008.10:g.125576681G>A
GRCh38.p14 chr 8 fix patch HG2408_PATCH	NW_025791784.1:g.99390=	NW_025791784.1:g.99390G>A
MTSS1 transcript variant 1	NM_001282971.2:c.836+1222=	NM_001282971.2:c.836+1222C>T
MTSS1 transcript variant 3	NM_001282974.2:c.824+1222=	NM_001282974.2:c.824+1222C>T
MTSS1 transcript variant 4	NM_001363294.2:c.824+1222=	NM_001363294.2:c.824+1222C>T
MTSS1 transcript variant 5	NM_001363295.2:c.824+1222=	NM_001363295.2:c.824+1222C>T
MTSS1 transcript variant 6	NM_001363296.2:c.836+1222=	NM_001363296.2:c.836+1222C>T
MTSS1 transcript variant 7	NM_001363297.2:c.836+1222=	NM_001363297.2:c.836+1222C>T
MTSS1 transcript variant 8	NM_001363298.2:c.824+1222=	NM_001363298.2:c.824+1222C>T
MTSS1 transcript variant 9	NM_001363299.2:c.836+1222=	NM_001363299.2:c.836+1222C>T
MTSS1 transcript variant 10	NM_001363300.2:c.824+1222=	NM_001363300.2:c.824+1222C>T
MTSS1 transcript variant 11	NM_001363301.2:c.824+1222=	NM_001363301.2:c.824+1222C>T
MTSS1 transcript variant 12	NM_001363302.2:c.824+1222=	NM_001363302.2:c.824+1222C>T
MTSS1 transcript	NM_014751.4:c.824+1222=	NM_014751.4:c.824+1222C>T
MTSS1 transcript variant 2	NM_014751.6:c.824+1222=	NM_014751.6:c.824+1222C>T
NDUFB9 transcript variant X1	XM_005250924.1:c.409-3207=	XM_005250924.1:c.409-3207G>A
MTSS1 transcript variant X1	XM_005251111.1:c.836+1222=	XM_005251111.1:c.836+1222C>T
MTSS1 transcript variant X1	XM_005251111.3:c.836+1222=	XM_005251111.3:c.836+1222C>T
MTSS1 transcript variant X2	XM_005251112.1:c.836+1222=	XM_005251112.1:c.836+1222C>T
MTSS1 transcript variant X11	XM_005251113.1:c.836+1222=	XM_005251113.1:c.836+1222C>T
MTSS1 transcript variant X11	XM_005251113.3:c.836+1222=	XM_005251113.3:c.836+1222C>T
MTSS1 transcript variant X4	XM_005251114.1:c.836+1222=	XM_005251114.1:c.836+1222C>T
MTSS1 transcript variant X5	XM_005251115.1:c.836+1222=	XM_005251115.1:c.836+1222C>T
MTSS1 transcript variant X6	XM_005251116.1:c.836+1222=	XM_005251116.1:c.836+1222C>T
MTSS1 transcript variant X7	XM_005251117.1:c.824+1222=	XM_005251117.1:c.824+1222C>T
MTSS1 transcript variant X23	XM_005251118.1:c.836+1222=	XM_005251118.1:c.836+1222C>T
MTSS1 transcript variant X9	XM_005251119.1:c.224+1222=	XM_005251119.1:c.224+1222C>T
MTSS1 transcript variant X2	XM_006716700.3:c.836+1222=	XM_006716700.3:c.836+1222C>T
MTSS1 transcript variant X3	XM_006716701.3:c.824+1222=	XM_006716701.3:c.824+1222C>T
MTSS1 transcript variant X5	XM_006716702.3:c.836+1222=	XM_006716702.3:c.836+1222C>T
MTSS1 transcript variant X15	XM_006716703.3:c.836+1222=	XM_006716703.3:c.836+1222C>T
MTSS1 transcript variant X16	XM_006716704.3:c.836+1222=	XM_006716704.3:c.836+1222C>T
MTSS1 transcript variant X17	XM_006716705.3:c.836+1222=	XM_006716705.3:c.836+1222C>T
MTSS1 transcript variant X21	XM_006716706.3:c.836+1222=	XM_006716706.3:c.836+1222C>T
MTSS1 transcript variant X12	XM_011517403.2:c.635+1222=	XM_011517403.2:c.635+1222C>T
MTSS1 transcript variant X4	XM_017014086.3:c.824+1222=	XM_017014086.3:c.824+1222C>T
MTSS1 transcript variant X6	XM_017014087.3:c.836+1222=	XM_017014087.3:c.836+1222C>T
MTSS1 transcript variant X7	XM_017014088.3:c.824+1222=	XM_017014088.3:c.824+1222C>T
MTSS1 transcript variant X8	XM_017014089.3:c.824+1222=	XM_017014089.3:c.824+1222C>T
MTSS1 transcript variant X9	XM_017014090.3:c.671+1222=	XM_017014090.3:c.671+1222C>T
MTSS1 transcript variant X10	XM_017014091.2:c.647+1222=	XM_017014091.2:c.647+1222C>T
MTSS1 transcript variant X13	XM_017014092.3:c.824+1222=	XM_017014092.3:c.824+1222C>T
MTSS1 transcript variant X14	XM_047422488.1:c.593+1222=	XM_047422488.1:c.593+1222C>T
MTSS1 transcript variant X18	XM_047422490.1:c.824+1222=	XM_047422490.1:c.824+1222C>T
MTSS1 transcript variant X19	XM_047422491.1:c.659+1222=	XM_047422491.1:c.659+1222C>T
MTSS1 transcript variant X20	XM_047422492.1:c.836+1222=	XM_047422492.1:c.836+1222C>T
MTSS1 transcript variant X22	XM_047422493.1:c.824+1222=	XM_047422493.1:c.824+1222C>T

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#.

68 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24533335	Sep 20, 2004 (123)
2	ILLUMINA	ss67183333	Nov 29, 2006 (127)
3	ILLUMINA	ss67554186	Nov 29, 2006 (127)
4	ILLUMINA	ss68179130	Dec 12, 2006 (127)
5	ILLUMINA	ss70661382	May 24, 2008 (130)
6	ILLUMINA	ss71222608	May 16, 2007 (127)
7	ILLUMINA	ss75779895	Dec 07, 2007 (129)
8	KRIBB_YJKIM	ss85380220	Dec 15, 2007 (130)
9	ILLUMINA	ss153662978	Dec 01, 2009 (131)
10	ILLUMINA	ss159315380	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss162767612	Jul 04, 2010 (132)
12	ILLUMINA	ss172804499	Jul 04, 2010 (132)
13	1000GENOMES	ss223966014	Jul 14, 2010 (132)
14	1000GENOMES	ss234618872	Jul 15, 2010 (132)
15	ILLUMINA	ss536963023	Sep 08, 2015 (146)
16	TISHKOFF	ss561054432	Apr 25, 2013 (138)
17	SSMP	ss655490658	Apr 25, 2013 (138)
18	ILLUMINA	ss832827426	Jul 13, 2019 (153)
19	EVA-GONL	ss986034247	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1075899915	Aug 21, 2014 (142)
21	1000GENOMES	ss1331825675	Aug 21, 2014 (142)
22	HAMMER_LAB	ss1397538740	Sep 08, 2015 (146)
23	DDI	ss1431664123	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1582876820	Apr 01, 2015 (144)
25	EVA_DECODE	ss1595649743	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1621681884	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1664675917	Apr 01, 2015 (144)
28	EVA_SVP	ss1713069227	Apr 01, 2015 (144)
29	WEILL_CORNELL_DGM	ss1929306278	Feb 12, 2016 (147)
30	JJLAB	ss2025356973	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2153585371	Dec 20, 2016 (150)
32	HUMAN_LONGEVITY	ss2307203484	Dec 20, 2016 (150)
33	GNOMAD	ss2872465175	Nov 08, 2017 (151)
34	SWEGEN	ss3003964343	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3026463848	Nov 08, 2017 (151)
36	CSHL	ss3348394539	Nov 08, 2017 (151)
37	ILLUMINA	ss3630154013	Oct 12, 2018 (152)
38	ILLUMINA	ss3638785056	Oct 12, 2018 (152)
39	ILLUMINA	ss3639395329	Oct 12, 2018 (152)
40	ILLUMINA	ss3639990647	Oct 12, 2018 (152)
41	ILLUMINA	ss3643714232	Oct 12, 2018 (152)
42	ILLUMINA	ss3644033873	Oct 12, 2018 (152)
43	EGCUT_WGS	ss3671686248	Jul 13, 2019 (153)
44	EVA_DECODE	ss3722965694	Jul 13, 2019 (153)
45	ACPOP	ss3736082414	Jul 13, 2019 (153)
46	EVA	ss3768582229	Jul 13, 2019 (153)
47	PACBIO	ss3786273758	Jul 13, 2019 (153)
48	PACBIO	ss3791507787	Jul 13, 2019 (153)
49	PACBIO	ss3796389316	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3811748219	Jul 13, 2019 (153)
51	EVA	ss3831402932	Apr 26, 2020 (154)
52	HGDP	ss3847929119	Apr 26, 2020 (154)
53	SGDP_PRJ	ss3870950080	Apr 26, 2020 (154)
54	KRGDB	ss3918548742	Apr 26, 2020 (154)
55	EVA	ss3985387528	Apr 26, 2021 (155)
56	TOPMED	ss4803515041	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5190906204	Apr 26, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5278865993	Oct 16, 2022 (156)
59	EVA	ss5384320488	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5475256066	Oct 16, 2022 (156)
61	EVA	ss5509544680	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5570162407	Oct 16, 2022 (156)
63	SANFORD_IMAGENETICS	ss5646370815	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5733604584	Oct 16, 2022 (156)
65	EVA	ss5831194510	Oct 16, 2022 (156)
66	EVA	ss5856563089	Oct 16, 2022 (156)
67	EVA	ss5890941519	Oct 16, 2022 (156)
68	EVA	ss5975619799	Oct 16, 2022 (156)
69	1000Genomes	NC_000008.10 - 125576681	Oct 12, 2018 (152)
70	1000Genomes_30x	NC_000008.11 - 124564440	Oct 16, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 125576681	Oct 12, 2018 (152)
72	Genome-wide autozygosity in Daghestan	NC_000008.9 - 125645862	Apr 26, 2020 (154)
73	Genetic variation in the Estonian population	NC_000008.10 - 125576681	Oct 12, 2018 (152)
74	The Danish reference pan genome	NC_000008.10 - 125576681	Apr 26, 2020 (154)
75	gnomAD - Genomes	NC_000008.11 - 124564440	Apr 26, 2021 (155)
76	Genome of the Netherlands Release 5	NC_000008.10 - 125576681	Apr 26, 2020 (154)
77	HGDP-CEPH-db Supplement 1	NC_000008.9 - 125645862	Apr 26, 2020 (154)
78	HapMap	NC_000008.11 - 124564440	Apr 26, 2020 (154)
79	KOREAN population from KRGDB	NC_000008.10 - 125576681	Apr 26, 2020 (154)
80	Northern Sweden	NC_000008.10 - 125576681	Jul 13, 2019 (153)
81	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 125576681	Apr 26, 2021 (155)
82	Qatari	NC_000008.10 - 125576681	Apr 26, 2020 (154)
83	SGDP_PRJ	NC_000008.10 - 125576681	Apr 26, 2020 (154)
84	Siberian	NC_000008.10 - 125576681	Apr 26, 2020 (154)
85	8.3KJPN	NC_000008.10 - 125576681	Apr 26, 2021 (155)
86	14KJPN	NC_000008.11 - 124564440	Oct 16, 2022 (156)
87	TopMed	NC_000008.11 - 124564440	Apr 26, 2021 (155)
88	UK 10K study - Twins	NC_000008.10 - 125576681	Oct 12, 2018 (152)
89	A Vietnamese Genetic Variation Database	NC_000008.10 - 125576681	Jul 13, 2019 (153)
90	ALFA	NC_000008.11 - 124564440	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)
rs58606253	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
512387, 607011, ss162767612, ss1397538740, ss1595649743, ss1713069227, ss3639395329, ss3639990647, ss3643714232, ss3644033873, ss3847929119	NC_000008.9:125645861:G:A	NC_000008.11:124564439:G:A	(self)
44022168, 24491860, 17424496, 9041757, 10930486, 25726136, 9367279, 613455, 11348208, 22967060, 6101725, 48875511, 24491860, 5441491, ss223966014, ss234618872, ss536963023, ss561054432, ss655490658, ss832827426, ss986034247, ss1075899915, ss1331825675, ss1431664123, ss1582876820, ss1621681884, ss1664675917, ss1929306278, ss2025356973, ss2153585371, ss2872465175, ss3003964343, ss3348394539, ss3630154013, ss3638785056, ss3671686248, ss3736082414, ss3768582229, ss3786273758, ss3791507787, ss3796389316, ss3831402932, ss3870950080, ss3918548742, ss3985387528, ss5190906204, ss5384320488, ss5509544680, ss5646370815, ss5831194510, ss5975619799	NC_000008.10:125576680:G:A	NC_000008.11:124564439:G:A	(self)
57688342, 310563670, 3720324, 67441688, 640892601, 12401882775, ss2307203484, ss3026463848, ss3722965694, ss3811748219, ss4803515041, ss5278865993, ss5475256066, ss5570162407, ss5733604584, ss5856563089, ss5890941519	NC_000008.11:124564439:G:A	NC_000008.11:124564439:G:A	(self)
ss24533335, ss67183333, ss67554186, ss68179130, ss70661382, ss71222608, ss75779895, ss85380220, ss153662978, ss159315380, ss172804499	NT_008046.16:38850229:G:A	NC_000008.11:124564439:G:A	(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 rs17299208

PMID	Title	Author	Year	Journal
19064571	Polymorphisms in mitochondrial genes and prostate cancer risk.	Wang L et al.	2008	Cancer epidemiology, biomarkers & prevention

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

rs17299208