Name: rs58570071
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.

rs58570071

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:16293017-16293039 (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: del(CT)₄ / del(CT)₃ / delCTCT / de…
del(CT)₄ / del(CT)₃ / delCTCT / delCT / dupCT / dupCTCT / dup(CT)₃ / dup(CT)₅ / dup(CT)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupCT=0.07334 (952/12980, ALFA)
delCTCT=0.0072 (27/3769, 1000G)
dupCT=0.233 (140/600, NorthernSweden) (+ 1 more)
dupCT=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GMPR : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	12980	TCTCTCTCTCTCTCTCTCTCTCT=0.92635	TCTCTCTCTCTCTCT=0.00008, TCTCTCTCTCTCTCTCT=0.00000, TCTCTCTCTCTCTCTCTCT=0.00008, TCTCTCTCTCTCTCTCTCTCT=0.00008, TCTCTCTCTCTCTCTCTCTCTCTCT=0.07334, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00008, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00000	0.871107	0.01773	0.111163	32
European	Sub	10094	TCTCTCTCTCTCTCTCTCTCTCT=0.90539	TCTCTCTCTCTCTCT=0.00010, TCTCTCTCTCTCTCTCT=0.00000, TCTCTCTCTCTCTCTCTCT=0.00010, TCTCTCTCTCTCTCTCTCTCT=0.00010, TCTCTCTCTCTCTCTCTCTCTCTCT=0.09421, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00010, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00000	0.834424	0.022804	0.142772	32
African	Sub	2014	TCTCTCTCTCTCTCTCTCTCTCT=1.0000	TCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	82	TCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1932	TCTCTCTCTCTCTCTCTCTCTCT=1.0000	TCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	22	TCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	14	TCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	TCTCTCTCTCTCTCTCTCTCTCT=1.0	TCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	94	TCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	378	TCTCTCTCTCTCTCTCTCTCTCT=1.000	TCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	34	TCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	1.0	0.0	0.0	N/A
Other	Sub	344	TCTCTCTCTCTCTCTCTCTCTCT=0.997	TCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCT=0.003, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.000	0.994186	0.0	0.005814	0

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	12980	(TC)₁₁T=0.92635	del(CT)₄=0.00008, del(CT)₃=0.00000, delCTCT=0.00008, delCT=0.00008, dupCT=0.07334, dupCTCT=0.00008, dup(CT)₃=0.00000, dup(CT)₇=0.00000
Allele Frequency Aggregator	European	Sub	10094	(TC)₁₁T=0.90539	del(CT)₄=0.00010, del(CT)₃=0.00000, delCTCT=0.00010, delCT=0.00010, dupCT=0.09421, dupCTCT=0.00010, dup(CT)₃=0.00000, dup(CT)₇=0.00000
Allele Frequency Aggregator	African	Sub	2014	(TC)₁₁T=1.0000	del(CT)₄=0.0000, del(CT)₃=0.0000, delCTCT=0.0000, delCT=0.0000, dupCT=0.0000, dupCTCT=0.0000, dup(CT)₃=0.0000, dup(CT)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	378	(TC)₁₁T=1.000	del(CT)₄=0.000, del(CT)₃=0.000, delCTCT=0.000, delCT=0.000, dupCT=0.000, dupCTCT=0.000, dup(CT)₃=0.000, dup(CT)₇=0.000
Allele Frequency Aggregator	Other	Sub	344	(TC)₁₁T=0.997	del(CT)₄=0.000, del(CT)₃=0.000, delCTCT=0.000, delCT=0.000, dupCT=0.003, dupCTCT=0.000, dup(CT)₃=0.000, dup(CT)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(TC)₁₁T=1.00	del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00, dup(CT)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	34	(TC)₁₁T=1.00	del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00, dup(CT)₇=0.00
Allele Frequency Aggregator	Asian	Sub	22	(TC)₁₁T=1.00	del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00, dup(CT)₇=0.00
1000Genomes	Global	Study-wide	3769	(TC)₁₁T=0.9928	delCTCT=0.0072
1000Genomes	African	Sub	1175	(TC)₁₁T=0.9847	delCTCT=0.0153
1000Genomes	Europe	Sub	863	(TC)₁₁T=0.999	delCTCT=0.001
1000Genomes	South Asian	Sub	711	(TC)₁₁T=0.996	delCTCT=0.004
1000Genomes	American	Sub	569	(TC)₁₁T=0.991	delCTCT=0.009
1000Genomes	East Asian	Sub	451	(TC)₁₁T=1.000	delCTCT=0.000
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupCT=0.233
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupCT=0.20

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.16293018CT[7]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[8]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[9]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[10]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[12]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[13]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[14]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[16]
GRCh38.p14 chr 6	NC_000006.12:g.16293018CT[18]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[7]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[8]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[9]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[10]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[12]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[13]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[14]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[16]
GRCh37.p13 chr 6	NC_000006.11:g.16293249CT[18]
GMPR RefSeqGene	NG_013303.1:g.59439CT[7]
GMPR RefSeqGene	NG_013303.1:g.59439CT[8]
GMPR RefSeqGene	NG_013303.1:g.59439CT[9]
GMPR RefSeqGene	NG_013303.1:g.59439CT[10]
GMPR RefSeqGene	NG_013303.1:g.59439CT[12]
GMPR RefSeqGene	NG_013303.1:g.59439CT[13]
GMPR RefSeqGene	NG_013303.1:g.59439CT[14]
GMPR RefSeqGene	NG_013303.1:g.59439CT[16]
GMPR RefSeqGene	NG_013303.1:g.59439CT[18]

Gene: GMPR, guanosine monophosphate reductase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GMPR transcript	NM_006877.4:c.858-1989TC[… NM_006877.4:c.858-1989TC[7]	N/A	Intron Variant
GMPR transcript variant X1	XM_047418656.1:c.	N/A	Genic Downstream 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	(TC)₁₁T=	del(CT)₄	del(CT)₃	delCTCT	delCT	dupCT	dupCTCT	dup(CT)₃	dup(CT)₅	dup(CT)₇
GRCh38.p14 chr 6	NC_000006.12:g.16293017_16293039=	NC_000006.12:g.16293018CT[7]	NC_000006.12:g.16293018CT[8]	NC_000006.12:g.16293018CT[9]	NC_000006.12:g.16293018CT[10]	NC_000006.12:g.16293018CT[12]	NC_000006.12:g.16293018CT[13]	NC_000006.12:g.16293018CT[14]	NC_000006.12:g.16293018CT[16]	NC_000006.12:g.16293018CT[18]
GRCh37.p13 chr 6	NC_000006.11:g.16293248_16293270=	NC_000006.11:g.16293249CT[7]	NC_000006.11:g.16293249CT[8]	NC_000006.11:g.16293249CT[9]	NC_000006.11:g.16293249CT[10]	NC_000006.11:g.16293249CT[12]	NC_000006.11:g.16293249CT[13]	NC_000006.11:g.16293249CT[14]	NC_000006.11:g.16293249CT[16]	NC_000006.11:g.16293249CT[18]
GMPR RefSeqGene	NG_013303.1:g.59438_59460=	NG_013303.1:g.59439CT[7]	NG_013303.1:g.59439CT[8]	NG_013303.1:g.59439CT[9]	NG_013303.1:g.59439CT[10]	NG_013303.1:g.59439CT[12]	NG_013303.1:g.59439CT[13]	NG_013303.1:g.59439CT[14]	NG_013303.1:g.59439CT[16]	NG_013303.1:g.59439CT[18]
GMPR transcript	NM_006877.3:c.858-1989=	NM_006877.3:c.858-1989TC[7]	NM_006877.3:c.858-1989TC[8]	NM_006877.3:c.858-1989TC[9]	NM_006877.3:c.858-1989TC[10]	NM_006877.3:c.858-1989TC[12]	NM_006877.3:c.858-1989TC[13]	NM_006877.3:c.858-1989TC[14]	NM_006877.3:c.858-1989TC[16]	NM_006877.3:c.858-1989TC[18]
GMPR transcript	NM_006877.4:c.858-1989=	NM_006877.4:c.858-1989TC[7]	NM_006877.4:c.858-1989TC[8]	NM_006877.4:c.858-1989TC[9]	NM_006877.4:c.858-1989TC[10]	NM_006877.4:c.858-1989TC[12]	NM_006877.4:c.858-1989TC[13]	NM_006877.4:c.858-1989TC[14]	NM_006877.4:c.858-1989TC[16]	NM_006877.4:c.858-1989TC[18]

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#.

64 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82043718	Dec 04, 2013 (138)
2	BUSHMAN	ss193847742	Jul 04, 2010 (138)
3	GMI	ss288686018	May 04, 2012 (137)
4	1000GENOMES	ss326770562	May 09, 2011 (134)
5	1000GENOMES	ss326817122	May 09, 2011 (134)
6	1000GENOMES	ss327057588	May 09, 2011 (134)
7	LUNTER	ss551586741	Apr 25, 2013 (138)
8	LUNTER	ss553235594	Apr 25, 2013 (138)
9	SSMP	ss663672066	Apr 01, 2015 (144)
10	BILGI_BIOE	ss666344289	Apr 25, 2013 (138)
11	1000GENOMES	ss1375173742	Aug 21, 2014 (142)
12	1000GENOMES	ss1375173743	Aug 21, 2014 (142)
13	EVA_GENOME_DK	ss1576689850	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1705055928	Jan 10, 2018 (151)
15	EVA_UK10K_TWINSUK	ss1705056119	Jan 10, 2018 (151)
16	EVA_UK10K_ALSPAC	ss1710255187	Oct 12, 2018 (152)
17	EVA_UK10K_TWINSUK	ss1710255192	Oct 12, 2018 (152)
18	HAMMER_LAB	ss1804298540	Sep 08, 2015 (146)
19	HAMMER_LAB	ss1804298541	Jan 10, 2018 (151)
20	SWEGEN	ss2998576705	Nov 08, 2017 (151)
21	SWEGEN	ss2998576706	Nov 08, 2017 (151)
22	SWEGEN	ss2998576707	Nov 08, 2017 (151)
23	MCHAISSO	ss3064193644	Nov 08, 2017 (151)
24	EVA_DECODE	ss3716660350	Jul 13, 2019 (153)
25	EVA_DECODE	ss3716660351	Jul 13, 2019 (153)
26	EVA_DECODE	ss3716660352	Jul 13, 2019 (153)
27	EVA_DECODE	ss3716660353	Jul 13, 2019 (153)
28	ACPOP	ss3733237999	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3807822313	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3807822314	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3807822315	Jul 13, 2019 (153)
32	EVA	ss3829753209	Apr 26, 2020 (154)
33	EVA	ss3838352300	Apr 26, 2020 (154)
34	EVA	ss3843792763	Apr 26, 2020 (154)
35	GNOMAD	ss4137532571	Apr 26, 2021 (155)
36	GNOMAD	ss4137532572	Apr 26, 2021 (155)
37	GNOMAD	ss4137532573	Apr 26, 2021 (155)
38	GNOMAD	ss4137532574	Apr 26, 2021 (155)
39	GNOMAD	ss4137532575	Apr 26, 2021 (155)
40	GNOMAD	ss4137532576	Apr 26, 2021 (155)
41	GNOMAD	ss4137532577	Apr 26, 2021 (155)
42	GNOMAD	ss4137532578	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5176326313	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5176326314	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5176326315	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5176326316	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5176326317	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5267533537	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5267533538	Oct 13, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5267533539	Oct 13, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5267533540	Oct 13, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5267533541	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5465313507	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5465313508	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5465313509	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5714039338	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5714039339	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5714039340	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5714039341	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5714039342	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5714039343	Oct 13, 2022 (156)
62	YY_MCH	ss5807183862	Oct 13, 2022 (156)
63	EVA	ss5841846131	Oct 13, 2022 (156)
64	EVA	ss5841846132	Oct 13, 2022 (156)
65	1000Genomes	NC_000006.11 - 16293248	Oct 12, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17192920 (NC_000006.11:16293247::TC 567/3854) Row 17192921 (NC_000006.11:16293247:TC: 204/3854)	-	Oct 12, 2018 (152)
67	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17192920 (NC_000006.11:16293247::TC 567/3854) Row 17192921 (NC_000006.11:16293247:TC: 204/3854)	-	Oct 12, 2018 (152)
68	The Danish reference pan genome	NC_000006.11 - 16293248	Apr 26, 2020 (154)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 218143250 (NC_000006.12:16293016::TC 22799/137924) Row 218143251 (NC_000006.12:16293016::TCTC 96/138030) Row 218143252 (NC_000006.12:16293016::TCTCTC 13/138036)...	-	Apr 26, 2021 (155)
77	Northern Sweden	NC_000006.11 - 16293248	Jul 13, 2019 (153)
78	8.3KJPN Submission ignored due to conflicting rows: Row 34295620 (NC_000006.11:16293247::TC 11519/16760) Row 34295621 (NC_000006.11:16293247:TC: 45/16760) Row 34295622 (NC_000006.11:16293247::TCTC 72/16760)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 34295620 (NC_000006.11:16293247::TC 11519/16760) Row 34295621 (NC_000006.11:16293247:TC: 45/16760) Row 34295622 (NC_000006.11:16293247::TCTC 72/16760)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 34295620 (NC_000006.11:16293247::TC 11519/16760) Row 34295621 (NC_000006.11:16293247:TC: 45/16760) Row 34295622 (NC_000006.11:16293247::TCTC 72/16760)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 34295620 (NC_000006.11:16293247::TC 11519/16760) Row 34295621 (NC_000006.11:16293247:TC: 45/16760) Row 34295622 (NC_000006.11:16293247::TCTC 72/16760)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 34295620 (NC_000006.11:16293247::TC 11519/16760) Row 34295621 (NC_000006.11:16293247:TC: 45/16760) Row 34295622 (NC_000006.11:16293247::TCTC 72/16760)...	-	Apr 26, 2021 (155)
83	14KJPN Submission ignored due to conflicting rows: Row 47876442 (NC_000006.12:16293016::TC 19513/28258) Row 47876443 (NC_000006.12:16293016::TCTC 110/28258) Row 47876444 (NC_000006.12:16293016:TC: 70/28258)...	-	Oct 13, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 47876442 (NC_000006.12:16293016::TC 19513/28258) Row 47876443 (NC_000006.12:16293016::TCTC 110/28258) Row 47876444 (NC_000006.12:16293016:TC: 70/28258)...	-	Oct 13, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 47876442 (NC_000006.12:16293016::TC 19513/28258) Row 47876443 (NC_000006.12:16293016::TCTC 110/28258) Row 47876444 (NC_000006.12:16293016:TC: 70/28258)...	-	Oct 13, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 47876442 (NC_000006.12:16293016::TC 19513/28258) Row 47876443 (NC_000006.12:16293016::TCTC 110/28258) Row 47876444 (NC_000006.12:16293016:TC: 70/28258)...	-	Oct 13, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 47876442 (NC_000006.12:16293016::TC 19513/28258) Row 47876443 (NC_000006.12:16293016::TCTC 110/28258) Row 47876444 (NC_000006.12:16293016:TC: 70/28258)...	-	Oct 13, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 47876442 (NC_000006.12:16293016::TC 19513/28258) Row 47876443 (NC_000006.12:16293016::TCTC 110/28258) Row 47876444 (NC_000006.12:16293016:TC: 70/28258)...	-	Oct 13, 2022 (156)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17192920 (NC_000006.11:16293247::TC 518/3708) Row 17192921 (NC_000006.11:16293247:TC: 178/3708)	-	Oct 12, 2018 (152)
90	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17192920 (NC_000006.11:16293247::TC 518/3708) Row 17192921 (NC_000006.11:16293247:TC: 178/3708)	-	Oct 12, 2018 (152)
91	ALFA	NC_000006.12 - 16293017	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)
rs71698863	May 15, 2013 (138)
rs71949740	May 11, 2012 (137)
rs111615731	May 04, 2012 (137)
rs149696597	May 11, 2012 (137)
rs796698259	Nov 08, 2017 (151)
rs569703794	Apr 01, 2015 (144)
rs927657524	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4137532578	NC_000006.12:16293016:TCTCTCTC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	(self)
ss5176326317	NC_000006.11:16293247:TCTCTC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
ss4137532577, ss5267533541, ss5714039341	NC_000006.12:16293016:TCTCTC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
30868811, ss1375173742	NC_000006.11:16293247:TCTC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3716660350, ss3807822313, ss4137532576, ss5267533539, ss5465313509, ss5714039343	NC_000006.12:16293016:TCTC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss1705055928, ss1705056119, ss1804298541, ss5176326314, ss5841846132	NC_000006.11:16293247:TC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss4137532575, ss5267533540, ss5465313507, ss5714039340	NC_000006.12:16293016:TC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss3716660351	NC_000006.12:16293018:TC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss193847742	NT_007592.16:16233016:TC:	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss326770562, ss326817122, ss327057588, ss551586741, ss553235594	NC_000006.10:16401226::TC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss288686018	NC_000006.10:16401249::CT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
1056644, 6522864, ss663672066, ss666344289, ss1576689850, ss1804298540, ss2998576705, ss3733237999, ss3829753209, ss3838352300, ss5176326313, ss5841846131	NC_000006.11:16293247::TC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss1710255187, ss1710255192	NC_000006.11:16293249::TC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss1375173743	NC_000006.11:16293251::TC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3064193644, ss3807822314, ss3843792763, ss4137532571, ss5267533537, ss5465313508, ss5714039338, ss5807183862	NC_000006.12:16293016::TC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3716660352, ss3807822315	NC_000006.12:16293020::TC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss82043718	NT_007592.15:16233270::CT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss2998576706, ss5176326315	NC_000006.11:16293247::TCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4137532572, ss5267533538, ss5714039339	NC_000006.12:16293016::TCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss2998576707	NC_000006.11:16293247::TCTCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4137532573	NC_000006.12:16293016::TCTCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3716660353	NC_000006.12:16293020::TCTCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss5176326316	NC_000006.11:16293247::TCTCTCTCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss5714039342	NC_000006.12:16293016::TCTCTCTCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
ss4137532574	NC_000006.12:16293016::TCTCTCTCTCT… NC_000006.12:16293016::TCTCTCTCTCTCTC	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
9131121502	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000006.12:16293016:TCTCTCTCTCTC… NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(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 rs58570071

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs58570071