Name: rs201059528
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.

rs201059528

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:10959870-10959884 (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(A)₁₂ / del(A)₅ / del(A)₄ / del…
del(A)₁₂ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₂=0.000004 (1/264690, TOPMED)
dupA=0.2606 (1305/5008, 1000G)
del(A)₁₂=0.0000 (0/3480, ALFA) (+ 10 more)
del(A)₅=0.0000 (0/3480, ALFA)
del(A)₄=0.0000 (0/3480, ALFA)
delAAA=0.0000 (0/3480, ALFA)
delAA=0.0000 (0/3480, ALFA)
delA=0.0000 (0/3480, ALFA)
dupA=0.0000 (0/3480, ALFA)
dupAA=0.0000 (0/3480, ALFA)
dupAAA=0.0000 (0/3480, ALFA)
dup(A)₄=0.0000 (0/3480, ALFA)
dup(A)₅=0.0000 (0/3480, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SYCP2L : 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	3480	AAAAAAAAAAAAAAA=1.0000	AAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	2280	AAAAAAAAAAAAAAA=1.0000	AAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	976	AAAAAAAAAAAAAAA=1.000	AAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	48	AAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	928	AAAAAAAAAAAAAAA=1.000	AAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	28	AAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	76	AAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	12	AAAAAAAAAAAAAAA=1.00	AAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	108	AAAAAAAAAAAAAAA=1.000	AAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

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	(A)₁₅=0.999996	del(A)₁₂=0.000004
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.2606
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.2216
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.2768
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.2555
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.288
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.280
Allele Frequency Aggregator	Total	Global	3480	(A)₁₅=1.0000	del(A)₁₂=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	2280	(A)₁₅=1.0000	del(A)₁₂=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	976	(A)₁₅=1.000	del(A)₁₂=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	108	(A)₁₅=1.000	del(A)₁₂=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	76	(A)₁₅=1.00	del(A)₁₂=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	28	(A)₁₅=1.00	del(A)₁₂=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	12	(A)₁₅=1.00	del(A)₁₂=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₅=0	del(A)₁₂=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0

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.10959873_10959884del
GRCh38.p14 chr 6	NC_000006.12:g.10959880_10959884del
GRCh38.p14 chr 6	NC_000006.12:g.10959881_10959884del
GRCh38.p14 chr 6	NC_000006.12:g.10959882_10959884del
GRCh38.p14 chr 6	NC_000006.12:g.10959883_10959884del
GRCh38.p14 chr 6	NC_000006.12:g.10959884del
GRCh38.p14 chr 6	NC_000006.12:g.10959884dup
GRCh38.p14 chr 6	NC_000006.12:g.10959883_10959884dup
GRCh38.p14 chr 6	NC_000006.12:g.10959882_10959884dup
GRCh38.p14 chr 6	NC_000006.12:g.10959881_10959884dup
GRCh38.p14 chr 6	NC_000006.12:g.10959880_10959884dup
GRCh38.p14 chr 6	NC_000006.12:g.10959878_10959884dup
GRCh37.p13 chr 6	NC_000006.11:g.10960106_10960117del
GRCh37.p13 chr 6	NC_000006.11:g.10960113_10960117del
GRCh37.p13 chr 6	NC_000006.11:g.10960114_10960117del
GRCh37.p13 chr 6	NC_000006.11:g.10960115_10960117del
GRCh37.p13 chr 6	NC_000006.11:g.10960116_10960117del
GRCh37.p13 chr 6	NC_000006.11:g.10960117del
GRCh37.p13 chr 6	NC_000006.11:g.10960117dup
GRCh37.p13 chr 6	NC_000006.11:g.10960116_10960117dup
GRCh37.p13 chr 6	NC_000006.11:g.10960115_10960117dup
GRCh37.p13 chr 6	NC_000006.11:g.10960114_10960117dup
GRCh37.p13 chr 6	NC_000006.11:g.10960113_10960117dup
GRCh37.p13 chr 6	NC_000006.11:g.10960111_10960117dup

Gene: SYCP2L, synaptonemal complex protein 2 like (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SYCP2L transcript	NM_001040274.3:c.2255+998… NM_001040274.3:c.2255+998_2255+1009del	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	(A)₁₅=	del(A)₁₂	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₇
GRCh38.p14 chr 6	NC_000006.12:g.10959870_10959884=	NC_000006.12:g.10959873_10959884del	NC_000006.12:g.10959880_10959884del	NC_000006.12:g.10959881_10959884del	NC_000006.12:g.10959882_10959884del	NC_000006.12:g.10959883_10959884del	NC_000006.12:g.10959884del	NC_000006.12:g.10959884dup	NC_000006.12:g.10959883_10959884dup	NC_000006.12:g.10959882_10959884dup	NC_000006.12:g.10959881_10959884dup	NC_000006.12:g.10959880_10959884dup	NC_000006.12:g.10959878_10959884dup
GRCh37.p13 chr 6	NC_000006.11:g.10960103_10960117=	NC_000006.11:g.10960106_10960117del	NC_000006.11:g.10960113_10960117del	NC_000006.11:g.10960114_10960117del	NC_000006.11:g.10960115_10960117del	NC_000006.11:g.10960116_10960117del	NC_000006.11:g.10960117del	NC_000006.11:g.10960117dup	NC_000006.11:g.10960116_10960117dup	NC_000006.11:g.10960115_10960117dup	NC_000006.11:g.10960114_10960117dup	NC_000006.11:g.10960113_10960117dup	NC_000006.11:g.10960111_10960117dup
SYCP2L transcript	NM_001040274.2:c.2255+995=	NM_001040274.2:c.2255+998_2255+1009del	NM_001040274.2:c.2255+1005_2255+1009del	NM_001040274.2:c.2255+1006_2255+1009del	NM_001040274.2:c.2255+1007_2255+1009del	NM_001040274.2:c.2255+1008_2255+1009del	NM_001040274.2:c.2255+1009del	NM_001040274.2:c.2255+1009dup	NM_001040274.2:c.2255+1008_2255+1009dup	NM_001040274.2:c.2255+1007_2255+1009dup	NM_001040274.2:c.2255+1006_2255+1009dup	NM_001040274.2:c.2255+1005_2255+1009dup	NM_001040274.2:c.2255+1003_2255+1009dup
SYCP2L transcript	NM_001040274.3:c.2255+995=	NM_001040274.3:c.2255+998_2255+1009del	NM_001040274.3:c.2255+1005_2255+1009del	NM_001040274.3:c.2255+1006_2255+1009del	NM_001040274.3:c.2255+1007_2255+1009del	NM_001040274.3:c.2255+1008_2255+1009del	NM_001040274.3:c.2255+1009del	NM_001040274.3:c.2255+1009dup	NM_001040274.3:c.2255+1008_2255+1009dup	NM_001040274.3:c.2255+1007_2255+1009dup	NM_001040274.3:c.2255+1006_2255+1009dup	NM_001040274.3:c.2255+1005_2255+1009dup	NM_001040274.3:c.2255+1003_2255+1009dup

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#.

55 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82708173	Oct 12, 2018 (152)
2	GMI	ss288683564	May 04, 2012 (137)
3	1000GENOMES	ss1375125287	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1705039365	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1705039367	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1705039506	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1705039509	Apr 01, 2015 (144)
8	SWEGEN	ss2998513759	Nov 08, 2017 (151)
9	EVA_DECODE	ss3716581262	Jul 13, 2019 (153)
10	EVA_DECODE	ss3716581263	Jul 13, 2019 (153)
11	EVA_DECODE	ss3716581264	Jul 13, 2019 (153)
12	EVA_DECODE	ss3716581265	Jul 13, 2019 (153)
13	EVA_DECODE	ss3716581266	Jul 13, 2019 (153)
14	EVA_DECODE	ss3716581267	Jul 13, 2019 (153)
15	INMEGENXS	ss3745680585	Jul 13, 2019 (153)
16	PACBIO	ss3790738692	Jul 13, 2019 (153)
17	PACBIO	ss3795615942	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3807773763	Jul 13, 2019 (153)
19	EVA	ss3829732454	Apr 26, 2020 (154)
20	EVA	ss3838341477	Apr 26, 2020 (154)
21	EVA	ss3843781713	Apr 26, 2020 (154)
22	GNOMAD	ss4136875678	Apr 26, 2021 (155)
23	GNOMAD	ss4136875679	Apr 26, 2021 (155)
24	GNOMAD	ss4136875680	Apr 26, 2021 (155)
25	GNOMAD	ss4136875681	Apr 26, 2021 (155)
26	GNOMAD	ss4136875682	Apr 26, 2021 (155)
27	GNOMAD	ss4136875683	Apr 26, 2021 (155)
28	GNOMAD	ss4136875684	Apr 26, 2021 (155)
29	GNOMAD	ss4136875685	Apr 26, 2021 (155)
30	GNOMAD	ss4136875686	Apr 26, 2021 (155)
31	GNOMAD	ss4136875687	Apr 26, 2021 (155)
32	GNOMAD	ss4136875688	Apr 26, 2021 (155)
33	GNOMAD	ss4136875689	Apr 26, 2021 (155)
34	TOPMED	ss4693580073	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5176150712	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5176150713	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5176150714	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5176150715	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5176150716	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5267395891	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5267395892	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5267395893	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5267395894	Oct 13, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5267395895	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5465186801	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5465186802	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5465186803	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5465186804	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5465186805	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5713813439	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5713813440	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5713813441	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5713813442	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5713813443	Oct 13, 2022 (156)
55	EVA	ss5980343518	Oct 13, 2022 (156)
56	1000Genomes	NC_000006.11 - 10960103	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17098141 (NC_000006.11:10960102::AA 413/3854) Row 17098142 (NC_000006.11:10960102::AAA 569/3854)	-	Oct 12, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17098141 (NC_000006.11:10960102::AA 413/3854) Row 17098142 (NC_000006.11:10960102::AAA 569/3854)	-	Oct 12, 2018 (152)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 217038054 (NC_000006.12:10959869::A 31973/115678) Row 217038055 (NC_000006.12:10959869::AA 3908/115810) Row 217038056 (NC_000006.12:10959869::AAA 16971/115458)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 34120019 (NC_000006.11:10960102::A 5136/16346) Row 34120020 (NC_000006.11:10960102::AAA 6680/16346) Row 34120021 (NC_000006.11:10960102:A: 2878/16346)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 34120019 (NC_000006.11:10960102::A 5136/16346) Row 34120020 (NC_000006.11:10960102::AAA 6680/16346) Row 34120021 (NC_000006.11:10960102:A: 2878/16346)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 34120019 (NC_000006.11:10960102::A 5136/16346) Row 34120020 (NC_000006.11:10960102::AAA 6680/16346) Row 34120021 (NC_000006.11:10960102:A: 2878/16346)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 34120019 (NC_000006.11:10960102::A 5136/16346) Row 34120020 (NC_000006.11:10960102::AAA 6680/16346) Row 34120021 (NC_000006.11:10960102:A: 2878/16346)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 34120019 (NC_000006.11:10960102::A 5136/16346) Row 34120020 (NC_000006.11:10960102::AAA 6680/16346) Row 34120021 (NC_000006.11:10960102:A: 2878/16346)...	-	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 47650543 (NC_000006.12:10959869::A 8793/27936) Row 47650544 (NC_000006.12:10959869::AAAA 422/27936) Row 47650545 (NC_000006.12:10959869::AAA 10980/27936)...	-	Oct 13, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 47650543 (NC_000006.12:10959869::A 8793/27936) Row 47650544 (NC_000006.12:10959869::AAAA 422/27936) Row 47650545 (NC_000006.12:10959869::AAA 10980/27936)...	-	Oct 13, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 47650543 (NC_000006.12:10959869::A 8793/27936) Row 47650544 (NC_000006.12:10959869::AAAA 422/27936) Row 47650545 (NC_000006.12:10959869::AAA 10980/27936)...	-	Oct 13, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 47650543 (NC_000006.12:10959869::A 8793/27936) Row 47650544 (NC_000006.12:10959869::AAAA 422/27936) Row 47650545 (NC_000006.12:10959869::AAA 10980/27936)...	-	Oct 13, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 47650543 (NC_000006.12:10959869::A 8793/27936) Row 47650544 (NC_000006.12:10959869::AAAA 422/27936) Row 47650545 (NC_000006.12:10959869::AAA 10980/27936)...	-	Oct 13, 2022 (156)
81	TopMed	NC_000006.12 - 10959870	Apr 26, 2021 (155)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17098141 (NC_000006.11:10960102::AA 344/3708) Row 17098142 (NC_000006.11:10960102::AAA 555/3708)	-	Oct 12, 2018 (152)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17098141 (NC_000006.11:10960102::AA 344/3708) Row 17098142 (NC_000006.11:10960102::AAA 555/3708)	-	Oct 12, 2018 (152)
84	ALFA	NC_000006.12 - 10959870	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
530957631, ss4136875689, ss4693580073	NC_000006.12:10959869:AAAAAAAAAAAA:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAA	(self)
ss4136875688	NC_000006.12:10959869:AAAAA:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4136875687	NC_000006.12:10959869:AAAA:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4136875686	NC_000006.12:10959869:AAA:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3716581267, ss4136875685	NC_000006.12:10959869:AA:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288683564	NC_000006.10:11068088:A:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss2998513759, ss5176150714	NC_000006.11:10960102:A:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4136875684, ss5267395893, ss5465186801, ss5713813442	NC_000006.12:10959869:A:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3716581266	NC_000006.12:10959870:A:	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
30707113, ss1375125287, ss3790738692, ss3795615942, ss3829732454, ss3838341477, ss5176150712	NC_000006.11:10960102::A	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3807773763, ss3843781713, ss4136875678, ss5267395891, ss5465186802, ss5713813439	NC_000006.12:10959869::A	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3716581265	NC_000006.12:10959871::A	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss82708173	NT_007592.15:10900117::A	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1705039365, ss1705039506, ss5176150716	NC_000006.11:10960102::AA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4136875679, ss5267395894, ss5465186805, ss5713813443	NC_000006.12:10959869::AA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3716581264	NC_000006.12:10959871::AA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1705039367, ss1705039509, ss3745680585, ss5176150713, ss5980343518	NC_000006.11:10960102::AAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4136875680, ss5267395892, ss5465186804, ss5713813441	NC_000006.12:10959869::AAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3716581263	NC_000006.12:10959871::AAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5176150715	NC_000006.11:10960102::AAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4136875681, ss5267395895, ss5465186803, ss5713813440	NC_000006.12:10959869::AAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3716581262	NC_000006.12:10959871::AAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4136875682	NC_000006.12:10959869::AAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6292585069	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4136875683	NC_000006.12:10959869::AAAAAAA	NC_000006.12:10959869:AAAAAAAAAAAA… NC_000006.12:10959869:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(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 rs201059528

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

rs201059528