Name: rs60207053
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.

rs60207053

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:112079422-112079436 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dup(A)₅ / dup(A)₆ / dup(A)₁₀ / dup(A)₁₁ / ins(A)₁₈ / ins(A)₂₂
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.05866 (635/10826, ALFA)
dupA=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TUBE1 : 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	10826	AAAAAAAAAAAAAAA=0.93590	AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.05866, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00083, AAAAAAAAAAAAAAAAAAAAA=0.00148, AAAAAAAAAAAAAAAAAAAA=0.00286, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00028, AAAAAAAAAAAAAAAAA=0.00000	0.897891	0.01568	0.086429	32
European	Sub	8254	AAAAAAAAAAAAAAA=0.9163	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0766, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0011, AAAAAAAAAAAAAAAAAAAAA=0.0019, AAAAAAAAAAAAAAAAAAAA=0.0038, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAA=0.0000	0.866372	0.020634	0.112994	32
African	Sub	1758	AAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	70	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1688	AAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	82	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	62	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	84	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	326	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	58	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	264	AAAAAAAAAAAAAAA=0.989	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.011, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	0.977273	0.0	0.022727	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	10826	(A)₁₅=0.93590	delAA=0.00000, delA=0.00000, dupA=0.05866, dupAA=0.00000, dup(A)₅=0.00286, dup(A)₆=0.00148, dup(A)₁₀=0.00083, ins(A)₁₈=0.00028
Allele Frequency Aggregator	European	Sub	8254	(A)₁₅=0.9163	delAA=0.0000, delA=0.0000, dupA=0.0766, dupAA=0.0000, dup(A)₅=0.0038, dup(A)₆=0.0019, dup(A)₁₀=0.0011, ins(A)₁₈=0.0004
Allele Frequency Aggregator	African	Sub	1758	(A)₁₅=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₁₀=0.0000, ins(A)₁₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	326	(A)₁₅=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₁₀=0.000, ins(A)₁₈=0.000
Allele Frequency Aggregator	Other	Sub	264	(A)₁₅=0.989	delAA=0.000, delA=0.000, dupA=0.011, dupAA=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₁₀=0.000, ins(A)₁₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₁₀=0.00, ins(A)₁₈=0.00
Allele Frequency Aggregator	Asian	Sub	82	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₁₀=0.00, ins(A)₁₈=0.00
Allele Frequency Aggregator	South Asian	Sub	58	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₁₀=0.00, ins(A)₁₈=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.38

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.112079434_112079436del
GRCh38.p14 chr 6	NC_000006.12:g.112079435_112079436del
GRCh38.p14 chr 6	NC_000006.12:g.112079436del
GRCh38.p14 chr 6	NC_000006.12:g.112079436dup
GRCh38.p14 chr 6	NC_000006.12:g.112079435_112079436dup
GRCh38.p14 chr 6	NC_000006.12:g.112079432_112079436dup
GRCh38.p14 chr 6	NC_000006.12:g.112079431_112079436dup
GRCh38.p14 chr 6	NC_000006.12:g.112079427_112079436dup
GRCh38.p14 chr 6	NC_000006.12:g.112079426_112079436dup
GRCh38.p14 chr 6	NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6	NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76956_76958del
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76957_76958del
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76958del
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76958dup
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76957_76958dup
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76954_76958dup
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76953_76958dup
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76949_76958dup
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76948_76958dup
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6	NC_000006.11:g.112400637_112400639del
GRCh37.p13 chr 6	NC_000006.11:g.112400638_112400639del
GRCh37.p13 chr 6	NC_000006.11:g.112400639del
GRCh37.p13 chr 6	NC_000006.11:g.112400639dup
GRCh37.p13 chr 6	NC_000006.11:g.112400638_112400639dup
GRCh37.p13 chr 6	NC_000006.11:g.112400635_112400639dup
GRCh37.p13 chr 6	NC_000006.11:g.112400634_112400639dup
GRCh37.p13 chr 6	NC_000006.11:g.112400630_112400639dup
GRCh37.p13 chr 6	NC_000006.11:g.112400629_112400639dup
GRCh37.p13 chr 6	NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6	NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAAAAAA

Gene: TUBE1, tubulin epsilon 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TUBE1 transcript	NM_016262.5:c.448+209_448… NM_016262.5:c.448+209_448+211del	N/A	Intron Variant
TUBE1 transcript variant X1	XM_047418854.1:c.316+209_… XM_047418854.1:c.316+209_316+211del	N/A	Intron Variant
TUBE1 transcript variant X2	XM_047418855.1:c.223+209_… XM_047418855.1:c.223+209_223+211del	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=	delAAA	delAA	delA	dupA	dupAA	dup(A)₅	dup(A)₆	dup(A)₁₀	dup(A)₁₁	ins(A)₁₈	ins(A)₂₂
GRCh38.p14 chr 6	NC_000006.12:g.112079422_112079436=	NC_000006.12:g.112079434_112079436del	NC_000006.12:g.112079435_112079436del	NC_000006.12:g.112079436del	NC_000006.12:g.112079436dup	NC_000006.12:g.112079435_112079436dup	NC_000006.12:g.112079432_112079436dup	NC_000006.12:g.112079431_112079436dup	NC_000006.12:g.112079427_112079436dup	NC_000006.12:g.112079426_112079436dup	NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAA	NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6 fix patch HG1304_PATCH	NW_003871062.1:g.76944_76958=	NW_003871062.1:g.76956_76958del	NW_003871062.1:g.76957_76958del	NW_003871062.1:g.76958del	NW_003871062.1:g.76958dup	NW_003871062.1:g.76957_76958dup	NW_003871062.1:g.76954_76958dup	NW_003871062.1:g.76953_76958dup	NW_003871062.1:g.76949_76958dup	NW_003871062.1:g.76948_76958dup	NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAA	NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6	NC_000006.11:g.112400625_112400639=	NC_000006.11:g.112400637_112400639del	NC_000006.11:g.112400638_112400639del	NC_000006.11:g.112400639del	NC_000006.11:g.112400639dup	NC_000006.11:g.112400638_112400639dup	NC_000006.11:g.112400635_112400639dup	NC_000006.11:g.112400634_112400639dup	NC_000006.11:g.112400630_112400639dup	NC_000006.11:g.112400629_112400639dup	NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAA	NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAAAAAA
TUBE1 transcript	NM_016262.4:c.448+211=	NM_016262.4:c.448+209_448+211del	NM_016262.4:c.448+210_448+211del	NM_016262.4:c.448+211del	NM_016262.4:c.448+211dup	NM_016262.4:c.448+210_448+211dup	NM_016262.4:c.448+207_448+211dup	NM_016262.4:c.448+206_448+211dup	NM_016262.4:c.448+202_448+211dup	NM_016262.4:c.448+201_448+211dup	NM_016262.4:c.448+211_448+212insTTTTTTTTTTTTTTTTTT	NM_016262.4:c.448+211_448+212insTTTTTTTTTTTTTTTTTTTTTT
TUBE1 transcript	NM_016262.5:c.448+211=	NM_016262.5:c.448+209_448+211del	NM_016262.5:c.448+210_448+211del	NM_016262.5:c.448+211del	NM_016262.5:c.448+211dup	NM_016262.5:c.448+210_448+211dup	NM_016262.5:c.448+207_448+211dup	NM_016262.5:c.448+206_448+211dup	NM_016262.5:c.448+202_448+211dup	NM_016262.5:c.448+201_448+211dup	NM_016262.5:c.448+211_448+212insTTTTTTTTTTTTTTTTTT	NM_016262.5:c.448+211_448+212insTTTTTTTTTTTTTTTTTTTTTT
TUBE1 transcript variant X1	XM_005267007.1:c.223+211=	XM_005267007.1:c.223+209_223+211del	XM_005267007.1:c.223+210_223+211del	XM_005267007.1:c.223+211del	XM_005267007.1:c.223+211dup	XM_005267007.1:c.223+210_223+211dup	XM_005267007.1:c.223+207_223+211dup	XM_005267007.1:c.223+206_223+211dup	XM_005267007.1:c.223+202_223+211dup	XM_005267007.1:c.223+201_223+211dup	XM_005267007.1:c.223+211_223+212insTTTTTTTTTTTTTTTTTT	XM_005267007.1:c.223+211_223+212insTTTTTTTTTTTTTTTTTTTTTT
TUBE1 transcript variant X1	XM_005277551.1:c.223+211=	XM_005277551.1:c.223+209_223+211del	XM_005277551.1:c.223+210_223+211del	XM_005277551.1:c.223+211del	XM_005277551.1:c.223+211dup	XM_005277551.1:c.223+210_223+211dup	XM_005277551.1:c.223+207_223+211dup	XM_005277551.1:c.223+206_223+211dup	XM_005277551.1:c.223+202_223+211dup	XM_005277551.1:c.223+201_223+211dup	XM_005277551.1:c.223+211_223+212insTTTTTTTTTTTTTTTTTT	XM_005277551.1:c.223+211_223+212insTTTTTTTTTTTTTTTTTTTTTT
TUBE1 transcript variant X1	XM_047418854.1:c.316+211=	XM_047418854.1:c.316+209_316+211del	XM_047418854.1:c.316+210_316+211del	XM_047418854.1:c.316+211del	XM_047418854.1:c.316+211dup	XM_047418854.1:c.316+210_316+211dup	XM_047418854.1:c.316+207_316+211dup	XM_047418854.1:c.316+206_316+211dup	XM_047418854.1:c.316+202_316+211dup	XM_047418854.1:c.316+201_316+211dup	XM_047418854.1:c.316+211_316+212insTTTTTTTTTTTTTTTTTT	XM_047418854.1:c.316+211_316+212insTTTTTTTTTTTTTTTTTTTTTT
TUBE1 transcript variant X2	XM_047418855.1:c.223+211=	XM_047418855.1:c.223+209_223+211del	XM_047418855.1:c.223+210_223+211del	XM_047418855.1:c.223+211del	XM_047418855.1:c.223+211dup	XM_047418855.1:c.223+210_223+211dup	XM_047418855.1:c.223+207_223+211dup	XM_047418855.1:c.223+206_223+211dup	XM_047418855.1:c.223+202_223+211dup	XM_047418855.1:c.223+201_223+211dup	XM_047418855.1:c.223+211_223+212insTTTTTTTTTTTTTTTTTT	XM_047418855.1:c.223+211_223+212insTTTTTTTTTTTTTTTTTTTTTT

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#.

45 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80942309	Dec 15, 2007 (129)
2	BUSHMAN	ss193881662	Jul 04, 2010 (132)
3	GMI	ss288794039	May 04, 2012 (137)
4	PJP	ss295301531	May 09, 2011 (135)
5	SSIP	ss947178214	Apr 09, 2015 (144)
6	EVA_GENOME_DK	ss1576836568	Apr 09, 2015 (144)
7	SYSTEMSBIOZJU	ss2626476615	Oct 12, 2018 (152)
8	SWEGEN	ss2999764730	Oct 12, 2018 (152)
9	EVA_DECODE	ss3718050566	Jul 13, 2019 (153)
10	EVA_DECODE	ss3718050567	Jul 13, 2019 (153)
11	EVA_DECODE	ss3718050568	Jul 13, 2019 (153)
12	EVA_DECODE	ss3718050569	Jul 13, 2019 (153)
13	ACPOP	ss3733880737	Jul 13, 2019 (153)
14	ACPOP	ss3733880738	Jul 13, 2019 (153)
15	EVA	ss3830138023	Apr 26, 2020 (154)
16	EVA	ss3844000779	Apr 26, 2020 (154)
17	KOGIC	ss3959861004	Apr 26, 2020 (154)
18	KOGIC	ss3959861005	Apr 26, 2020 (154)
19	GNOMAD	ss4149336690	Apr 26, 2021 (155)
20	GNOMAD	ss4149336691	Apr 26, 2021 (155)
21	GNOMAD	ss4149336692	Apr 26, 2021 (155)
22	GNOMAD	ss4149336693	Apr 26, 2021 (155)
23	GNOMAD	ss4149336694	Apr 26, 2021 (155)
24	GNOMAD	ss4149336695	Apr 26, 2021 (155)
25	GNOMAD	ss4149336696	Apr 26, 2021 (155)
26	GNOMAD	ss4149336698	Apr 26, 2021 (155)
27	GNOMAD	ss4149336699	Apr 26, 2021 (155)
28	GNOMAD	ss4149336700	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5179404853	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5179404854	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5179404855	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5269940862	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5269940863	Oct 13, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5269940864	Oct 13, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5269940865	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5467422021	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5467422022	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5467422023	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5718145474	Oct 13, 2022 (156)
40	TOMMO_GENOMICS	ss5718145475	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5718145476	Oct 13, 2022 (156)
42	TOMMO_GENOMICS	ss5718145477	Oct 13, 2022 (156)
43	EVA	ss5842829698	Oct 13, 2022 (156)
44	EVA	ss5842829699	Oct 13, 2022 (156)
45	EVA	ss5855535248	Oct 13, 2022 (156)
46	The Danish reference pan genome	NC_000006.11 - 112400625	Apr 26, 2020 (154)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 237667895 (NC_000006.12:112079421::A 26543/112632) Row 237667896 (NC_000006.12:112079421::AA 48/112860) Row 237667897 (NC_000006.12:112079421::AAAAA 20/112794)...	-	Apr 26, 2021 (155)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 16239005 (NC_000006.12:112079422::A 327/1832) Row 16239006 (NC_000006.12:112079421:A: 88/1832)	-	Apr 26, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 16239005 (NC_000006.12:112079422::A 327/1832) Row 16239006 (NC_000006.12:112079421:A: 88/1832)	-	Apr 26, 2020 (154)
59	Northern Sweden Submission ignored due to conflicting rows: Row 7165602 (NC_000006.11:112400624::A 63/550) Row 7165603 (NC_000006.11:112400624::AAAAAAAAAA 4/550)	-	Jul 13, 2019 (153)
60	Northern Sweden Submission ignored due to conflicting rows: Row 7165602 (NC_000006.11:112400624::A 63/550) Row 7165603 (NC_000006.11:112400624::AAAAAAAAAA 4/550)	-	Jul 13, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 37374160 (NC_000006.11:112400624::A 2153/16756) Row 37374161 (NC_000006.11:112400624:A: 18/16756) Row 37374162 (NC_000006.11:112400624::AAAAA 11/16756)	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 37374160 (NC_000006.11:112400624::A 2153/16756) Row 37374161 (NC_000006.11:112400624:A: 18/16756) Row 37374162 (NC_000006.11:112400624::AAAAA 11/16756)	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 37374160 (NC_000006.11:112400624::A 2153/16756) Row 37374161 (NC_000006.11:112400624:A: 18/16756) Row 37374162 (NC_000006.11:112400624::AAAAA 11/16756)	-	Apr 26, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 51982578 (NC_000006.12:112079421::A 3721/28256) Row 51982579 (NC_000006.12:112079421:A: 30/28256) Row 51982580 (NC_000006.12:112079421::AAAAA 16/28256)...	-	Oct 13, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 51982578 (NC_000006.12:112079421::A 3721/28256) Row 51982579 (NC_000006.12:112079421:A: 30/28256) Row 51982580 (NC_000006.12:112079421::AAAAA 16/28256)...	-	Oct 13, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 51982578 (NC_000006.12:112079421::A 3721/28256) Row 51982579 (NC_000006.12:112079421:A: 30/28256) Row 51982580 (NC_000006.12:112079421::AAAAA 16/28256)...	-	Oct 13, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 51982578 (NC_000006.12:112079421::A 3721/28256) Row 51982579 (NC_000006.12:112079421:A: 30/28256) Row 51982580 (NC_000006.12:112079421::AAAAA 16/28256)...	-	Oct 13, 2022 (156)
68	ALFA	NC_000006.12 - 112079422	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)
rs150800294	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3718050569, ss4149336700	NC_000006.12:112079421:AAA:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4149336699, ss5269940864	NC_000006.12:112079421:AA:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3718050568	NC_000006.12:112079422:AA:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5179404854	NC_000006.11:112400624:A:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3959861005, ss4149336698, ss5269940863, ss5467422021, ss5718145475	NC_000006.12:112079421:A:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3718050567	NC_000006.12:112079423:A:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss193881662	NT_025741.16:51849487:A:	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss288794039, ss295301531	NC_000006.10:112507332::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1101259, ss1576836568, ss2626476615, ss2999764730, ss3733880737, ss3830138023, ss5179404853, ss5842829698	NC_000006.11:112400624::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss947178214	NC_000006.11:112400625::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3844000779, ss4149336690, ss5269940862, ss5467422022, ss5718145474, ss5855535248	NC_000006.12:112079421::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3959861004	NC_000006.12:112079422::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3718050566	NC_000006.12:112079424::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss80942309	NT_025741.15:16570096::A	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4149336691, ss5269940865, ss5467422023	NC_000006.12:112079421::AA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5179404855	NC_000006.11:112400624::AAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4149336692, ss5718145476	NC_000006.12:112079421::AAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5842829699	NC_000006.11:112400624::AAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
ss4149336693, ss5718145477	NC_000006.12:112079421::AAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3733880738	NC_000006.11:112400624::AAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149336694	NC_000006.12:112079421::AAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149336695	NC_000006.12:112079421::AAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6243901844	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4149336696	NC_000006.12:112079421::AAAAAAAAAA… NC_000006.12:112079421::AAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:112079421:AAAAAAAAAAA… NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs60207053

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

rs60207053