Name: rs59048780
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.

rs59048780

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:23443378-23443401 (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(AC)₇ / del(AC)₆ / del(AC)₅ / d…
del(AC)₇ / del(AC)₆ / del(AC)₅ / del(AC)₄ / del(AC)₃ / delACAC / delAC / dupAC / dupACAC / dup(AC)₇
Variation Type: Indel Insertion and Deletion
Frequency: (AC)₁₂=0.2787 (1443/5178, ALFA)
delACAC=0.4457 (2232/5008, 1000G)
delACAC=0.0916 (353/3854, ALSPAC)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GOLGA6L2 : 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	5178	ACACACACACACACACACACACAC=0.2787	ACACACACAC=0.0000, ACACACACACAC=0.0000, ACACACACACACAC=0.0000, ACACACACACACACAC=0.0002, ACACACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.7202, ACACACACACACACACACACACACAC=0.0010, ACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACAC=0.0000	0.161053	0.6024	0.236547	32
European	Sub	4712	ACACACACACACACACACACACAC=0.2084	ACACACACAC=0.0000, ACACACACACAC=0.0000, ACACACACACACAC=0.0000, ACACACACACACACAC=0.0002, ACACACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.7903, ACACACACACACACACACACACACAC=0.0011, ACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACAC=0.0000	0.079149	0.661277	0.259574	32
African	Sub	406	ACACACACACACACACACACACAC=1.000	ACACACACAC=0.000, ACACACACACAC=0.000, ACACACACACACAC=0.000, ACACACACACACACAC=0.000, ACACACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	ACACACACACACACACACACACAC=1.0	ACACACACAC=0.0, ACACACACACAC=0.0, ACACACACACACAC=0.0, ACACACACACACACAC=0.0, ACACACACACACACACAC=0.0, ACACACACACACACACACAC=0.0, ACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACAC=0.0	1.0	0.0	0.0	N/A
African American	Sub	398	ACACACACACACACACACACACAC=1.000	ACACACACAC=0.000, ACACACACACAC=0.000, ACACACACACACAC=0.000, ACACACACACACACAC=0.000, ACACACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	ACACACACACACACACACACACAC=0	ACACACACAC=0, ACACACACACAC=0, ACACACACACACAC=0, ACACACACACACACAC=0, ACACACACACACACACAC=0, ACACACACACACACACACAC=0, ACACACACACACACACACACAC=0, ACACACACACACACACACACACACAC=0, ACACACACACACACACACACACACACAC=0, ACACACACACACACACACACACACACACACACACACAC=0	0	0	0	N/A
East Asian	Sub	0	ACACACACACACACACACACACAC=0	ACACACACAC=0, ACACACACACAC=0, ACACACACACACAC=0, ACACACACACACACAC=0, ACACACACACACACACAC=0, ACACACACACACACACACAC=0, ACACACACACACACACACACAC=0, ACACACACACACACACACACACACAC=0, ACACACACACACACACACACACACACAC=0, ACACACACACACACACACACACACACACACACACACAC=0	0	0	0	N/A
Other Asian	Sub	0	ACACACACACACACACACACACAC=0	ACACACACAC=0, ACACACACACAC=0, ACACACACACACAC=0, ACACACACACACACAC=0, ACACACACACACACACAC=0, ACACACACACACACACACAC=0, ACACACACACACACACACACAC=0, ACACACACACACACACACACACACAC=0, ACACACACACACACACACACACACACAC=0, ACACACACACACACACACACACACACACACACACACAC=0	0	0	0	N/A
Latin American 1	Sub	4	ACACACACACACACACACACACAC=1.0	ACACACACAC=0.0, ACACACACACAC=0.0, ACACACACACACAC=0.0, ACACACACACACACAC=0.0, ACACACACACACACACAC=0.0, ACACACACACACACACACAC=0.0, ACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACAC=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	12	ACACACACACACACACACACACAC=1.00	ACACACACAC=0.00, ACACACACACAC=0.00, ACACACACACACAC=0.00, ACACACACACACACAC=0.00, ACACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	ACACACACACACACACACACACAC=1.0	ACACACACAC=0.0, ACACACACACAC=0.0, ACACACACACACAC=0.0, ACACACACACACACAC=0.0, ACACACACACACACACAC=0.0, ACACACACACACACACACAC=0.0, ACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACAC=0.0	1.0	0.0	0.0	N/A
Other	Sub	40	ACACACACACACACACACACACAC=0.88	ACACACACAC=0.00, ACACACACACAC=0.00, ACACACACACACAC=0.00, ACACACACACACACAC=0.00, ACACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.12, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00	0.85	0.1	0.05	7

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
Allele Frequency Aggregator	Total	Global	5178	(AC)₁₂=0.2787	del(AC)₇=0.0000, del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0002, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.7202, dupAC=0.0010, dupACAC=0.0000, dup(AC)₇=0.0000
Allele Frequency Aggregator	European	Sub	4712	(AC)₁₂=0.2084	del(AC)₇=0.0000, del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0002, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.7903, dupAC=0.0011, dupACAC=0.0000, dup(AC)₇=0.0000
Allele Frequency Aggregator	African	Sub	406	(AC)₁₂=1.000	del(AC)₇=0.000, del(AC)₆=0.000, del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₇=0.000
Allele Frequency Aggregator	Other	Sub	40	(AC)₁₂=0.88	del(AC)₇=0.00, del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.12, dupAC=0.00, dupACAC=0.00, dup(AC)₇=0.00
Allele Frequency Aggregator	Latin American 2	Sub	12	(AC)₁₂=1.00	del(AC)₇=0.00, del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	4	(AC)₁₂=1.0	del(AC)₇=0.0, del(AC)₆=0.0, del(AC)₅=0.0, del(AC)₄=0.0, del(AC)₃=0.0, delACAC=0.0, delAC=0.0, dupAC=0.0, dupACAC=0.0, dup(AC)₇=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(AC)₁₂=1.0	del(AC)₇=0.0, del(AC)₆=0.0, del(AC)₅=0.0, del(AC)₄=0.0, del(AC)₃=0.0, delACAC=0.0, delAC=0.0, dupAC=0.0, dupACAC=0.0, dup(AC)₇=0.0
Allele Frequency Aggregator	Asian	Sub	0	(AC)₁₂=0	del(AC)₇=0, del(AC)₆=0, del(AC)₅=0, del(AC)₄=0, del(AC)₃=0, delACAC=0, delAC=0, dupAC=0, dupACAC=0, dup(AC)₇=0
1000Genomes	Global	Study-wide	5008	(AC)₁₂=0.5543	delACAC=0.4457
1000Genomes	African	Sub	1322	(AC)₁₂=0.7874	delACAC=0.2126
1000Genomes	East Asian	Sub	1008	(AC)₁₂=0.3790	delACAC=0.6210
1000Genomes	Europe	Sub	1006	(AC)₁₂=0.5765	delACAC=0.4235
1000Genomes	South Asian	Sub	978	(AC)₁₂=0.476	delACAC=0.524
1000Genomes	American	Sub	694	(AC)₁₂=0.442	delACAC=0.558
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(AC)₁₂=0.9084	delACAC=0.0916

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 15	NC_000015.10:g.23443378AC[5]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[6]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[7]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[8]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[9]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[10]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[11]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[13]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[14]
GRCh38.p14 chr 15	NC_000015.10:g.23443378AC[19]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[5]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[6]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[7]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[8]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[9]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[10]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[11]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[13]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[14]
GRCh37.p13 chr 15	NC_000015.9:g.23688525AC[19]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[12]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[5]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[6]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[7]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[8]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[9]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[10]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[13]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[14]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[19]

Gene: GOLGA6L2, golgin A6 family like 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GOLGA6L2 transcript	NM_001304388.2:c.591+376G… NM_001304388.2:c.591+376GT[5]	N/A	Intron Variant
GOLGA6L2 transcript variant X1	XM_047432396.1:c.432+376G… XM_047432396.1:c.432+376GT[5]	N/A	Intron Variant
GOLGA6L2 transcript variant X2	XM_047432397.1:c.591+376G… XM_047432397.1:c.591+376GT[5]	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	(AC)₁₂=	del(AC)₇	del(AC)₆	del(AC)₅	del(AC)₄	del(AC)₃	delACAC	delAC	dupAC	dupACAC	dup(AC)₇
GRCh38.p14 chr 15	NC_000015.10:g.23443378_23443401=	NC_000015.10:g.23443378AC[5]	NC_000015.10:g.23443378AC[6]	NC_000015.10:g.23443378AC[7]	NC_000015.10:g.23443378AC[8]	NC_000015.10:g.23443378AC[9]	NC_000015.10:g.23443378AC[10]	NC_000015.10:g.23443378AC[11]	NC_000015.10:g.23443378AC[13]	NC_000015.10:g.23443378AC[14]	NC_000015.10:g.23443378AC[19]
GRCh37.p13 chr 15	NC_000015.9:g.23688525_23688548=	NC_000015.9:g.23688525AC[5]	NC_000015.9:g.23688525AC[6]	NC_000015.9:g.23688525AC[7]	NC_000015.9:g.23688525AC[8]	NC_000015.9:g.23688525AC[9]	NC_000015.9:g.23688525AC[10]	NC_000015.9:g.23688525AC[11]	NC_000015.9:g.23688525AC[13]	NC_000015.9:g.23688525AC[14]	NC_000015.9:g.23688525AC[19]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.4389574AC[12]	NW_021160017.1:g.4389574AC[5]	NW_021160017.1:g.4389574AC[6]	NW_021160017.1:g.4389574AC[7]	NW_021160017.1:g.4389574AC[8]	NW_021160017.1:g.4389574AC[9]	NW_021160017.1:g.4389574AC[10]	NW_021160017.1:g.4389574_4389595=	NW_021160017.1:g.4389574AC[13]	NW_021160017.1:g.4389574AC[14]	NW_021160017.1:g.4389574AC[19]
GOLGA6L2 transcript	NM_001304388.2:c.591+399=	NM_001304388.2:c.591+376GT[5]	NM_001304388.2:c.591+376GT[6]	NM_001304388.2:c.591+376GT[7]	NM_001304388.2:c.591+376GT[8]	NM_001304388.2:c.591+376GT[9]	NM_001304388.2:c.591+376GT[10]	NM_001304388.2:c.591+376GT[11]	NM_001304388.2:c.591+376GT[13]	NM_001304388.2:c.591+376GT[14]	NM_001304388.2:c.591+376GT[19]
GOLGA6L2 transcript variant X1	XM_002343322.4:c.591+399=	XM_002343322.4:c.591+376GT[5]	XM_002343322.4:c.591+376GT[6]	XM_002343322.4:c.591+376GT[7]	XM_002343322.4:c.591+376GT[8]	XM_002343322.4:c.591+376GT[9]	XM_002343322.4:c.591+376GT[10]	XM_002343322.4:c.591+376GT[11]	XM_002343322.4:c.591+376GT[13]	XM_002343322.4:c.591+376GT[14]	XM_002343322.4:c.591+376GT[19]
GOLGA6L2 transcript variant X2	XM_003846353.2:c.591+399=	XM_003846353.2:c.591+376GT[5]	XM_003846353.2:c.591+376GT[6]	XM_003846353.2:c.591+376GT[7]	XM_003846353.2:c.591+376GT[8]	XM_003846353.2:c.591+376GT[9]	XM_003846353.2:c.591+376GT[10]	XM_003846353.2:c.591+376GT[11]	XM_003846353.2:c.591+376GT[13]	XM_003846353.2:c.591+376GT[14]	XM_003846353.2:c.591+376GT[19]
GOLGA6L2 transcript variant X3	XM_005268282.1:c.-167+399=	XM_005268282.1:c.-167+376GT[5]	XM_005268282.1:c.-167+376GT[6]	XM_005268282.1:c.-167+376GT[7]	XM_005268282.1:c.-167+376GT[8]	XM_005268282.1:c.-167+376GT[9]	XM_005268282.1:c.-167+376GT[10]	XM_005268282.1:c.-167+376GT[11]	XM_005268282.1:c.-167+376GT[13]	XM_005268282.1:c.-167+376GT[14]	XM_005268282.1:c.-167+376GT[19]
GOLGA6L2 transcript variant X1	XM_047432396.1:c.432+399=	XM_047432396.1:c.432+376GT[5]	XM_047432396.1:c.432+376GT[6]	XM_047432396.1:c.432+376GT[7]	XM_047432396.1:c.432+376GT[8]	XM_047432396.1:c.432+376GT[9]	XM_047432396.1:c.432+376GT[10]	XM_047432396.1:c.432+376GT[11]	XM_047432396.1:c.432+376GT[13]	XM_047432396.1:c.432+376GT[14]	XM_047432396.1:c.432+376GT[19]
GOLGA6L2 transcript variant X2	XM_047432397.1:c.591+399=	XM_047432397.1:c.591+376GT[5]	XM_047432397.1:c.591+376GT[6]	XM_047432397.1:c.591+376GT[7]	XM_047432397.1:c.591+376GT[8]	XM_047432397.1:c.591+376GT[9]	XM_047432397.1:c.591+376GT[10]	XM_047432397.1:c.591+376GT[11]	XM_047432397.1:c.591+376GT[13]	XM_047432397.1:c.591+376GT[14]	XM_047432397.1:c.591+376GT[19]

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#.

76 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81122677	Sep 08, 2015 (146)
2	HGSV	ss81129238	Sep 08, 2015 (146)
3	BCMHGSC_JDW	ss103571103	Dec 06, 2013 (138)
4	BUSHMAN	ss193373780	Jul 04, 2010 (137)
5	BL	ss256156605	May 09, 2011 (137)
6	GMI	ss289246009	May 04, 2012 (137)
7	PJP	ss294850591	May 09, 2011 (134)
8	1000GENOMES	ss327648716	May 09, 2011 (137)
9	1000GENOMES	ss327763688	May 09, 2011 (137)
10	1000GENOMES	ss328153785	May 09, 2011 (137)
11	LUNTER	ss552398296	Apr 25, 2013 (138)
12	LUNTER	ss552721032	Apr 25, 2013 (138)
13	LUNTER	ss553565614	Apr 25, 2013 (138)
14	SSMP	ss664259710	Apr 01, 2015 (144)
15	BILGI_BIOE	ss666641873	Apr 25, 2013 (138)
16	SSIP	ss947338203	Aug 21, 2014 (142)
17	1000GENOMES	ss1374640747	Aug 21, 2014 (142)
18	DDI	ss1536799409	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1708216061	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1708216325	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1710657129	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1710657134	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1808110627	Sep 08, 2015 (146)
24	SWEGEN	ss3012943739	Nov 08, 2017 (151)
25	MCHAISSO	ss3063810610	Nov 08, 2017 (151)
26	MCHAISSO	ss3064647253	Nov 08, 2017 (151)
27	MCHAISSO	ss3065577374	Nov 08, 2017 (151)
28	URBANLAB	ss3650306656	Oct 12, 2018 (152)
29	EVA_DECODE	ss3697510986	Jul 13, 2019 (153)
30	EVA_DECODE	ss3697510987	Jul 13, 2019 (153)
31	EVA_DECODE	ss3697510988	Jul 13, 2019 (153)
32	EVA_DECODE	ss3697510989	Jul 13, 2019 (153)
33	EVA_DECODE	ss3697510990	Jul 13, 2019 (153)
34	ACPOP	ss3740751847	Jul 13, 2019 (153)
35	ACPOP	ss3740751848	Jul 13, 2019 (153)
36	PACBIO	ss3787788978	Jul 13, 2019 (153)
37	PACBIO	ss3792809505	Jul 13, 2019 (153)
38	PACBIO	ss3797693922	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3818158712	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3818158713	Jul 13, 2019 (153)
41	EVA	ss3834135616	Apr 27, 2020 (154)
42	EVA	ss3840662245	Apr 27, 2020 (154)
43	EVA	ss3846150604	Apr 27, 2020 (154)
44	KOGIC	ss3975780737	Apr 27, 2020 (154)
45	KOGIC	ss3975780738	Apr 27, 2020 (154)
46	KOGIC	ss3975780739	Apr 27, 2020 (154)
47	GNOMAD	ss4285332915	Apr 27, 2021 (155)
48	GNOMAD	ss4285332916	Apr 27, 2021 (155)
49	GNOMAD	ss4285332917	Apr 27, 2021 (155)
50	GNOMAD	ss4285332918	Apr 27, 2021 (155)
51	GNOMAD	ss4285332919	Apr 27, 2021 (155)
52	GNOMAD	ss4285332920	Apr 27, 2021 (155)
53	GNOMAD	ss4285332921	Apr 27, 2021 (155)
54	GNOMAD	ss4285332922	Apr 27, 2021 (155)
55	GNOMAD	ss4285332923	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5215238760	Apr 27, 2021 (155)
57	TOMMO_GENOMICS	ss5215238761	Apr 27, 2021 (155)
58	TOMMO_GENOMICS	ss5215238762	Apr 27, 2021 (155)
59	TOMMO_GENOMICS	ss5215238763	Apr 27, 2021 (155)
60	TOMMO_GENOMICS	ss5215238764	Apr 27, 2021 (155)
61	1000G_HIGH_COVERAGE	ss5297726011	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5297726012	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5297726013	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5297726014	Oct 16, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5297726015	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5491559280	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5491559281	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5491559282	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5768769764	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5768769765	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5768769766	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5768769767	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5768769768	Oct 16, 2022 (156)
74	EVA	ss5827928702	Oct 16, 2022 (156)
75	EVA	ss5827928703	Oct 16, 2022 (156)
76	EVA	ss5875101863	Oct 16, 2022 (156)
77	1000Genomes	NC_000015.9 - 23688525	Oct 12, 2018 (152)
78	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 23688525	Oct 12, 2018 (152)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463263187 (NC_000015.10:23443377::AC 167/138162) Row 463263188 (NC_000015.10:23443377::ACAC 4/138162) Row 463263189 (NC_000015.10:23443377:AC: 103692/138028)...	-	Apr 27, 2021 (155)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 32158738 (NC_000015.10:23443377:ACAC: 132/1832) Row 32158739 (NC_000015.10:23443379:AC: 1390/1832) Row 32158740 (NC_000015.10:23443381::AC 3/1832)	-	Apr 27, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 32158738 (NC_000015.10:23443377:ACAC: 132/1832) Row 32158739 (NC_000015.10:23443379:AC: 1390/1832) Row 32158740 (NC_000015.10:23443381::AC 3/1832)	-	Apr 27, 2020 (154)
90	Korean Genome Project Submission ignored due to conflicting rows: Row 32158738 (NC_000015.10:23443377:ACAC: 132/1832) Row 32158739 (NC_000015.10:23443379:AC: 1390/1832) Row 32158740 (NC_000015.10:23443381::AC 3/1832)	-	Apr 27, 2020 (154)
91	Northern Sweden Submission ignored due to conflicting rows: Row 14036712 (NC_000015.9:23688524:AC: 473/600) Row 14036713 (NC_000015.9:23688524:ACAC: 6/600)	-	Jul 13, 2019 (153)
92	Northern Sweden Submission ignored due to conflicting rows: Row 14036712 (NC_000015.9:23688524:AC: 473/600) Row 14036713 (NC_000015.9:23688524:ACAC: 6/600)	-	Jul 13, 2019 (153)
93	8.3KJPN Submission ignored due to conflicting rows: Row 73208067 (NC_000015.9:23688524:AC: 13377/16760) Row 73208068 (NC_000015.9:23688524:ACAC: 43/16760) Row 73208069 (NC_000015.9:23688524:ACACACAC: 6/16760)...	-	Apr 27, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 73208067 (NC_000015.9:23688524:AC: 13377/16760) Row 73208068 (NC_000015.9:23688524:ACAC: 43/16760) Row 73208069 (NC_000015.9:23688524:ACACACAC: 6/16760)...	-	Apr 27, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 73208067 (NC_000015.9:23688524:AC: 13377/16760) Row 73208068 (NC_000015.9:23688524:ACAC: 43/16760) Row 73208069 (NC_000015.9:23688524:ACACACAC: 6/16760)...	-	Apr 27, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 73208067 (NC_000015.9:23688524:AC: 13377/16760) Row 73208068 (NC_000015.9:23688524:ACAC: 43/16760) Row 73208069 (NC_000015.9:23688524:ACACACAC: 6/16760)...	-	Apr 27, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 73208067 (NC_000015.9:23688524:AC: 13377/16760) Row 73208068 (NC_000015.9:23688524:ACAC: 43/16760) Row 73208069 (NC_000015.9:23688524:ACACACAC: 6/16760)...	-	Apr 27, 2021 (155)
98	14KJPN Submission ignored due to conflicting rows: Row 102606868 (NC_000015.10:23443377:AC: 22606/28258) Row 102606869 (NC_000015.10:23443377:ACAC: 52/28258) Row 102606870 (NC_000015.10:23443377:ACACACAC: 7/28258)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 102606868 (NC_000015.10:23443377:AC: 22606/28258) Row 102606869 (NC_000015.10:23443377:ACAC: 52/28258) Row 102606870 (NC_000015.10:23443377:ACACACAC: 7/28258)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 102606868 (NC_000015.10:23443377:AC: 22606/28258) Row 102606869 (NC_000015.10:23443377:ACAC: 52/28258) Row 102606870 (NC_000015.10:23443377:ACACACAC: 7/28258)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 102606868 (NC_000015.10:23443377:AC: 22606/28258) Row 102606869 (NC_000015.10:23443377:ACAC: 52/28258) Row 102606870 (NC_000015.10:23443377:ACACACAC: 7/28258)...	-	Oct 16, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 102606868 (NC_000015.10:23443377:AC: 22606/28258) Row 102606869 (NC_000015.10:23443377:ACAC: 52/28258) Row 102606870 (NC_000015.10:23443377:ACACACAC: 7/28258)...	-	Oct 16, 2022 (156)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36492564 (NC_000015.9:23688526:AC: 2750/3708) Row 36492565 (NC_000015.9:23688524:ACAC: 375/3708)	-	Apr 27, 2020 (154)
104	UK 10K study - Twins	-	Oct 12, 2018 (152)
105	ALFA	NC_000015.10 - 23443378	Apr 27, 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)
rs74195882	Dec 02, 2009 (131)
rs111641877	May 11, 2012 (137)
rs149502068	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4285332923	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACAC	(self)
ss4285332922	NC_000015.10:23443377:ACACACACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACAC	(self)
ss3012943739	NC_000015.9:23688524:ACACACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACAC	(self)
ss4285332921, ss5297726015	NC_000015.10:23443377:ACACACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACAC	(self)
ss5215238762	NC_000015.9:23688524:ACACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACAC	(self)
ss3697510990, ss4285332920, ss5297726012, ss5491559282, ss5768769766	NC_000015.10:23443377:ACACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACAC	(self)
ss5215238764	NC_000015.9:23688524:ACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACAC	(self)
ss4285332919, ss5768769768	NC_000015.10:23443377:ACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACAC	(self)
ss3697510989	NC_000015.10:23443379:ACACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACAC	(self)
65712579, 36492565, ss1374640747, ss1708216061, ss1708216325, ss3740751848, ss5215238761, ss5827928703	NC_000015.9:23688524:ACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACAC	(self)
ss3818158712, ss3975780737, ss4285332918, ss5297726013, ss5491559281, ss5768769765	NC_000015.10:23443377:ACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACAC	(self)
ss3697510988	NC_000015.10:23443381:ACAC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACAC	(self)
ss256156605, ss289246009, ss327648716, ss327763688, ss328153785, ss552398296, ss552721032, ss553565614	NC_000015.8:21239617:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss294850591	NC_000015.8:21239628:CA:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss81122677, ss81129238	NC_000015.8:21239639:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss664259710, ss666641873, ss1536799409, ss1808110627, ss3740751847, ss3787788978, ss3792809505, ss3797693922, ss3834135616, ss3840662245, ss5215238760, ss5827928702	NC_000015.9:23688524:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss947338203, ss1710657129, ss1710657134	NC_000015.9:23688526:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss3063810610, ss3064647253, ss3065577374, ss3650306656, ss3818158713, ss3846150604, ss4285332917, ss5297726011, ss5491559280, ss5768769764, ss5875101863	NC_000015.10:23443377:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss3975780738	NC_000015.10:23443379:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss3697510987	NC_000015.10:23443383:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss193373780	NT_010194.18:166503:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss103571103	NT_026446.14:123693:AC:	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss5215238763	NC_000015.9:23688524::AC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss4285332915, ss5297726014, ss5768769767	NC_000015.10:23443377::AC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss3975780739	NC_000015.10:23443381::AC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss3697510986	NC_000015.10:23443385::AC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss4285332916	NC_000015.10:23443377::ACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)
9252638503	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3222319732	NC_000015.10:23443377::ACACACACACA… NC_000015.10:23443377::ACACACACACACAC	NC_000015.10:23443377:ACACACACACAC… NC_000015.10:23443377:ACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC

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

No publications for rs59048780

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs59048780