Name: rs121
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.

rs121

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:24898067 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.431724 (114273/264690, TOPMED)
G=0.469069 (97344/207526, ALFA)
A=0.439777 (61604/140080, GnomAD) (+ 22 more)
A=0.35120 (27639/78698, PAGE_STUDY)
A=0.16788 (4744/28258, 14KJPN)
A=0.16983 (2846/16758, 8.3KJPN)
A=0.3379 (2164/6404, 1000G_30x)
A=0.3347 (1676/5008, 1000G)
G=0.4873 (2183/4480, Estonian)
G=0.4629 (1784/3854, ALSPAC)
G=0.4819 (1787/3708, TWINSUK)
A=0.1983 (581/2930, KOREAN)
A=0.3877 (808/2084, HGDP_Stanford)
A=0.3372 (638/1892, HapMap)
A=0.1861 (341/1832, Korea1K)
G=0.452 (451/998, GoNL)
A=0.218 (172/790, PRJEB37584)
G=0.490 (294/600, NorthernSweden)
A=0.249 (113/454, SGDP_PRJ)
G=0.468 (101/216, Qatari)
A=0.250 (53/212, Vietnamese)
A=0.26 (12/46, Siberian)
G=0.47 (19/40, GENOME_DK)
A=0.5 (4/8, Ancient Sardinia)
G=0.5 (4/8, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OSBPL3 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	212562	A=0.529431	G=0.470569
European	Sub	191092	A=0.546397	G=0.453603
African	Sub	6730	A=0.2664	G=0.7336
African Others	Sub	254	A=0.189	G=0.811
African American	Sub	6476	A=0.2695	G=0.7305
Asian	Sub	448	A=0.246	G=0.754
East Asian	Sub	342	A=0.240	G=0.760
Other Asian	Sub	106	A=0.264	G=0.736
Latin American 1	Sub	416	A=0.486	G=0.514
Latin American 2	Sub	2600	A=0.4919	G=0.5081
South Asian	Sub	4984	A=0.3638	G=0.6362
Other	Sub	6292	A=0.4654	G=0.5346

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=0.431724	G=0.568276
Allele Frequency Aggregator	Total	Global	207526	A=0.530931	G=0.469069
Allele Frequency Aggregator	European	Sub	187998	A=0.546298	G=0.453702
Allele Frequency Aggregator	African	Sub	5588	A=0.2695	G=0.7305
Allele Frequency Aggregator	Other	Sub	5492	A=0.4678	G=0.5322
Allele Frequency Aggregator	South Asian	Sub	4984	A=0.3638	G=0.6362
Allele Frequency Aggregator	Latin American 2	Sub	2600	A=0.4919	G=0.5081
Allele Frequency Aggregator	Asian	Sub	448	A=0.246	G=0.754
Allele Frequency Aggregator	Latin American 1	Sub	416	A=0.486	G=0.514
gnomAD - Genomes	Global	Study-wide	140080	A=0.439777	G=0.560223
gnomAD - Genomes	European	Sub	75860	A=0.53385	G=0.46615
gnomAD - Genomes	African	Sub	41970	A=0.27165	G=0.72835
gnomAD - Genomes	American	Sub	13654	A=0.46638	G=0.53362
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.4792	G=0.5208
gnomAD - Genomes	East Asian	Sub	3130	A=0.2383	G=0.7617
gnomAD - Genomes	Other	Sub	2148	A=0.4660	G=0.5340
The PAGE Study	Global	Study-wide	78698	A=0.35120	G=0.64880
The PAGE Study	AfricanAmerican	Sub	32512	A=0.27944	G=0.72056
The PAGE Study	Mexican	Sub	10810	A=0.47946	G=0.52054
The PAGE Study	Asian	Sub	8318	A=0.1756	G=0.8244
The PAGE Study	PuertoRican	Sub	7918	A=0.4821	G=0.5179
The PAGE Study	NativeHawaiian	Sub	4534	A=0.3213	G=0.6787
The PAGE Study	Cuban	Sub	4230	A=0.5232	G=0.4768
The PAGE Study	Dominican	Sub	3828	A=0.4135	G=0.5865
The PAGE Study	CentralAmerican	Sub	2450	A=0.4265	G=0.5735
The PAGE Study	SouthAmerican	Sub	1982	A=0.4455	G=0.5545
The PAGE Study	NativeAmerican	Sub	1260	A=0.4937	G=0.5063
The PAGE Study	SouthAsian	Sub	856	A=0.339	G=0.661
14KJPN	JAPANESE	Study-wide	28258	A=0.16788	G=0.83212
8.3KJPN	JAPANESE	Study-wide	16758	A=0.16983	G=0.83017
1000Genomes_30x	Global	Study-wide	6404	A=0.3379	G=0.6621
1000Genomes_30x	African	Sub	1786	A=0.2391	G=0.7609
1000Genomes_30x	Europe	Sub	1266	A=0.5205	G=0.4795
1000Genomes_30x	South Asian	Sub	1202	A=0.3170	G=0.6830
1000Genomes_30x	East Asian	Sub	1170	A=0.2171	G=0.7829
1000Genomes_30x	American	Sub	980	A=0.452	G=0.548
1000Genomes	Global	Study-wide	5008	A=0.3347	G=0.6653
1000Genomes	African	Sub	1322	A=0.2390	G=0.7610
1000Genomes	East Asian	Sub	1008	A=0.2183	G=0.7817
1000Genomes	Europe	Sub	1006	A=0.5199	G=0.4801
1000Genomes	South Asian	Sub	978	A=0.313	G=0.687
1000Genomes	American	Sub	694	A=0.448	G=0.552
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5127	G=0.4873
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5371	G=0.4629
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5181	G=0.4819
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.1983	C=0.0000, G=0.8017, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.3877	G=0.6123
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.198	G=0.802
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.343	G=0.657
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.520	G=0.480
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.566	G=0.434
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.215	G=0.785
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.560	G=0.440
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.51	G=0.49
HapMap	Global	Study-wide	1892	A=0.3372	G=0.6628
HapMap	American	Sub	770	A=0.381	G=0.619
HapMap	African	Sub	692	A=0.289	G=0.711
HapMap	Asian	Sub	254	A=0.157	G=0.843
HapMap	Europe	Sub	176	A=0.597	G=0.403
Korean Genome Project	KOREAN	Study-wide	1832	A=0.1861	G=0.8139
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.548	G=0.452
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.218	G=0.782
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.218	G=0.782
Northern Sweden	ACPOP	Study-wide	600	A=0.510	G=0.490
SGDP_PRJ	Global	Study-wide	454	A=0.249	G=0.751
Qatari	Global	Study-wide	216	A=0.532	G=0.468
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.250	G=0.750
Siberian	Global	Study-wide	46	A=0.26	G=0.74
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=0.47
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	8	A=0.5	G=0.5

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 7	NC_000007.14:g.24898067A>C
GRCh38.p14 chr 7	NC_000007.14:g.24898067A>G
GRCh38.p14 chr 7	NC_000007.14:g.24898067A>T
GRCh37.p13 chr 7	NC_000007.13:g.24937686A>C
GRCh37.p13 chr 7	NC_000007.13:g.24937686A>G
GRCh37.p13 chr 7	NC_000007.13:g.24937686A>T

Gene: OSBPL3, oxysterol binding protein like 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OSBPL3 transcript variant 1	NM_015550.4:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant 2	NM_145320.2:c.	N/A	Genic Upstream Transcript Variant
OSBPL3 transcript variant 3	NM_145321.2:c.	N/A	Genic Upstream Transcript Variant
OSBPL3 transcript variant 4	NM_145322.2:c.	N/A	Genic Upstream Transcript Variant
OSBPL3 transcript variant 5	NR_104111.1:n.	N/A	Genic Upstream Transcript Variant
OSBPL3 transcript variant 6	NR_104112.1:n.	N/A	Genic Upstream Transcript Variant
OSBPL3 transcript variant X7	XM_005249698.4:c.-149-544… XM_005249698.4:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X17	XM_006715681.4:c.-149-544… XM_006715681.4:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X22	XM_006715682.4:c.-149-544… XM_006715682.4:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X27	XM_006715683.4:c.-149-544… XM_006715683.4:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X8	XM_011515258.3:c.-149-544… XM_011515258.3:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X1	XM_047420129.1:c.-149-544… XM_047420129.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X2	XM_047420130.1:c.-149-544… XM_047420130.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X3	XM_047420131.1:c.-149-544… XM_047420131.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X4	XM_047420132.1:c.-149-544… XM_047420132.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X5	XM_047420133.1:c.-149-544… XM_047420133.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X6	XM_047420134.1:c.-149-544… XM_047420134.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X9	XM_047420135.1:c.-149-544… XM_047420135.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X10	XM_047420136.1:c.-149-544… XM_047420136.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X11	XM_047420137.1:c.-149-544… XM_047420137.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X12	XM_047420138.1:c.-149-544… XM_047420138.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X13	XM_047420139.1:c.-149-544… XM_047420139.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X14	XM_047420140.1:c.-149-544… XM_047420140.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X15	XM_047420141.1:c.-149-544… XM_047420141.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X16	XM_047420142.1:c.-149-544… XM_047420142.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X18	XM_047420143.1:c.-149-544… XM_047420143.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X19	XM_047420144.1:c.-149-544… XM_047420144.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X20	XM_047420145.1:c.-149-544… XM_047420145.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X21	XM_047420146.1:c.-149-544… XM_047420146.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X23	XM_047420147.1:c.-149-544… XM_047420147.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X24	XM_047420148.1:c.-149-544… XM_047420148.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X25	XM_047420149.1:c.-149-544… XM_047420149.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X26	XM_047420150.1:c.-149-544… XM_047420150.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X28	XM_047420151.1:c.-149-544… XM_047420151.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X29	XM_047420152.1:c.-149-544… XM_047420152.1:c.-149-5446T>G	N/A	Intron Variant
OSBPL3 transcript variant X37	XM_047420153.1:c.	N/A	Genic Upstream Transcript Variant
OSBPL3 transcript variant X30	XR_007060001.1:n.	N/A	Intron Variant
OSBPL3 transcript variant X31	XR_007060002.1:n.	N/A	Intron Variant
OSBPL3 transcript variant X32	XR_007060003.1:n.	N/A	Intron Variant
OSBPL3 transcript variant X33	XR_007060004.1:n.	N/A	Intron Variant
OSBPL3 transcript variant X34	XR_007060005.1:n.	N/A	Intron Variant
OSBPL3 transcript variant X35	XR_007060006.1:n.	N/A	Intron Variant
OSBPL3 transcript variant X36	XR_007060007.1:n.	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=	C	G	T
GRCh38.p14 chr 7	NC_000007.14:g.24898067=	NC_000007.14:g.24898067A>C	NC_000007.14:g.24898067A>G	NC_000007.14:g.24898067A>T
GRCh37.p13 chr 7	NC_000007.13:g.24937686=	NC_000007.13:g.24937686A>C	NC_000007.13:g.24937686A>G	NC_000007.13:g.24937686A>T
OSBPL3 transcript variant 1	NM_015550.2:c.-149-5446=	NM_015550.2:c.-149-5446T>G	NM_015550.2:c.-149-5446T>C	NM_015550.2:c.-149-5446T>A
OSBPL3 transcript variant 1	NM_015550.4:c.-149-5446=	NM_015550.4:c.-149-5446T>G	NM_015550.4:c.-149-5446T>C	NM_015550.4:c.-149-5446T>A
OSBPL3 transcript variant 2	NM_145320.1:c.-149-5446=	NM_145320.1:c.-149-5446T>G	NM_145320.1:c.-149-5446T>C	NM_145320.1:c.-149-5446T>A
OSBPL3 transcript variant 3	NM_145321.1:c.-149-5446=	NM_145321.1:c.-149-5446T>G	NM_145321.1:c.-149-5446T>C	NM_145321.1:c.-149-5446T>A
OSBPL3 transcript variant 4	NM_145322.1:c.-149-5446=	NM_145322.1:c.-149-5446T>G	NM_145322.1:c.-149-5446T>C	NM_145322.1:c.-149-5446T>A
OSBPL3 transcript variant X1	XM_005249698.1:c.-149-5446=	XM_005249698.1:c.-149-5446T>G	XM_005249698.1:c.-149-5446T>C	XM_005249698.1:c.-149-5446T>A
OSBPL3 transcript variant X7	XM_005249698.4:c.-149-5446=	XM_005249698.4:c.-149-5446T>G	XM_005249698.4:c.-149-5446T>C	XM_005249698.4:c.-149-5446T>A
OSBPL3 transcript variant X17	XM_006715681.4:c.-149-5446=	XM_006715681.4:c.-149-5446T>G	XM_006715681.4:c.-149-5446T>C	XM_006715681.4:c.-149-5446T>A
OSBPL3 transcript variant X22	XM_006715682.4:c.-149-5446=	XM_006715682.4:c.-149-5446T>G	XM_006715682.4:c.-149-5446T>C	XM_006715682.4:c.-149-5446T>A
OSBPL3 transcript variant X27	XM_006715683.4:c.-149-5446=	XM_006715683.4:c.-149-5446T>G	XM_006715683.4:c.-149-5446T>C	XM_006715683.4:c.-149-5446T>A
OSBPL3 transcript variant X8	XM_011515258.3:c.-149-5446=	XM_011515258.3:c.-149-5446T>G	XM_011515258.3:c.-149-5446T>C	XM_011515258.3:c.-149-5446T>A
OSBPL3 transcript variant X1	XM_047420129.1:c.-149-5446=	XM_047420129.1:c.-149-5446T>G	XM_047420129.1:c.-149-5446T>C	XM_047420129.1:c.-149-5446T>A
OSBPL3 transcript variant X2	XM_047420130.1:c.-149-5446=	XM_047420130.1:c.-149-5446T>G	XM_047420130.1:c.-149-5446T>C	XM_047420130.1:c.-149-5446T>A
OSBPL3 transcript variant X3	XM_047420131.1:c.-149-5446=	XM_047420131.1:c.-149-5446T>G	XM_047420131.1:c.-149-5446T>C	XM_047420131.1:c.-149-5446T>A
OSBPL3 transcript variant X4	XM_047420132.1:c.-149-5446=	XM_047420132.1:c.-149-5446T>G	XM_047420132.1:c.-149-5446T>C	XM_047420132.1:c.-149-5446T>A
OSBPL3 transcript variant X5	XM_047420133.1:c.-149-5446=	XM_047420133.1:c.-149-5446T>G	XM_047420133.1:c.-149-5446T>C	XM_047420133.1:c.-149-5446T>A
OSBPL3 transcript variant X6	XM_047420134.1:c.-149-5446=	XM_047420134.1:c.-149-5446T>G	XM_047420134.1:c.-149-5446T>C	XM_047420134.1:c.-149-5446T>A
OSBPL3 transcript variant X9	XM_047420135.1:c.-149-5446=	XM_047420135.1:c.-149-5446T>G	XM_047420135.1:c.-149-5446T>C	XM_047420135.1:c.-149-5446T>A
OSBPL3 transcript variant X10	XM_047420136.1:c.-149-5446=	XM_047420136.1:c.-149-5446T>G	XM_047420136.1:c.-149-5446T>C	XM_047420136.1:c.-149-5446T>A
OSBPL3 transcript variant X11	XM_047420137.1:c.-149-5446=	XM_047420137.1:c.-149-5446T>G	XM_047420137.1:c.-149-5446T>C	XM_047420137.1:c.-149-5446T>A
OSBPL3 transcript variant X12	XM_047420138.1:c.-149-5446=	XM_047420138.1:c.-149-5446T>G	XM_047420138.1:c.-149-5446T>C	XM_047420138.1:c.-149-5446T>A
OSBPL3 transcript variant X13	XM_047420139.1:c.-149-5446=	XM_047420139.1:c.-149-5446T>G	XM_047420139.1:c.-149-5446T>C	XM_047420139.1:c.-149-5446T>A
OSBPL3 transcript variant X14	XM_047420140.1:c.-149-5446=	XM_047420140.1:c.-149-5446T>G	XM_047420140.1:c.-149-5446T>C	XM_047420140.1:c.-149-5446T>A
OSBPL3 transcript variant X15	XM_047420141.1:c.-149-5446=	XM_047420141.1:c.-149-5446T>G	XM_047420141.1:c.-149-5446T>C	XM_047420141.1:c.-149-5446T>A
OSBPL3 transcript variant X16	XM_047420142.1:c.-149-5446=	XM_047420142.1:c.-149-5446T>G	XM_047420142.1:c.-149-5446T>C	XM_047420142.1:c.-149-5446T>A
OSBPL3 transcript variant X18	XM_047420143.1:c.-149-5446=	XM_047420143.1:c.-149-5446T>G	XM_047420143.1:c.-149-5446T>C	XM_047420143.1:c.-149-5446T>A
OSBPL3 transcript variant X19	XM_047420144.1:c.-149-5446=	XM_047420144.1:c.-149-5446T>G	XM_047420144.1:c.-149-5446T>C	XM_047420144.1:c.-149-5446T>A
OSBPL3 transcript variant X20	XM_047420145.1:c.-149-5446=	XM_047420145.1:c.-149-5446T>G	XM_047420145.1:c.-149-5446T>C	XM_047420145.1:c.-149-5446T>A
OSBPL3 transcript variant X21	XM_047420146.1:c.-149-5446=	XM_047420146.1:c.-149-5446T>G	XM_047420146.1:c.-149-5446T>C	XM_047420146.1:c.-149-5446T>A
OSBPL3 transcript variant X23	XM_047420147.1:c.-149-5446=	XM_047420147.1:c.-149-5446T>G	XM_047420147.1:c.-149-5446T>C	XM_047420147.1:c.-149-5446T>A
OSBPL3 transcript variant X24	XM_047420148.1:c.-149-5446=	XM_047420148.1:c.-149-5446T>G	XM_047420148.1:c.-149-5446T>C	XM_047420148.1:c.-149-5446T>A
OSBPL3 transcript variant X25	XM_047420149.1:c.-149-5446=	XM_047420149.1:c.-149-5446T>G	XM_047420149.1:c.-149-5446T>C	XM_047420149.1:c.-149-5446T>A
OSBPL3 transcript variant X26	XM_047420150.1:c.-149-5446=	XM_047420150.1:c.-149-5446T>G	XM_047420150.1:c.-149-5446T>C	XM_047420150.1:c.-149-5446T>A
OSBPL3 transcript variant X28	XM_047420151.1:c.-149-5446=	XM_047420151.1:c.-149-5446T>G	XM_047420151.1:c.-149-5446T>C	XM_047420151.1:c.-149-5446T>A
OSBPL3 transcript variant X29	XM_047420152.1:c.-149-5446=	XM_047420152.1:c.-149-5446T>G	XM_047420152.1:c.-149-5446T>C	XM_047420152.1:c.-149-5446T>A

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#.

136 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss121	Sep 19, 2000 (36)
2	BCM_SSAHASNP	ss10369657	Jul 11, 2003 (116)
3	WUGSC_SSAHASNP	ss14584573	Dec 05, 2003 (120)
4	SC_SNP	ss15734678	Feb 28, 2004 (121)
5	SSAHASNP	ss22611498	Apr 05, 2004 (121)
6	SSAHASNP	ss22920092	Apr 05, 2004 (121)
7	PERLEGEN	ss24422651	Sep 20, 2004 (123)
8	ABI	ss44818903	Mar 14, 2006 (126)
9	ILLUMINA	ss66669301	Dec 01, 2006 (127)
10	ILLUMINA	ss66982641	Dec 01, 2006 (127)
11	ILLUMINA	ss67155004	Dec 01, 2006 (127)
12	PERLEGEN	ss69009661	May 17, 2007 (127)
13	ILLUMINA	ss70404899	May 17, 2007 (127)
14	ILLUMINA	ss70555408	May 25, 2008 (130)
15	ILLUMINA	ss71092463	May 17, 2007 (127)
16	AFFY	ss74854896	Aug 16, 2007 (128)
17	ILLUMINA	ss75583430	Dec 07, 2007 (129)
18	HGSV	ss78092616	Dec 07, 2007 (129)
19	KRIBB_YJKIM	ss83343970	Dec 15, 2007 (130)
20	HGSV	ss84444273	Dec 15, 2007 (130)
21	HGSV	ss84513075	Dec 15, 2007 (130)
22	HUMANGENOME_JCVI	ss98240996	Feb 05, 2009 (130)
23	1000GENOMES	ss111690892	Jan 25, 2009 (130)
24	1000GENOMES	ss113477393	Jan 25, 2009 (130)
25	ILLUMINA-UK	ss115987535	Feb 14, 2009 (130)
26	ILLUMINA	ss121535933	Dec 01, 2009 (131)
27	ILLUMINA	ss153130827	Dec 01, 2009 (131)
28	GMI	ss154528732	Dec 01, 2009 (131)
29	ILLUMINA	ss159203549	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss163847158	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss166294559	Jul 04, 2010 (132)
32	ILLUMINA	ss170043448	Jul 04, 2010 (132)
33	ILLUMINA	ss171855675	Jul 04, 2010 (132)
34	BUSHMAN	ss203089127	Jul 04, 2010 (132)
35	1000GENOMES	ss222968515	Jul 14, 2010 (132)
36	1000GENOMES	ss233894335	Jul 15, 2010 (132)
37	1000GENOMES	ss240865893	Jul 15, 2010 (132)
38	BL	ss254127916	May 09, 2011 (134)
39	GMI	ss279229015	May 04, 2012 (137)
40	GMI	ss285592319	Apr 25, 2013 (138)
41	PJP	ss294032218	May 09, 2011 (134)
42	ILLUMINA	ss479671879	May 04, 2012 (137)
43	ILLUMINA	ss479677250	May 04, 2012 (137)
44	ILLUMINA	ss484634501	May 04, 2012 (137)
45	ILLUMINA	ss536754628	Sep 08, 2015 (146)
46	TISHKOFF	ss559875584	Apr 25, 2013 (138)
47	SSMP	ss654228884	Apr 25, 2013 (138)
48	ILLUMINA	ss778774282	Aug 21, 2014 (142)
49	ILLUMINA	ss782764081	Aug 21, 2014 (142)
50	ILLUMINA	ss783730415	Aug 21, 2014 (142)
51	ILLUMINA	ss825374173	Apr 01, 2015 (144)
52	ILLUMINA	ss832016394	Apr 01, 2015 (144)
53	ILLUMINA	ss832715991	Aug 21, 2014 (142)
54	ILLUMINA	ss833306804	Aug 21, 2014 (142)
55	ILLUMINA	ss834234158	Aug 21, 2014 (142)
56	EVA-GONL	ss984063883	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1074451239	Aug 21, 2014 (142)
58	1000GENOMES	ss1324345429	Aug 21, 2014 (142)
59	DDI	ss1431061143	Apr 01, 2015 (144)
60	EVA_GENOME_DK	ss1582116564	Apr 01, 2015 (144)
61	EVA_DECODE	ss1593632736	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1617793807	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1660787840	Apr 01, 2015 (144)
64	EVA_SVP	ss1712939919	Apr 01, 2015 (144)
65	ILLUMINA	ss1752679464	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1804916721	Sep 08, 2015 (146)
67	WEILL_CORNELL_DGM	ss1927308942	Feb 12, 2016 (147)
68	ILLUMINA	ss1946204489	Feb 12, 2016 (147)
69	ILLUMINA	ss1958996466	Feb 12, 2016 (147)
70	GENOMED	ss1970651529	Jul 19, 2016 (147)
71	JJLAB	ss2024331531	Sep 14, 2016 (149)
72	USC_VALOUEV	ss2152527678	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2292524694	Dec 20, 2016 (150)
74	SYSTEMSBIOZJU	ss2626654712	Nov 08, 2017 (151)
75	ILLUMINA	ss2634581246	Nov 08, 2017 (151)
76	GRF	ss2708184503	Nov 08, 2017 (151)
77	ILLUMINA	ss2711105836	Nov 08, 2017 (151)
78	GNOMAD	ss2850927436	Nov 08, 2017 (151)
79	SWEGEN	ss3000793880	Nov 08, 2017 (151)
80	ILLUMINA	ss3022718070	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3025960068	Nov 08, 2017 (151)
82	CSHL	ss3347488192	Nov 08, 2017 (151)
83	ILLUMINA	ss3625924590	Oct 12, 2018 (152)
84	ILLUMINA	ss3629774427	Oct 12, 2018 (152)
85	ILLUMINA	ss3632490024	Oct 12, 2018 (152)
86	ILLUMINA	ss3633456444	Oct 12, 2018 (152)
87	ILLUMINA	ss3634181035	Oct 12, 2018 (152)
88	ILLUMINA	ss3635112842	Oct 12, 2018 (152)
89	ILLUMINA	ss3635861010	Oct 12, 2018 (152)
90	ILLUMINA	ss3637613955	Oct 12, 2018 (152)
91	ILLUMINA	ss3638686405	Oct 12, 2018 (152)
92	ILLUMINA	ss3639345627	Oct 12, 2018 (152)
93	ILLUMINA	ss3639700462	Oct 12, 2018 (152)
94	ILLUMINA	ss3640820138	Oct 12, 2018 (152)
95	ILLUMINA	ss3643623369	Oct 12, 2018 (152)
96	ILLUMINA	ss3644937601	Oct 12, 2018 (152)
97	URBANLAB	ss3648585739	Oct 12, 2018 (152)
98	ILLUMINA	ss3653246292	Oct 12, 2018 (152)
99	EGCUT_WGS	ss3668722645	Jul 13, 2019 (153)
100	EVA_DECODE	ss3719304049	Jul 13, 2019 (153)
101	ILLUMINA	ss3726429325	Jul 13, 2019 (153)
102	ACPOP	ss3734451675	Jul 13, 2019 (153)
103	ILLUMINA	ss3744286832	Jul 13, 2019 (153)
104	ILLUMINA	ss3745412726	Jul 13, 2019 (153)
105	EVA	ss3766316562	Jul 13, 2019 (153)
106	PAGE_CC	ss3771358345	Jul 13, 2019 (153)
107	ILLUMINA	ss3772905907	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3809483984	Jul 13, 2019 (153)
109	EVA	ss3830470460	Apr 26, 2020 (154)
110	EVA	ss3838722478	Apr 26, 2020 (154)
111	EVA	ss3844173732	Apr 26, 2020 (154)
112	HGDP	ss3847869979	Apr 26, 2020 (154)
113	SGDP_PRJ	ss3866852833	Apr 26, 2020 (154)
114	KRGDB	ss3913891125	Apr 26, 2020 (154)
115	KOGIC	ss3961077293	Apr 26, 2020 (154)
116	EVA	ss3984585175	Apr 26, 2021 (155)
117	EVA	ss3985283821	Apr 26, 2021 (155)
118	EVA	ss4017326099	Apr 26, 2021 (155)
119	TOPMED	ss4739173596	Apr 26, 2021 (155)
120	TOMMO_GENOMICS	ss5182268741	Apr 26, 2021 (155)
121	1000G_HIGH_COVERAGE	ss5272191975	Oct 14, 2022 (156)
122	EVA	ss5315233236	Oct 14, 2022 (156)
123	HUGCELL_USP	ss5469440542	Oct 14, 2022 (156)
124	EVA	ss5508885790	Oct 14, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5560016930	Oct 14, 2022 (156)
126	SANFORD_IMAGENETICS	ss5624657648	Oct 14, 2022 (156)
127	SANFORD_IMAGENETICS	ss5642556123	Oct 14, 2022 (156)
128	TOMMO_GENOMICS	ss5721850862	Oct 14, 2022 (156)
129	YY_MCH	ss5808427488	Oct 14, 2022 (156)
130	EVA	ss5822550853	Oct 14, 2022 (156)
131	EVA	ss5847314436	Oct 14, 2022 (156)
132	EVA	ss5848131807	Oct 14, 2022 (156)
133	EVA	ss5855809321	Oct 14, 2022 (156)
134	EVA	ss5858122785	Oct 14, 2022 (156)
135	EVA	ss5971756632	Oct 14, 2022 (156)
136	EVA	ss5979820132	Oct 14, 2022 (156)
137	1000Genomes	NC_000007.13 - 24937686	Oct 12, 2018 (152)
138	1000Genomes_30x	NC_000007.14 - 24898067	Oct 14, 2022 (156)
139	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 24937686	Oct 12, 2018 (152)
140	Genetic variation in the Estonian population	NC_000007.13 - 24937686	Oct 12, 2018 (152)
141	The Danish reference pan genome	NC_000007.13 - 24937686	Apr 26, 2020 (154)
142	gnomAD - Genomes	NC_000007.14 - 24898067	Apr 26, 2021 (155)
143	Genome of the Netherlands Release 5	NC_000007.13 - 24937686	Apr 26, 2020 (154)
144	HGDP-CEPH-db Supplement 1	NC_000007.12 - 24904211	Apr 26, 2020 (154)
145	HapMap	NC_000007.14 - 24898067	Apr 26, 2020 (154)
146	KOREAN population from KRGDB	NC_000007.13 - 24937686	Apr 26, 2020 (154)
147	Korean Genome Project	NC_000007.14 - 24898067	Apr 26, 2020 (154)
148	Northern Sweden	NC_000007.13 - 24937686	Jul 13, 2019 (153)
149	The PAGE Study	NC_000007.14 - 24898067	Jul 13, 2019 (153)
150	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 24937686	Apr 26, 2021 (155)
151	CNV burdens in cranial meningiomas	NC_000007.13 - 24937686	Apr 26, 2021 (155)
152	Qatari	NC_000007.13 - 24937686	Apr 26, 2020 (154)
153	SGDP_PRJ	NC_000007.13 - 24937686	Apr 26, 2020 (154)
154	Siberian	NC_000007.13 - 24937686	Apr 26, 2020 (154)
155	8.3KJPN	NC_000007.13 - 24937686	Apr 26, 2021 (155)
156	14KJPN	NC_000007.14 - 24898067	Oct 14, 2022 (156)
157	TopMed	NC_000007.14 - 24898067	Apr 26, 2021 (155)
158	UK 10K study - Twins	NC_000007.13 - 24937686	Oct 12, 2018 (152)
159	A Vietnamese Genetic Variation Database	NC_000007.13 - 24937686	Jul 13, 2019 (153)
160	ALFA	NC_000007.14 - 24898067	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)
rs10379015	Feb 27, 2004 (120)
rs11508458	Apr 05, 2004 (121)
rs17295284	Oct 08, 2004 (123)
rs52810376	Sep 21, 2007 (128)
rs59895934	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
21068519, ss3913891125	NC_000007.13:24937685:A:C	NC_000007.14:24898066:A:C	(self)
ss78092616, ss84444273, ss84513075, ss3639345627, ss3639700462	NC_000007.11:24710925:A:G	NC_000007.14:24898066:A:G	(self)
547871, ss111690892, ss113477393, ss115987535, ss163847158, ss166294559, ss203089127, ss254127916, ss279229015, ss285592319, ss294032218, ss479671879, ss825374173, ss1593632736, ss1712939919, ss3643623369, ss3847869979	NC_000007.12:24904210:A:G	NC_000007.14:24898066:A:G	(self)
36287368, 20229678, 14460893, 8281503, 9019530, 21068519, 7736540, 509748, 134596, 9350872, 18869813, 5044032, 40238048, 20229678, 4507480, ss222968515, ss233894335, ss240865893, ss479677250, ss484634501, ss536754628, ss559875584, ss654228884, ss778774282, ss782764081, ss783730415, ss832016394, ss832715991, ss833306804, ss834234158, ss984063883, ss1074451239, ss1324345429, ss1431061143, ss1582116564, ss1617793807, ss1660787840, ss1752679464, ss1804916721, ss1927308942, ss1946204489, ss1958996466, ss1970651529, ss2024331531, ss2152527678, ss2626654712, ss2634581246, ss2708184503, ss2711105836, ss2850927436, ss3000793880, ss3022718070, ss3347488192, ss3625924590, ss3629774427, ss3632490024, ss3633456444, ss3634181035, ss3635112842, ss3635861010, ss3637613955, ss3638686405, ss3640820138, ss3644937601, ss3653246292, ss3668722645, ss3734451675, ss3744286832, ss3745412726, ss3766316562, ss3772905907, ss3830470460, ss3838722478, ss3866852833, ss3913891125, ss3984585175, ss3985283821, ss4017326099, ss5182268741, ss5315233236, ss5508885790, ss5624657648, ss5642556123, ss5822550853, ss5847314436, ss5848131807, ss5971756632, ss5979820132	NC_000007.13:24937685:A:G	NC_000007.14:24898066:A:G	(self)
47542865, 255867151, 3358792, 17455294, 579814, 55687966, 576551155, 11237696681, ss2292524694, ss3025960068, ss3648585739, ss3719304049, ss3726429325, ss3771358345, ss3809483984, ss3844173732, ss3961077293, ss4739173596, ss5272191975, ss5469440542, ss5560016930, ss5721850862, ss5808427488, ss5855809321, ss5858122785	NC_000007.14:24898066:A:G	NC_000007.14:24898066:A:G	(self)
ss10369657	NT_007819.13:24231293:A:G	NC_000007.14:24898066:A:G	(self)
ss14584573, ss15734678, ss22611498, ss22920092	NT_007819.14:24231293:A:G	NC_000007.14:24898066:A:G	(self)
ss121, ss24422651, ss44818903, ss66669301, ss66982641, ss67155004, ss69009661, ss70404899, ss70555408, ss71092463, ss74854896, ss75583430, ss83343970, ss98240996, ss121535933, ss153130827, ss154528732, ss159203549, ss170043448, ss171855675	NT_007819.17:24927685:A:G	NC_000007.14:24898066:A:G	(self)
21068519, ss3913891125	NC_000007.13:24937685:A:T	NC_000007.14:24898066:A:T	(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 rs121

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs121