Name: rs13067593
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.

rs13067593

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:188866891 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.147981 (46310/312946, ALFA)
G=0.115274 (30512/264690, TOPMED)
G=0.120499 (16885/140126, GnomAD) (+ 19 more)
G=0.07874 (6197/78700, PAGE_STUDY)
G=0.00011 (3/28258, 14KJPN)
G=0.0723 (463/6404, 1000G_30x)
G=0.0721 (361/5008, 1000G)
G=0.0942 (422/4480, Estonian)
G=0.1598 (616/3854, ALSPAC)
G=0.1645 (610/3708, TWINSUK)
G=0.0715 (149/2084, HGDP_Stanford)
G=0.0994 (132/1328, HapMap)
G=0.1523 (173/1136, Daghestan)
G=0.162 (162/998, GoNL)
G=0.200 (120/600, NorthernSweden)
G=0.120 (26/216, Qatari)
G=0.005 (1/216, Vietnamese)
G=0.38 (30/80, Ancient Sardinia)
A=0.44 (31/70, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
A=0.5 (4/8, Siberian)
G=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LPP : Intron Variant
Publications: 1 citation
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	318072	A=0.852332	G=0.147668
European	Sub	278898	A=0.843337	G=0.156663
African	Sub	11736	A=0.91513	G=0.08487
African Others	Sub	456	A=0.930	G=0.070
African American	Sub	11280	A=0.91454	G=0.08546
Asian	Sub	3942	A=1.0000	G=0.0000
East Asian	Sub	3196	A=1.0000	G=0.0000
Other Asian	Sub	746	A=1.000	G=0.000
Latin American 1	Sub	1134	A=0.8624	G=0.1376
Latin American 2	Sub	7122	A=0.9233	G=0.0767
South Asian	Sub	5224	A=0.9403	G=0.0597
Other	Sub	10016	A=0.87360	G=0.12640

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	312946	A=0.852019	G=0.147981
Allele Frequency Aggregator	European	Sub	275732	A=0.843275	G=0.156725
Allele Frequency Aggregator	African	Sub	10594	A=0.91410	G=0.08590
Allele Frequency Aggregator	Other	Sub	9198	A=0.8726	G=0.1274
Allele Frequency Aggregator	Latin American 2	Sub	7122	A=0.9233	G=0.0767
Allele Frequency Aggregator	South Asian	Sub	5224	A=0.9403	G=0.0597
Allele Frequency Aggregator	Asian	Sub	3942	A=1.0000	G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1134	A=0.8624	G=0.1376
TopMed	Global	Study-wide	264690	A=0.884726	G=0.115274
gnomAD - Genomes	Global	Study-wide	140126	A=0.879501	G=0.120499
gnomAD - Genomes	European	Sub	75886	A=0.85030	G=0.14970
gnomAD - Genomes	African	Sub	41998	A=0.91619	G=0.08381
gnomAD - Genomes	American	Sub	13650	A=0.90696	G=0.09304
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	A=0.8571	G=0.1429
gnomAD - Genomes	East Asian	Sub	3132	A=0.9994	G=0.0006
gnomAD - Genomes	Other	Sub	2144	A=0.8792	G=0.1208
The PAGE Study	Global	Study-wide	78700	A=0.92126	G=0.07874
The PAGE Study	AfricanAmerican	Sub	32516	A=0.91567	G=0.08433
The PAGE Study	Mexican	Sub	10810	A=0.92655	G=0.07345
The PAGE Study	Asian	Sub	8316	A=0.9994	G=0.0006
The PAGE Study	PuertoRican	Sub	7918	A=0.8780	G=0.1220
The PAGE Study	NativeHawaiian	Sub	4534	A=0.9561	G=0.0439
The PAGE Study	Cuban	Sub	4230	A=0.8714	G=0.1286
The PAGE Study	Dominican	Sub	3828	A=0.8874	G=0.1126
The PAGE Study	CentralAmerican	Sub	2450	A=0.9322	G=0.0678
The PAGE Study	SouthAmerican	Sub	1982	A=0.9168	G=0.0832
The PAGE Study	NativeAmerican	Sub	1260	A=0.8857	G=0.1143
The PAGE Study	SouthAsian	Sub	856	A=0.952	G=0.048
14KJPN	JAPANESE	Study-wide	28258	A=0.99989	G=0.00011
1000Genomes_30x	Global	Study-wide	6404	A=0.9277	G=0.0723
1000Genomes_30x	African	Sub	1786	A=0.9267	G=0.0733
1000Genomes_30x	Europe	Sub	1266	A=0.8460	G=0.1540
1000Genomes_30x	South Asian	Sub	1202	A=0.9476	G=0.0524
1000Genomes_30x	East Asian	Sub	1170	A=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	A=0.924	G=0.076
1000Genomes	Global	Study-wide	5008	A=0.9279	G=0.0721
1000Genomes	African	Sub	1322	A=0.9281	G=0.0719
1000Genomes	East Asian	Sub	1008	A=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	A=0.8429	G=0.1571
1000Genomes	South Asian	Sub	978	A=0.948	G=0.052
1000Genomes	American	Sub	694	A=0.918	G=0.082
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9058	G=0.0942
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.8402	G=0.1598
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8355	G=0.1645
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.9285	G=0.0715
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.996	G=0.004
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.959	G=0.041
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.849	G=0.151
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.850	G=0.150
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.884	G=0.116
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.995	G=0.005
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=1.00	G=0.00
HapMap	Global	Study-wide	1328	A=0.9006	G=0.0994
HapMap	African	Sub	690	A=0.896	G=0.104
HapMap	American	Sub	374	A=0.909	G=0.091
HapMap	Europe	Sub	176	A=0.852	G=0.148
HapMap	Asian	Sub	88	A=1.00	G=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.8477	G=0.1523
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.820	G=0.180
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.833	G=0.167
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.959	G=0.041
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.833	G=0.167
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.97	G=0.03
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.72	G=0.28
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.838	G=0.162
Northern Sweden	ACPOP	Study-wide	600	A=0.800	G=0.200
Qatari	Global	Study-wide	216	A=0.880	G=0.120
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.995	G=0.005
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	A=0.62	G=0.38
SGDP_PRJ	Global	Study-wide	70	A=0.44	G=0.56
The Danish reference pan genome	Danish	Study-wide	40	A=0.90	G=0.10
Siberian	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 3	NC_000003.12:g.188866891A>G
GRCh37.p13 chr 3	NC_000003.11:g.188584679A>G
LPP RefSeqGene	NG_016932.2:g.718017A>G

Gene: LPP, LIM domain containing preferred translocation partner in lipoma (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LPP transcript variant 2	NM_001167671.3:c.1589+513… NM_001167671.3:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 3	NM_001167672.3:c.1148+513… NM_001167672.3:c.1148+513A>G	N/A	Intron Variant
LPP transcript variant 4	NM_001375455.1:c.1589+513… NM_001375455.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 5	NM_001375456.1:c.1589+513… NM_001375456.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 6	NM_001375457.1:c.1589+513… NM_001375457.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 8	NM_001375458.1:c.1589+513… NM_001375458.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 9	NM_001375459.1:c.1589+513… NM_001375459.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 10	NM_001375460.1:c.1589+513… NM_001375460.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 7	NM_001375461.1:c.1589+513… NM_001375461.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 11	NM_001375462.1:c.1589+513… NM_001375462.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 12	NM_001375463.1:c.1589+513… NM_001375463.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 14	NM_001375464.1:c.1589+513… NM_001375464.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 13	NM_001375465.1:c.1589+513… NM_001375465.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 16	NM_001387663.1:c.1589+513… NM_001387663.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 17	NM_001387664.1:c.1589+513… NM_001387664.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 18	NM_001387665.1:c.1589+513… NM_001387665.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 19	NM_001387666.1:c.1589+513… NM_001387666.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 20	NM_001387667.1:c.1589+513… NM_001387667.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 21	NM_001387668.1:c.1589+513… NM_001387668.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 22	NM_001387669.1:c.1589+513… NM_001387669.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 23	NM_001387670.1:c.1589+513… NM_001387670.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 24	NM_001387671.1:c.1589+513… NM_001387671.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 25	NM_001387672.1:c.1589+513… NM_001387672.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 26	NM_001387673.1:c.1589+513… NM_001387673.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 27	NM_001387674.1:c.1589+513… NM_001387674.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 28	NM_001387675.1:c.1100+513… NM_001387675.1:c.1100+513A>G	N/A	Intron Variant
LPP transcript variant 29	NM_001387676.1:c.1100+513… NM_001387676.1:c.1100+513A>G	N/A	Intron Variant
LPP transcript variant 1	NM_005578.5:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant 30	NM_001387677.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 31	NM_001387678.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 32	NM_001387679.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 33	NM_001387680.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 34	NM_001387681.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 35	NM_001387682.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 36	NM_001387683.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant 15	NR_164692.1:n.	N/A	Intron Variant
LPP transcript variant X3	XM_011512823.3:c.1664+513… XM_011512823.3:c.1664+513A>G	N/A	Intron Variant
LPP transcript variant X22	XM_017006378.2:c.1589+513… XM_017006378.2:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X1	XM_047448097.1:c.1781+513… XM_047448097.1:c.1781+513A>G	N/A	Intron Variant
LPP transcript variant X2	XM_047448098.1:c.1724+513… XM_047448098.1:c.1724+513A>G	N/A	Intron Variant
LPP transcript variant X4	XM_047448099.1:c.1658+513… XM_047448099.1:c.1658+513A>G	N/A	Intron Variant
LPP transcript variant X5	XM_047448100.1:c.1649+513… XM_047448100.1:c.1649+513A>G	N/A	Intron Variant
LPP transcript variant X6	XM_047448101.1:c.1589+513… XM_047448101.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X7	XM_047448102.1:c.1589+513… XM_047448102.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X8	XM_047448103.1:c.1589+513… XM_047448103.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X9	XM_047448104.1:c.1589+513… XM_047448104.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X10	XM_047448105.1:c.1589+513… XM_047448105.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X11	XM_047448106.1:c.1589+513… XM_047448106.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X12	XM_047448107.1:c.1589+513… XM_047448107.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X13	XM_047448108.1:c.1589+513… XM_047448108.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X14	XM_047448109.1:c.1589+513… XM_047448109.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X15	XM_047448110.1:c.1589+513… XM_047448110.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X16	XM_047448111.1:c.1589+513… XM_047448111.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X17	XM_047448112.1:c.1589+513… XM_047448112.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X18	XM_047448113.1:c.1589+513… XM_047448113.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X19	XM_047448114.1:c.1589+513… XM_047448114.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X20	XM_047448115.1:c.1589+513… XM_047448115.1:c.1589+513A>G	N/A	Intron Variant
LPP transcript variant X23	XM_017006381.1:c.	N/A	Genic Downstream Transcript Variant
LPP transcript variant X21	XM_047448116.1:c.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	G
GRCh38.p14 chr 3	NC_000003.12:g.188866891=	NC_000003.12:g.188866891A>G
GRCh37.p13 chr 3	NC_000003.11:g.188584679=	NC_000003.11:g.188584679A>G
LPP RefSeqGene	NG_016932.2:g.718017=	NG_016932.2:g.718017A>G
LPP transcript variant 2	NM_001167671.1:c.1589+513=	NM_001167671.1:c.1589+513A>G
LPP transcript variant 2	NM_001167671.3:c.1589+513=	NM_001167671.3:c.1589+513A>G
LPP transcript variant 3	NM_001167672.1:c.1148+513=	NM_001167672.1:c.1148+513A>G
LPP transcript variant 3	NM_001167672.3:c.1148+513=	NM_001167672.3:c.1148+513A>G
LPP transcript variant 4	NM_001375455.1:c.1589+513=	NM_001375455.1:c.1589+513A>G
LPP transcript variant 5	NM_001375456.1:c.1589+513=	NM_001375456.1:c.1589+513A>G
LPP transcript variant 6	NM_001375457.1:c.1589+513=	NM_001375457.1:c.1589+513A>G
LPP transcript variant 8	NM_001375458.1:c.1589+513=	NM_001375458.1:c.1589+513A>G
LPP transcript variant 9	NM_001375459.1:c.1589+513=	NM_001375459.1:c.1589+513A>G
LPP transcript variant 10	NM_001375460.1:c.1589+513=	NM_001375460.1:c.1589+513A>G
LPP transcript variant 7	NM_001375461.1:c.1589+513=	NM_001375461.1:c.1589+513A>G
LPP transcript variant 11	NM_001375462.1:c.1589+513=	NM_001375462.1:c.1589+513A>G
LPP transcript variant 12	NM_001375463.1:c.1589+513=	NM_001375463.1:c.1589+513A>G
LPP transcript variant 14	NM_001375464.1:c.1589+513=	NM_001375464.1:c.1589+513A>G
LPP transcript variant 13	NM_001375465.1:c.1589+513=	NM_001375465.1:c.1589+513A>G
LPP transcript variant 16	NM_001387663.1:c.1589+513=	NM_001387663.1:c.1589+513A>G
LPP transcript variant 17	NM_001387664.1:c.1589+513=	NM_001387664.1:c.1589+513A>G
LPP transcript variant 18	NM_001387665.1:c.1589+513=	NM_001387665.1:c.1589+513A>G
LPP transcript variant 19	NM_001387666.1:c.1589+513=	NM_001387666.1:c.1589+513A>G
LPP transcript variant 20	NM_001387667.1:c.1589+513=	NM_001387667.1:c.1589+513A>G
LPP transcript variant 21	NM_001387668.1:c.1589+513=	NM_001387668.1:c.1589+513A>G
LPP transcript variant 22	NM_001387669.1:c.1589+513=	NM_001387669.1:c.1589+513A>G
LPP transcript variant 23	NM_001387670.1:c.1589+513=	NM_001387670.1:c.1589+513A>G
LPP transcript variant 24	NM_001387671.1:c.1589+513=	NM_001387671.1:c.1589+513A>G
LPP transcript variant 25	NM_001387672.1:c.1589+513=	NM_001387672.1:c.1589+513A>G
LPP transcript variant 26	NM_001387673.1:c.1589+513=	NM_001387673.1:c.1589+513A>G
LPP transcript variant 27	NM_001387674.1:c.1589+513=	NM_001387674.1:c.1589+513A>G
LPP transcript variant 28	NM_001387675.1:c.1100+513=	NM_001387675.1:c.1100+513A>G
LPP transcript variant 29	NM_001387676.1:c.1100+513=	NM_001387676.1:c.1100+513A>G
LPP transcript variant 1	NM_005578.3:c.1589+513=	NM_005578.3:c.1589+513A>G
LPP transcript variant 1	NM_005578.5:c.1589+513=	NM_005578.5:c.1589+513A>G
LPP transcript variant X1	XM_005247444.1:c.1679+513=	XM_005247444.1:c.1679+513A>G
LPP transcript variant X2	XM_005247445.1:c.1589+513=	XM_005247445.1:c.1589+513A>G
LPP transcript variant X3	XM_005247446.1:c.1589+513=	XM_005247446.1:c.1589+513A>G
LPP transcript variant X4	XM_005247447.1:c.1589+513=	XM_005247447.1:c.1589+513A>G
LPP transcript variant X5	XM_005247448.1:c.1589+513=	XM_005247448.1:c.1589+513A>G
LPP transcript variant X6	XM_005247449.1:c.1589+513=	XM_005247449.1:c.1589+513A>G
LPP transcript variant X7	XM_005247450.1:c.1589+513=	XM_005247450.1:c.1589+513A>G
LPP transcript variant X8	XM_005247451.1:c.1589+513=	XM_005247451.1:c.1589+513A>G
LPP transcript variant X9	XM_005247452.1:c.1589+513=	XM_005247452.1:c.1589+513A>G
LPP transcript variant X15	XM_005247453.1:c.1589+513=	XM_005247453.1:c.1589+513A>G
LPP transcript variant X3	XM_011512823.3:c.1664+513=	XM_011512823.3:c.1664+513A>G
LPP transcript variant X22	XM_017006378.2:c.1589+513=	XM_017006378.2:c.1589+513A>G
LPP transcript variant X1	XM_047448097.1:c.1781+513=	XM_047448097.1:c.1781+513A>G
LPP transcript variant X2	XM_047448098.1:c.1724+513=	XM_047448098.1:c.1724+513A>G
LPP transcript variant X4	XM_047448099.1:c.1658+513=	XM_047448099.1:c.1658+513A>G
LPP transcript variant X5	XM_047448100.1:c.1649+513=	XM_047448100.1:c.1649+513A>G
LPP transcript variant X6	XM_047448101.1:c.1589+513=	XM_047448101.1:c.1589+513A>G
LPP transcript variant X7	XM_047448102.1:c.1589+513=	XM_047448102.1:c.1589+513A>G
LPP transcript variant X8	XM_047448103.1:c.1589+513=	XM_047448103.1:c.1589+513A>G
LPP transcript variant X9	XM_047448104.1:c.1589+513=	XM_047448104.1:c.1589+513A>G
LPP transcript variant X10	XM_047448105.1:c.1589+513=	XM_047448105.1:c.1589+513A>G
LPP transcript variant X11	XM_047448106.1:c.1589+513=	XM_047448106.1:c.1589+513A>G
LPP transcript variant X12	XM_047448107.1:c.1589+513=	XM_047448107.1:c.1589+513A>G
LPP transcript variant X13	XM_047448108.1:c.1589+513=	XM_047448108.1:c.1589+513A>G
LPP transcript variant X14	XM_047448109.1:c.1589+513=	XM_047448109.1:c.1589+513A>G
LPP transcript variant X15	XM_047448110.1:c.1589+513=	XM_047448110.1:c.1589+513A>G
LPP transcript variant X16	XM_047448111.1:c.1589+513=	XM_047448111.1:c.1589+513A>G
LPP transcript variant X17	XM_047448112.1:c.1589+513=	XM_047448112.1:c.1589+513A>G
LPP transcript variant X18	XM_047448113.1:c.1589+513=	XM_047448113.1:c.1589+513A>G
LPP transcript variant X19	XM_047448114.1:c.1589+513=	XM_047448114.1:c.1589+513A>G
LPP transcript variant X20	XM_047448115.1:c.1589+513=	XM_047448115.1:c.1589+513A>G

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#.

114 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss21903062	Apr 05, 2004 (121)
2	ABI	ss44460386	Mar 14, 2006 (126)
3	ILLUMINA	ss66552450	Nov 29, 2006 (127)
4	ILLUMINA	ss67055214	Nov 29, 2006 (127)
5	ILLUMINA	ss67382019	Nov 29, 2006 (127)
6	CSHL-HAPMAP	ss68380429	Jan 12, 2007 (127)
7	ILLUMINA	ss70418807	May 16, 2007 (127)
8	ILLUMINA	ss70592997	May 25, 2008 (130)
9	ILLUMINA	ss71136943	May 16, 2007 (127)
10	ILLUMINA	ss75275980	Dec 07, 2007 (129)
11	KRIBB_YJKIM	ss85297136	Dec 14, 2007 (138)
12	HUMANGENOME_JCVI	ss96084576	Feb 05, 2009 (130)
13	1000GENOMES	ss112778735	Jan 25, 2009 (130)
14	ILLUMINA	ss121617471	Dec 01, 2009 (131)
15	ENSEMBL	ss133177050	Dec 01, 2009 (131)
16	ILLUMINA	ss153313372	Dec 01, 2009 (131)
17	ILLUMINA	ss159243743	Dec 01, 2009 (131)
18	ILLUMINA	ss160315188	Dec 01, 2009 (131)
19	ILLUMINA	ss170282798	Jul 04, 2010 (132)
20	ILLUMINA	ss172316303	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss206030663	Jul 04, 2010 (132)
22	1000GENOMES	ss211329268	Jul 14, 2010 (132)
23	1000GENOMES	ss220644369	Jul 14, 2010 (132)
24	1000GENOMES	ss232189198	Jul 14, 2010 (132)
25	PJP	ss292996212	May 09, 2011 (134)
26	ILLUMINA	ss479864756	May 04, 2012 (137)
27	ILLUMINA	ss479872479	May 04, 2012 (137)
28	ILLUMINA	ss480477341	Sep 08, 2015 (146)
29	ILLUMINA	ss484730917	May 04, 2012 (137)
30	ILLUMINA	ss536830086	Sep 08, 2015 (146)
31	TISHKOFF	ss557195627	Apr 25, 2013 (138)
32	ILLUMINA	ss778420437	Sep 08, 2015 (146)
33	ILLUMINA	ss782812141	Sep 08, 2015 (146)
34	ILLUMINA	ss783777356	Sep 08, 2015 (146)
35	ILLUMINA	ss825388081	Jul 19, 2016 (147)
36	ILLUMINA	ss832065353	Sep 08, 2015 (146)
37	ILLUMINA	ss832756046	Jul 13, 2019 (153)
38	ILLUMINA	ss833875792	Sep 08, 2015 (146)
39	EVA-GONL	ss979580462	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1071148326	Aug 21, 2014 (142)
41	1000GENOMES	ss1307750446	Aug 21, 2014 (142)
42	HAMMER_LAB	ss1397363005	Sep 08, 2015 (146)
43	DDI	ss1429708335	Apr 01, 2015 (144)
44	EVA_GENOME_DK	ss1580343936	Apr 01, 2015 (144)
45	EVA_DECODE	ss1589079173	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1609061318	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1652055351	Apr 01, 2015 (144)
48	EVA_SVP	ss1712640049	Apr 01, 2015 (144)
49	ILLUMINA	ss1752458110	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1922801492	Feb 12, 2016 (147)
51	ILLUMINA	ss1946105388	Feb 12, 2016 (147)
52	ILLUMINA	ss1958639998	Feb 12, 2016 (147)
53	JJLAB	ss2021976663	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2150076742	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2259166301	Dec 20, 2016 (150)
56	ILLUMINA	ss2634059281	Nov 08, 2017 (151)
57	ILLUMINA	ss2634059282	Nov 08, 2017 (151)
58	ILLUMINA	ss2710995251	Nov 08, 2017 (151)
59	GNOMAD	ss2803703665	Nov 08, 2017 (151)
60	AFFY	ss2985279896	Nov 08, 2017 (151)
61	AFFY	ss2985903614	Nov 08, 2017 (151)
62	SWEGEN	ss2993834698	Nov 08, 2017 (151)
63	ILLUMINA	ss3022325750	Nov 08, 2017 (151)
64	BIOINF_KMB_FNS_UNIBA	ss3024757307	Nov 08, 2017 (151)
65	CSHL	ss3345449244	Nov 08, 2017 (151)
66	ILLUMINA	ss3625834001	Oct 12, 2018 (152)
67	ILLUMINA	ss3628863494	Oct 12, 2018 (152)
68	ILLUMINA	ss3631999843	Oct 12, 2018 (152)
69	ILLUMINA	ss3633320944	Oct 12, 2018 (152)
70	ILLUMINA	ss3634039191	Oct 12, 2018 (152)
71	ILLUMINA	ss3634933459	Oct 12, 2018 (152)
72	ILLUMINA	ss3635722490	Oct 12, 2018 (152)
73	ILLUMINA	ss3636631876	Oct 12, 2018 (152)
74	ILLUMINA	ss3637474934	Oct 12, 2018 (152)
75	ILLUMINA	ss3638463127	Oct 12, 2018 (152)
76	ILLUMINA	ss3639234293	Oct 12, 2018 (152)
77	ILLUMINA	ss3639637020	Oct 12, 2018 (152)
78	ILLUMINA	ss3640640755	Oct 12, 2018 (152)
79	ILLUMINA	ss3641453354	Oct 12, 2018 (152)
80	ILLUMINA	ss3643416276	Oct 12, 2018 (152)
81	ILLUMINA	ss3644838074	Oct 12, 2018 (152)
82	URBANLAB	ss3647611026	Oct 12, 2018 (152)
83	ILLUMINA	ss3652807502	Oct 12, 2018 (152)
84	ILLUMINA	ss3654050057	Oct 12, 2018 (152)
85	EGCUT_WGS	ss3661793298	Jul 13, 2019 (153)
86	EVA_DECODE	ss3711063761	Jul 13, 2019 (153)
87	ILLUMINA	ss3726092684	Jul 13, 2019 (153)
88	ACPOP	ss3730697055	Jul 13, 2019 (153)
89	ILLUMINA	ss3744228007	Jul 13, 2019 (153)
90	ILLUMINA	ss3745233428	Jul 13, 2019 (153)
91	EVA	ss3761178778	Jul 13, 2019 (153)
92	PAGE_CC	ss3771092067	Jul 13, 2019 (153)
93	ILLUMINA	ss3772728551	Jul 13, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3804315332	Jul 13, 2019 (153)
95	EVA	ss3828278737	Apr 25, 2020 (154)
96	EVA	ss3837571070	Apr 25, 2020 (154)
97	EVA	ss3843003824	Apr 25, 2020 (154)
98	HGDP	ss3847736254	Apr 25, 2020 (154)
99	SGDP_PRJ	ss3857816278	Apr 25, 2020 (154)
100	EVA	ss3985043578	Apr 26, 2021 (155)
101	EVA	ss4017125120	Apr 26, 2021 (155)
102	TOPMED	ss4597509390	Apr 26, 2021 (155)
103	1000G_HIGH_COVERAGE	ss5257424759	Oct 17, 2022 (156)
104	EVA	ss5345823607	Oct 17, 2022 (156)
105	HUGCELL_USP	ss5456428627	Oct 17, 2022 (156)
106	EVA	ss5507345282	Oct 17, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5537594445	Oct 17, 2022 (156)
108	SANFORD_IMAGENETICS	ss5624542310	Oct 17, 2022 (156)
109	SANFORD_IMAGENETICS	ss5633988077	Oct 17, 2022 (156)
110	TOMMO_GENOMICS	ss5696792256	Oct 17, 2022 (156)
111	EVA	ss5799602957	Oct 17, 2022 (156)
112	EVA	ss5827019359	Oct 17, 2022 (156)
113	EVA	ss5872603256	Oct 17, 2022 (156)
114	EVA	ss5962372282	Oct 17, 2022 (156)
115	1000Genomes	NC_000003.11 - 188584679	Oct 12, 2018 (152)
116	1000Genomes_30x	NC_000003.12 - 188866891	Oct 17, 2022 (156)
117	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 188584679	Oct 12, 2018 (152)
118	Genome-wide autozygosity in Daghestan	NC_000003.10 - 190067373	Apr 25, 2020 (154)
119	Genetic variation in the Estonian population	NC_000003.11 - 188584679	Oct 12, 2018 (152)
120	The Danish reference pan genome	NC_000003.11 - 188584679	Apr 25, 2020 (154)
121	gnomAD - Genomes	NC_000003.12 - 188866891	Apr 26, 2021 (155)
122	Genome of the Netherlands Release 5	NC_000003.11 - 188584679	Apr 25, 2020 (154)
123	HGDP-CEPH-db Supplement 1	NC_000003.10 - 190067373	Apr 25, 2020 (154)
124	HapMap	NC_000003.12 - 188866891	Apr 25, 2020 (154)
125	Northern Sweden	NC_000003.11 - 188584679	Jul 13, 2019 (153)
126	The PAGE Study	NC_000003.12 - 188866891	Jul 13, 2019 (153)
127	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000003.11 - 188584679	Apr 26, 2021 (155)
128	Qatari	NC_000003.11 - 188584679	Apr 25, 2020 (154)
129	SGDP_PRJ	NC_000003.11 - 188584679	Apr 25, 2020 (154)
130	Siberian	NC_000003.11 - 188584679	Apr 25, 2020 (154)
131	14KJPN	NC_000003.12 - 188866891	Oct 17, 2022 (156)
132	TopMed	NC_000003.12 - 188866891	Apr 26, 2021 (155)
133	UK 10K study - Twins	NC_000003.11 - 188584679	Oct 12, 2018 (152)
134	A Vietnamese Genetic Variation Database	NC_000003.11 - 188584679	Jul 13, 2019 (153)
135	ALFA	NC_000003.12 - 188866891	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)
rs56843693	Apr 25, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639234293, ss3639637020	NC_000003.9:190067380:A:G	NC_000003.12:188866890:A:G	(self)
338688, 414146, ss112778735, ss206030663, ss211329268, ss292996212, ss479864756, ss825388081, ss1397363005, ss1589079173, ss1712640049, ss3643416276, ss3847736254	NC_000003.10:190067372:A:G	NC_000003.12:188866890:A:G	(self)
19075406, 10635125, 7531546, 6508875, 4671427, 3981920, 269505, 4843422, 9833258, 2593096, 10635125, 2324159, ss220644369, ss232189198, ss479872479, ss480477341, ss484730917, ss536830086, ss557195627, ss778420437, ss782812141, ss783777356, ss832065353, ss832756046, ss833875792, ss979580462, ss1071148326, ss1307750446, ss1429708335, ss1580343936, ss1609061318, ss1652055351, ss1752458110, ss1922801492, ss1946105388, ss1958639998, ss2021976663, ss2150076742, ss2634059281, ss2634059282, ss2710995251, ss2803703665, ss2985279896, ss2985903614, ss2993834698, ss3022325750, ss3345449244, ss3625834001, ss3628863494, ss3631999843, ss3633320944, ss3634039191, ss3634933459, ss3635722490, ss3636631876, ss3637474934, ss3638463127, ss3640640755, ss3641453354, ss3644838074, ss3652807502, ss3654050057, ss3661793298, ss3730697055, ss3744228007, ss3745233428, ss3761178778, ss3772728551, ss3828278737, ss3837571070, ss3857816278, ss3985043578, ss4017125120, ss5345823607, ss5507345282, ss5624542310, ss5633988077, ss5799602957, ss5827019359, ss5962372282	NC_000003.11:188584678:A:G	NC_000003.12:188866890:A:G	(self)
25120380, 135494185, 2531069, 313536, 30629360, 434886945, 6116015987, ss2259166301, ss3024757307, ss3647611026, ss3711063761, ss3726092684, ss3771092067, ss3804315332, ss3843003824, ss4597509390, ss5257424759, ss5456428627, ss5537594445, ss5696792256, ss5872603256	NC_000003.12:188866890:A:G	NC_000003.12:188866890:A:G	(self)
ss21903062	NT_005612.14:95079836:A:G	NC_000003.12:188866890:A:G	(self)
ss44460386, ss66552450, ss67055214, ss67382019, ss68380429, ss70418807, ss70592997, ss71136943, ss75275980, ss85297136, ss96084576, ss121617471, ss133177050, ss153313372, ss159243743, ss160315188, ss170282798, ss172316303	NT_005612.16:95079824:A:G	NC_000003.12:188866890:A:G	(self)

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

1 citation for rs13067593

PMID	Title	Author	Year	Journal
22610502	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Kennedy RB et al.	2012	Human genetics

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

rs13067593