Name: rs575952
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.

rs575952

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:83552508 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.485304 (128455/264690, TOPMED)
G=0.466314 (65229/139882, GnomAD)
G=0.42542 (17716/41644, ALFA) (+ 16 more)
A=0.36698 (10370/28258, 14KJPN)
A=0.36770 (6162/16758, 8.3KJPN)
A=0.4788 (3066/6404, 1000G_30x)
A=0.4834 (2421/5008, 1000G)
G=0.3783 (1695/4480, Estonian)
G=0.4159 (1603/3854, ALSPAC)
G=0.4221 (1565/3708, TWINSUK)
A=0.4392 (1287/2930, KOREAN)
G=0.373 (372/998, GoNL)
G=0.438 (263/600, NorthernSweden)
A=0.276 (118/428, SGDP_PRJ)
G=0.497 (164/330, HapMap)
G=0.421 (91/216, Qatari)
G=0.411 (88/214, Vietnamese)
G=0.42 (17/40, GENOME_DK)
A=0.30 (12/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DLG2 : Intron Variant
LOC107984425 : 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	41644	A=0.57458	G=0.42542
European	Sub	33734	A=0.58887	G=0.41113
African	Sub	2946	A=0.4695	G=0.5305
African Others	Sub	114	A=0.447	G=0.553
African American	Sub	2832	A=0.4703	G=0.5297
Asian	Sub	112	A=0.482	G=0.518
East Asian	Sub	86	A=0.48	G=0.52
Other Asian	Sub	26	A=0.50	G=0.50
Latin American 1	Sub	146	A=0.479	G=0.521
Latin American 2	Sub	610	A=0.397	G=0.603
South Asian	Sub	98	A=0.48	G=0.52
Other	Sub	3998	A=0.5670	G=0.4330

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.514696	G=0.485304
gnomAD - Genomes	Global	Study-wide	139882	A=0.533686	G=0.466314
gnomAD - Genomes	European	Sub	75766	A=0.59623	G=0.40377
gnomAD - Genomes	African	Sub	41906	A=0.45478	G=0.54522
gnomAD - Genomes	American	Sub	13622	A=0.43709	G=0.56291
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.5289	G=0.4711
gnomAD - Genomes	East Asian	Sub	3120	A=0.5006	G=0.4994
gnomAD - Genomes	Other	Sub	2146	A=0.5349	G=0.4651
Allele Frequency Aggregator	Total	Global	41644	A=0.57458	G=0.42542
Allele Frequency Aggregator	European	Sub	33734	A=0.58887	G=0.41113
Allele Frequency Aggregator	Other	Sub	3998	A=0.5670	G=0.4330
Allele Frequency Aggregator	African	Sub	2946	A=0.4695	G=0.5305
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.397	G=0.603
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.479	G=0.521
Allele Frequency Aggregator	Asian	Sub	112	A=0.482	G=0.518
Allele Frequency Aggregator	South Asian	Sub	98	A=0.48	G=0.52
14KJPN	JAPANESE	Study-wide	28258	A=0.36698	G=0.63302
8.3KJPN	JAPANESE	Study-wide	16758	A=0.36770	G=0.63230
1000Genomes_30x	Global	Study-wide	6404	A=0.4788	G=0.5212
1000Genomes_30x	African	Sub	1786	A=0.4261	G=0.5739
1000Genomes_30x	Europe	Sub	1266	A=0.5956	G=0.4044
1000Genomes_30x	South Asian	Sub	1202	A=0.5050	G=0.4950
1000Genomes_30x	East Asian	Sub	1170	A=0.4889	G=0.5111
1000Genomes_30x	American	Sub	980	A=0.380	G=0.620
1000Genomes	Global	Study-wide	5008	A=0.4834	G=0.5166
1000Genomes	African	Sub	1322	A=0.4297	G=0.5703
1000Genomes	East Asian	Sub	1008	A=0.4861	G=0.5139
1000Genomes	Europe	Sub	1006	A=0.6044	G=0.3956
1000Genomes	South Asian	Sub	978	A=0.506	G=0.494
1000Genomes	American	Sub	694	A=0.375	G=0.625
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6217	G=0.3783
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5841	G=0.4159
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5779	G=0.4221
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4392	C=0.0000, G=0.5608
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.627	G=0.373
Northern Sweden	ACPOP	Study-wide	600	A=0.562	G=0.438
SGDP_PRJ	Global	Study-wide	428	A=0.276	G=0.724
HapMap	Global	Study-wide	330	A=0.503	G=0.497
HapMap	African	Sub	120	A=0.500	G=0.500
HapMap	American	Sub	120	A=0.633	G=0.367
HapMap	Asian	Sub	90	A=0.33	G=0.67
Qatari	Global	Study-wide	216	A=0.579	G=0.421
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.589	G=0.411
The Danish reference pan genome	Danish	Study-wide	40	A=0.57	G=0.42
Siberian	Global	Study-wide	40	A=0.30	G=0.70

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 11	NC_000011.10:g.83552508A>C
GRCh38.p14 chr 11	NC_000011.10:g.83552508A>G
GRCh37.p13 chr 11	NC_000011.9:g.83263551A>C
GRCh37.p13 chr 11	NC_000011.9:g.83263551A>G
DLG2 RefSeqGene	NG_021375.2:g.2081028T>G
DLG2 RefSeqGene	NG_021375.2:g.2081028T>C

Gene: DLG2, discs large MAGUK scaffold protein 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DLG2 transcript variant 1	NM_001142699.3:c.1941-106… NM_001142699.3:c.1941-10650T>G	N/A	Intron Variant
DLG2 transcript variant 3	NM_001142700.2:c.1317-106… NM_001142700.2:c.1317-10650T>G	N/A	Intron Variant
DLG2 transcript variant 4	NM_001142702.2:c.72-10650… NM_001142702.2:c.72-10650T>G	N/A	Intron Variant
DLG2 transcript variant 5	NM_001206769.2:c.1743-106… NM_001206769.2:c.1743-10650T>G	N/A	Intron Variant
DLG2 transcript variant 6	NM_001300983.1:c.1626-106… NM_001300983.1:c.1626-10650T>G	N/A	Intron Variant
DLG2 transcript variant 7	NM_001351274.2:c.1977-106… NM_001351274.2:c.1977-10650T>G	N/A	Intron Variant
DLG2 transcript variant 8	NM_001351275.2:c.1974-106… NM_001351275.2:c.1974-10650T>G	N/A	Intron Variant
DLG2 transcript variant 9	NM_001351276.2:c.1683-106… NM_001351276.2:c.1683-10650T>G	N/A	Intron Variant
DLG2 transcript variant 2	NM_001364.3:c.1626-10650T… NM_001364.3:c.1626-10650T>G	N/A	Intron Variant
DLG2 transcript variant 10	NM_001377966.1:c.1743-106… NM_001377966.1:c.1743-10650T>G	N/A	Intron Variant
DLG2 transcript variant 11	NM_001377967.1:c.1743-106… NM_001377967.1:c.1743-10650T>G	N/A	Intron Variant
DLG2 transcript variant 12	NM_001377968.1:c.1626-106… NM_001377968.1:c.1626-10650T>G	N/A	Intron Variant
DLG2 transcript variant 13	NM_001377970.1:c.1587-106… NM_001377970.1:c.1587-10650T>G	N/A	Intron Variant
DLG2 transcript variant 14	NM_001377971.1:c.1587-106… NM_001377971.1:c.1587-10650T>G	N/A	Intron Variant
DLG2 transcript variant 15	NM_001377972.1:c.1527-106… NM_001377972.1:c.1527-10650T>G	N/A	Intron Variant
DLG2 transcript variant 16	NM_001377973.1:c.1500-106… NM_001377973.1:c.1500-10650T>G	N/A	Intron Variant
DLG2 transcript variant 17	NM_001377974.1:c.1371-106… NM_001377974.1:c.1371-10650T>G	N/A	Intron Variant
DLG2 transcript variant 19	NM_001377976.1:c.159-1065… NM_001377976.1:c.159-10650T>G	N/A	Intron Variant
DLG2 transcript variant 20	NM_001377977.1:c.153-1065… NM_001377977.1:c.153-10650T>G	N/A	Intron Variant
DLG2 transcript variant 21	NM_001377978.1:c.72-10650… NM_001377978.1:c.72-10650T>G	N/A	Intron Variant
DLG2 transcript variant 22	NM_001377979.1:c.72-10650… NM_001377979.1:c.72-10650T>G	N/A	Intron Variant
DLG2 transcript variant 23	NM_001377980.1:c.72-10650… NM_001377980.1:c.72-10650T>G	N/A	Intron Variant
DLG2 transcript variant 24	NM_001377981.1:c.72-10650… NM_001377981.1:c.72-10650T>G	N/A	Intron Variant
DLG2 transcript variant 25	NM_001377982.1:c.72-19725… NM_001377982.1:c.72-19725T>G	N/A	Intron Variant
DLG2 transcript variant 18	NM_001377975.1:c.	N/A	Genic Downstream Transcript Variant
DLG2 transcript variant 26	NM_001377983.1:c.	N/A	Genic Downstream Transcript Variant
DLG2 transcript variant 27	NR_165353.1:n.	N/A	Intron Variant
DLG2 transcript variant X26	XM_005273810.5:c.1527-106… XM_005273810.5:c.1527-10650T>G	N/A	Intron Variant
DLG2 transcript variant X15	XM_011544782.3:c.1689-106… XM_011544782.3:c.1689-10650T>G	N/A	Intron Variant
DLG2 transcript variant X2	XM_017017255.3:c.2052-106… XM_017017255.3:c.2052-10650T>G	N/A	Intron Variant
DLG2 transcript variant X3	XM_017017256.3:c.2052-106… XM_017017256.3:c.2052-10650T>G	N/A	Intron Variant
DLG2 transcript variant X5	XM_017017257.3:c.2049-106… XM_017017257.3:c.2049-10650T>G	N/A	Intron Variant
DLG2 transcript variant X8	XM_017017258.2:c.1929-106… XM_017017258.2:c.1929-10650T>G	N/A	Intron Variant
DLG2 transcript variant X11	XM_017017262.2:c.1743-106… XM_017017262.2:c.1743-10650T>G	N/A	Intron Variant
DLG2 transcript variant X12	XM_017017263.2:c.1689-106… XM_017017263.2:c.1689-10650T>G	N/A	Intron Variant
DLG2 transcript variant X13	XM_017017264.3:c.1686-106… XM_017017264.3:c.1686-10650T>G	N/A	Intron Variant
DLG2 transcript variant X14	XM_017017265.3:c.1683-106… XM_017017265.3:c.1683-10650T>G	N/A	Intron Variant
DLG2 transcript variant X17	XM_017017267.2:c.1626-106… XM_017017267.2:c.1626-10650T>G	N/A	Intron Variant
DLG2 transcript variant X18	XM_017017268.2:c.1623-106… XM_017017268.2:c.1623-10650T>G	N/A	Intron Variant
DLG2 transcript variant X19	XM_017017269.2:c.1614-106… XM_017017269.2:c.1614-10650T>G	N/A	Intron Variant
DLG2 transcript variant X20	XM_017017270.2:c.1689-106… XM_017017270.2:c.1689-10650T>G	N/A	Intron Variant
DLG2 transcript variant X21	XM_017017271.3:c.1686-106… XM_017017271.3:c.1686-10650T>G	N/A	Intron Variant
DLG2 transcript variant X22	XM_017017273.3:c.1587-106… XM_017017273.3:c.1587-10650T>G	N/A	Intron Variant
DLG2 transcript variant X23	XM_017017276.2:c.1614-106… XM_017017276.2:c.1614-10650T>G	N/A	Intron Variant
DLG2 transcript variant X24	XM_017017277.2:c.1500-106… XM_017017277.2:c.1500-10650T>G	N/A	Intron Variant
DLG2 transcript variant X28	XM_017017279.2:c.1533-106… XM_017017279.2:c.1533-10650T>G	N/A	Intron Variant
DLG2 transcript variant X30	XM_017017280.3:c.1530-106… XM_017017280.3:c.1530-10650T>G	N/A	Intron Variant
DLG2 transcript variant X29	XM_017017281.3:c.1530-106… XM_017017281.3:c.1530-10650T>G	N/A	Intron Variant
DLG2 transcript variant X31	XM_017017284.2:c.1377-106… XM_017017284.2:c.1377-10650T>G	N/A	Intron Variant
DLG2 transcript variant X32	XM_017017285.2:c.1458-106… XM_017017285.2:c.1458-10650T>G	N/A	Intron Variant
DLG2 transcript variant X35	XM_017017287.2:c.228-1065… XM_017017287.2:c.228-10650T>G	N/A	Intron Variant
DLG2 transcript variant X36	XM_017017289.2:c.153-1065… XM_017017289.2:c.153-10650T>G	N/A	Intron Variant
DLG2 transcript variant X37	XM_017017290.2:c.72-10650… XM_017017290.2:c.72-10650T>G	N/A	Intron Variant
DLG2 transcript variant X1	XM_047426494.1:c.2091-106… XM_047426494.1:c.2091-10650T>G	N/A	Intron Variant
DLG2 transcript variant X4	XM_047426495.1:c.2091-106… XM_047426495.1:c.2091-10650T>G	N/A	Intron Variant
DLG2 transcript variant X6	XM_047426496.1:c.2091-106… XM_047426496.1:c.2091-10650T>G	N/A	Intron Variant
DLG2 transcript variant X7	XM_047426497.1:c.1977-106… XM_047426497.1:c.1977-10650T>G	N/A	Intron Variant
DLG2 transcript variant X9	XM_047426498.1:c.1935-106… XM_047426498.1:c.1935-10650T>G	N/A	Intron Variant
DLG2 transcript variant X10	XM_047426499.1:c.1821-106… XM_047426499.1:c.1821-10650T>G	N/A	Intron Variant
DLG2 transcript variant X16	XM_047426500.1:c.1686-106… XM_047426500.1:c.1686-10650T>G	N/A	Intron Variant
DLG2 transcript variant X25	XM_047426502.1:c.1530-106… XM_047426502.1:c.1530-10650T>G	N/A	Intron Variant
DLG2 transcript variant X27	XM_047426503.1:c.1500-106… XM_047426503.1:c.1500-10650T>G	N/A	Intron Variant
DLG2 transcript variant X33	XM_047426505.1:c.1344-106… XM_047426505.1:c.1344-10650T>G	N/A	Intron Variant
DLG2 transcript variant X34	XM_047426506.1:c.1686-106… XM_047426506.1:c.1686-10650T>G	N/A	Intron Variant

Gene: LOC107984425, uncharacterized LOC107984425 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107984425 transcript variant X2	XR_001748523.2:n.	N/A	Intron Variant
LOC107984425 transcript variant X1	XR_007062816.1:n.	N/A	Intron Variant
LOC107984425 transcript variant X3	XR_007062817.1: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
GRCh38.p14 chr 11	NC_000011.10:g.83552508=	NC_000011.10:g.83552508A>C	NC_000011.10:g.83552508A>G
GRCh37.p13 chr 11	NC_000011.9:g.83263551=	NC_000011.9:g.83263551A>C	NC_000011.9:g.83263551A>G
DLG2 RefSeqGene	NG_021375.2:g.2081028=	NG_021375.2:g.2081028T>G	NG_021375.2:g.2081028T>C
DLG2 transcript variant 1	NM_001142699.1:c.1941-10650=	NM_001142699.1:c.1941-10650T>G	NM_001142699.1:c.1941-10650T>C
DLG2 transcript variant 1	NM_001142699.3:c.1941-10650=	NM_001142699.3:c.1941-10650T>G	NM_001142699.3:c.1941-10650T>C
DLG2 transcript variant 3	NM_001142700.1:c.1317-10650=	NM_001142700.1:c.1317-10650T>G	NM_001142700.1:c.1317-10650T>C
DLG2 transcript variant 3	NM_001142700.2:c.1317-10650=	NM_001142700.2:c.1317-10650T>G	NM_001142700.2:c.1317-10650T>C
DLG2 transcript variant 4	NM_001142702.1:c.72-10650=	NM_001142702.1:c.72-10650T>G	NM_001142702.1:c.72-10650T>C
DLG2 transcript variant 4	NM_001142702.2:c.72-10650=	NM_001142702.2:c.72-10650T>G	NM_001142702.2:c.72-10650T>C
DLG2 transcript variant 5	NM_001206769.1:c.1743-10650=	NM_001206769.1:c.1743-10650T>G	NM_001206769.1:c.1743-10650T>C
DLG2 transcript variant 5	NM_001206769.2:c.1743-10650=	NM_001206769.2:c.1743-10650T>G	NM_001206769.2:c.1743-10650T>C
DLG2 transcript variant 6	NM_001300983.1:c.1626-10650=	NM_001300983.1:c.1626-10650T>G	NM_001300983.1:c.1626-10650T>C
DLG2 transcript variant 7	NM_001351274.2:c.1977-10650=	NM_001351274.2:c.1977-10650T>G	NM_001351274.2:c.1977-10650T>C
DLG2 transcript variant 8	NM_001351275.2:c.1974-10650=	NM_001351275.2:c.1974-10650T>G	NM_001351275.2:c.1974-10650T>C
DLG2 transcript variant 9	NM_001351276.2:c.1683-10650=	NM_001351276.2:c.1683-10650T>G	NM_001351276.2:c.1683-10650T>C
DLG2 transcript variant 2	NM_001364.3:c.1626-10650=	NM_001364.3:c.1626-10650T>G	NM_001364.3:c.1626-10650T>C
DLG2 transcript variant 10	NM_001377966.1:c.1743-10650=	NM_001377966.1:c.1743-10650T>G	NM_001377966.1:c.1743-10650T>C
DLG2 transcript variant 11	NM_001377967.1:c.1743-10650=	NM_001377967.1:c.1743-10650T>G	NM_001377967.1:c.1743-10650T>C
DLG2 transcript variant 12	NM_001377968.1:c.1626-10650=	NM_001377968.1:c.1626-10650T>G	NM_001377968.1:c.1626-10650T>C
DLG2 transcript variant 13	NM_001377970.1:c.1587-10650=	NM_001377970.1:c.1587-10650T>G	NM_001377970.1:c.1587-10650T>C
DLG2 transcript variant 14	NM_001377971.1:c.1587-10650=	NM_001377971.1:c.1587-10650T>G	NM_001377971.1:c.1587-10650T>C
DLG2 transcript variant 15	NM_001377972.1:c.1527-10650=	NM_001377972.1:c.1527-10650T>G	NM_001377972.1:c.1527-10650T>C
DLG2 transcript variant 16	NM_001377973.1:c.1500-10650=	NM_001377973.1:c.1500-10650T>G	NM_001377973.1:c.1500-10650T>C
DLG2 transcript variant 17	NM_001377974.1:c.1371-10650=	NM_001377974.1:c.1371-10650T>G	NM_001377974.1:c.1371-10650T>C
DLG2 transcript variant 19	NM_001377976.1:c.159-10650=	NM_001377976.1:c.159-10650T>G	NM_001377976.1:c.159-10650T>C
DLG2 transcript variant 20	NM_001377977.1:c.153-10650=	NM_001377977.1:c.153-10650T>G	NM_001377977.1:c.153-10650T>C
DLG2 transcript variant 21	NM_001377978.1:c.72-10650=	NM_001377978.1:c.72-10650T>G	NM_001377978.1:c.72-10650T>C
DLG2 transcript variant 22	NM_001377979.1:c.72-10650=	NM_001377979.1:c.72-10650T>G	NM_001377979.1:c.72-10650T>C
DLG2 transcript variant 23	NM_001377980.1:c.72-10650=	NM_001377980.1:c.72-10650T>G	NM_001377980.1:c.72-10650T>C
DLG2 transcript variant 24	NM_001377981.1:c.72-10650=	NM_001377981.1:c.72-10650T>G	NM_001377981.1:c.72-10650T>C
DLG2 transcript variant 25	NM_001377982.1:c.72-19725=	NM_001377982.1:c.72-19725T>G	NM_001377982.1:c.72-19725T>C
DLG2 transcript variant X1	XM_005273805.1:c.1743-10650=	XM_005273805.1:c.1743-10650T>G	XM_005273805.1:c.1743-10650T>C
DLG2 transcript variant X2	XM_005273806.1:c.1686-10650=	XM_005273806.1:c.1686-10650T>G	XM_005273806.1:c.1686-10650T>C
DLG2 transcript variant X3	XM_005273807.1:c.1686-10650=	XM_005273807.1:c.1686-10650T>G	XM_005273807.1:c.1686-10650T>C
DLG2 transcript variant X4	XM_005273808.1:c.1626-10650=	XM_005273808.1:c.1626-10650T>G	XM_005273808.1:c.1626-10650T>C
DLG2 transcript variant X5	XM_005273809.1:c.1626-10650=	XM_005273809.1:c.1626-10650T>G	XM_005273809.1:c.1626-10650T>C
DLG2 transcript variant X6	XM_005273810.1:c.1527-10650=	XM_005273810.1:c.1527-10650T>G	XM_005273810.1:c.1527-10650T>C
DLG2 transcript variant X26	XM_005273810.5:c.1527-10650=	XM_005273810.5:c.1527-10650T>G	XM_005273810.5:c.1527-10650T>C
DLG2 transcript variant X7	XM_005273811.1:c.1527-10650=	XM_005273811.1:c.1527-10650T>G	XM_005273811.1:c.1527-10650T>C
DLG2 transcript variant X8	XM_005273812.1:c.1743-10650=	XM_005273812.1:c.1743-10650T>G	XM_005273812.1:c.1743-10650T>C
DLG2 transcript variant X15	XM_011544782.3:c.1689-10650=	XM_011544782.3:c.1689-10650T>G	XM_011544782.3:c.1689-10650T>C
DLG2 transcript variant X2	XM_017017255.3:c.2052-10650=	XM_017017255.3:c.2052-10650T>G	XM_017017255.3:c.2052-10650T>C
DLG2 transcript variant X3	XM_017017256.3:c.2052-10650=	XM_017017256.3:c.2052-10650T>G	XM_017017256.3:c.2052-10650T>C
DLG2 transcript variant X5	XM_017017257.3:c.2049-10650=	XM_017017257.3:c.2049-10650T>G	XM_017017257.3:c.2049-10650T>C
DLG2 transcript variant X8	XM_017017258.2:c.1929-10650=	XM_017017258.2:c.1929-10650T>G	XM_017017258.2:c.1929-10650T>C
DLG2 transcript variant X11	XM_017017262.2:c.1743-10650=	XM_017017262.2:c.1743-10650T>G	XM_017017262.2:c.1743-10650T>C
DLG2 transcript variant X12	XM_017017263.2:c.1689-10650=	XM_017017263.2:c.1689-10650T>G	XM_017017263.2:c.1689-10650T>C
DLG2 transcript variant X13	XM_017017264.3:c.1686-10650=	XM_017017264.3:c.1686-10650T>G	XM_017017264.3:c.1686-10650T>C
DLG2 transcript variant X14	XM_017017265.3:c.1683-10650=	XM_017017265.3:c.1683-10650T>G	XM_017017265.3:c.1683-10650T>C
DLG2 transcript variant X17	XM_017017267.2:c.1626-10650=	XM_017017267.2:c.1626-10650T>G	XM_017017267.2:c.1626-10650T>C
DLG2 transcript variant X18	XM_017017268.2:c.1623-10650=	XM_017017268.2:c.1623-10650T>G	XM_017017268.2:c.1623-10650T>C
DLG2 transcript variant X19	XM_017017269.2:c.1614-10650=	XM_017017269.2:c.1614-10650T>G	XM_017017269.2:c.1614-10650T>C
DLG2 transcript variant X20	XM_017017270.2:c.1689-10650=	XM_017017270.2:c.1689-10650T>G	XM_017017270.2:c.1689-10650T>C
DLG2 transcript variant X21	XM_017017271.3:c.1686-10650=	XM_017017271.3:c.1686-10650T>G	XM_017017271.3:c.1686-10650T>C
DLG2 transcript variant X22	XM_017017273.3:c.1587-10650=	XM_017017273.3:c.1587-10650T>G	XM_017017273.3:c.1587-10650T>C
DLG2 transcript variant X23	XM_017017276.2:c.1614-10650=	XM_017017276.2:c.1614-10650T>G	XM_017017276.2:c.1614-10650T>C
DLG2 transcript variant X24	XM_017017277.2:c.1500-10650=	XM_017017277.2:c.1500-10650T>G	XM_017017277.2:c.1500-10650T>C
DLG2 transcript variant X28	XM_017017279.2:c.1533-10650=	XM_017017279.2:c.1533-10650T>G	XM_017017279.2:c.1533-10650T>C
DLG2 transcript variant X30	XM_017017280.3:c.1530-10650=	XM_017017280.3:c.1530-10650T>G	XM_017017280.3:c.1530-10650T>C
DLG2 transcript variant X29	XM_017017281.3:c.1530-10650=	XM_017017281.3:c.1530-10650T>G	XM_017017281.3:c.1530-10650T>C
DLG2 transcript variant X31	XM_017017284.2:c.1377-10650=	XM_017017284.2:c.1377-10650T>G	XM_017017284.2:c.1377-10650T>C
DLG2 transcript variant X32	XM_017017285.2:c.1458-10650=	XM_017017285.2:c.1458-10650T>G	XM_017017285.2:c.1458-10650T>C
DLG2 transcript variant X35	XM_017017287.2:c.228-10650=	XM_017017287.2:c.228-10650T>G	XM_017017287.2:c.228-10650T>C
DLG2 transcript variant X36	XM_017017289.2:c.153-10650=	XM_017017289.2:c.153-10650T>G	XM_017017289.2:c.153-10650T>C
DLG2 transcript variant X37	XM_017017290.2:c.72-10650=	XM_017017290.2:c.72-10650T>G	XM_017017290.2:c.72-10650T>C
DLG2 transcript variant X1	XM_047426494.1:c.2091-10650=	XM_047426494.1:c.2091-10650T>G	XM_047426494.1:c.2091-10650T>C
DLG2 transcript variant X4	XM_047426495.1:c.2091-10650=	XM_047426495.1:c.2091-10650T>G	XM_047426495.1:c.2091-10650T>C
DLG2 transcript variant X6	XM_047426496.1:c.2091-10650=	XM_047426496.1:c.2091-10650T>G	XM_047426496.1:c.2091-10650T>C
DLG2 transcript variant X7	XM_047426497.1:c.1977-10650=	XM_047426497.1:c.1977-10650T>G	XM_047426497.1:c.1977-10650T>C
DLG2 transcript variant X9	XM_047426498.1:c.1935-10650=	XM_047426498.1:c.1935-10650T>G	XM_047426498.1:c.1935-10650T>C
DLG2 transcript variant X10	XM_047426499.1:c.1821-10650=	XM_047426499.1:c.1821-10650T>G	XM_047426499.1:c.1821-10650T>C
DLG2 transcript variant X16	XM_047426500.1:c.1686-10650=	XM_047426500.1:c.1686-10650T>G	XM_047426500.1:c.1686-10650T>C
DLG2 transcript variant X25	XM_047426502.1:c.1530-10650=	XM_047426502.1:c.1530-10650T>G	XM_047426502.1:c.1530-10650T>C
DLG2 transcript variant X27	XM_047426503.1:c.1500-10650=	XM_047426503.1:c.1500-10650T>G	XM_047426503.1:c.1500-10650T>C
DLG2 transcript variant X33	XM_047426505.1:c.1344-10650=	XM_047426505.1:c.1344-10650T>G	XM_047426505.1:c.1344-10650T>C
DLG2 transcript variant X34	XM_047426506.1:c.1686-10650=	XM_047426506.1:c.1686-10650T>G	XM_047426506.1:c.1686-10650T>C

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#.

69 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss747379	Aug 11, 2000 (83)
2	BCM_SSAHASNP	ss10695893	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss19904906	Feb 27, 2004 (120)
4	SSAHASNP	ss20798906	Apr 05, 2004 (121)
5	PERLEGEN	ss23932805	Sep 20, 2004 (123)
6	BCMHGSC_JDW	ss88659395	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss97402412	Feb 06, 2009 (130)
8	1000GENOMES	ss110759045	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss119921253	Dec 01, 2009 (131)
10	ENSEMBL	ss132686704	Dec 01, 2009 (131)
11	ENSEMBL	ss137635342	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss175209213	Jul 04, 2010 (132)
13	BUSHMAN	ss202963349	Jul 04, 2010 (132)
14	BCM-HGSC-SUB	ss207793689	Jul 04, 2010 (132)
15	1000GENOMES	ss211163909	Jul 14, 2010 (132)
16	1000GENOMES	ss225352412	Jul 14, 2010 (132)
17	1000GENOMES	ss235637561	Jul 15, 2010 (132)
18	1000GENOMES	ss242253905	Jul 15, 2010 (132)
19	BL	ss255309501	May 09, 2011 (134)
20	GMI	ss281089817	May 04, 2012 (137)
21	PJP	ss291085827	May 09, 2011 (134)
22	TISHKOFF	ss562698174	Apr 25, 2013 (138)
23	SSMP	ss658210014	Apr 25, 2013 (138)
24	EVA-GONL	ss988746832	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1077886447	Aug 21, 2014 (142)
26	1000GENOMES	ss1342157667	Aug 21, 2014 (142)
27	DDI	ss1426695604	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1575830545	Apr 01, 2015 (144)
29	EVA_DECODE	ss1598410480	Apr 01, 2015 (144)
30	EVA_UK10K_ALSPAC	ss1627039963	Apr 01, 2015 (144)
31	EVA_UK10K_TWINSUK	ss1670033996	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1806906963	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1932106057	Feb 12, 2016 (147)
34	GENOMED	ss1967407082	Jul 19, 2016 (147)
35	JJLAB	ss2026795178	Sep 14, 2016 (149)
36	USC_VALOUEV	ss2155107506	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2184089929	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2627871138	Nov 08, 2017 (151)
39	GRF	ss2699404585	Nov 08, 2017 (151)
40	GNOMAD	ss2902171625	Nov 08, 2017 (151)
41	SWEGEN	ss3008452595	Nov 08, 2017 (151)
42	BIOINF_KMB_FNS_UNIBA	ss3027195618	Nov 08, 2017 (151)
43	CSHL	ss3349697001	Nov 08, 2017 (151)
44	URBANLAB	ss3649656321	Oct 12, 2018 (152)
45	EGCUT_WGS	ss3675774343	Jul 13, 2019 (153)
46	EVA_DECODE	ss3692214823	Jul 13, 2019 (153)
47	ACPOP	ss3738361784	Jul 13, 2019 (153)
48	ILLUMINA	ss3744385407	Jul 13, 2019 (153)
49	EVA	ss3749564810	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3814898317	Jul 13, 2019 (153)
51	EVA	ss3832735002	Apr 26, 2020 (154)
52	EVA	ss3839925966	Apr 26, 2020 (154)
53	EVA	ss3845406496	Apr 26, 2020 (154)
54	SGDP_PRJ	ss3876713480	Apr 26, 2020 (154)
55	KRGDB	ss3925132714	Apr 26, 2020 (154)
56	TOPMED	ss4892905138	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5202989650	Apr 26, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5288197827	Oct 16, 2022 (156)
59	EVA	ss5400970755	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5483277987	Oct 16, 2022 (156)
61	EVA	ss5510439591	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5584306487	Oct 16, 2022 (156)
63	SANFORD_IMAGENETICS	ss5651661690	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5751184936	Oct 16, 2022 (156)
65	YY_MCH	ss5812601936	Oct 16, 2022 (156)
66	EVA	ss5836954370	Oct 16, 2022 (156)
67	EVA	ss5850063272	Oct 16, 2022 (156)
68	EVA	ss5920854647	Oct 16, 2022 (156)
69	EVA	ss5942980911	Oct 16, 2022 (156)
70	1000Genomes	NC_000011.9 - 83263551	Oct 12, 2018 (152)
71	1000Genomes_30x	NC_000011.10 - 83552508	Oct 16, 2022 (156)
72	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 83263551	Oct 12, 2018 (152)
73	Genetic variation in the Estonian population	NC_000011.9 - 83263551	Oct 12, 2018 (152)
74	The Danish reference pan genome	NC_000011.9 - 83263551	Apr 26, 2020 (154)
75	gnomAD - Genomes	NC_000011.10 - 83552508	Apr 26, 2021 (155)
76	Genome of the Netherlands Release 5	NC_000011.9 - 83263551	Apr 26, 2020 (154)
77	HapMap	NC_000011.10 - 83552508	Apr 26, 2020 (154)
78	KOREAN population from KRGDB	NC_000011.9 - 83263551	Apr 26, 2020 (154)
79	Northern Sweden	NC_000011.9 - 83263551	Jul 13, 2019 (153)
80	Qatari	NC_000011.9 - 83263551	Apr 26, 2020 (154)
81	SGDP_PRJ	NC_000011.9 - 83263551	Apr 26, 2020 (154)
82	Siberian	NC_000011.9 - 83263551	Apr 26, 2020 (154)
83	8.3KJPN	NC_000011.9 - 83263551	Apr 26, 2021 (155)
84	14KJPN	NC_000011.10 - 83552508	Oct 16, 2022 (156)
85	TopMed	NC_000011.10 - 83552508	Apr 26, 2021 (155)
86	UK 10K study - Twins	NC_000011.9 - 83263551	Oct 12, 2018 (152)
87	A Vietnamese Genetic Variation Database	NC_000011.9 - 83263551	Jul 13, 2019 (153)
88	ALFA	NC_000011.10 - 83552508	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
32310108, ss3925132714	NC_000011.9:83263550:A:C	NC_000011.10:83552507:A:C	(self)
ss88659395, ss110759045, ss119921253, ss175209213, ss202963349, ss207793689, ss211163909, ss255309501, ss281089817, ss291085827, ss1598410480	NC_000011.8:82941198:A:G	NC_000011.10:83552507:A:G	(self)
54710152, 30368068, 21512591, 2649710, 13548738, 32310108, 11646649, 14147987, 28730460, 7623860, 60958957, 30368068, 6735034, ss225352412, ss235637561, ss242253905, ss562698174, ss658210014, ss988746832, ss1077886447, ss1342157667, ss1426695604, ss1575830545, ss1627039963, ss1670033996, ss1806906963, ss1932106057, ss1967407082, ss2026795178, ss2155107506, ss2627871138, ss2699404585, ss2902171625, ss3008452595, ss3349697001, ss3675774343, ss3738361784, ss3744385407, ss3749564810, ss3832735002, ss3839925966, ss3876713480, ss3925132714, ss5202989650, ss5400970755, ss5510439591, ss5651661690, ss5836954370, ss5942980911	NC_000011.9:83263550:A:G	NC_000011.10:83552507:A:G	(self)
71832422, 386129015, 652002, 85022040, 108450794, 3980405952, ss2184089929, ss3027195618, ss3649656321, ss3692214823, ss3814898317, ss3845406496, ss4892905138, ss5288197827, ss5483277987, ss5584306487, ss5751184936, ss5812601936, ss5850063272, ss5920854647	NC_000011.10:83552507:A:G	NC_000011.10:83552507:A:G	(self)
ss10695893	NT_033927.5:13462579:A:G	NC_000011.10:83552507:A:G	(self)
ss19904906, ss20798906	NT_033927.6:13462579:A:G	NC_000011.10:83552507:A:G	(self)
ss747379, ss23932805, ss97402412, ss132686704, ss137635342	NT_167190.1:28569345:A:G	NC_000011.10:83552507:A:G	(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 rs575952

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

rs575952