Name: rs12283611
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.

rs12283611

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:83776234 (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: C>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.439261 (116268/264690, TOPMED)
A=0.447081 (62561/139932, GnomAD)
A=0.42878 (23005/53652, ALFA) (+ 15 more)
A=0.21983 (6212/28258, 14KJPN)
A=0.22133 (3709/16758, 8.3KJPN)
A=0.4202 (2691/6404, 1000G_30x)
A=0.4153 (2080/5008, 1000G)
A=0.4342 (1945/4480, Estonian)
A=0.4102 (1581/3854, ALSPAC)
A=0.4099 (1520/3708, TWINSUK)
A=0.2560 (750/2930, KOREAN)
A=0.390 (389/998, GoNL)
A=0.367 (220/600, NorthernSweden)
C=0.359 (122/340, SGDP_PRJ)
C=0.463 (100/216, Qatari)
A=0.245 (52/212, Vietnamese)
A=0.38 (15/40, GENOME_DK)
C=0.43 (12/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DLG2 : 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	53652	C=0.57122	A=0.42878
European	Sub	44220	C=0.57714	A=0.42286
African	Sub	3168	C=0.4921	A=0.5079
African Others	Sub	124	C=0.435	A=0.565
African American	Sub	3044	C=0.4944	A=0.5056
Asian	Sub	128	C=0.711	A=0.289
East Asian	Sub	100	C=0.70	A=0.30
Other Asian	Sub	28	C=0.75	A=0.25
Latin American 1	Sub	168	C=0.524	A=0.476
Latin American 2	Sub	700	C=0.647	A=0.353
South Asian	Sub	114	C=0.570	A=0.430
Other	Sub	5154	C=0.5568	A=0.4432

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	C=0.560739	A=0.439261
gnomAD - Genomes	Global	Study-wide	139932	C=0.552919	A=0.447081
gnomAD - Genomes	European	Sub	75806	C=0.57433	A=0.42567
gnomAD - Genomes	African	Sub	41898	C=0.48609	A=0.51391
gnomAD - Genomes	American	Sub	13638	C=0.60911	A=0.39089
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.5057	A=0.4943
gnomAD - Genomes	East Asian	Sub	3122	C=0.7508	A=0.2492
gnomAD - Genomes	Other	Sub	2146	C=0.5294	A=0.4706
Allele Frequency Aggregator	Total	Global	53652	C=0.57122	A=0.42878
Allele Frequency Aggregator	European	Sub	44220	C=0.57714	A=0.42286
Allele Frequency Aggregator	Other	Sub	5154	C=0.5568	A=0.4432
Allele Frequency Aggregator	African	Sub	3168	C=0.4921	A=0.5079
Allele Frequency Aggregator	Latin American 2	Sub	700	C=0.647	A=0.353
Allele Frequency Aggregator	Latin American 1	Sub	168	C=0.524	A=0.476
Allele Frequency Aggregator	Asian	Sub	128	C=0.711	A=0.289
Allele Frequency Aggregator	South Asian	Sub	114	C=0.570	A=0.430
14KJPN	JAPANESE	Study-wide	28258	C=0.78017	A=0.21983
8.3KJPN	JAPANESE	Study-wide	16758	C=0.77867	A=0.22133
1000Genomes_30x	Global	Study-wide	6404	C=0.5798	A=0.4202
1000Genomes_30x	African	Sub	1786	C=0.4440	A=0.5560
1000Genomes_30x	Europe	Sub	1266	C=0.5782	A=0.4218
1000Genomes_30x	South Asian	Sub	1202	C=0.5840	A=0.4160
1000Genomes_30x	East Asian	Sub	1170	C=0.7231	A=0.2769
1000Genomes_30x	American	Sub	980	C=0.653	A=0.347
1000Genomes	Global	Study-wide	5008	C=0.5847	A=0.4153
1000Genomes	African	Sub	1322	C=0.4493	A=0.5507
1000Genomes	East Asian	Sub	1008	C=0.7212	A=0.2788
1000Genomes	Europe	Sub	1006	C=0.5716	A=0.4284
1000Genomes	South Asian	Sub	978	C=0.592	A=0.408
1000Genomes	American	Sub	694	C=0.653	A=0.347
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5658	A=0.4342
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5898	A=0.4102
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5901	A=0.4099
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7440	A=0.2560
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.610	A=0.390
Northern Sweden	ACPOP	Study-wide	600	C=0.633	A=0.367
SGDP_PRJ	Global	Study-wide	340	C=0.359	A=0.641
Qatari	Global	Study-wide	216	C=0.463	A=0.537
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.755	A=0.245
The Danish reference pan genome	Danish	Study-wide	40	C=0.62	A=0.38
Siberian	Global	Study-wide	28	C=0.43	A=0.57

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.83776234C>A
GRCh37.p13 chr 11	NC_000011.9:g.83487277C>A
DLG2 RefSeqGene	NG_021375.2:g.1857302G>T

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.1825+104… NM_001142699.3:c.1825+10456G>T	N/A	Intron Variant
DLG2 transcript variant 3	NM_001142700.2:c.1201+104… NM_001142700.2:c.1201+10456G>T	N/A	Intron Variant
DLG2 transcript variant 5	NM_001206769.2:c.1627+104… NM_001206769.2:c.1627+10456G>T	N/A	Intron Variant
DLG2 transcript variant 6	NM_001300983.1:c.1510+104… NM_001300983.1:c.1510+10456G>T	N/A	Intron Variant
DLG2 transcript variant 7	NM_001351274.2:c.1861+104… NM_001351274.2:c.1861+10456G>T	N/A	Intron Variant
DLG2 transcript variant 8	NM_001351275.2:c.1858+104… NM_001351275.2:c.1858+10456G>T	N/A	Intron Variant
DLG2 transcript variant 9	NM_001351276.2:c.1567+104… NM_001351276.2:c.1567+10456G>T	N/A	Intron Variant
DLG2 transcript variant 2	NM_001364.3:c.1510+10456G… NM_001364.3:c.1510+10456G>T	N/A	Intron Variant
DLG2 transcript variant 10	NM_001377966.1:c.1627+104… NM_001377966.1:c.1627+10456G>T	N/A	Intron Variant
DLG2 transcript variant 11	NM_001377967.1:c.1627+104… NM_001377967.1:c.1627+10456G>T	N/A	Intron Variant
DLG2 transcript variant 12	NM_001377968.1:c.1510+104… NM_001377968.1:c.1510+10456G>T	N/A	Intron Variant
DLG2 transcript variant 13	NM_001377970.1:c.1471+104… NM_001377970.1:c.1471+10456G>T	N/A	Intron Variant
DLG2 transcript variant 14	NM_001377971.1:c.1471+104… NM_001377971.1:c.1471+10456G>T	N/A	Intron Variant
DLG2 transcript variant 15	NM_001377972.1:c.1411+104… NM_001377972.1:c.1411+10456G>T	N/A	Intron Variant
DLG2 transcript variant 16	NM_001377973.1:c.1384+104… NM_001377973.1:c.1384+10456G>T	N/A	Intron Variant
DLG2 transcript variant 17	NM_001377974.1:c.1255+104… NM_001377974.1:c.1255+10456G>T	N/A	Intron Variant
DLG2 transcript variant 18	NM_001377975.1:c.1411+104… NM_001377975.1:c.1411+10456G>T	N/A	Intron Variant
DLG2 transcript variant 4	NM_001142702.2:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 19	NM_001377976.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 20	NM_001377977.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 21	NM_001377978.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 22	NM_001377979.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 23	NM_001377980.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 24	NM_001377981.1:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant 25	NM_001377982.1:c.	N/A	Genic Upstream 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.1411+104… XM_005273810.5:c.1411+10456G>T	N/A	Intron Variant
DLG2 transcript variant X15	XM_011544782.3:c.1573+104… XM_011544782.3:c.1573+10456G>T	N/A	Intron Variant
DLG2 transcript variant X2	XM_017017255.3:c.1936+104… XM_017017255.3:c.1936+10456G>T	N/A	Intron Variant
DLG2 transcript variant X3	XM_017017256.3:c.1936+104… XM_017017256.3:c.1936+10456G>T	N/A	Intron Variant
DLG2 transcript variant X5	XM_017017257.3:c.1933+104… XM_017017257.3:c.1933+10456G>T	N/A	Intron Variant
DLG2 transcript variant X8	XM_017017258.2:c.1813+104… XM_017017258.2:c.1813+10456G>T	N/A	Intron Variant
DLG2 transcript variant X11	XM_017017262.2:c.1627+104… XM_017017262.2:c.1627+10456G>T	N/A	Intron Variant
DLG2 transcript variant X12	XM_017017263.2:c.1573+104… XM_017017263.2:c.1573+10456G>T	N/A	Intron Variant
DLG2 transcript variant X13	XM_017017264.3:c.1570+104… XM_017017264.3:c.1570+10456G>T	N/A	Intron Variant
DLG2 transcript variant X14	XM_017017265.3:c.1567+104… XM_017017265.3:c.1567+10456G>T	N/A	Intron Variant
DLG2 transcript variant X17	XM_017017267.2:c.1510+104… XM_017017267.2:c.1510+10456G>T	N/A	Intron Variant
DLG2 transcript variant X18	XM_017017268.2:c.1507+104… XM_017017268.2:c.1507+10456G>T	N/A	Intron Variant
DLG2 transcript variant X19	XM_017017269.2:c.1498+104… XM_017017269.2:c.1498+10456G>T	N/A	Intron Variant
DLG2 transcript variant X20	XM_017017270.2:c.1573+104… XM_017017270.2:c.1573+10456G>T	N/A	Intron Variant
DLG2 transcript variant X21	XM_017017271.3:c.1570+104… XM_017017271.3:c.1570+10456G>T	N/A	Intron Variant
DLG2 transcript variant X22	XM_017017273.3:c.1471+104… XM_017017273.3:c.1471+10456G>T	N/A	Intron Variant
DLG2 transcript variant X23	XM_017017276.2:c.1498+104… XM_017017276.2:c.1498+10456G>T	N/A	Intron Variant
DLG2 transcript variant X24	XM_017017277.2:c.1384+104… XM_017017277.2:c.1384+10456G>T	N/A	Intron Variant
DLG2 transcript variant X28	XM_017017279.2:c.1417+104… XM_017017279.2:c.1417+10456G>T	N/A	Intron Variant
DLG2 transcript variant X30	XM_017017280.3:c.1414+104… XM_017017280.3:c.1414+10456G>T	N/A	Intron Variant
DLG2 transcript variant X29	XM_017017281.3:c.1414+104… XM_017017281.3:c.1414+10456G>T	N/A	Intron Variant
DLG2 transcript variant X31	XM_017017284.2:c.1261+104… XM_017017284.2:c.1261+10456G>T	N/A	Intron Variant
DLG2 transcript variant X32	XM_017017285.2:c.1342+104… XM_017017285.2:c.1342+10456G>T	N/A	Intron Variant
DLG2 transcript variant X35	XM_017017287.2:c.112+1045… XM_017017287.2:c.112+10456G>T	N/A	Intron Variant
DLG2 transcript variant X1	XM_047426494.1:c.1975+104… XM_047426494.1:c.1975+10456G>T	N/A	Intron Variant
DLG2 transcript variant X4	XM_047426495.1:c.1975+104… XM_047426495.1:c.1975+10456G>T	N/A	Intron Variant
DLG2 transcript variant X6	XM_047426496.1:c.1975+104… XM_047426496.1:c.1975+10456G>T	N/A	Intron Variant
DLG2 transcript variant X7	XM_047426497.1:c.1861+104… XM_047426497.1:c.1861+10456G>T	N/A	Intron Variant
DLG2 transcript variant X9	XM_047426498.1:c.1819+104… XM_047426498.1:c.1819+10456G>T	N/A	Intron Variant
DLG2 transcript variant X10	XM_047426499.1:c.1705+104… XM_047426499.1:c.1705+10456G>T	N/A	Intron Variant
DLG2 transcript variant X16	XM_047426500.1:c.1570+104… XM_047426500.1:c.1570+10456G>T	N/A	Intron Variant
DLG2 transcript variant X25	XM_047426502.1:c.1414+104… XM_047426502.1:c.1414+10456G>T	N/A	Intron Variant
DLG2 transcript variant X27	XM_047426503.1:c.1384+104… XM_047426503.1:c.1384+10456G>T	N/A	Intron Variant
DLG2 transcript variant X33	XM_047426505.1:c.1228+104… XM_047426505.1:c.1228+10456G>T	N/A	Intron Variant
DLG2 transcript variant X34	XM_047426506.1:c.1570+104… XM_047426506.1:c.1570+10456G>T	N/A	Intron Variant
DLG2 transcript variant X36	XM_017017289.2:c.	N/A	Genic Upstream Transcript Variant
DLG2 transcript variant X37	XM_017017290.2:c.	N/A	Genic Upstream 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	C=	A
GRCh38.p14 chr 11	NC_000011.10:g.83776234=	NC_000011.10:g.83776234C>A
GRCh37.p13 chr 11	NC_000011.9:g.83487277=	NC_000011.9:g.83487277C>A
DLG2 RefSeqGene	NG_021375.2:g.1857302=	NG_021375.2:g.1857302G>T
DLG2 transcript variant 1	NM_001142699.1:c.1825+10456=	NM_001142699.1:c.1825+10456G>T
DLG2 transcript variant 1	NM_001142699.3:c.1825+10456=	NM_001142699.3:c.1825+10456G>T
DLG2 transcript variant 3	NM_001142700.1:c.1201+10456=	NM_001142700.1:c.1201+10456G>T
DLG2 transcript variant 3	NM_001142700.2:c.1201+10456=	NM_001142700.2:c.1201+10456G>T
DLG2 transcript variant 5	NM_001206769.1:c.1627+10456=	NM_001206769.1:c.1627+10456G>T
DLG2 transcript variant 5	NM_001206769.2:c.1627+10456=	NM_001206769.2:c.1627+10456G>T
DLG2 transcript variant 6	NM_001300983.1:c.1510+10456=	NM_001300983.1:c.1510+10456G>T
DLG2 transcript variant 7	NM_001351274.2:c.1861+10456=	NM_001351274.2:c.1861+10456G>T
DLG2 transcript variant 8	NM_001351275.2:c.1858+10456=	NM_001351275.2:c.1858+10456G>T
DLG2 transcript variant 9	NM_001351276.2:c.1567+10456=	NM_001351276.2:c.1567+10456G>T
DLG2 transcript variant 2	NM_001364.3:c.1510+10456=	NM_001364.3:c.1510+10456G>T
DLG2 transcript variant 10	NM_001377966.1:c.1627+10456=	NM_001377966.1:c.1627+10456G>T
DLG2 transcript variant 11	NM_001377967.1:c.1627+10456=	NM_001377967.1:c.1627+10456G>T
DLG2 transcript variant 12	NM_001377968.1:c.1510+10456=	NM_001377968.1:c.1510+10456G>T
DLG2 transcript variant 13	NM_001377970.1:c.1471+10456=	NM_001377970.1:c.1471+10456G>T
DLG2 transcript variant 14	NM_001377971.1:c.1471+10456=	NM_001377971.1:c.1471+10456G>T
DLG2 transcript variant 15	NM_001377972.1:c.1411+10456=	NM_001377972.1:c.1411+10456G>T
DLG2 transcript variant 16	NM_001377973.1:c.1384+10456=	NM_001377973.1:c.1384+10456G>T
DLG2 transcript variant 17	NM_001377974.1:c.1255+10456=	NM_001377974.1:c.1255+10456G>T
DLG2 transcript variant 18	NM_001377975.1:c.1411+10456=	NM_001377975.1:c.1411+10456G>T
DLG2 transcript variant X1	XM_005273805.1:c.1627+10456=	XM_005273805.1:c.1627+10456G>T
DLG2 transcript variant X2	XM_005273806.1:c.1570+10456=	XM_005273806.1:c.1570+10456G>T
DLG2 transcript variant X3	XM_005273807.1:c.1570+10456=	XM_005273807.1:c.1570+10456G>T
DLG2 transcript variant X4	XM_005273808.1:c.1510+10456=	XM_005273808.1:c.1510+10456G>T
DLG2 transcript variant X5	XM_005273809.1:c.1510+10456=	XM_005273809.1:c.1510+10456G>T
DLG2 transcript variant X6	XM_005273810.1:c.1411+10456=	XM_005273810.1:c.1411+10456G>T
DLG2 transcript variant X26	XM_005273810.5:c.1411+10456=	XM_005273810.5:c.1411+10456G>T
DLG2 transcript variant X7	XM_005273811.1:c.1411+10456=	XM_005273811.1:c.1411+10456G>T
DLG2 transcript variant X8	XM_005273812.1:c.1627+10456=	XM_005273812.1:c.1627+10456G>T
DLG2 transcript variant X15	XM_011544782.3:c.1573+10456=	XM_011544782.3:c.1573+10456G>T
DLG2 transcript variant X2	XM_017017255.3:c.1936+10456=	XM_017017255.3:c.1936+10456G>T
DLG2 transcript variant X3	XM_017017256.3:c.1936+10456=	XM_017017256.3:c.1936+10456G>T
DLG2 transcript variant X5	XM_017017257.3:c.1933+10456=	XM_017017257.3:c.1933+10456G>T
DLG2 transcript variant X8	XM_017017258.2:c.1813+10456=	XM_017017258.2:c.1813+10456G>T
DLG2 transcript variant X11	XM_017017262.2:c.1627+10456=	XM_017017262.2:c.1627+10456G>T
DLG2 transcript variant X12	XM_017017263.2:c.1573+10456=	XM_017017263.2:c.1573+10456G>T
DLG2 transcript variant X13	XM_017017264.3:c.1570+10456=	XM_017017264.3:c.1570+10456G>T
DLG2 transcript variant X14	XM_017017265.3:c.1567+10456=	XM_017017265.3:c.1567+10456G>T
DLG2 transcript variant X17	XM_017017267.2:c.1510+10456=	XM_017017267.2:c.1510+10456G>T
DLG2 transcript variant X18	XM_017017268.2:c.1507+10456=	XM_017017268.2:c.1507+10456G>T
DLG2 transcript variant X19	XM_017017269.2:c.1498+10456=	XM_017017269.2:c.1498+10456G>T
DLG2 transcript variant X20	XM_017017270.2:c.1573+10456=	XM_017017270.2:c.1573+10456G>T
DLG2 transcript variant X21	XM_017017271.3:c.1570+10456=	XM_017017271.3:c.1570+10456G>T
DLG2 transcript variant X22	XM_017017273.3:c.1471+10456=	XM_017017273.3:c.1471+10456G>T
DLG2 transcript variant X23	XM_017017276.2:c.1498+10456=	XM_017017276.2:c.1498+10456G>T
DLG2 transcript variant X24	XM_017017277.2:c.1384+10456=	XM_017017277.2:c.1384+10456G>T
DLG2 transcript variant X28	XM_017017279.2:c.1417+10456=	XM_017017279.2:c.1417+10456G>T
DLG2 transcript variant X30	XM_017017280.3:c.1414+10456=	XM_017017280.3:c.1414+10456G>T
DLG2 transcript variant X29	XM_017017281.3:c.1414+10456=	XM_017017281.3:c.1414+10456G>T
DLG2 transcript variant X31	XM_017017284.2:c.1261+10456=	XM_017017284.2:c.1261+10456G>T
DLG2 transcript variant X32	XM_017017285.2:c.1342+10456=	XM_017017285.2:c.1342+10456G>T
DLG2 transcript variant X35	XM_017017287.2:c.112+10456=	XM_017017287.2:c.112+10456G>T
DLG2 transcript variant X1	XM_047426494.1:c.1975+10456=	XM_047426494.1:c.1975+10456G>T
DLG2 transcript variant X4	XM_047426495.1:c.1975+10456=	XM_047426495.1:c.1975+10456G>T
DLG2 transcript variant X6	XM_047426496.1:c.1975+10456=	XM_047426496.1:c.1975+10456G>T
DLG2 transcript variant X7	XM_047426497.1:c.1861+10456=	XM_047426497.1:c.1861+10456G>T
DLG2 transcript variant X9	XM_047426498.1:c.1819+10456=	XM_047426498.1:c.1819+10456G>T
DLG2 transcript variant X10	XM_047426499.1:c.1705+10456=	XM_047426499.1:c.1705+10456G>T
DLG2 transcript variant X16	XM_047426500.1:c.1570+10456=	XM_047426500.1:c.1570+10456G>T
DLG2 transcript variant X25	XM_047426502.1:c.1414+10456=	XM_047426502.1:c.1414+10456G>T
DLG2 transcript variant X27	XM_047426503.1:c.1384+10456=	XM_047426503.1:c.1384+10456G>T
DLG2 transcript variant X33	XM_047426505.1:c.1228+10456=	XM_047426505.1:c.1228+10456G>T
DLG2 transcript variant X34	XM_047426506.1:c.1570+10456=	XM_047426506.1:c.1570+10456G>T

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#.

78 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18705476	Feb 28, 2004 (120)
2	SSAHASNP	ss20748300	Apr 05, 2004 (121)
3	PERLEGEN	ss24358907	Sep 20, 2004 (123)
4	ABI	ss39878918	Mar 15, 2006 (126)
5	HGSV	ss78531458	Dec 06, 2007 (129)
6	HUMANGENOME_JCVI	ss97402541	Feb 05, 2009 (130)
7	BGI	ss106755581	Feb 05, 2009 (130)
8	1000GENOMES	ss110761642	Jan 25, 2009 (130)
9	1000GENOMES	ss114889862	Jan 25, 2009 (130)
10	ILLUMINA-UK	ss119921540	Dec 01, 2009 (131)
11	ENSEMBL	ss137634699	Dec 01, 2009 (131)
12	GMI	ss156547479	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss168636601	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss170457956	Jul 04, 2010 (132)
15	BUSHMAN	ss202965314	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss207738718	Jul 04, 2010 (132)
17	1000GENOMES	ss225353327	Jul 14, 2010 (132)
18	1000GENOMES	ss235638080	Jul 15, 2010 (132)
19	1000GENOMES	ss242254368	Jul 15, 2010 (132)
20	GMI	ss281090321	May 04, 2012 (137)
21	GMI	ss286418359	Apr 25, 2013 (138)
22	PJP	ss291086143	May 09, 2011 (134)
23	ILLUMINA	ss482908265	May 04, 2012 (137)
24	ILLUMINA	ss484277867	May 04, 2012 (137)
25	ILLUMINA	ss536462430	Sep 08, 2015 (146)
26	TISHKOFF	ss562699328	Apr 25, 2013 (138)
27	SSMP	ss658210943	Apr 25, 2013 (138)
28	ILLUMINA	ss780593550	Sep 08, 2015 (146)
29	ILLUMINA	ss782584985	Sep 08, 2015 (146)
30	ILLUMINA	ss836086498	Sep 08, 2015 (146)
31	EVA-GONL	ss988748426	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1077887679	Aug 21, 2014 (142)
33	1000GENOMES	ss1342163869	Aug 21, 2014 (142)
34	DDI	ss1426695998	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1575831192	Apr 01, 2015 (144)
36	EVA_DECODE	ss1598412207	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1627043543	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1670037576	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1806907760	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1932107930	Feb 12, 2016 (147)
41	GENOMED	ss1967407312	Jul 19, 2016 (147)
42	JJLAB	ss2026795920	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2155108244	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2184102945	Dec 20, 2016 (150)
45	ILLUMINA	ss2632859762	Nov 08, 2017 (151)
46	GRF	ss2699405436	Nov 08, 2017 (151)
47	GNOMAD	ss2902189782	Nov 08, 2017 (151)
48	SWEGEN	ss3008455151	Nov 08, 2017 (151)
49	BIOINF_KMB_FNS_UNIBA	ss3027196016	Nov 08, 2017 (151)
50	CSHL	ss3349697576	Nov 08, 2017 (151)
51	ILLUMINA	ss3626705664	Oct 12, 2018 (152)
52	ILLUMINA	ss3630875223	Oct 12, 2018 (152)
53	ILLUMINA	ss3641745667	Oct 12, 2018 (152)
54	URBANLAB	ss3649656734	Oct 12, 2018 (152)
55	EGCUT_WGS	ss3675776820	Jul 13, 2019 (153)
56	EVA_DECODE	ss3692217885	Jul 13, 2019 (153)
57	ACPOP	ss3738363079	Jul 13, 2019 (153)
58	ILLUMINA	ss3744385462	Jul 13, 2019 (153)
59	EVA	ss3749566539	Jul 13, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3814900211	Jul 13, 2019 (153)
61	EVA	ss3832735788	Apr 26, 2020 (154)
62	EVA	ss3839926429	Apr 26, 2020 (154)
63	EVA	ss3845406967	Apr 26, 2020 (154)
64	SGDP_PRJ	ss3876716831	Apr 26, 2020 (154)
65	KRGDB	ss3925136227	Apr 26, 2020 (154)
66	TOPMED	ss4892961079	Apr 27, 2021 (155)
67	TOMMO_GENOMICS	ss5202996744	Apr 27, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5288203358	Oct 17, 2022 (156)
69	EVA	ss5315560663	Oct 17, 2022 (156)
70	HUGCELL_USP	ss5483283105	Oct 17, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5584314769	Oct 17, 2022 (156)
72	SANFORD_IMAGENETICS	ss5651665002	Oct 17, 2022 (156)
73	TOMMO_GENOMICS	ss5751194080	Oct 17, 2022 (156)
74	YY_MCH	ss5812603251	Oct 17, 2022 (156)
75	EVA	ss5836956474	Oct 17, 2022 (156)
76	EVA	ss5850063823	Oct 17, 2022 (156)
77	EVA	ss5920860932	Oct 17, 2022 (156)
78	EVA	ss5942984380	Oct 17, 2022 (156)
79	1000Genomes	NC_000011.9 - 83487277	Oct 12, 2018 (152)
80	1000Genomes_30x	NC_000011.10 - 83776234	Oct 17, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 83487277	Oct 12, 2018 (152)
82	Genetic variation in the Estonian population	NC_000011.9 - 83487277	Oct 12, 2018 (152)
83	The Danish reference pan genome	NC_000011.9 - 83487277	Apr 26, 2020 (154)
84	gnomAD - Genomes	NC_000011.10 - 83776234	Apr 27, 2021 (155)
85	Genome of the Netherlands Release 5	NC_000011.9 - 83487277	Apr 26, 2020 (154)
86	KOREAN population from KRGDB	NC_000011.9 - 83487277	Apr 26, 2020 (154)
87	Northern Sweden	NC_000011.9 - 83487277	Jul 13, 2019 (153)
88	Qatari	NC_000011.9 - 83487277	Apr 26, 2020 (154)
89	SGDP_PRJ	NC_000011.9 - 83487277	Apr 26, 2020 (154)
90	Siberian	NC_000011.9 - 83487277	Apr 26, 2020 (154)
91	8.3KJPN	NC_000011.9 - 83487277	Apr 27, 2021 (155)
92	14KJPN	NC_000011.10 - 83776234	Oct 17, 2022 (156)
93	TopMed	NC_000011.10 - 83776234	Apr 27, 2021 (155)
94	UK 10K study - Twins	NC_000011.9 - 83487277	Oct 12, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000011.9 - 83487277	Jul 13, 2019 (153)
96	ALFA	NC_000011.10 - 83776234	Apr 27, 2021 (155)

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

Associated ID	History Updated (Build)
rs17483009	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78531458, ss110761642, ss114889862, ss119921540, ss168636601, ss170457956, ss202965314, ss207738718, ss281090321, ss286418359, ss291086143, ss482908265, ss1598412207	NC_000011.8:83164924:C:A	NC_000011.10:83776233:C:A	(self)
54716603, 30371994, 21515068, 2650295, 13550288, 32313621, 11647944, 14149860, 28733811, 7624598, 60966051, 30371994, 6735794, ss225353327, ss235638080, ss242254368, ss484277867, ss536462430, ss562699328, ss658210943, ss780593550, ss782584985, ss836086498, ss988748426, ss1077887679, ss1342163869, ss1426695998, ss1575831192, ss1627043543, ss1670037576, ss1806907760, ss1932107930, ss1967407312, ss2026795920, ss2155108244, ss2632859762, ss2699405436, ss2902189782, ss3008455151, ss3349697576, ss3626705664, ss3630875223, ss3641745667, ss3675776820, ss3738363079, ss3744385462, ss3749566539, ss3832735788, ss3839926429, ss3876716831, ss3925136227, ss5202996744, ss5315560663, ss5651665002, ss5836956474, ss5942984380	NC_000011.9:83487276:C:A	NC_000011.10:83776233:C:A	(self)
71840704, 386175823, 85031184, 108506735, 367200317, ss2184102945, ss3027196016, ss3649656734, ss3692217885, ss3814900211, ss3845406967, ss4892961079, ss5288203358, ss5483283105, ss5584314769, ss5751194080, ss5812603251, ss5850063823, ss5920860932	NC_000011.10:83776233:C:A	NC_000011.10:83776233:C:A	(self)
ss18705476, ss20748300	NT_033927.6:13686305:C:A	NC_000011.10:83776233:C:A	(self)
ss24358907, ss39878918, ss97402541, ss106755581, ss137634699, ss156547479	NT_167190.1:28793071:C:A	NC_000011.10:83776233:C:A	(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 rs12283611

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12283611