Name: rs11292573
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.

rs11292573

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:40510195-40510205 (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: delTT / delT / dupT / dupTT / dupT…
delTT / delT / dupT / dupTT / dupTTT / dup(T)₆ / ins(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.3434 (2121/6176, ALFA)
delT=0.4954 (1832/3698, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EXO5 : Intron Variant
EXO5-DT : 2KB Upstream Variant
Publications: 0 citations
Genomic View: See rs on genome

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	6176	(T)₁₁=0.4548	delTT=0.0005, delT=0.2009, dupT=0.3434, dupTT=0.0003, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	4778	(T)₁₁=0.2966	delTT=0.0006, delT=0.2595, dupT=0.4429, dupTT=0.0004, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	1250	(T)₁₁=1.0000	delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Other	Sub	70	(T)₁₁=0.91	delTT=0.00, delT=0.01, dupT=0.07, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	46	(T)₁₁=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(T)₁₁=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	8	(T)₁₁=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(T)₁₁=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
1000Genomes	Global	Study-wide	3698	(T)₁₁=0.5046	delT=0.4954
1000Genomes	African	Sub	1264	(T)₁₁=0.7706	delT=0.2294
1000Genomes	East Asian	Sub	714	(T)₁₁=0.322	delT=0.678
1000Genomes	South Asian	Sub	692	(T)₁₁=0.335	delT=0.665
1000Genomes	American	Sub	516	(T)₁₁=0.399	delT=0.601
1000Genomes	Europe	Sub	512	(T)₁₁=0.438	delT=0.562

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 1	NC_000001.11:g.40510204_40510205del
GRCh38.p14 chr 1	NC_000001.11:g.40510205del
GRCh38.p14 chr 1	NC_000001.11:g.40510205dup
GRCh38.p14 chr 1	NC_000001.11:g.40510204_40510205dup
GRCh38.p14 chr 1	NC_000001.11:g.40510203_40510205dup
GRCh38.p14 chr 1	NC_000001.11:g.40510200_40510205dup
GRCh38.p14 chr 1	NC_000001.11:g.40510205_40510206insTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.40975876_40975877del
GRCh37.p13 chr 1	NC_000001.10:g.40975877del
GRCh37.p13 chr 1	NC_000001.10:g.40975877dup
GRCh37.p13 chr 1	NC_000001.10:g.40975876_40975877dup
GRCh37.p13 chr 1	NC_000001.10:g.40975875_40975877dup
GRCh37.p13 chr 1	NC_000001.10:g.40975872_40975877dup
GRCh37.p13 chr 1	NC_000001.10:g.40975877_40975878insTTTTTTTTTTTT

Gene: EXO5, exonuclease 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EXO5 transcript variant 1	NM_001346946.2:c.-31+414_… NM_001346946.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 3	NM_001346947.2:c.-31+414_… NM_001346947.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 4	NM_001346948.2:c.-31+1327… NM_001346948.2:c.-31+1327_-31+1328del	N/A	Intron Variant
EXO5 transcript variant 5	NM_001346949.2:c.-31+414_… NM_001346949.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 6	NM_001346950.2:c.-31+414_… NM_001346950.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 7	NM_001346951.2:c.-31+414_… NM_001346951.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 8	NM_001346952.2:c.-31+414_… NM_001346952.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 9	NM_001346953.2:c.-31+414_… NM_001346953.2:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant 10	NM_001346954.2:c.-31+1296… NM_001346954.2:c.-31+1296_-31+1297del	N/A	Intron Variant
EXO5 transcript variant 11	NM_001346955.2:c.-31+579_… NM_001346955.2:c.-31+579_-31+580del	N/A	Intron Variant
EXO5 transcript variant 12	NM_001346956.2:c.-31+1315… NM_001346956.2:c.-31+1315_-31+1316del	N/A	Intron Variant
EXO5 transcript variant 2	NM_022774.3:c.-31+414_-31… NM_022774.3:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant X1	XM_017002099.3:c.-31+414_… XM_017002099.3:c.-31+414_-31+415del	N/A	Intron Variant
EXO5 transcript variant X2	XM_017002102.3:c.-31+414_… XM_017002102.3:c.-31+414_-31+415del	N/A	Intron Variant

Gene: EXO5-DT, uncharacterized EXO5-DT (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
EXO5-DT transcript	XR_947234.3:n.	N/A	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	(T)₁₁=	delTT	delT	dupT	dupTT	dupTTT	dup(T)₆	ins(T)₁₂
GRCh38.p14 chr 1	NC_000001.11:g.40510195_40510205=	NC_000001.11:g.40510204_40510205del	NC_000001.11:g.40510205del	NC_000001.11:g.40510205dup	NC_000001.11:g.40510204_40510205dup	NC_000001.11:g.40510203_40510205dup	NC_000001.11:g.40510200_40510205dup	NC_000001.11:g.40510205_40510206insTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.40975867_40975877=	NC_000001.10:g.40975876_40975877del	NC_000001.10:g.40975877del	NC_000001.10:g.40975877dup	NC_000001.10:g.40975876_40975877dup	NC_000001.10:g.40975875_40975877dup	NC_000001.10:g.40975872_40975877dup	NC_000001.10:g.40975877_40975878insTTTTTTTTTTTT
EXO5 transcript variant 1	NM_001346946.2:c.-31+405=	NM_001346946.2:c.-31+414_-31+415del	NM_001346946.2:c.-31+415del	NM_001346946.2:c.-31+415dup	NM_001346946.2:c.-31+414_-31+415dup	NM_001346946.2:c.-31+413_-31+415dup	NM_001346946.2:c.-31+410_-31+415dup	NM_001346946.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 3	NM_001346947.2:c.-31+405=	NM_001346947.2:c.-31+414_-31+415del	NM_001346947.2:c.-31+415del	NM_001346947.2:c.-31+415dup	NM_001346947.2:c.-31+414_-31+415dup	NM_001346947.2:c.-31+413_-31+415dup	NM_001346947.2:c.-31+410_-31+415dup	NM_001346947.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 4	NM_001346948.2:c.-31+1318=	NM_001346948.2:c.-31+1327_-31+1328del	NM_001346948.2:c.-31+1328del	NM_001346948.2:c.-31+1328dup	NM_001346948.2:c.-31+1327_-31+1328dup	NM_001346948.2:c.-31+1326_-31+1328dup	NM_001346948.2:c.-31+1323_-31+1328dup	NM_001346948.2:c.-31+1328_-31+1329insTTTTTTTTTTTT
EXO5 transcript variant 5	NM_001346949.2:c.-31+405=	NM_001346949.2:c.-31+414_-31+415del	NM_001346949.2:c.-31+415del	NM_001346949.2:c.-31+415dup	NM_001346949.2:c.-31+414_-31+415dup	NM_001346949.2:c.-31+413_-31+415dup	NM_001346949.2:c.-31+410_-31+415dup	NM_001346949.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 6	NM_001346950.2:c.-31+405=	NM_001346950.2:c.-31+414_-31+415del	NM_001346950.2:c.-31+415del	NM_001346950.2:c.-31+415dup	NM_001346950.2:c.-31+414_-31+415dup	NM_001346950.2:c.-31+413_-31+415dup	NM_001346950.2:c.-31+410_-31+415dup	NM_001346950.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 7	NM_001346951.2:c.-31+405=	NM_001346951.2:c.-31+414_-31+415del	NM_001346951.2:c.-31+415del	NM_001346951.2:c.-31+415dup	NM_001346951.2:c.-31+414_-31+415dup	NM_001346951.2:c.-31+413_-31+415dup	NM_001346951.2:c.-31+410_-31+415dup	NM_001346951.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 8	NM_001346952.2:c.-31+405=	NM_001346952.2:c.-31+414_-31+415del	NM_001346952.2:c.-31+415del	NM_001346952.2:c.-31+415dup	NM_001346952.2:c.-31+414_-31+415dup	NM_001346952.2:c.-31+413_-31+415dup	NM_001346952.2:c.-31+410_-31+415dup	NM_001346952.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 9	NM_001346953.2:c.-31+405=	NM_001346953.2:c.-31+414_-31+415del	NM_001346953.2:c.-31+415del	NM_001346953.2:c.-31+415dup	NM_001346953.2:c.-31+414_-31+415dup	NM_001346953.2:c.-31+413_-31+415dup	NM_001346953.2:c.-31+410_-31+415dup	NM_001346953.2:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 10	NM_001346954.2:c.-31+1287=	NM_001346954.2:c.-31+1296_-31+1297del	NM_001346954.2:c.-31+1297del	NM_001346954.2:c.-31+1297dup	NM_001346954.2:c.-31+1296_-31+1297dup	NM_001346954.2:c.-31+1295_-31+1297dup	NM_001346954.2:c.-31+1292_-31+1297dup	NM_001346954.2:c.-31+1297_-31+1298insTTTTTTTTTTTT
EXO5 transcript variant 11	NM_001346955.2:c.-31+570=	NM_001346955.2:c.-31+579_-31+580del	NM_001346955.2:c.-31+580del	NM_001346955.2:c.-31+580dup	NM_001346955.2:c.-31+579_-31+580dup	NM_001346955.2:c.-31+578_-31+580dup	NM_001346955.2:c.-31+575_-31+580dup	NM_001346955.2:c.-31+580_-31+581insTTTTTTTTTTTT
EXO5 transcript variant 12	NM_001346956.2:c.-31+1306=	NM_001346956.2:c.-31+1315_-31+1316del	NM_001346956.2:c.-31+1316del	NM_001346956.2:c.-31+1316dup	NM_001346956.2:c.-31+1315_-31+1316dup	NM_001346956.2:c.-31+1314_-31+1316dup	NM_001346956.2:c.-31+1311_-31+1316dup	NM_001346956.2:c.-31+1316_-31+1317insTTTTTTTTTTTT
EXO5 transcript	NM_022774.1:c.-31+405=	NM_022774.1:c.-31+414_-31+415del	NM_022774.1:c.-31+415del	NM_022774.1:c.-31+415dup	NM_022774.1:c.-31+414_-31+415dup	NM_022774.1:c.-31+413_-31+415dup	NM_022774.1:c.-31+410_-31+415dup	NM_022774.1:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant 2	NM_022774.3:c.-31+405=	NM_022774.3:c.-31+414_-31+415del	NM_022774.3:c.-31+415del	NM_022774.3:c.-31+415dup	NM_022774.3:c.-31+414_-31+415dup	NM_022774.3:c.-31+413_-31+415dup	NM_022774.3:c.-31+410_-31+415dup	NM_022774.3:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant X1	XM_005271125.1:c.-31+405=	XM_005271125.1:c.-31+414_-31+415del	XM_005271125.1:c.-31+415del	XM_005271125.1:c.-31+415dup	XM_005271125.1:c.-31+414_-31+415dup	XM_005271125.1:c.-31+413_-31+415dup	XM_005271125.1:c.-31+410_-31+415dup	XM_005271125.1:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant X2	XM_005271126.1:c.-31+405=	XM_005271126.1:c.-31+414_-31+415del	XM_005271126.1:c.-31+415del	XM_005271126.1:c.-31+415dup	XM_005271126.1:c.-31+414_-31+415dup	XM_005271126.1:c.-31+413_-31+415dup	XM_005271126.1:c.-31+410_-31+415dup	XM_005271126.1:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant X3	XM_005271127.1:c.-31+570=	XM_005271127.1:c.-31+579_-31+580del	XM_005271127.1:c.-31+580del	XM_005271127.1:c.-31+580dup	XM_005271127.1:c.-31+579_-31+580dup	XM_005271127.1:c.-31+578_-31+580dup	XM_005271127.1:c.-31+575_-31+580dup	XM_005271127.1:c.-31+580_-31+581insTTTTTTTTTTTT
EXO5 transcript variant X4	XM_005271128.1:c.-31+1287=	XM_005271128.1:c.-31+1296_-31+1297del	XM_005271128.1:c.-31+1297del	XM_005271128.1:c.-31+1297dup	XM_005271128.1:c.-31+1296_-31+1297dup	XM_005271128.1:c.-31+1295_-31+1297dup	XM_005271128.1:c.-31+1292_-31+1297dup	XM_005271128.1:c.-31+1297_-31+1298insTTTTTTTTTTTT
EXO5 transcript variant X5	XM_005271129.1:c.-31+1318=	XM_005271129.1:c.-31+1327_-31+1328del	XM_005271129.1:c.-31+1328del	XM_005271129.1:c.-31+1328dup	XM_005271129.1:c.-31+1327_-31+1328dup	XM_005271129.1:c.-31+1326_-31+1328dup	XM_005271129.1:c.-31+1323_-31+1328dup	XM_005271129.1:c.-31+1328_-31+1329insTTTTTTTTTTTT
EXO5 transcript variant X1	XM_017002099.3:c.-31+405=	XM_017002099.3:c.-31+414_-31+415del	XM_017002099.3:c.-31+415del	XM_017002099.3:c.-31+415dup	XM_017002099.3:c.-31+414_-31+415dup	XM_017002099.3:c.-31+413_-31+415dup	XM_017002099.3:c.-31+410_-31+415dup	XM_017002099.3:c.-31+415_-31+416insTTTTTTTTTTTT
EXO5 transcript variant X2	XM_017002102.3:c.-31+405=	XM_017002102.3:c.-31+414_-31+415del	XM_017002102.3:c.-31+415del	XM_017002102.3:c.-31+415dup	XM_017002102.3:c.-31+414_-31+415dup	XM_017002102.3:c.-31+413_-31+415dup	XM_017002102.3:c.-31+410_-31+415dup	XM_017002102.3:c.-31+415_-31+416insTTTTTTTTTTTT

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#.

63 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41260862	Mar 13, 2006 (126)
2	HGSV	ss82191102	Sep 08, 2015 (146)
3	HUMANGENOME_JCVI	ss95227166	Oct 11, 2018 (152)
4	BCMHGSC_JDW	ss103480881	Dec 06, 2013 (138)
5	BUSHMAN	ss193098353	Jul 04, 2010 (132)
6	GMI	ss287671170	Oct 11, 2018 (152)
7	GMI	ss287971525	May 04, 2012 (137)
8	GMI	ss287971529	May 04, 2012 (138)
9	PJP	ss294575352	May 09, 2011 (138)
10	PJP	ss294575353	May 09, 2011 (138)
11	PJP	ss294575354	May 09, 2011 (134)
12	SSMP	ss663186058	Apr 01, 2015 (144)
13	BILGI_BIOE	ss666089148	Apr 25, 2013 (138)
14	1000GENOMES	ss1367691919	Aug 21, 2014 (142)
15	1000GENOMES	ss1367691920	Aug 21, 2014 (142)
16	DDI	ss1536224612	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1700530376	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1700530379	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1709920326	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1709921801	Apr 01, 2015 (144)
21	SWEGEN	ss2986660347	Nov 17, 2017 (151)
22	MCHAISSO	ss3065297623	Nov 08, 2017 (151)
23	BIOINF_KMB_FNS_UNIBA	ss3645037964	Oct 11, 2018 (152)
24	BIOINF_KMB_FNS_UNIBA	ss3645037965	Oct 11, 2018 (152)
25	URBANLAB	ss3646645557	Oct 11, 2018 (152)
26	EVA_DECODE	ss3686583948	Jul 12, 2019 (153)
27	EVA_DECODE	ss3686583949	Jul 12, 2019 (153)
28	EVA_DECODE	ss3686583950	Jul 12, 2019 (153)
29	EVA_DECODE	ss3686583951	Jul 12, 2019 (153)
30	EVA_DECODE	ss3686583952	Jul 12, 2019 (153)
31	EVA_DECODE	ss3686583953	Jul 12, 2019 (153)
32	PACBIO	ss3783385301	Jul 12, 2019 (153)
33	PACBIO	ss3789048472	Jul 12, 2019 (153)
34	PACBIO	ss3793921136	Jul 12, 2019 (153)
35	PACBIO	ss3793921137	Jul 12, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3799099335	Jul 12, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3799099336	Jul 12, 2019 (153)
38	EVA	ss3826126748	Apr 25, 2020 (154)
39	EVA	ss3836450821	Apr 25, 2020 (154)
40	EVA	ss3841856343	Apr 25, 2020 (154)
41	KOGIC	ss3944303919	Apr 25, 2020 (154)
42	KOGIC	ss3944303920	Apr 25, 2020 (154)
43	GNOMAD	ss3991944993	Apr 25, 2021 (155)
44	GNOMAD	ss3991944994	Apr 25, 2021 (155)
45	GNOMAD	ss3991944995	Apr 25, 2021 (155)
46	GNOMAD	ss3991944997	Apr 25, 2021 (155)
47	GNOMAD	ss3991944998	Apr 25, 2021 (155)
48	TOMMO_GENOMICS	ss5143497861	Apr 25, 2021 (155)
49	TOMMO_GENOMICS	ss5143497862	Apr 25, 2021 (155)
50	TOMMO_GENOMICS	ss5143497863	Apr 25, 2021 (155)
51	TOMMO_GENOMICS	ss5143497864	Apr 25, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5241933569	Oct 13, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5241933570	Oct 13, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5241933571	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5443034817	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5443034818	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5668126211	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5668126212	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5668126213	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5668126214	Oct 13, 2022 (156)
61	EVA	ss5831831063	Oct 13, 2022 (156)
62	EVA	ss5831831064	Oct 13, 2022 (156)
63	EVA	ss5907872905	Oct 13, 2022 (156)
64	1000Genomes	NC_000001.10 - 40975867	Oct 11, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 655988 (NC_000001.10:40975866::T 2089/3854) Row 655989 (NC_000001.10:40975866:T: 1055/3854)	-	Oct 11, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 655988 (NC_000001.10:40975866::T 2089/3854) Row 655989 (NC_000001.10:40975866:T: 1055/3854)	-	Oct 11, 2018 (152)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 8543936 (NC_000001.11:40510194::T 50580/138320) Row 8543937 (NC_000001.11:40510194::TT 76/138404) Row 8543938 (NC_000001.11:40510194::TTT 33/138426)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 8543936 (NC_000001.11:40510194::T 50580/138320) Row 8543937 (NC_000001.11:40510194::TT 76/138404) Row 8543938 (NC_000001.11:40510194::TTT 33/138426)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 8543936 (NC_000001.11:40510194::T 50580/138320) Row 8543937 (NC_000001.11:40510194::TT 76/138404) Row 8543938 (NC_000001.11:40510194::TTT 33/138426)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 8543936 (NC_000001.11:40510194::T 50580/138320) Row 8543937 (NC_000001.11:40510194::TT 76/138404) Row 8543938 (NC_000001.11:40510194::TTT 33/138426)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 8543936 (NC_000001.11:40510194::T 50580/138320) Row 8543937 (NC_000001.11:40510194::TT 76/138404) Row 8543938 (NC_000001.11:40510194::TTT 33/138426)...	-	Apr 25, 2021 (155)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 681920 (NC_000001.11:40510195::T 542/1832) Row 681921 (NC_000001.11:40510194:T: 845/1832)	-	Apr 25, 2020 (154)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 681920 (NC_000001.11:40510195::T 542/1832) Row 681921 (NC_000001.11:40510194:T: 845/1832)	-	Apr 25, 2020 (154)
74	8.3KJPN Submission ignored due to conflicting rows: Row 1467168 (NC_000001.10:40975866::T 4712/16760) Row 1467169 (NC_000001.10:40975866:T: 8790/16760) Row 1467170 (NC_000001.10:40975866:TT: 2/16760)...	-	Apr 25, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 1467168 (NC_000001.10:40975866::T 4712/16760) Row 1467169 (NC_000001.10:40975866:T: 8790/16760) Row 1467170 (NC_000001.10:40975866:TT: 2/16760)...	-	Apr 25, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 1467168 (NC_000001.10:40975866::T 4712/16760) Row 1467169 (NC_000001.10:40975866:T: 8790/16760) Row 1467170 (NC_000001.10:40975866:TT: 2/16760)...	-	Apr 25, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 1467168 (NC_000001.10:40975866::T 4712/16760) Row 1467169 (NC_000001.10:40975866:T: 8790/16760) Row 1467170 (NC_000001.10:40975866:TT: 2/16760)...	-	Apr 25, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 1963315 (NC_000001.11:40510194:T: 14906/28258) Row 1963316 (NC_000001.11:40510194::T 7849/28258) Row 1963317 (NC_000001.11:40510194:TT: 11/28258)...	-	Oct 13, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 1963315 (NC_000001.11:40510194:T: 14906/28258) Row 1963316 (NC_000001.11:40510194::T 7849/28258) Row 1963317 (NC_000001.11:40510194:TT: 11/28258)...	-	Oct 13, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 1963315 (NC_000001.11:40510194:T: 14906/28258) Row 1963316 (NC_000001.11:40510194::T 7849/28258) Row 1963317 (NC_000001.11:40510194:TT: 11/28258)...	-	Oct 13, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 1963315 (NC_000001.11:40510194:T: 14906/28258) Row 1963316 (NC_000001.11:40510194::T 7849/28258) Row 1963317 (NC_000001.11:40510194:TT: 11/28258)...	-	Oct 13, 2022 (156)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 655988 (NC_000001.10:40975866::T 1969/3708) Row 655989 (NC_000001.10:40975866:T: 1055/3708)	-	Oct 11, 2018 (152)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 655988 (NC_000001.10:40975866::T 1969/3708) Row 655989 (NC_000001.10:40975866:T: 1055/3708)	-	Oct 11, 2018 (152)
84	ALFA	NC_000001.11 - 40510195	Apr 25, 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)
rs796067878	Nov 08, 2017 (151)
rs57871025	May 24, 2008 (130)
rs200222803	May 11, 2012 (137)
rs372672921	May 13, 2013 (138)
rs67034964	May 15, 2013 (138)
rs67034965	Feb 26, 2009 (130)
rs67211779	May 11, 2012 (137)
rs67211780	Feb 26, 2009 (130)
rs67211781	Feb 26, 2009 (130)
rs67211782	Feb 26, 2009 (130)
rs71060389	May 11, 2012 (137)
rs80154308	May 11, 2012 (137)
rs144118378	May 11, 2012 (137)
rs146511384	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2986660347, ss5143497863	NC_000001.10:40975866:TT:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTT	(self)
ss3686583948, ss3991944998, ss5241933571, ss5668126213	NC_000001.11:40510194:TT:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTT	(self)
8033508945	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTT	(self)
ss103480881	NT_032977.9:10947793:TT:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTT	(self)
ss82191102	NC_000001.8:40644969:T:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
ss287971525	NC_000001.9:40748453:T:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
ss294575354	NC_000001.9:40748463:T:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
1212654, ss663186058, ss666089148, ss1367691919, ss1700530376, ss1700530379, ss3783385301, ss3789048472, ss3793921136, ss5143497862, ss5831831064	NC_000001.10:40975866:T:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
ss3065297623, ss3645037965, ss3799099336, ss3944303920, ss3991944997, ss5241933570, ss5443034817, ss5668126211, ss5907872905	NC_000001.11:40510194:T:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
8033508945	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
ss3686583949	NC_000001.11:40510195:T:	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTT	(self)
ss294575352	NC_000001.9:40748458::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss294575353	NC_000001.9:40748460::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss287971529	NC_000001.9:40748464::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1536224612, ss3793921137, ss3826126748, ss5143497861, ss5831831063	NC_000001.10:40975866::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1367691920, ss1709920326, ss1709921801, ss3836450821	NC_000001.10:40975867::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3645037964, ss3646645557, ss3991944993, ss5241933569, ss5443034818, ss5668126212	NC_000001.11:40510194::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
8033508945	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3799099335, ss3841856343, ss3944303919	NC_000001.11:40510195::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3686583950	NC_000001.11:40510196::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss41260862	NT_032977.9:10947784::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss95227166, ss287671170	NT_032977.9:10947795::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss193098353	NT_032977.10:39924206::T	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5143497864	NC_000001.10:40975866::TT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3991944994, ss5668126214	NC_000001.11:40510194::TT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTT	(self)
8033508945	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3686583951	NC_000001.11:40510196::TT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3991944995	NC_000001.11:40510194::TTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
8033508945	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3686583952	NC_000001.11:40510196::TTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3686583953	NC_000001.11:40510196::TTTTTTTTTTTT	NC_000001.11:40510194:TTTTTTTTTTT:… NC_000001.11:40510194:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(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 rs11292573

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11292573