Name: rs5813282
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.

rs5813282

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:64155821-64155833 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.4603 (2305/5008, 1000G)
delAAA=0.0000 (0/1332, ALFA)
delA=0.0000 (0/1332, ALFA) (+ 4 more)
dupA=0.0000 (0/1332, ALFA)
dupAA=0.0000 (0/1332, ALFA)
dupAAA=0.0000 (0/1332, ALFA)
dup(A)₅=0.0000 (0/1332, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SNX22 : Non Coding Transcript Variant
PPIB : 3 Prime UTR 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	1332	AAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000
European	Sub	264	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000
African	Sub	980	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000
African Others	Sub	50	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00
African American	Sub	930	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000
Asian	Sub	0	AAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0
East Asian	Sub	0	AAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0
Other Asian	Sub	0	AAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0
Latin American 1	Sub	10	AAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0
Latin American 2	Sub	12	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00
South Asian	Sub	14	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00
Other	Sub	52	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00

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
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.4603
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.3177
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.5546
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.5537
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.370
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.586
Allele Frequency Aggregator	Total	Global	1332	(A)₁₃=1.0000	delAAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	980	(A)₁₃=1.000	delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	European	Sub	264	(A)₁₃=1.000	delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	52	(A)₁₃=1.00	delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	14	(A)₁₃=1.00	delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	12	(A)₁₃=1.00	delAAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	10	(A)₁₃=1.0	delAAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₃=0	delAAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₅=0

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 15	NC_000015.10:g.64155831_64155833del
GRCh38.p14 chr 15	NC_000015.10:g.64155832_64155833del
GRCh38.p14 chr 15	NC_000015.10:g.64155833del
GRCh38.p14 chr 15	NC_000015.10:g.64155833dup
GRCh38.p14 chr 15	NC_000015.10:g.64155832_64155833dup
GRCh38.p14 chr 15	NC_000015.10:g.64155831_64155833dup
GRCh38.p14 chr 15	NC_000015.10:g.64155829_64155833dup
GRCh37.p13 chr 15	NC_000015.9:g.64448030_64448032del
GRCh37.p13 chr 15	NC_000015.9:g.64448031_64448032del
GRCh37.p13 chr 15	NC_000015.9:g.64448032del
GRCh37.p13 chr 15	NC_000015.9:g.64448032dup
GRCh37.p13 chr 15	NC_000015.9:g.64448031_64448032dup
GRCh37.p13 chr 15	NC_000015.9:g.64448030_64448032dup
GRCh37.p13 chr 15	NC_000015.9:g.64448028_64448032dup
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12333_12335del
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12334_12335del
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12335del
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12335dup
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12334_12335dup
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12333_12335dup
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12331_12335dup
SNX22 RefSeqGene	NG_033071.1:g.9115_9117del
SNX22 RefSeqGene	NG_033071.1:g.9116_9117del
SNX22 RefSeqGene	NG_033071.1:g.9117del
SNX22 RefSeqGene	NG_033071.1:g.9117dup
SNX22 RefSeqGene	NG_033071.1:g.9116_9117dup
SNX22 RefSeqGene	NG_033071.1:g.9115_9117dup
SNX22 RefSeqGene	NG_033071.1:g.9113_9117dup

Gene: SNX22, sorting nexin 22 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SNX22 transcript variant 1	NM_024798.3:c.1313_1325=	N/A	3 Prime UTR Variant
SNX22 transcript variant 2	NR_073534.2:n.1997_1999del	N/A	Non Coding Transcript Variant
SNX22 transcript variant 2	NR_073534.2:n.1998_1999del	N/A	Non Coding Transcript Variant
SNX22 transcript variant 2	NR_073534.2:n.1999del	N/A	Non Coding Transcript Variant
SNX22 transcript variant 2	NR_073534.2:n.1999dup	N/A	Non Coding Transcript Variant
SNX22 transcript variant 2	NR_073534.2:n.1998_1999dup	N/A	Non Coding Transcript Variant
SNX22 transcript variant 2	NR_073534.2:n.1997_1999dup	N/A	Non Coding Transcript Variant
SNX22 transcript variant 2	NR_073534.2:n.1995_1999dup	N/A	Non Coding Transcript Variant
SNX22 transcript variant X2	XM_017022581.2:c.1313_1… XM_017022581.2:c.1313_1325=	N/A	3 Prime UTR Variant
SNX22 transcript variant X1	XM_005254677.4:c.	N/A	Genic Downstream Transcript Variant

Gene: PPIB, peptidylprolyl isomerase B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PPIB transcript	NM_000942.5:c.190_202=	N/A	3 Prime UTR 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.

Allele: dupA (allele ID: 332647 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000347354.3	Osteogenesis Imperfecta, Recessive	Benign
RCV001618559.3	not provided	Benign

Allele: dupAA (allele ID: 340987 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000395841.3	Osteogenesis Imperfecta, Recessive	Uncertain-Significance

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)₁₃=	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅
GRCh38.p14 chr 15	NC_000015.10:g.64155821_64155833=	NC_000015.10:g.64155831_64155833del	NC_000015.10:g.64155832_64155833del	NC_000015.10:g.64155833del	NC_000015.10:g.64155833dup	NC_000015.10:g.64155832_64155833dup	NC_000015.10:g.64155831_64155833dup	NC_000015.10:g.64155829_64155833dup
GRCh37.p13 chr 15	NC_000015.9:g.64448020_64448032=	NC_000015.9:g.64448030_64448032del	NC_000015.9:g.64448031_64448032del	NC_000015.9:g.64448032del	NC_000015.9:g.64448032dup	NC_000015.9:g.64448031_64448032dup	NC_000015.9:g.64448030_64448032dup	NC_000015.9:g.64448028_64448032dup
PPIB RefSeqGene (LRG_10)	NG_012979.1:g.12323_12335=	NG_012979.1:g.12333_12335del	NG_012979.1:g.12334_12335del	NG_012979.1:g.12335del	NG_012979.1:g.12335dup	NG_012979.1:g.12334_12335dup	NG_012979.1:g.12333_12335dup	NG_012979.1:g.12331_12335dup
PPIB transcript	NM_000942.5:c.190_202=	NM_000942.5:c.200_202del	NM_000942.5:c.201_202del	NM_000942.5:c.*202del	NM_000942.5:c.*202dup	NM_000942.5:c.201_202dup	NM_000942.5:c.200_202dup	NM_000942.5:c.198_202dup
PPIB transcript	NM_000942.4:c.190_202=	NM_000942.4:c.200_202del	NM_000942.4:c.201_202del	NM_000942.4:c.*202del	NM_000942.4:c.*202dup	NM_000942.4:c.201_202dup	NM_000942.4:c.200_202dup	NM_000942.4:c.198_202dup
SNX22 RefSeqGene	NG_033071.1:g.9105_9117=	NG_033071.1:g.9115_9117del	NG_033071.1:g.9116_9117del	NG_033071.1:g.9117del	NG_033071.1:g.9117dup	NG_033071.1:g.9116_9117dup	NG_033071.1:g.9115_9117dup	NG_033071.1:g.9113_9117dup
SNX22 transcript variant 1	NM_024798.3:c.1313_1325=	NM_024798.3:c.1323_1325del	NM_024798.3:c.1324_1325del	NM_024798.3:c.*1325del	NM_024798.3:c.*1325dup	NM_024798.3:c.1324_1325dup	NM_024798.3:c.1323_1325dup	NM_024798.3:c.1321_1325dup
SNX22 transcript variant 1	NM_024798.2:c.1313_1325=	NM_024798.2:c.1323_1325del	NM_024798.2:c.1324_1325del	NM_024798.2:c.*1325del	NM_024798.2:c.*1325dup	NM_024798.2:c.1324_1325dup	NM_024798.2:c.1323_1325dup	NM_024798.2:c.1321_1325dup
SNX22 transcript variant 2	NR_073534.2:n.1987_1999=	NR_073534.2:n.1997_1999del	NR_073534.2:n.1998_1999del	NR_073534.2:n.1999del	NR_073534.2:n.1999dup	NR_073534.2:n.1998_1999dup	NR_073534.2:n.1997_1999dup	NR_073534.2:n.1995_1999dup
SNX22 transcript variant 2	NR_073534.1:n.2001_2013=	NR_073534.1:n.2011_2013del	NR_073534.1:n.2012_2013del	NR_073534.1:n.2013del	NR_073534.1:n.2013dup	NR_073534.1:n.2012_2013dup	NR_073534.1:n.2011_2013dup	NR_073534.1:n.2009_2013dup
SNX22 transcript variant X2	XM_017022581.2:c.1313_1325=	XM_017022581.2:c.1323_1325del	XM_017022581.2:c.1324_1325del	XM_017022581.2:c.*1325del	XM_017022581.2:c.*1325dup	XM_017022581.2:c.1324_1325dup	XM_017022581.2:c.1323_1325dup	XM_017022581.2:c.1321_1325dup
SNX22 transcript variant X2	XM_017022581.1:c.1313_1325=	XM_017022581.1:c.1323_1325del	XM_017022581.1:c.1324_1325del	XM_017022581.1:c.*1325del	XM_017022581.1:c.*1325dup	XM_017022581.1:c.1324_1325dup	XM_017022581.1:c.1323_1325dup	XM_017022581.1:c.1321_1325dup

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#.

57 SubSNP, 21 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40637860	Mar 15, 2006 (138)
2	HGSV	ss82186929	Dec 03, 2013 (138)
3	HUMANGENOME_JCVI	ss95661151	Dec 05, 2013 (138)
4	BUSHMAN	ss193387734	Jul 04, 2010 (138)
5	BL	ss256170816	May 09, 2011 (138)
6	GMI	ss289262887	May 04, 2012 (137)
7	PJP	ss294864267	May 09, 2011 (137)
8	BILGI_BIOE	ss666651889	Apr 25, 2013 (138)
9	1000GENOMES	ss1374998575	Aug 21, 2014 (142)
10	EVA_UK10K_ALSPAC	ss1708328725	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1708328726	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1708328790	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1708328791	Apr 01, 2015 (144)
14	CLINVAR	ss2137084620	Dec 21, 2016 (149)
15	CLINVAR	ss2137084621	Dec 21, 2016 (149)
16	SWEGEN	ss3013432559	Nov 08, 2017 (151)
17	SWEGEN	ss3013432560	Nov 08, 2017 (151)
18	SWEGEN	ss3013432561	Nov 08, 2017 (151)
19	BEROUKHIMLAB	ss3644389407	Oct 12, 2018 (152)
20	BIOINF_KMB_FNS_UNIBA	ss3645387880	Oct 12, 2018 (152)
21	EVA_DECODE	ss3698075477	Jul 13, 2019 (153)
22	EVA_DECODE	ss3698075478	Jul 13, 2019 (153)
23	EVA_DECODE	ss3698075479	Jul 13, 2019 (153)
24	EVA_DECODE	ss3698075480	Jul 13, 2019 (153)
25	EVA_DECODE	ss3698075482	Jul 13, 2019 (153)
26	ACPOP	ss3741005124	Jul 13, 2019 (153)
27	ACPOP	ss3741005125	Jul 13, 2019 (153)
28	PACBIO	ss3787874306	Jul 13, 2019 (153)
29	PACBIO	ss3792882401	Jul 13, 2019 (153)
30	PACBIO	ss3797766980	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3818518286	Jul 13, 2019 (153)
32	EVA	ss3834283055	Apr 27, 2020 (154)
33	EVA	ss3846229718	Apr 27, 2020 (154)
34	GNOMAD	ss4290396804	Apr 27, 2021 (155)
35	GNOMAD	ss4290396805	Apr 27, 2021 (155)
36	GNOMAD	ss4290396806	Apr 27, 2021 (155)
37	GNOMAD	ss4290396808	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5216621252	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5216621253	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5216621254	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5216621255	Apr 27, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5298767381	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5298767382	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5298767383	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5298767384	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5492464865	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5492464866	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5492464867	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5770550639	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5770550640	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5770550641	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5770550643	Oct 16, 2022 (156)
53	EVA	ss5828329124	Oct 16, 2022 (156)
54	EVA	ss5828329125	Oct 16, 2022 (156)
55	EVA	ss5828329126	Oct 16, 2022 (156)
56	EVA	ss5851333543	Oct 16, 2022 (156)
57	EVA	ss5980875537	Oct 16, 2022 (156)
58	1000Genomes	NC_000015.9 - 64448020	Oct 12, 2018 (152)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37158650 (NC_000015.9:64448019::A 3300/3854) Row 37158651 (NC_000015.9:64448019::AA 233/3854)	-	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37158650 (NC_000015.9:64448019::A 3300/3854) Row 37158651 (NC_000015.9:64448019::AA 233/3854)	-	Oct 12, 2018 (152)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 471790088 (NC_000015.10:64155820::A 89298/132342) Row 471790089 (NC_000015.10:64155820::AA 5929/132306) Row 471790090 (NC_000015.10:64155820::AAA 189/132428)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 471790088 (NC_000015.10:64155820::A 89298/132342) Row 471790089 (NC_000015.10:64155820::AA 5929/132306) Row 471790090 (NC_000015.10:64155820::AAA 189/132428)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 471790088 (NC_000015.10:64155820::A 89298/132342) Row 471790089 (NC_000015.10:64155820::AA 5929/132306) Row 471790090 (NC_000015.10:64155820::AAA 189/132428)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 471790088 (NC_000015.10:64155820::A 89298/132342) Row 471790089 (NC_000015.10:64155820::AA 5929/132306) Row 471790090 (NC_000015.10:64155820::AAA 189/132428)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 471790088 (NC_000015.10:64155820::A 89298/132342) Row 471790089 (NC_000015.10:64155820::AA 5929/132306) Row 471790090 (NC_000015.10:64155820::AAA 189/132428)...	-	Apr 27, 2021 (155)
66	Northern Sweden Submission ignored due to conflicting rows: Row 14289989 (NC_000015.9:64448019::A 454/554) Row 14289990 (NC_000015.9:64448019::AA 25/554)	-	Jul 13, 2019 (153)
67	Northern Sweden Submission ignored due to conflicting rows: Row 14289989 (NC_000015.9:64448019::A 454/554) Row 14289990 (NC_000015.9:64448019::AA 25/554)	-	Jul 13, 2019 (153)
68	8.3KJPN Submission ignored due to conflicting rows: Row 74590559 (NC_000015.9:64448019::A 14520/16734) Row 74590560 (NC_000015.9:64448019::AA 1072/16734) Row 74590561 (NC_000015.9:64448019::AAA 8/16734)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 74590559 (NC_000015.9:64448019::A 14520/16734) Row 74590560 (NC_000015.9:64448019::AA 1072/16734) Row 74590561 (NC_000015.9:64448019::AAA 8/16734)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 74590559 (NC_000015.9:64448019::A 14520/16734) Row 74590560 (NC_000015.9:64448019::AA 1072/16734) Row 74590561 (NC_000015.9:64448019::AAA 8/16734)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 74590559 (NC_000015.9:64448019::A 14520/16734) Row 74590560 (NC_000015.9:64448019::AA 1072/16734) Row 74590561 (NC_000015.9:64448019::AAA 8/16734)...	-	Apr 27, 2021 (155)
72	14KJPN Submission ignored due to conflicting rows: Row 104387743 (NC_000015.10:64155820::A 24520/28252) Row 104387744 (NC_000015.10:64155820::AA 1867/28252) Row 104387745 (NC_000015.10:64155820::AAA 18/28252)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 104387743 (NC_000015.10:64155820::A 24520/28252) Row 104387744 (NC_000015.10:64155820::AA 1867/28252) Row 104387745 (NC_000015.10:64155820::AAA 18/28252)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 104387743 (NC_000015.10:64155820::A 24520/28252) Row 104387744 (NC_000015.10:64155820::AA 1867/28252) Row 104387745 (NC_000015.10:64155820::AAA 18/28252)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 104387743 (NC_000015.10:64155820::A 24520/28252) Row 104387744 (NC_000015.10:64155820::AA 1867/28252) Row 104387745 (NC_000015.10:64155820::AAA 18/28252)...	-	Oct 16, 2022 (156)
76	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37158650 (NC_000015.9:64448019::A 3205/3708) Row 37158651 (NC_000015.9:64448019::AA 219/3708)	-	Oct 12, 2018 (152)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37158650 (NC_000015.9:64448019::A 3205/3708) Row 37158651 (NC_000015.9:64448019::AA 219/3708)	-	Oct 12, 2018 (152)
78	ALFA	NC_000015.10 - 64155821	Apr 27, 2021 (155)
79	ClinVar	RCV000347354.3	Oct 16, 2022 (156)
80	ClinVar	RCV000395841.3	Oct 16, 2022 (156)
81	ClinVar	RCV001618559.3	Oct 16, 2022 (156)

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)
rs5813283	May 11, 2012 (137)
rs11395387	May 11, 2012 (137)
rs11449965	May 11, 2012 (137)
rs33951681	May 11, 2012 (137)
rs35436904	May 11, 2012 (137)
rs36034101	May 15, 2013 (138)
rs58051632	May 25, 2008 (130)
rs67080938	May 11, 2012 (137)
rs67080939	Feb 26, 2009 (130)
rs67080940	Feb 26, 2009 (130)
rs67080941	Feb 26, 2009 (130)
rs67185132	May 11, 2012 (137)
rs67185133	Feb 26, 2009 (130)
rs142280831	May 11, 2012 (137)
rs148116189	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4290396808	NC_000015.10:64155820:AAA:	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAA	(self)
1301611929	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss5216621255	NC_000015.9:64448019:AA:	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5770550643	NC_000015.10:64155820:AA:	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAA
ss3698075480, ss5298767384, ss5492464865	NC_000015.10:64155820:A:	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1301611929	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss256170816	NC_000015.8:62235072::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss294864267	NC_000015.8:62235079::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss289262887	NC_000015.8:62235085::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
66924745, ss666651889, ss1374998575, ss1708328725, ss1708328790, ss3013432559, ss3644389407, ss3741005124, ss3787874306, ss3792882401, ss3797766980, ss3834283055, ss5216621252, ss5828329124, ss5980875537	NC_000015.9:64448019::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss2137084620, ss3645387880, ss3818518286, ss3846229718, ss4290396804, ss5298767382, ss5492464866, ss5770550639, ss5851333543	NC_000015.10:64155820::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
RCV000347354.3, RCV001618559.3, 1301611929	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3698075479	NC_000015.10:64155821::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3698075482	NC_000015.10:64155833::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss40637860	NT_010194.17:35238576::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss82186929, ss95661151	NT_010194.17:35238589::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss193387734	NT_010194.18:40878946::A	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1708328726, ss1708328791, ss3013432560, ss3741005125, ss5216621253, ss5828329125	NC_000015.9:64448019::AA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss2137084621, ss4290396805, ss5298767381, ss5492464867, ss5770550640	NC_000015.10:64155820::AA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
RCV000395841.3, 1301611929	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3698075478	NC_000015.10:64155821::AA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3013432561, ss5216621254, ss5828329126	NC_000015.9:64448019::AAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4290396806, ss5298767383, ss5770550641	NC_000015.10:64155820::AAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1301611929	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3698075477	NC_000015.10:64155821::AAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1301611929	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000015.10:64155820:AAAAAAAAAAAA… NC_000015.10:64155820:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(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 rs5813282

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

rs5813282