Name: rs5873849
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.

rs5873849

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2968465-2968475 (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: delAA / delA / dupA
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₁=0.138672 (36705/264690, TOPMED)
(A)₁₁=0.07017 (1176/16760, 8.3KJPN)
(A)₁₁=0.1966 (1358/6906, ALFA) (+ 7 more)
(A)₁₁=0.1029 (659/6404, 1000G_30x)
(A)₁₁=0.1050 (526/5008, 1000G)
(A)₁₁=0.1663 (641/3854, ALSPAC)
(A)₁₁=0.1675 (621/3708, TWINSUK)
(A)₁₁=0.174 (174/998, GoNL)
(A)₁₁=0.171 (102/598, NorthernSweden)
(A)₁₁=0.30 (12/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINB6 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	6906	AAAAAAAAAAA=0.1966	AAAAAAAAA=0.0000, AAAAAAAAAA=0.8034, AAAAAAAAAAAA=0.0000	0.059369	0.666087	0.274544	31
European	Sub	6712	AAAAAAAAAAA=0.1895	AAAAAAAAA=0.0000, AAAAAAAAAA=0.8105, AAAAAAAAAAAA=0.0000	0.050656	0.671633	0.277712	17
African	Sub	118	AAAAAAAAAAA=0.398	AAAAAAAAA=0.000, AAAAAAAAAA=0.602, AAAAAAAAAAAA=0.000	0.305085	0.508475	0.186441	12
African Others	Sub	6	AAAAAAAAAAA=0.0	AAAAAAAAA=0.0, AAAAAAAAAA=1.0, AAAAAAAAAAAA=0.0	0.0	1.0	0.0	N/A
African American	Sub	112	AAAAAAAAAAA=0.420	AAAAAAAAA=0.000, AAAAAAAAAA=0.580, AAAAAAAAAAAA=0.000	0.321429	0.482143	0.196429	11
Asian	Sub	4	AAAAAAAAAAA=0.0	AAAAAAAAA=0.0, AAAAAAAAAA=1.0, AAAAAAAAAAAA=0.0	0.0	1.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAA=0.0	AAAAAAAAA=0.0, AAAAAAAAAA=1.0, AAAAAAAAAAAA=0.0	0.0	1.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAA=0.0	AAAAAAAAA=0.0, AAAAAAAAAA=1.0, AAAAAAAAAAAA=0.0	0.0	1.0	0.0	N/A
Latin American 1	Sub	4	AAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	16	AAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	6	AAAAAAAAAAA=0.3	AAAAAAAAA=0.0, AAAAAAAAAA=0.7, AAAAAAAAAAAA=0.0	0.333333	0.666667	0.0	2
Other	Sub	46	AAAAAAAAAAA=0.37	AAAAAAAAA=0.00, AAAAAAAAAA=0.63, AAAAAAAAAAAA=0.00	0.26087	0.521739	0.217391	4

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	(A)₁₁=0.138672	delA=0.861328
8.3KJPN	JAPANESE	Study-wide	16760	(A)₁₁=0.07017	delA=0.92983
Allele Frequency Aggregator	Total	Global	6906	(A)₁₁=0.1966	delAA=0.0000, delA=0.8034, dupA=0.0000
Allele Frequency Aggregator	European	Sub	6712	(A)₁₁=0.1895	delAA=0.0000, delA=0.8105, dupA=0.0000
Allele Frequency Aggregator	African	Sub	118	(A)₁₁=0.398	delAA=0.000, delA=0.602, dupA=0.000
Allele Frequency Aggregator	Other	Sub	46	(A)₁₁=0.37	delAA=0.00, delA=0.63, dupA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	16	(A)₁₁=1.00	delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	6	(A)₁₁=0.3	delAA=0.0, delA=0.7, dupA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₁₁=1.0	delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₁₁=0.0	delAA=0.0, delA=1.0, dupA=0.0
1000Genomes_30x	Global	Study-wide	6404	(A)₁₁=0.1029	delA=0.8971
1000Genomes_30x	African	Sub	1786	(A)₁₁=0.0985	delA=0.9015
1000Genomes_30x	Europe	Sub	1266	(A)₁₁=0.1532	delA=0.8468
1000Genomes_30x	South Asian	Sub	1202	(A)₁₁=0.0691	delA=0.9309
1000Genomes_30x	East Asian	Sub	1170	(A)₁₁=0.0556	delA=0.9444
1000Genomes_30x	American	Sub	980	(A)₁₁=0.144	delA=0.856
1000Genomes	Global	Study-wide	5008	(A)₁₁=0.1050	delA=0.8950
1000Genomes	African	Sub	1322	(A)₁₁=0.0991	delA=0.9009
1000Genomes	East Asian	Sub	1008	(A)₁₁=0.0585	delA=0.9415
1000Genomes	Europe	Sub	1006	(A)₁₁=0.1561	delA=0.8439
1000Genomes	South Asian	Sub	978	(A)₁₁=0.075	delA=0.925
1000Genomes	American	Sub	694	(A)₁₁=0.153	delA=0.847
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₁=0.1663	delA=0.8337
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₁=0.1675	delA=0.8325
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	(A)₁₁=0.174	delA=0.826
Northern Sweden	ACPOP	Study-wide	598	(A)₁₁=0.171	delA=0.829
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₁=0.30	delA=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 6	NC_000006.12:g.2968474_2968475del
GRCh38.p14 chr 6	NC_000006.12:g.2968475del
GRCh38.p14 chr 6	NC_000006.12:g.2968475dup
GRCh37.p13 chr 6	NC_000006.11:g.2968708_2968709del
GRCh37.p13 chr 6	NC_000006.11:g.2968709del
GRCh37.p13 chr 6	NC_000006.11:g.2968709dup
SERPINB6 RefSeqGene	NG_027692.1:g.8700_8701del
SERPINB6 RefSeqGene	NG_027692.1:g.8701del
SERPINB6 RefSeqGene	NG_027692.1:g.8701dup

Gene: SERPINB6, serpin family B member 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINB6 transcript variant 2	NM_001195291.3:c.2+313_2+… NM_001195291.3:c.2+313_2+314del	N/A	Intron Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.32+2651_… NM_001271822.2:c.32+2651_32+2652del	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.47+2292_… NM_001271823.2:c.47+2292_47+2293del	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.-11+3025… NM_001271824.2:c.-11+3025_-11+3026del	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.-11+2782… NM_001297699.2:c.-11+2782_-11+2783del	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.-11+3126… NM_001297700.2:c.-11+3126_-11+3127del	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.2+313_2+… NM_001374515.1:c.2+313_2+314del	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.-11+2230… NM_001374516.1:c.-11+2230_-11+2231del	N/A	Intron Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.33+313_3… NM_001374517.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.-11+3067_-1… NM_004568.6:c.-11+3067_-11+3068del	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.	N/A	Genic Upstream Transcript Variant
SERPINB6 transcript variant 12	NR_164657.1:n.	N/A	Intron Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.33+313_3… XM_011514672.2:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.33+313_3… XM_017010941.2:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.33+313_3… XM_024446465.2:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.33+313_3… XM_047418883.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.33+313_3… XM_047418884.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.33+313_3… XM_047418885.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.33+313_3… XM_047418887.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.33+313_3… XM_047418888.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.2+313_2+… XM_047418889.1:c.2+313_2+314del	N/A	Intron Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.2+333_2+… XM_047418890.1:c.2+333_2+334del	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.33+313_3… XM_047418893.1:c.33+313_33+314del	N/A	Intron Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.	N/A	Genic Upstream Transcript Variant
SERPINB6 transcript variant X8	XM_047418892.1: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.

Allele: delA (allele ID: 1266234 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001690670.1	not provided	Benign

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)₁₁=	delAA	delA	dupA
GRCh38.p14 chr 6	NC_000006.12:g.2968465_2968475=	NC_000006.12:g.2968474_2968475del	NC_000006.12:g.2968475del	NC_000006.12:g.2968475dup
GRCh37.p13 chr 6	NC_000006.11:g.2968699_2968709=	NC_000006.11:g.2968708_2968709del	NC_000006.11:g.2968709del	NC_000006.11:g.2968709dup
SERPINB6 RefSeqGene	NG_027692.1:g.8691_8701=	NG_027692.1:g.8700_8701del	NG_027692.1:g.8701del	NG_027692.1:g.8701dup
SERPINB6 transcript variant 2	NM_001195291.2:c.2+314=	NM_001195291.2:c.2+313_2+314del	NM_001195291.2:c.2+314del	NM_001195291.2:c.2+314dup
SERPINB6 transcript variant 2	NM_001195291.3:c.2+314=	NM_001195291.3:c.2+313_2+314del	NM_001195291.3:c.2+314del	NM_001195291.3:c.2+314dup
SERPINB6 transcript variant 3	NM_001271822.1:c.32+2652=	NM_001271822.1:c.32+2651_32+2652del	NM_001271822.1:c.32+2652del	NM_001271822.1:c.32+2652dup
SERPINB6 transcript variant 3	NM_001271822.2:c.32+2652=	NM_001271822.2:c.32+2651_32+2652del	NM_001271822.2:c.32+2652del	NM_001271822.2:c.32+2652dup
SERPINB6 transcript variant 4	NM_001271823.1:c.47+2293=	NM_001271823.1:c.47+2292_47+2293del	NM_001271823.1:c.47+2293del	NM_001271823.1:c.47+2293dup
SERPINB6 transcript variant 4	NM_001271823.2:c.47+2293=	NM_001271823.2:c.47+2292_47+2293del	NM_001271823.2:c.47+2293del	NM_001271823.2:c.47+2293dup
SERPINB6 transcript variant 5	NM_001271824.1:c.-11+3026=	NM_001271824.1:c.-11+3025_-11+3026del	NM_001271824.1:c.-11+3026del	NM_001271824.1:c.-11+3026dup
SERPINB6 transcript variant 5	NM_001271824.2:c.-11+3026=	NM_001271824.2:c.-11+3025_-11+3026del	NM_001271824.2:c.-11+3026del	NM_001271824.2:c.-11+3026dup
SERPINB6 transcript variant 7	NM_001297699.2:c.-11+2783=	NM_001297699.2:c.-11+2782_-11+2783del	NM_001297699.2:c.-11+2783del	NM_001297699.2:c.-11+2783dup
SERPINB6 transcript variant 8	NM_001297700.2:c.-11+3127=	NM_001297700.2:c.-11+3126_-11+3127del	NM_001297700.2:c.-11+3127del	NM_001297700.2:c.-11+3127dup
SERPINB6 transcript variant 9	NM_001374515.1:c.2+314=	NM_001374515.1:c.2+313_2+314del	NM_001374515.1:c.2+314del	NM_001374515.1:c.2+314dup
SERPINB6 transcript variant 10	NM_001374516.1:c.-11+2231=	NM_001374516.1:c.-11+2230_-11+2231del	NM_001374516.1:c.-11+2231del	NM_001374516.1:c.-11+2231dup
SERPINB6 transcript variant 11	NM_001374517.1:c.33+314=	NM_001374517.1:c.33+313_33+314del	NM_001374517.1:c.33+314del	NM_001374517.1:c.33+314dup
SERPINB6 transcript variant 1	NM_004568.5:c.-11+3068=	NM_004568.5:c.-11+3067_-11+3068del	NM_004568.5:c.-11+3068del	NM_004568.5:c.-11+3068dup
SERPINB6 transcript variant 1	NM_004568.6:c.-11+3068=	NM_004568.6:c.-11+3067_-11+3068del	NM_004568.6:c.-11+3068del	NM_004568.6:c.-11+3068dup
SERPINB6 transcript variant X2	XM_005249182.1:c.-11+2783=	XM_005249182.1:c.-11+2782_-11+2783del	XM_005249182.1:c.-11+2783del	XM_005249182.1:c.-11+2783dup
SERPINB6 transcript variant X2	XM_011514672.2:c.33+314=	XM_011514672.2:c.33+313_33+314del	XM_011514672.2:c.33+314del	XM_011514672.2:c.33+314dup
SERPINB6 transcript variant X10	XM_017010941.2:c.33+314=	XM_017010941.2:c.33+313_33+314del	XM_017010941.2:c.33+314del	XM_017010941.2:c.33+314dup
SERPINB6 transcript variant X13	XM_024446465.2:c.33+314=	XM_024446465.2:c.33+313_33+314del	XM_024446465.2:c.33+314del	XM_024446465.2:c.33+314dup
SERPINB6 transcript variant X1	XM_047418883.1:c.33+314=	XM_047418883.1:c.33+313_33+314del	XM_047418883.1:c.33+314del	XM_047418883.1:c.33+314dup
SERPINB6 transcript variant X3	XM_047418884.1:c.33+314=	XM_047418884.1:c.33+313_33+314del	XM_047418884.1:c.33+314del	XM_047418884.1:c.33+314dup
SERPINB6 transcript variant X4	XM_047418885.1:c.33+314=	XM_047418885.1:c.33+313_33+314del	XM_047418885.1:c.33+314del	XM_047418885.1:c.33+314dup
SERPINB6 transcript variant X5	XM_047418887.1:c.33+314=	XM_047418887.1:c.33+313_33+314del	XM_047418887.1:c.33+314del	XM_047418887.1:c.33+314dup
SERPINB6 transcript variant X6	XM_047418888.1:c.33+314=	XM_047418888.1:c.33+313_33+314del	XM_047418888.1:c.33+314del	XM_047418888.1:c.33+314dup
SERPINB6 transcript variant X7	XM_047418889.1:c.2+314=	XM_047418889.1:c.2+313_2+314del	XM_047418889.1:c.2+314del	XM_047418889.1:c.2+314dup
SERPINB6 transcript variant X11	XM_047418890.1:c.2+334=	XM_047418890.1:c.2+333_2+334del	XM_047418890.1:c.2+334del	XM_047418890.1:c.2+334dup
SERPINB6 transcript variant X9	XM_047418893.1:c.33+314=	XM_047418893.1:c.33+313_33+314del	XM_047418893.1:c.33+314del	XM_047418893.1:c.33+314dup

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#.

59 SubSNP, 16 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEVINE_LAB	ss8141611	Mar 15, 2016 (147)
2	HGSV	ss77900581	Sep 08, 2015 (146)
3	HGSV	ss82181179	Sep 08, 2015 (146)
4	HUMANGENOME_JCVI	ss95417294	Dec 05, 2013 (138)
5	BGI	ss104765742	Dec 06, 2013 (138)
6	GMI	ss155025984	Dec 01, 2009 (137)
7	BUSHMAN	ss193841728	Jul 04, 2010 (137)
8	BL	ss256047828	May 09, 2011 (137)
9	GMI	ss287786614	May 09, 2011 (137)
10	GMI	ss288679639	May 04, 2012 (137)
11	PJP	ss295261048	May 09, 2011 (137)
12	PJP	ss295261049	May 09, 2011 (134)
13	SSMP	ss663685835	Apr 01, 2015 (144)
14	BILGI_BIOE	ss666340305	Apr 25, 2013 (138)
15	EVA-GONL	ss982516071	Aug 21, 2014 (142)
16	1000GENOMES	ss1375039259	Aug 21, 2014 (142)
17	DDI	ss1536491787	Apr 01, 2015 (144)
18	EVA_GENOME_DK	ss1576669074	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1705011687	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1705011688	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1804248914	Sep 08, 2015 (146)
22	JJLAB	ss2030736711	Sep 14, 2016 (149)
23	SYSTEMSBIOZJU	ss2626238921	Nov 08, 2017 (151)
24	SWEGEN	ss2998412364	Nov 08, 2017 (151)
25	MCHAISSO	ss3064189363	Nov 08, 2017 (151)
26	MCHAISSO	ss3065065710	Nov 08, 2017 (151)
27	MCHAISSO	ss3066061207	Nov 08, 2017 (151)
28	BEROUKHIMLAB	ss3644202644	Oct 12, 2018 (152)
29	BIOINF_KMB_FNS_UNIBA	ss3645928449	Oct 12, 2018 (152)
30	URBANLAB	ss3648253408	Oct 12, 2018 (152)
31	EVA_DECODE	ss3716455163	Jul 13, 2019 (153)
32	EVA_DECODE	ss3716455164	Jul 13, 2019 (153)
33	ACPOP	ss3733145555	Jul 13, 2019 (153)
34	PACBIO	ss3785353835	Jul 13, 2019 (153)
35	PACBIO	ss3785353836	Jul 13, 2019 (153)
36	PACBIO	ss3790721938	Jul 13, 2019 (153)
37	PACBIO	ss3795599095	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3807693046	Jul 13, 2019 (153)
39	EVA	ss3829696622	Apr 26, 2020 (154)
40	EVA	ss3838322804	Apr 26, 2020 (154)
41	EVA	ss3843762617	Apr 26, 2020 (154)
42	GNOMAD	ss4135865857	Apr 26, 2021 (155)
43	GNOMAD	ss4135865858	Apr 26, 2021 (155)
44	TOPMED	ss4691577474	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5175875015	Apr 26, 2021 (155)
46	EVA	ss5237189007	Apr 26, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5267176279	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5464990944	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5552497633	Oct 13, 2022 (156)
50	EVA	ss5624153998	Oct 13, 2022 (156)
51	SANFORD_IMAGENETICS	ss5639637980	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5713458997	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5713458998	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5713458999	Oct 13, 2022 (156)
55	YY_MCH	ss5807095330	Oct 13, 2022 (156)
56	EVA	ss5841703889	Oct 13, 2022 (156)
57	EVA	ss5855173884	Oct 13, 2022 (156)
58	EVA	ss5882396207	Oct 13, 2022 (156)
59	EVA	ss5968130980	Oct 13, 2022 (156)
60	1000Genomes	NC_000006.11 - 2968699	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000006.12 - 2968465	Oct 13, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2968699	Oct 12, 2018 (152)
63	The Danish reference pan genome	NC_000006.11 - 2968699	Apr 26, 2020 (154)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215322122 (NC_000006.12:2968464::A 28/138882) Row 215322123 (NC_000006.12:2968464:A: 119408/138846) Row 215322124 (NC_000006.12:2968464:AA: 22/138756)	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215322122 (NC_000006.12:2968464::A 28/138882) Row 215322123 (NC_000006.12:2968464:A: 119408/138846) Row 215322124 (NC_000006.12:2968464:AA: 22/138756)	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215322122 (NC_000006.12:2968464::A 28/138882) Row 215322123 (NC_000006.12:2968464:A: 119408/138846) Row 215322124 (NC_000006.12:2968464:AA: 22/138756)	-	Apr 26, 2021 (155)
67	Genome of the Netherlands Release 5	NC_000006.11 - 2968699	Apr 26, 2020 (154)
68	Northern Sweden	NC_000006.11 - 2968699	Jul 13, 2019 (153)
69	8.3KJPN	NC_000006.11 - 2968699	Apr 26, 2021 (155)
70	14KJPN Submission ignored due to conflicting rows: Row 47296101 (NC_000006.12:2968464:A: 26184/28258) Row 47296102 (NC_000006.12:2968464:AA: 15/28258) Row 47296103 (NC_000006.12:2968464::A 1/28258)	-	Oct 13, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 47296101 (NC_000006.12:2968464:A: 26184/28258) Row 47296102 (NC_000006.12:2968464:AA: 15/28258) Row 47296103 (NC_000006.12:2968464::A 1/28258)	-	Oct 13, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 47296101 (NC_000006.12:2968464:A: 26184/28258) Row 47296102 (NC_000006.12:2968464:AA: 15/28258) Row 47296103 (NC_000006.12:2968464::A 1/28258)	-	Oct 13, 2022 (156)
73	TopMed	NC_000006.12 - 2968465	Apr 26, 2021 (155)
74	UK 10K study - Twins	NC_000006.11 - 2968699	Oct 12, 2018 (152)
75	ALFA	NC_000006.12 - 2968465	Apr 26, 2021 (155)
76	ClinVar	RCV001690670.1	Oct 13, 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)
rs869128112	Jul 19, 2016 (147)
rs33970824	May 23, 2006 (127)
rs58713496	May 24, 2008 (130)
rs66709832	May 11, 2012 (137)
rs66709833	Feb 26, 2009 (130)
rs71764085	May 11, 2012 (137)
rs71829930	Feb 26, 2009 (130)
rs79586895	May 11, 2012 (137)
rs148739469	May 04, 2012 (137)
rs376261961	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3785353835	NC_000006.11:2968698:AA:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAA	(self)
ss3716455164, ss4135865858, ss5713458998	NC_000006.12:2968464:AA:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAA	(self)
4694399032	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAA	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAA	(self)
ss77900581, ss82181179	NC_000006.9:2913707:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss256047828, ss288679639, ss295261048	NC_000006.10:2913697:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss295261049	NC_000006.10:2913707:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
30450853, 16948827, 1050062, 7523022, 6430420, 33844322, 16948827, ss663685835, ss666340305, ss982516071, ss1375039259, ss1536491787, ss1576669074, ss1705011687, ss1705011688, ss1804248914, ss2030736711, ss2626238921, ss2998412364, ss3644202644, ss3733145555, ss3785353836, ss3790721938, ss3795599095, ss3829696622, ss3838322804, ss5175875015, ss5624153998, ss5639637980, ss5841703889, ss5968130980	NC_000006.11:2968698:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
40023568, 528955032, ss3064189363, ss3065065710, ss3066061207, ss3645928449, ss3648253408, ss3807693046, ss3843762617, ss4691577474, ss5237189007, ss5267176279, ss5464990944, ss5552497633, ss5713458997, ss5807095330, ss5855173884, ss5882396207	NC_000006.12:2968464:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
RCV001690670.1, 4694399032	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss3716455163	NC_000006.12:2968465:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss155025984, ss287786614	NT_007592.15:2908698:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss104765742	NT_007592.15:2908707:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss8141611, ss95417294	NT_007592.15:2908708:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss193841728	NT_007592.16:2908464:A:	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss4135865857, ss5713458999	NC_000006.12:2968464::A	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAAAA	(self)
4694399032	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAAAA	NC_000006.12:2968464:AAAAAAAAAAA:A… NC_000006.12:2968464:AAAAAAAAAAA:AAAAAAAAAAAA	(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 rs5873849

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

rs5873849