Name: rs33933983
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.

rs33933983

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:13280392-13280403 (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: del(C)₇ / del(C)₆ / del(C)₅ / del(…
del(C)₇ / del(C)₆ / del(C)₅ / del(C)₄ / delCCC / delCC / delC / dupC / dupCC
Variation Type: Indel Insertion and Deletion
Frequency: delC=0.2103 (1846/8776, ALFA)
delCC=0.4163 (2085/5008, 1000G)
delCC=0.0833 (321/3854, ALSPAC) (+ 1 more)
(C)₁₂=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TASP1 : Intron Variant
ISM1 : 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	8776	CCCCCCCCCCCC=0.7702	CCCCC=0.0000, CCCCCC=0.0000, CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0181, CCCCCCCCCCC=0.2103, CCCCCCCCCCCCC=0.0014, CCCCCCCCCCCCCC=0.0000	0.669351	0.090478	0.240171	32
European	Sub	7826	CCCCCCCCCCCC=0.7429	CCCCC=0.0000, CCCCCC=0.0000, CCCCCCC=0.0000, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0202, CCCCCCCCCCC=0.2354, CCCCCCCCCCCCC=0.0015, CCCCCCCCCCCCCC=0.0000	0.628068	0.101654	0.270277	32
African	Sub	442	CCCCCCCCCCCC=1.000	CCCCC=0.000, CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	10	CCCCCCCCCCCC=1.0	CCCCC=0.0, CCCCCC=0.0, CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
African American	Sub	432	CCCCCCCCCCCC=1.000	CCCCC=0.000, CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	38	CCCCCCCCCCCC=1.00	CCCCC=0.00, CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	34	CCCCCCCCCCCC=1.00	CCCCC=0.00, CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	CCCCCCCCCCCC=1.0	CCCCC=0.0, CCCCCC=0.0, CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0, CCCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	48	CCCCCCCCCCCC=1.00	CCCCC=0.00, CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	224	CCCCCCCCCCCC=1.000	CCCCC=0.000, CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	56	CCCCCCCCCCCC=1.00	CCCCC=0.00, CCCCCC=0.00, CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other	Sub	142	CCCCCCCCCCCC=0.965	CCCCC=0.000, CCCCCC=0.000, CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.007, CCCCCCCCCCC=0.028, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	0.971429	0.014286	0.014286	17

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
Allele Frequency Aggregator	Total	Global	8776	(C)₁₂=0.7702	del(C)₇=0.0000, del(C)₆=0.0000, del(C)₅=0.0000, del(C)₄=0.0000, delCCC=0.0000, delCC=0.0181, delC=0.2103, dupC=0.0014, dupCC=0.0000
Allele Frequency Aggregator	European	Sub	7826	(C)₁₂=0.7429	del(C)₇=0.0000, del(C)₆=0.0000, del(C)₅=0.0000, del(C)₄=0.0000, delCCC=0.0000, delCC=0.0202, delC=0.2354, dupC=0.0015, dupCC=0.0000
Allele Frequency Aggregator	African	Sub	442	(C)₁₂=1.000	del(C)₇=0.000, del(C)₆=0.000, del(C)₅=0.000, del(C)₄=0.000, delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	Latin American 2	Sub	224	(C)₁₂=1.000	del(C)₇=0.000, del(C)₆=0.000, del(C)₅=0.000, del(C)₄=0.000, delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	Other	Sub	142	(C)₁₂=0.965	del(C)₇=0.000, del(C)₆=0.000, del(C)₅=0.000, del(C)₄=0.000, delCCC=0.000, delCC=0.007, delC=0.028, dupC=0.000, dupCC=0.000
Allele Frequency Aggregator	South Asian	Sub	56	(C)₁₂=1.00	del(C)₇=0.00, del(C)₆=0.00, del(C)₅=0.00, del(C)₄=0.00, delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	48	(C)₁₂=1.00	del(C)₇=0.00, del(C)₆=0.00, del(C)₅=0.00, del(C)₄=0.00, delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00
Allele Frequency Aggregator	Asian	Sub	38	(C)₁₂=1.00	del(C)₇=0.00, del(C)₆=0.00, del(C)₅=0.00, del(C)₄=0.00, delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00
1000Genomes	Global	Study-wide	5008	(C)₁₂=0.5837	delCC=0.4163
1000Genomes	African	Sub	1322	(C)₁₂=0.2201	delCC=0.7799
1000Genomes	East Asian	Sub	1008	(C)₁₂=0.6091	delCC=0.3909
1000Genomes	Europe	Sub	1006	(C)₁₂=0.7396	delCC=0.2604
1000Genomes	South Asian	Sub	978	(C)₁₂=0.833	delCC=0.167
1000Genomes	American	Sub	694	(C)₁₂=0.661	delCC=0.339
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(C)₁₂=0.9167	delCC=0.0833
The Danish reference pan genome	Danish	Study-wide	40	(C)₁₂=0.38	delC=0.62

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 20	NC_000020.11:g.13280397_13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280398_13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280399_13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280400_13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280401_13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280402_13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280403del
GRCh38.p14 chr 20	NC_000020.11:g.13280403dup
GRCh38.p14 chr 20	NC_000020.11:g.13280402_13280403dup
GRCh37.p13 chr 20	NC_000020.10:g.13261044_13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261045_13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261046_13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261047_13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261048_13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261049_13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261050del
GRCh37.p13 chr 20	NC_000020.10:g.13261050dup
GRCh37.p13 chr 20	NC_000020.10:g.13261049_13261050dup

Gene: ISM1, isthmin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ISM1 transcript	NM_080826.2:c.643+499_643… NM_080826.2:c.643+499_643+505del	N/A	Intron Variant
ISM1 transcript variant X1	XM_017027680.2:c.643+499_… XM_017027680.2:c.643+499_643+505del	N/A	Intron Variant

Gene: TASP1, taspase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TASP1 transcript variant 2	NM_001323602.2:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 3	NM_001323603.2:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 4	NM_001323604.2:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 1	NM_017714.3:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 5	NR_136628.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 6	NR_136629.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 7	NR_136630.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant 8	NR_136631.2:n.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X12	XM_017027929.3:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X14	XM_017027931.3:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X1	XM_047440267.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X2	XM_047440268.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X4	XM_047440269.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X6	XM_047440270.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X7	XM_047440271.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X8	XM_047440272.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X9	XM_047440273.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X10	XM_047440274.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X11	XM_047440275.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X13	XM_047440276.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X15	XM_047440277.1:c.	N/A	Genic Downstream Transcript Variant
TASP1 transcript variant X5	XR_001754319.3:n.	N/A	Intron Variant
TASP1 transcript variant X3	XR_007067463.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(C)₁₂=	del(C)₇	del(C)₆	del(C)₅	del(C)₄	delCCC	delCC	delC	dupC	dupCC
GRCh38.p14 chr 20	NC_000020.11:g.13280392_13280403=	NC_000020.11:g.13280397_13280403del	NC_000020.11:g.13280398_13280403del	NC_000020.11:g.13280399_13280403del	NC_000020.11:g.13280400_13280403del	NC_000020.11:g.13280401_13280403del	NC_000020.11:g.13280402_13280403del	NC_000020.11:g.13280403del	NC_000020.11:g.13280403dup	NC_000020.11:g.13280402_13280403dup
GRCh37.p13 chr 20	NC_000020.10:g.13261039_13261050=	NC_000020.10:g.13261044_13261050del	NC_000020.10:g.13261045_13261050del	NC_000020.10:g.13261046_13261050del	NC_000020.10:g.13261047_13261050del	NC_000020.10:g.13261048_13261050del	NC_000020.10:g.13261049_13261050del	NC_000020.10:g.13261050del	NC_000020.10:g.13261050dup	NC_000020.10:g.13261049_13261050dup
ISM1 transcript	NM_080826.1:c.643+494=	NM_080826.1:c.643+499_643+505del	NM_080826.1:c.643+500_643+505del	NM_080826.1:c.643+501_643+505del	NM_080826.1:c.643+502_643+505del	NM_080826.1:c.643+503_643+505del	NM_080826.1:c.643+504_643+505del	NM_080826.1:c.643+505del	NM_080826.1:c.643+505dup	NM_080826.1:c.643+504_643+505dup
ISM1 transcript	NM_080826.2:c.643+494=	NM_080826.2:c.643+499_643+505del	NM_080826.2:c.643+500_643+505del	NM_080826.2:c.643+501_643+505del	NM_080826.2:c.643+502_643+505del	NM_080826.2:c.643+503_643+505del	NM_080826.2:c.643+504_643+505del	NM_080826.2:c.643+505del	NM_080826.2:c.643+505dup	NM_080826.2:c.643+504_643+505dup
ISM1 transcript variant X1	XM_017027680.2:c.643+494=	XM_017027680.2:c.643+499_643+505del	XM_017027680.2:c.643+500_643+505del	XM_017027680.2:c.643+501_643+505del	XM_017027680.2:c.643+502_643+505del	XM_017027680.2:c.643+503_643+505del	XM_017027680.2:c.643+504_643+505del	XM_017027680.2:c.643+505del	XM_017027680.2:c.643+505dup	XM_017027680.2:c.643+504_643+505dup

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#.

66 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95736344	Mar 15, 2016 (147)
2	BGI	ss104731686	Mar 15, 2016 (147)
3	BGI	ss105497463	Mar 15, 2016 (147)
4	BUSHMAN	ss193604543	Mar 15, 2016 (147)
5	BL	ss256191654	May 09, 2011 (137)
6	PJP	ss295040050	Aug 21, 2014 (142)
7	PJP	ss295040051	May 09, 2011 (138)
8	TISHKOFF	ss554975690	Apr 25, 2013 (138)
9	TISHKOFF	ss554975692	Apr 25, 2013 (138)
10	TISHKOFF	ss554975694	Apr 25, 2013 (138)
11	TISHKOFF	ss554975696	Apr 25, 2013 (138)
12	TISHKOFF	ss554975700	Apr 25, 2013 (138)
13	TISHKOFF	ss554975702	Apr 25, 2013 (138)
14	SSMP	ss664462325	Apr 01, 2015 (144)
15	BILGI_BIOE	ss666740716	Apr 25, 2013 (138)
16	1000GENOMES	ss1378391365	Aug 21, 2014 (142)
17	EVA_GENOME_DK	ss1575679835	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1709302546	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1709304152	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1710806549	Apr 01, 2015 (144)
21	EVA_UK10K_TWINSUK	ss1710806550	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1809432558	Sep 08, 2015 (146)
23	HAMMER_LAB	ss1809432559	Sep 08, 2015 (146)
24	SWEGEN	ss3017902468	Nov 08, 2017 (151)
25	EVA_DECODE	ss3706601692	Jul 13, 2019 (153)
26	EVA_DECODE	ss3706601693	Jul 13, 2019 (153)
27	EVA_DECODE	ss3706601694	Jul 13, 2019 (153)
28	EVA_DECODE	ss3706601695	Jul 13, 2019 (153)
29	ACPOP	ss3743268367	Jul 13, 2019 (153)
30	ACPOP	ss3743268368	Jul 13, 2019 (153)
31	PACBIO	ss3788605506	Jul 13, 2019 (153)
32	PACBIO	ss3793504953	Jul 13, 2019 (153)
33	PACBIO	ss3798392115	Jul 13, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3821622052	Jul 13, 2019 (153)
35	EVA	ss3835599708	Apr 27, 2020 (154)
36	KOGIC	ss3981862006	Apr 27, 2020 (154)
37	KOGIC	ss3981862007	Apr 27, 2020 (154)
38	KOGIC	ss3981862008	Apr 27, 2020 (154)
39	GNOMAD	ss4335431431	Apr 26, 2021 (155)
40	GNOMAD	ss4335431432	Apr 26, 2021 (155)
41	GNOMAD	ss4335431433	Apr 26, 2021 (155)
42	GNOMAD	ss4335431434	Apr 26, 2021 (155)
43	GNOMAD	ss4335431435	Apr 26, 2021 (155)
44	GNOMAD	ss4335431436	Apr 26, 2021 (155)
45	GNOMAD	ss4335431437	Apr 26, 2021 (155)
46	GNOMAD	ss4335431438	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5228934080	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5228934081	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5228934082	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5228934083	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5308159750	Oct 13, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5308159751	Oct 13, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5308159752	Oct 13, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5308159753	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5500552979	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5500552980	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5500552981	Oct 13, 2022 (156)
58	HUGCELL_USP	ss5500552982	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5787947157	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5787947158	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5787947159	Oct 13, 2022 (156)
62	TOMMO_GENOMICS	ss5787947160	Oct 13, 2022 (156)
63	EVA	ss5845474601	Oct 13, 2022 (156)
64	EVA	ss5845474602	Oct 13, 2022 (156)
65	EVA	ss5853078598	Oct 13, 2022 (156)
66	EVA	ss5981077677	Oct 13, 2022 (156)
67	1000Genomes	NC_000020.10 - 13261039	Oct 12, 2018 (152)
68	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 13261039	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000020.10 - 13261039	Apr 27, 2020 (154)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547092499 (NC_000020.11:13280391::C 888/123118) Row 547092500 (NC_000020.11:13280391::CC 5/123190) Row 547092501 (NC_000020.11:13280391:C: 53479/122714)...	-	Apr 26, 2021 (155)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 38240007 (NC_000020.11:13280391:CC: 487/1832) Row 38240008 (NC_000020.11:13280392:C: 386/1832) Row 38240009 (NC_000020.11:13280393::C 14/1832)	-	Apr 27, 2020 (154)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 38240007 (NC_000020.11:13280391:CC: 487/1832) Row 38240008 (NC_000020.11:13280392:C: 386/1832) Row 38240009 (NC_000020.11:13280393::C 14/1832)	-	Apr 27, 2020 (154)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 38240007 (NC_000020.11:13280391:CC: 487/1832) Row 38240008 (NC_000020.11:13280392:C: 386/1832) Row 38240009 (NC_000020.11:13280393::C 14/1832)	-	Apr 27, 2020 (154)
81	Northern Sweden Submission ignored due to conflicting rows: Row 16553232 (NC_000020.10:13261038:C: 281/600) Row 16553233 (NC_000020.10:13261038:CC: 30/600)	-	Jul 13, 2019 (153)
82	Northern Sweden Submission ignored due to conflicting rows: Row 16553232 (NC_000020.10:13261038:C: 281/600) Row 16553233 (NC_000020.10:13261038:CC: 30/600)	-	Jul 13, 2019 (153)
83	8.3KJPN Submission ignored due to conflicting rows: Row 86903387 (NC_000020.10:13261038:C: 4587/16722) Row 86903388 (NC_000020.10:13261038:CC: 4468/16722) Row 86903389 (NC_000020.10:13261038:CCC: 19/16722)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 86903387 (NC_000020.10:13261038:C: 4587/16722) Row 86903388 (NC_000020.10:13261038:CC: 4468/16722) Row 86903389 (NC_000020.10:13261038:CCC: 19/16722)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 86903387 (NC_000020.10:13261038:C: 4587/16722) Row 86903388 (NC_000020.10:13261038:CC: 4468/16722) Row 86903389 (NC_000020.10:13261038:CCC: 19/16722)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 86903387 (NC_000020.10:13261038:C: 4587/16722) Row 86903388 (NC_000020.10:13261038:CC: 4468/16722) Row 86903389 (NC_000020.10:13261038:CCC: 19/16722)...	-	Apr 26, 2021 (155)
87	14KJPN Submission ignored due to conflicting rows: Row 121784261 (NC_000020.11:13280391:C: 7708/28248) Row 121784262 (NC_000020.11:13280391:CC: 7587/28248) Row 121784263 (NC_000020.11:13280391::C 229/28248)...	-	Oct 13, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 121784261 (NC_000020.11:13280391:C: 7708/28248) Row 121784262 (NC_000020.11:13280391:CC: 7587/28248) Row 121784263 (NC_000020.11:13280391::C 229/28248)...	-	Oct 13, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 121784261 (NC_000020.11:13280391:C: 7708/28248) Row 121784262 (NC_000020.11:13280391:CC: 7587/28248) Row 121784263 (NC_000020.11:13280391::C 229/28248)...	-	Oct 13, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 121784261 (NC_000020.11:13280391:C: 7708/28248) Row 121784262 (NC_000020.11:13280391:CC: 7587/28248) Row 121784263 (NC_000020.11:13280391::C 229/28248)...	-	Oct 13, 2022 (156)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42956303 (NC_000020.10:13261039:C: 1900/3708) Row 42956304 (NC_000020.10:13261038:CC: 327/3708)	-	Apr 27, 2020 (154)
92	UK 10K study - Twins	-	Oct 12, 2018 (152)
93	ALFA	NC_000020.11 - 13280392	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs374106316	May 13, 2013 (138)
rs72584016	Feb 25, 2009 (130)
rs71188151	Dec 02, 2009 (131)
rs147969312	May 04, 2012 (137)
rs368519289	May 13, 2013 (138)
rs370908029	May 15, 2013 (138)
rs374521621	May 15, 2013 (138)
rs375571924	May 15, 2013 (138)
rs377156226	May 15, 2013 (138)
rs145346093	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4335431438	NC_000020.11:13280391:CCCCCCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCC	(self)
ss4335431437	NC_000020.11:13280391:CCCCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCC	(self)
ss4335431436	NC_000020.11:13280391:CCCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCC	(self)
ss5228934082	NC_000020.10:13261038:CCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC	(self)
ss554975696	NC_000020.10:13261047:CCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC	(self)
ss3706601695, ss4335431435, ss5308159752, ss5500552982, ss5787947160	NC_000020.11:13280391:CCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC	(self)
ss104731686, ss105497463	NT_011387.8:13201047:CCC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCC	(self)
ss295040050	NC_000020.9:13209038:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
ss295040051	NC_000020.9:13209048:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
77592981, 42956304, ss664462325, ss1378391365, ss1709302546, ss1709304152, ss1809432559, ss3017902468, ss3743268368, ss5228934081, ss5845474602, ss5981077677	NC_000020.10:13261038:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
ss554975700	NC_000020.10:13261048:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
ss3821622052, ss3981862006, ss4335431434, ss5308159751, ss5500552980, ss5787947158, ss5853078598	NC_000020.11:13280391:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
ss3706601694	NC_000020.11:13280392:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
ss95736344, ss193604543	NT_011387.8:13201038:CC:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCC	(self)
ss256191654	NC_000020.9:13209038:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
750283, ss666740716, ss1575679835, ss1809432558, ss3743268367, ss3788605506, ss3793504953, ss3798392115, ss3835599708, ss5228934080, ss5845474601	NC_000020.10:13261038:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss554975690, ss1710806549, ss1710806550	NC_000020.10:13261039:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss554975692	NC_000020.10:13261040:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss554975694	NC_000020.10:13261045:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss554975702	NC_000020.10:13261049:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss4335431433, ss5308159750, ss5500552979, ss5787947157	NC_000020.11:13280391:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss3981862007	NC_000020.11:13280392:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss3706601693	NC_000020.11:13280393:C:	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss104731686, ss105497463	NT_011387.8:13201047:CCC:CC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCC	(self)
ss5228934083	NC_000020.10:13261038::C	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4335431431, ss5308159753, ss5500552981, ss5787947159	NC_000020.11:13280391::C	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss3981862008	NC_000020.11:13280393::C	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss3706601692	NC_000020.11:13280394::C	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4335431432	NC_000020.11:13280391::CC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
5372289761	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCCC	NC_000020.11:13280391:CCCCCCCCCCCC… NC_000020.11:13280391:CCCCCCCCCCCC:CCCCCCCCCCCCCC	(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 rs33933983

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

rs33933983