Name: rs542144842
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.

rs542144842

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:26052089-26052095 (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: delCCC / delCC / delC / dupC / dup…
delCCC / delCC / delC / dupC / dupCC / dupCCC / dup(C)₄ / ins(C)₉ / ins(C)₁₀ / ins(C)₁₁ / ins(C)₁₂ / ins(C)₁₃ / ins(C)₁₄ / ins(C)₁₅ / ins(C)₁₉ / ins(C)₂₀ / ins(C)₂₂
Variation Type: Indel Insertion and Deletion
Frequency: (C)₇=0.4213 (2313/5490, ALFA)
(C)₇=0.3039 (1522/5008, 1000G)
(C)₇=0.2846 (1270/4462, Estonian) (+ 2 more)
(C)₇=0.202 (121/600, NorthernSweden)
(C)₇=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SHISA2 : 2KB Upstream Variant
LINC00415 : 500B Downstream 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	5490	CCCCCCC=0.4213	CCCC=0.0000, CCCCC=0.0000, CCCCCC=0.5787, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000	0.268488	0.425865	0.305647	32
European	Sub	5032	CCCCCCC=0.3700	CCCC=0.0000, CCCCC=0.0000, CCCCCC=0.6300, CCCCCCCC=0.0000, CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000	0.203498	0.463434	0.333068	32
African	Sub	270	CCCCCCC=1.000	CCCC=0.000, CCCCC=0.000, CCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	CCCCCCC=1.0	CCCC=0.0, CCCCC=0.0, CCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
African American	Sub	262	CCCCCCC=1.000	CCCC=0.000, CCCCC=0.000, CCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	16	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	12	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	CCCCCCC=1.0	CCCC=0.0, CCCCC=0.0, CCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	12	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	82	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	22	CCCCCCC=1.00	CCCC=0.00, CCCCC=0.00, CCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other	Sub	56	CCCCCCC=0.88	CCCC=0.00, CCCCC=0.00, CCCCCC=0.12, CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCC=0.00	0.857143	0.107143	0.035714	11

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	5490	(C)₇=0.4213	delCCC=0.0000, delCC=0.0000, delC=0.5787, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator	European	Sub	5032	(C)₇=0.3700	delCCC=0.0000, delCC=0.0000, delC=0.6300, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator	African	Sub	270	(C)₇=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Latin American 2	Sub	82	(C)₇=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	Other	Sub	56	(C)₇=0.88	delCCC=0.00, delCC=0.00, delC=0.12, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	South Asian	Sub	22	(C)₇=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	Asian	Sub	16	(C)₇=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	12	(C)₇=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
1000Genomes	Global	Study-wide	5008	(C)₇=0.3039	delC=0.6961
1000Genomes	African	Sub	1322	(C)₇=0.2133	delC=0.7867
1000Genomes	East Asian	Sub	1008	(C)₇=0.3492	delC=0.6508
1000Genomes	Europe	Sub	1006	(C)₇=0.2167	delC=0.7833
1000Genomes	South Asian	Sub	978	(C)₇=0.439	delC=0.561
1000Genomes	American	Sub	694	(C)₇=0.347	delC=0.653
Genetic variation in the Estonian population	Estonian	Study-wide	4462	(C)₇=0.2846	delC=0.7154
Northern Sweden	ACPOP	Study-wide	600	(C)₇=0.202	delC=0.798
The Danish reference pan genome	Danish	Study-wide	40	(C)₇=0.33	delC=0.68

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 13	NC_000013.11:g.26052093_26052095del
GRCh38.p14 chr 13	NC_000013.11:g.26052094_26052095del
GRCh38.p14 chr 13	NC_000013.11:g.26052095del
GRCh38.p14 chr 13	NC_000013.11:g.26052095dup
GRCh38.p14 chr 13	NC_000013.11:g.26052094_26052095dup
GRCh38.p14 chr 13	NC_000013.11:g.26052093_26052095dup
GRCh38.p14 chr 13	NC_000013.11:g.26052092_26052095dup
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCCC
GRCh38.p14 chr 13	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626231_26626233del
GRCh37.p13 chr 13	NC_000013.10:g.26626232_26626233del
GRCh37.p13 chr 13	NC_000013.10:g.26626233del
GRCh37.p13 chr 13	NC_000013.10:g.26626233dup
GRCh37.p13 chr 13	NC_000013.10:g.26626232_26626233dup
GRCh37.p13 chr 13	NC_000013.10:g.26626231_26626233dup
GRCh37.p13 chr 13	NC_000013.10:g.26626230_26626233dup
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCCCCC

Gene: SHISA2, shisa family member 2 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SHISA2 transcript	NM_001007538.2:c.	N/A	Upstream Transcript Variant

Gene: LINC00415, long intergenic non-protein coding RNA 415 (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00415 transcript	NR_146971.1:n.	N/A	Downstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(C)₇=	delCCC	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄	ins(C)₉	ins(C)₁₀	ins(C)₁₁	ins(C)₁₂	ins(C)₁₃	ins(C)₁₄	ins(C)₁₅	ins(C)₁₉	ins(C)₂₀	ins(C)₂₂
GRCh38.p14 chr 13	NC_000013.11:g.26052089_26052095=	NC_000013.11:g.26052093_26052095del	NC_000013.11:g.26052094_26052095del	NC_000013.11:g.26052095del	NC_000013.11:g.26052095dup	NC_000013.11:g.26052094_26052095dup	NC_000013.11:g.26052093_26052095dup	NC_000013.11:g.26052092_26052095dup	NC_000013.11:g.26052095_26052096insCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCCC	NC_000013.11:g.26052095_26052096insCCCCCCCCCCCCCCCCCCCCCC
GRCh37.p13 chr 13	NC_000013.10:g.26626227_26626233=	NC_000013.10:g.26626231_26626233del	NC_000013.10:g.26626232_26626233del	NC_000013.10:g.26626233del	NC_000013.10:g.26626233dup	NC_000013.10:g.26626232_26626233dup	NC_000013.10:g.26626231_26626233dup	NC_000013.10:g.26626230_26626233dup	NC_000013.10:g.26626233_26626234insCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCCC	NC_000013.10:g.26626233_26626234insCCCCCCCCCCCCCCCCCCCCCC

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#.

52 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss1372934174	Aug 21, 2014 (142)
2	EVA_GENOME_DK	ss1574610257	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1707717292	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1707717384	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1710593085	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1710593143	Apr 01, 2015 (144)
7	JJLAB	ss2031172663	Sep 14, 2016 (149)
8	SYSTEMSBIOZJU	ss2628259159	Nov 08, 2017 (151)
9	SWEGEN	ss3010742078	Nov 08, 2017 (151)
10	MCHAISSO	ss3063757159	Nov 08, 2017 (151)
11	MCHAISSO	ss3064587990	Nov 08, 2017 (151)
12	MCHAISSO	ss3065511281	Nov 08, 2017 (151)
13	BEROUKHIMLAB	ss3644354837	Oct 12, 2018 (152)
14	BIOINF_KMB_FNS_UNIBA	ss3645291191	Oct 12, 2018 (152)
15	URBANLAB	ss3649991249	Oct 12, 2018 (152)
16	EGCUT_WGS	ss3678003452	Jul 13, 2019 (153)
17	EVA_DECODE	ss3694951249	Jul 13, 2019 (153)
18	EVA_DECODE	ss3694951250	Jul 13, 2019 (153)
19	EVA_DECODE	ss3694951251	Jul 13, 2019 (153)
20	ACPOP	ss3739594090	Jul 13, 2019 (153)
21	PACBIO	ss3787408088	Jul 13, 2019 (153)
22	PACBIO	ss3792481538	Jul 13, 2019 (153)
23	PACBIO	ss3797365252	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3816582653	Jul 13, 2019 (153)
25	EVA	ss3840304103	Apr 27, 2020 (154)
26	EVA	ss3845788684	Apr 27, 2020 (154)
27	GNOMAD	ss4262934764	Apr 26, 2021 (155)
28	GNOMAD	ss4262934765	Apr 26, 2021 (155)
29	GNOMAD	ss4262934766	Apr 26, 2021 (155)
30	GNOMAD	ss4262934767	Apr 26, 2021 (155)
31	GNOMAD	ss4262934768	Apr 26, 2021 (155)
32	GNOMAD	ss4262934769	Apr 26, 2021 (155)
33	GNOMAD	ss4262934770	Apr 26, 2021 (155)
34	GNOMAD	ss4262934771	Apr 26, 2021 (155)
35	GNOMAD	ss4262934772	Apr 26, 2021 (155)
36	GNOMAD	ss4262934773	Apr 26, 2021 (155)
37	GNOMAD	ss4262934774	Apr 26, 2021 (155)
38	GNOMAD	ss4262934775	Apr 26, 2021 (155)
39	GNOMAD	ss4262934776	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5209232905	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5209232906	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5293140528	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5293140529	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5293140530	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5487562167	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5487562168	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5760889703	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5760889704	Oct 16, 2022 (156)
49	EVA	ss5839239422	Oct 16, 2022 (156)
50	EVA	ss5850653555	Oct 16, 2022 (156)
51	EVA	ss5924419163	Oct 16, 2022 (156)
52	EVA	ss5980780797	Oct 16, 2022 (156)
53	1000Genomes	NC_000013.10 - 26626227	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33537390 (NC_000013.10:26626226:C: 1091/3854) Row 33537391 (NC_000013.10:26626226::CCCC 107/3854)	-	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33537390 (NC_000013.10:26626226:C: 1091/3854) Row 33537391 (NC_000013.10:26626226::CCCC 107/3854)	-	Oct 12, 2018 (152)
56	Genetic variation in the Estonian population	NC_000013.10 - 26626227	Oct 12, 2018 (152)
57	The Danish reference pan genome	NC_000013.10 - 26626227	Apr 27, 2020 (154)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425847696 (NC_000013.11:26052088::C 1727/137058) Row 425847697 (NC_000013.11:26052088::CC 16/137188) Row 425847698 (NC_000013.11:26052088::CCC 1/137204)...	-	Apr 26, 2021 (155)
72	Northern Sweden	NC_000013.10 - 26626227	Jul 13, 2019 (153)
73	8.3KJPN Submission ignored due to conflicting rows: Row 67202212 (NC_000013.10:26626226:C: 10822/16744) Row 67202213 (NC_000013.10:26626226::C 42/16744)	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 67202212 (NC_000013.10:26626226:C: 10822/16744) Row 67202213 (NC_000013.10:26626226::C 42/16744)	-	Apr 26, 2021 (155)
75	14KJPN Submission ignored due to conflicting rows: Row 94726807 (NC_000013.11:26052088:C: 18241/28246) Row 94726808 (NC_000013.11:26052088::C 74/28246)	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 94726807 (NC_000013.11:26052088:C: 18241/28246) Row 94726808 (NC_000013.11:26052088::C 74/28246)	-	Oct 16, 2022 (156)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33537390 (NC_000013.10:26626226:C: 1069/3708) Row 33537391 (NC_000013.10:26626226::CCCC 73/3708)	-	Oct 12, 2018 (152)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33537390 (NC_000013.10:26626226:C: 1069/3708) Row 33537391 (NC_000013.10:26626226::CCCC 73/3708)	-	Oct 12, 2018 (152)
79	ALFA	NC_000013.11 - 26052089	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
9399942393	NC_000013.11:26052088:CCCCCCC:CCCC	NC_000013.11:26052088:CCCCCCC:CCCC	(self)
ss3694951251	NC_000013.11:26052088:CC:	NC_000013.11:26052088:CCCCCCC:CCCCC	(self)
9399942393	NC_000013.11:26052088:CCCCCCC:CCCCC	NC_000013.11:26052088:CCCCCCC:CCCCC	(self)
60388872, 23741700, 394001, 12878955, ss1372934174, ss1574610257, ss1707717292, ss1707717384, ss2031172663, ss2628259159, ss3010742078, ss3644354837, ss3678003452, ss3739594090, ss3787408088, ss3792481538, ss3797365252, ss3840304103, ss5209232905, ss5839239422, ss5980780797	NC_000013.10:26626226:C:	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCC	(self)
ss3063757159, ss3064587990, ss3065511281, ss3645291191, ss3649991249, ss3816582653, ss3845788684, ss5293140528, ss5487562167, ss5760889703, ss5850653555, ss5924419163	NC_000013.11:26052088:C:	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCC	(self)
9399942393	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCC	(self)
ss3694951250	NC_000013.11:26052089:C:	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCC	(self)
ss5209232906	NC_000013.10:26626226::C	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCC	(self)
ss4262934764, ss5293140529, ss5487562168, ss5760889704	NC_000013.11:26052088::C	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCC	(self)
9399942393	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCC	(self)
ss4262934765, ss5293140530	NC_000013.11:26052088::CC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCC	(self)
9399942393	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCC	(self)
ss4262934766	NC_000013.11:26052088::CCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCC	(self)
9399942393	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCC	(self)
	NC_000013.10:26626226::CCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCC	(self)
ss1710593085, ss1710593143	NC_000013.10:26626227::CCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCC	(self)
ss3694951249	NC_000013.11:26052090::CCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCC	(self)
ss4262934767	NC_000013.11:26052088::CCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCC	(self)
ss4262934768	NC_000013.11:26052088::CCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCC	(self)
ss4262934769	NC_000013.11:26052088::CCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCC	(self)
ss4262934770	NC_000013.11:26052088::CCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCC	(self)
ss4262934771	NC_000013.11:26052088::CCCCCCCCCCC… NC_000013.11:26052088::CCCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCC	(self)
ss4262934772	NC_000013.11:26052088::CCCCCCCCCCC… NC_000013.11:26052088::CCCCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCC	(self)
ss4262934773	NC_000013.11:26052088::CCCCCCCCCCC… NC_000013.11:26052088::CCCCCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCC	(self)
ss4262934774	NC_000013.11:26052088::CCCCCCCCCCC… NC_000013.11:26052088::CCCCCCCCCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC	(self)
ss4262934775	NC_000013.11:26052088::CCCCCCCCCCC… NC_000013.11:26052088::CCCCCCCCCCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC	(self)
ss4262934776	NC_000013.11:26052088::CCCCCCCCCCC… NC_000013.11:26052088::CCCCCCCCCCCCCCCCCCCCCC	NC_000013.11:26052088:CCCCCCC:CCCC… NC_000013.11:26052088:CCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC	(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 rs542144842

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

rs542144842