Name: rs34999812
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.

rs34999812

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:2961502-2961517 (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
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.1039 (819/7882, ALFA)
delA=0.2194 (1099/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NAP1L4 : 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	7882	AAAAAAAAAAAAAAAA=0.8559	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0397, AAAAAAAAAAAAAAAAA=0.1039, AAAAAAAAAAAAAAAAAA=0.0005	0.831176	0.039658	0.129166	32
European	Sub	6934	AAAAAAAAAAAAAAAA=0.8366	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0451, AAAAAAAAAAAAAAAAA=0.1177, AAAAAAAAAAAAAAAAAA=0.0006	0.806779	0.045613	0.147608	32
African	Sub	646	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	32	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	614	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	10	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	8	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	40	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	112	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	28	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	112	AAAAAAAAAAAAAAAA=0.973	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.027, AAAAAAAAAAAAAAAAAA=0.000	0.946429	0.0	0.053571	0

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	7882	(A)₁₆=0.8559	delAA=0.0000, delA=0.0397, dupA=0.1039, dupAA=0.0005
Allele Frequency Aggregator	European	Sub	6934	(A)₁₆=0.8366	delAA=0.0000, delA=0.0451, dupA=0.1177, dupAA=0.0006
Allele Frequency Aggregator	African	Sub	646	(A)₁₆=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	112	(A)₁₆=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	112	(A)₁₆=0.973	delAA=0.000, delA=0.000, dupA=0.027, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	40	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	28	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	10	(A)₁₆=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
1000Genomes	Global	Study-wide	5008	(A)₁₆=0.7806	delA=0.2194
1000Genomes	African	Sub	1322	(A)₁₆=0.4781	delA=0.5219
1000Genomes	East Asian	Sub	1008	(A)₁₆=0.9544	delA=0.0456
1000Genomes	Europe	Sub	1006	(A)₁₆=0.8459	delA=0.1541
1000Genomes	South Asian	Sub	978	(A)₁₆=0.880	delA=0.120
1000Genomes	American	Sub	694	(A)₁₆=0.869	delA=0.131

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 11	NC_000011.10:g.2961515_2961517del
GRCh38.p14 chr 11	NC_000011.10:g.2961516_2961517del
GRCh38.p14 chr 11	NC_000011.10:g.2961517del
GRCh38.p14 chr 11	NC_000011.10:g.2961517dup
GRCh38.p14 chr 11	NC_000011.10:g.2961516_2961517dup
GRCh38.p14 chr 11	NC_000011.10:g.2961515_2961517dup
GRCh37.p13 chr 11	NC_000011.9:g.2982745_2982747del
GRCh37.p13 chr 11	NC_000011.9:g.2982746_2982747del
GRCh37.p13 chr 11	NC_000011.9:g.2982747del
GRCh37.p13 chr 11	NC_000011.9:g.2982747dup
GRCh37.p13 chr 11	NC_000011.9:g.2982746_2982747dup
GRCh37.p13 chr 11	NC_000011.9:g.2982745_2982747dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192567_192569del
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192568_192569del
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192569del
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192569dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192568_192569dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192567_192569dup

Gene: NAP1L4, nucleosome assembly protein 1 like 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NAP1L4 transcript variant 2	NM_001369375.1:c.607-1595… NM_001369375.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 3	NM_001369376.1:c.607-1595… NM_001369376.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 4	NM_001369377.1:c.607-1595… NM_001369377.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 5	NM_001369378.1:c.607-1595… NM_001369378.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 6	NM_001369379.1:c.607-1595… NM_001369379.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 7	NM_001369380.1:c.607-1595… NM_001369380.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 8	NM_001369381.1:c.607-1595… NM_001369381.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 9	NM_001369382.1:c.607-1595… NM_001369382.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 10	NM_001369383.1:c.607-1595… NM_001369383.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 11	NM_001369384.1:c.607-1595… NM_001369384.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 12	NM_001369385.1:c.607-1595… NM_001369385.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 13	NM_001369386.1:c.607-1595… NM_001369386.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 14	NM_001369388.1:c.607-1595… NM_001369388.1:c.607-1595_607-1593del	N/A	Intron Variant
NAP1L4 transcript variant 1	NM_005969.4:c.607-1595_60… NM_005969.4:c.607-1595_607-1593del	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	(A)₁₆=	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 11	NC_000011.10:g.2961502_2961517=	NC_000011.10:g.2961515_2961517del	NC_000011.10:g.2961516_2961517del	NC_000011.10:g.2961517del	NC_000011.10:g.2961517dup	NC_000011.10:g.2961516_2961517dup	NC_000011.10:g.2961515_2961517dup
GRCh37.p13 chr 11	NC_000011.9:g.2982732_2982747=	NC_000011.9:g.2982745_2982747del	NC_000011.9:g.2982746_2982747del	NC_000011.9:g.2982747del	NC_000011.9:g.2982747dup	NC_000011.9:g.2982746_2982747dup	NC_000011.9:g.2982745_2982747dup
GRCh38.p14 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.192553_192569=	NT_187585.1:g.192567_192569del	NT_187585.1:g.192568_192569del	NT_187585.1:g.192569del	NT_187585.1:g.192569dup	NT_187585.1:g.192568_192569dup	NT_187585.1:g.192567_192569dup
NAP1L4 transcript variant 2	NM_001369375.1:c.607-1593=	NM_001369375.1:c.607-1595_607-1593del	NM_001369375.1:c.607-1594_607-1593del	NM_001369375.1:c.607-1593del	NM_001369375.1:c.607-1593dup	NM_001369375.1:c.607-1594_607-1593dup	NM_001369375.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 3	NM_001369376.1:c.607-1593=	NM_001369376.1:c.607-1595_607-1593del	NM_001369376.1:c.607-1594_607-1593del	NM_001369376.1:c.607-1593del	NM_001369376.1:c.607-1593dup	NM_001369376.1:c.607-1594_607-1593dup	NM_001369376.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 4	NM_001369377.1:c.607-1593=	NM_001369377.1:c.607-1595_607-1593del	NM_001369377.1:c.607-1594_607-1593del	NM_001369377.1:c.607-1593del	NM_001369377.1:c.607-1593dup	NM_001369377.1:c.607-1594_607-1593dup	NM_001369377.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 5	NM_001369378.1:c.607-1593=	NM_001369378.1:c.607-1595_607-1593del	NM_001369378.1:c.607-1594_607-1593del	NM_001369378.1:c.607-1593del	NM_001369378.1:c.607-1593dup	NM_001369378.1:c.607-1594_607-1593dup	NM_001369378.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 6	NM_001369379.1:c.607-1593=	NM_001369379.1:c.607-1595_607-1593del	NM_001369379.1:c.607-1594_607-1593del	NM_001369379.1:c.607-1593del	NM_001369379.1:c.607-1593dup	NM_001369379.1:c.607-1594_607-1593dup	NM_001369379.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 7	NM_001369380.1:c.607-1593=	NM_001369380.1:c.607-1595_607-1593del	NM_001369380.1:c.607-1594_607-1593del	NM_001369380.1:c.607-1593del	NM_001369380.1:c.607-1593dup	NM_001369380.1:c.607-1594_607-1593dup	NM_001369380.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 8	NM_001369381.1:c.607-1593=	NM_001369381.1:c.607-1595_607-1593del	NM_001369381.1:c.607-1594_607-1593del	NM_001369381.1:c.607-1593del	NM_001369381.1:c.607-1593dup	NM_001369381.1:c.607-1594_607-1593dup	NM_001369381.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 9	NM_001369382.1:c.607-1593=	NM_001369382.1:c.607-1595_607-1593del	NM_001369382.1:c.607-1594_607-1593del	NM_001369382.1:c.607-1593del	NM_001369382.1:c.607-1593dup	NM_001369382.1:c.607-1594_607-1593dup	NM_001369382.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 10	NM_001369383.1:c.607-1593=	NM_001369383.1:c.607-1595_607-1593del	NM_001369383.1:c.607-1594_607-1593del	NM_001369383.1:c.607-1593del	NM_001369383.1:c.607-1593dup	NM_001369383.1:c.607-1594_607-1593dup	NM_001369383.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 11	NM_001369384.1:c.607-1593=	NM_001369384.1:c.607-1595_607-1593del	NM_001369384.1:c.607-1594_607-1593del	NM_001369384.1:c.607-1593del	NM_001369384.1:c.607-1593dup	NM_001369384.1:c.607-1594_607-1593dup	NM_001369384.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 12	NM_001369385.1:c.607-1593=	NM_001369385.1:c.607-1595_607-1593del	NM_001369385.1:c.607-1594_607-1593del	NM_001369385.1:c.607-1593del	NM_001369385.1:c.607-1593dup	NM_001369385.1:c.607-1594_607-1593dup	NM_001369385.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 13	NM_001369386.1:c.607-1593=	NM_001369386.1:c.607-1595_607-1593del	NM_001369386.1:c.607-1594_607-1593del	NM_001369386.1:c.607-1593del	NM_001369386.1:c.607-1593dup	NM_001369386.1:c.607-1594_607-1593dup	NM_001369386.1:c.607-1595_607-1593dup
NAP1L4 transcript variant 14	NM_001369388.1:c.607-1593=	NM_001369388.1:c.607-1595_607-1593del	NM_001369388.1:c.607-1594_607-1593del	NM_001369388.1:c.607-1593del	NM_001369388.1:c.607-1593dup	NM_001369388.1:c.607-1594_607-1593dup	NM_001369388.1:c.607-1595_607-1593dup
NAP1L4 transcript	NM_005969.3:c.607-1593=	NM_005969.3:c.607-1595_607-1593del	NM_005969.3:c.607-1594_607-1593del	NM_005969.3:c.607-1593del	NM_005969.3:c.607-1593dup	NM_005969.3:c.607-1594_607-1593dup	NM_005969.3:c.607-1595_607-1593dup
NAP1L4 transcript variant 1	NM_005969.4:c.607-1593=	NM_005969.4:c.607-1595_607-1593del	NM_005969.4:c.607-1594_607-1593del	NM_005969.4:c.607-1593del	NM_005969.4:c.607-1593dup	NM_005969.4:c.607-1594_607-1593dup	NM_005969.4:c.607-1595_607-1593dup
NAP1L4 transcript variant X1	XM_005252935.1:c.607-1593=	XM_005252935.1:c.607-1595_607-1593del	XM_005252935.1:c.607-1594_607-1593del	XM_005252935.1:c.607-1593del	XM_005252935.1:c.607-1593dup	XM_005252935.1:c.607-1594_607-1593dup	XM_005252935.1:c.607-1595_607-1593dup
NAP1L4 transcript variant X2	XM_005252936.1:c.607-1593=	XM_005252936.1:c.607-1595_607-1593del	XM_005252936.1:c.607-1594_607-1593del	XM_005252936.1:c.607-1593del	XM_005252936.1:c.607-1593dup	XM_005252936.1:c.607-1594_607-1593dup	XM_005252936.1:c.607-1595_607-1593dup
NAP1L4 transcript variant X3	XM_005252937.1:c.607-1593=	XM_005252937.1:c.607-1595_607-1593del	XM_005252937.1:c.607-1594_607-1593del	XM_005252937.1:c.607-1593del	XM_005252937.1:c.607-1593dup	XM_005252937.1:c.607-1594_607-1593dup	XM_005252937.1:c.607-1595_607-1593dup
NAP1L4 transcript variant X4	XM_005252938.1:c.607-1593=	XM_005252938.1:c.607-1595_607-1593del	XM_005252938.1:c.607-1594_607-1593del	XM_005252938.1:c.607-1593del	XM_005252938.1:c.607-1593dup	XM_005252938.1:c.607-1594_607-1593dup	XM_005252938.1:c.607-1595_607-1593dup

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#.

46 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss39929380	Mar 14, 2006 (126)
2	HGSV	ss77891734	Oct 12, 2018 (152)
3	HUMANGENOME_JCVI	ss95558595	Oct 12, 2018 (152)
4	BUSHMAN	ss193214795	Jul 04, 2010 (132)
5	GMI	ss289049194	May 04, 2012 (138)
6	PJP	ss294685769	May 09, 2011 (134)
7	PJP	ss294685770	May 09, 2011 (138)
8	SSMP	ss664045454	Apr 01, 2015 (144)
9	BILGI_BIOE	ss666522269	Apr 25, 2013 (138)
10	SSIP	ss947270497	Aug 21, 2014 (142)
11	1000GENOMES	ss1370428921	Aug 21, 2014 (142)
12	HAMMER_LAB	ss1806662451	Sep 08, 2015 (146)
13	SWEGEN	ss3007486073	Nov 08, 2017 (151)
14	MCHAISSO	ss3065412596	Nov 08, 2017 (151)
15	URBANLAB	ss3649515191	Oct 12, 2018 (152)
16	EVA_DECODE	ss3691089937	Jul 13, 2019 (153)
17	EVA_DECODE	ss3691089938	Jul 13, 2019 (153)
18	EVA_DECODE	ss3691089939	Jul 13, 2019 (153)
19	PACBIO	ss3786844959	Jul 13, 2019 (153)
20	PACBIO	ss3792001171	Jul 13, 2019 (153)
21	PACBIO	ss3796883346	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3814210193	Jul 13, 2019 (153)
23	EVA	ss3832440795	Apr 26, 2020 (154)
24	EVA	ss3839762834	Apr 26, 2020 (154)
25	EVA	ss3845238725	Apr 26, 2020 (154)
26	VINODS	ss4029433224	Apr 26, 2021 (155)
27	GNOMAD	ss4229002822	Apr 26, 2021 (155)
28	GNOMAD	ss4229002823	Apr 26, 2021 (155)
29	GNOMAD	ss4229002824	Apr 26, 2021 (155)
30	GNOMAD	ss4229002825	Apr 26, 2021 (155)
31	GNOMAD	ss4229002826	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5200397758	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5200397759	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5200397760	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5286176413	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5286176414	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5286176415	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5286176416	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5481515575	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5481515576	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5481515577	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5747072093	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5747072094	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5747072095	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5747072096	Oct 16, 2022 (156)
46	EVA	ss5849830451	Oct 16, 2022 (156)
47	1000Genomes	NC_000011.9 - 2982732	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369584033 (NC_000011.10:2961501::A 33455/127512) Row 369584034 (NC_000011.10:2961501::AA 336/127632) Row 369584035 (NC_000011.10:2961501::AAA 3/127664)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369584033 (NC_000011.10:2961501::A 33455/127512) Row 369584034 (NC_000011.10:2961501::AA 336/127632) Row 369584035 (NC_000011.10:2961501::AAA 3/127664)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369584033 (NC_000011.10:2961501::A 33455/127512) Row 369584034 (NC_000011.10:2961501::AA 336/127632) Row 369584035 (NC_000011.10:2961501::AAA 3/127664)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369584033 (NC_000011.10:2961501::A 33455/127512) Row 369584034 (NC_000011.10:2961501::AA 336/127632) Row 369584035 (NC_000011.10:2961501::AAA 3/127664)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369584033 (NC_000011.10:2961501::A 33455/127512) Row 369584034 (NC_000011.10:2961501::AA 336/127632) Row 369584035 (NC_000011.10:2961501::AAA 3/127664)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 369584033 (NC_000011.10:2961501::A 33455/127512) Row 369584034 (NC_000011.10:2961501::AA 336/127632) Row 369584035 (NC_000011.10:2961501::AAA 3/127664)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 58367065 (NC_000011.9:2982731::A 10920/16692) Row 58367066 (NC_000011.9:2982731:A: 55/16692) Row 58367067 (NC_000011.9:2982731::AA 50/16692)	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 58367065 (NC_000011.9:2982731::A 10920/16692) Row 58367066 (NC_000011.9:2982731:A: 55/16692) Row 58367067 (NC_000011.9:2982731::AA 50/16692)	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 58367065 (NC_000011.9:2982731::A 10920/16692) Row 58367066 (NC_000011.9:2982731:A: 55/16692) Row 58367067 (NC_000011.9:2982731::AA 50/16692)	-	Apr 26, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 80909197 (NC_000011.10:2961501::A 18495/28240) Row 80909198 (NC_000011.10:2961501:A: 84/28240) Row 80909199 (NC_000011.10:2961501::AA 75/28240)...	-	Oct 16, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 80909197 (NC_000011.10:2961501::A 18495/28240) Row 80909198 (NC_000011.10:2961501:A: 84/28240) Row 80909199 (NC_000011.10:2961501::AA 75/28240)...	-	Oct 16, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 80909197 (NC_000011.10:2961501::A 18495/28240) Row 80909198 (NC_000011.10:2961501:A: 84/28240) Row 80909199 (NC_000011.10:2961501::AA 75/28240)...	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 80909197 (NC_000011.10:2961501::A 18495/28240) Row 80909198 (NC_000011.10:2961501:A: 84/28240) Row 80909199 (NC_000011.10:2961501::AA 75/28240)...	-	Oct 16, 2022 (156)
61	ALFA	NC_000011.10 - 2961502	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)
rs55750625	May 15, 2013 (138)
rs139854193	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4229002826	NC_000011.10:2961501:AAA:	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4229002825, ss5286176416, ss5747072096	NC_000011.10:2961501:AA:	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
7719018801	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
52336221, ss1370428921, ss1806662451, ss3007486073, ss3832440795, ss5200397759	NC_000011.9:2982731:A:	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3065412596, ss3691089939, ss3814210193, ss5286176414, ss5481515577, ss5747072094	NC_000011.10:2961501:A:	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7719018801	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193214795	NT_009237.18:2922731:A:	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss294685769	NC_000011.8:2939308::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss289049194, ss294685770	NC_000011.8:2939323::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss664045454, ss666522269, ss3786844959, ss3792001171, ss3796883346, ss3839762834, ss5200397758	NC_000011.9:2982731::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss947270497	NC_000011.9:2982732::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3649515191, ss3845238725, ss4229002822, ss5286176413, ss5481515575, ss5747072093, ss5849830451	NC_000011.10:2961501::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7719018801	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3691089938	NC_000011.10:2961502::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss39929380	NT_009237.18:2922731::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss77891734, ss95558595	NT_009237.18:2922747::A	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5200397760	NC_000011.9:2982731::AA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4229002823, ss5286176415, ss5481515576, ss5747072095	NC_000011.10:2961501::AA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7719018801	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3691089937	NC_000011.10:2961502::AA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4229002824	NC_000011.10:2961501::AAA	NC_000011.10:2961501:AAAAAAAAAAAAA… NC_000011.10:2961501:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(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 rs34999812

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

rs34999812