Name: rs10590789
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.

rs10590789

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:68813530-68813552 (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(A)₁₃ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₃=0.3858 (1932/5008, 1000G)
del(A)₁₃=0.000 (0/156, ALFA)
del(A)₁₂=0.000 (0/156, ALFA) (+ 14 more)
del(A)₁₁=0.000 (0/156, ALFA)
del(A)₁₀=0.000 (0/156, ALFA)
del(A)₉=0.000 (0/156, ALFA)
del(A)₈=0.000 (0/156, ALFA)
del(A)₇=0.000 (0/156, ALFA)
del(A)₆=0.000 (0/156, ALFA)
del(A)₄=0.000 (0/156, ALFA)
delAAA=0.000 (0/156, ALFA)
delAA=0.000 (0/156, ALFA)
delA=0.000 (0/156, ALFA)
dupA=0.000 (0/156, ALFA)
dupAA=0.000 (0/156, ALFA)
dupAAA=0.000 (0/156, ALFA)
dup(A)₄=0.000 (0/156, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CPT1A : 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	156	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	28	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	116	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	112	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	6	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	4	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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
1000Genomes	Global	Study-wide	5008	(A)₂₃=0.3858	delAA=0.6142
1000Genomes	African	Sub	1322	(A)₂₃=0.5371	delAA=0.4629
1000Genomes	East Asian	Sub	1008	(A)₂₃=0.2272	delAA=0.7728
1000Genomes	Europe	Sub	1006	(A)₂₃=0.3936	delAA=0.6064
1000Genomes	South Asian	Sub	978	(A)₂₃=0.226	delAA=0.774
1000Genomes	American	Sub	694	(A)₂₃=0.542	delAA=0.458
Allele Frequency Aggregator	Total	Global	156	(A)₂₃=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	African	Sub	116	(A)₂₃=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	European	Sub	28	(A)₂₃=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 2	Sub	6	(A)₂₃=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Other	Sub	4	(A)₂₃=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₃=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₃=0	del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₃=0	del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 11	NC_000011.10:g.68813540_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813541_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813542_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813543_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813544_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813545_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813546_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813547_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813548_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813549_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813550_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813551_68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813552del
GRCh38.p14 chr 11	NC_000011.10:g.68813552dup
GRCh38.p14 chr 11	NC_000011.10:g.68813551_68813552dup
GRCh38.p14 chr 11	NC_000011.10:g.68813550_68813552dup
GRCh38.p14 chr 11	NC_000011.10:g.68813549_68813552dup
GRCh37.p13 chr 11	NC_000011.9:g.68581008_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581009_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581010_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581011_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581012_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581013_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581014_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581015_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581016_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581017_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581018_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581019_68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581020del
GRCh37.p13 chr 11	NC_000011.9:g.68581020dup
GRCh37.p13 chr 11	NC_000011.9:g.68581019_68581020dup
GRCh37.p13 chr 11	NC_000011.9:g.68581018_68581020dup
GRCh37.p13 chr 11	NC_000011.9:g.68581017_68581020dup
CPT1A RefSeqGene	NG_011801.1:g.33390_33402del
CPT1A RefSeqGene	NG_011801.1:g.33391_33402del
CPT1A RefSeqGene	NG_011801.1:g.33392_33402del
CPT1A RefSeqGene	NG_011801.1:g.33393_33402del
CPT1A RefSeqGene	NG_011801.1:g.33394_33402del
CPT1A RefSeqGene	NG_011801.1:g.33395_33402del
CPT1A RefSeqGene	NG_011801.1:g.33396_33402del
CPT1A RefSeqGene	NG_011801.1:g.33397_33402del
CPT1A RefSeqGene	NG_011801.1:g.33398_33402del
CPT1A RefSeqGene	NG_011801.1:g.33399_33402del
CPT1A RefSeqGene	NG_011801.1:g.33400_33402del
CPT1A RefSeqGene	NG_011801.1:g.33401_33402del
CPT1A RefSeqGene	NG_011801.1:g.33402del
CPT1A RefSeqGene	NG_011801.1:g.33402dup
CPT1A RefSeqGene	NG_011801.1:g.33401_33402dup
CPT1A RefSeqGene	NG_011801.1:g.33400_33402dup
CPT1A RefSeqGene	NG_011801.1:g.33399_33402dup

Gene: CPT1A, carnitine palmitoyltransferase 1A (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CPT1A transcript variant 2	NM_001031847.3:c.142-966_… NM_001031847.3:c.142-966_142-954del	N/A	Intron Variant
CPT1A transcript variant 1	NM_001876.4:c.142-966_142… NM_001876.4:c.142-966_142-954del	N/A	Intron Variant
CPT1A transcript variant X3	XM_017017220.2:c.142-966_… XM_017017220.2:c.142-966_142-954del	N/A	Intron Variant
CPT1A transcript variant X1	XM_047426376.1:c.238-966_… XM_047426376.1:c.238-966_238-954del	N/A	Intron Variant
CPT1A transcript variant X2	XM_047426377.1:c.238-966_… XM_047426377.1:c.238-966_238-954del	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)₂₃=	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 11	NC_000011.10:g.68813530_68813552=	NC_000011.10:g.68813540_68813552del	NC_000011.10:g.68813541_68813552del	NC_000011.10:g.68813542_68813552del	NC_000011.10:g.68813543_68813552del	NC_000011.10:g.68813544_68813552del	NC_000011.10:g.68813545_68813552del	NC_000011.10:g.68813546_68813552del	NC_000011.10:g.68813547_68813552del	NC_000011.10:g.68813548_68813552del	NC_000011.10:g.68813549_68813552del	NC_000011.10:g.68813550_68813552del	NC_000011.10:g.68813551_68813552del	NC_000011.10:g.68813552del	NC_000011.10:g.68813552dup	NC_000011.10:g.68813551_68813552dup	NC_000011.10:g.68813550_68813552dup	NC_000011.10:g.68813549_68813552dup
GRCh37.p13 chr 11	NC_000011.9:g.68580998_68581020=	NC_000011.9:g.68581008_68581020del	NC_000011.9:g.68581009_68581020del	NC_000011.9:g.68581010_68581020del	NC_000011.9:g.68581011_68581020del	NC_000011.9:g.68581012_68581020del	NC_000011.9:g.68581013_68581020del	NC_000011.9:g.68581014_68581020del	NC_000011.9:g.68581015_68581020del	NC_000011.9:g.68581016_68581020del	NC_000011.9:g.68581017_68581020del	NC_000011.9:g.68581018_68581020del	NC_000011.9:g.68581019_68581020del	NC_000011.9:g.68581020del	NC_000011.9:g.68581020dup	NC_000011.9:g.68581019_68581020dup	NC_000011.9:g.68581018_68581020dup	NC_000011.9:g.68581017_68581020dup
CPT1A RefSeqGene	NG_011801.1:g.33380_33402=	NG_011801.1:g.33390_33402del	NG_011801.1:g.33391_33402del	NG_011801.1:g.33392_33402del	NG_011801.1:g.33393_33402del	NG_011801.1:g.33394_33402del	NG_011801.1:g.33395_33402del	NG_011801.1:g.33396_33402del	NG_011801.1:g.33397_33402del	NG_011801.1:g.33398_33402del	NG_011801.1:g.33399_33402del	NG_011801.1:g.33400_33402del	NG_011801.1:g.33401_33402del	NG_011801.1:g.33402del	NG_011801.1:g.33402dup	NG_011801.1:g.33401_33402dup	NG_011801.1:g.33400_33402dup	NG_011801.1:g.33399_33402dup
CPT1A transcript variant 2	NM_001031847.2:c.142-954=	NM_001031847.2:c.142-966_142-954del	NM_001031847.2:c.142-965_142-954del	NM_001031847.2:c.142-964_142-954del	NM_001031847.2:c.142-963_142-954del	NM_001031847.2:c.142-962_142-954del	NM_001031847.2:c.142-961_142-954del	NM_001031847.2:c.142-960_142-954del	NM_001031847.2:c.142-959_142-954del	NM_001031847.2:c.142-958_142-954del	NM_001031847.2:c.142-957_142-954del	NM_001031847.2:c.142-956_142-954del	NM_001031847.2:c.142-955_142-954del	NM_001031847.2:c.142-954del	NM_001031847.2:c.142-954dup	NM_001031847.2:c.142-955_142-954dup	NM_001031847.2:c.142-956_142-954dup	NM_001031847.2:c.142-957_142-954dup
CPT1A transcript variant 2	NM_001031847.3:c.142-954=	NM_001031847.3:c.142-966_142-954del	NM_001031847.3:c.142-965_142-954del	NM_001031847.3:c.142-964_142-954del	NM_001031847.3:c.142-963_142-954del	NM_001031847.3:c.142-962_142-954del	NM_001031847.3:c.142-961_142-954del	NM_001031847.3:c.142-960_142-954del	NM_001031847.3:c.142-959_142-954del	NM_001031847.3:c.142-958_142-954del	NM_001031847.3:c.142-957_142-954del	NM_001031847.3:c.142-956_142-954del	NM_001031847.3:c.142-955_142-954del	NM_001031847.3:c.142-954del	NM_001031847.3:c.142-954dup	NM_001031847.3:c.142-955_142-954dup	NM_001031847.3:c.142-956_142-954dup	NM_001031847.3:c.142-957_142-954dup
CPT1A transcript variant 1	NM_001876.3:c.142-954=	NM_001876.3:c.142-966_142-954del	NM_001876.3:c.142-965_142-954del	NM_001876.3:c.142-964_142-954del	NM_001876.3:c.142-963_142-954del	NM_001876.3:c.142-962_142-954del	NM_001876.3:c.142-961_142-954del	NM_001876.3:c.142-960_142-954del	NM_001876.3:c.142-959_142-954del	NM_001876.3:c.142-958_142-954del	NM_001876.3:c.142-957_142-954del	NM_001876.3:c.142-956_142-954del	NM_001876.3:c.142-955_142-954del	NM_001876.3:c.142-954del	NM_001876.3:c.142-954dup	NM_001876.3:c.142-955_142-954dup	NM_001876.3:c.142-956_142-954dup	NM_001876.3:c.142-957_142-954dup
CPT1A transcript variant 1	NM_001876.4:c.142-954=	NM_001876.4:c.142-966_142-954del	NM_001876.4:c.142-965_142-954del	NM_001876.4:c.142-964_142-954del	NM_001876.4:c.142-963_142-954del	NM_001876.4:c.142-962_142-954del	NM_001876.4:c.142-961_142-954del	NM_001876.4:c.142-960_142-954del	NM_001876.4:c.142-959_142-954del	NM_001876.4:c.142-958_142-954del	NM_001876.4:c.142-957_142-954del	NM_001876.4:c.142-956_142-954del	NM_001876.4:c.142-955_142-954del	NM_001876.4:c.142-954del	NM_001876.4:c.142-954dup	NM_001876.4:c.142-955_142-954dup	NM_001876.4:c.142-956_142-954dup	NM_001876.4:c.142-957_142-954dup
CPT1A transcript variant X1	XM_005273762.1:c.238-954=	XM_005273762.1:c.238-966_238-954del	XM_005273762.1:c.238-965_238-954del	XM_005273762.1:c.238-964_238-954del	XM_005273762.1:c.238-963_238-954del	XM_005273762.1:c.238-962_238-954del	XM_005273762.1:c.238-961_238-954del	XM_005273762.1:c.238-960_238-954del	XM_005273762.1:c.238-959_238-954del	XM_005273762.1:c.238-958_238-954del	XM_005273762.1:c.238-957_238-954del	XM_005273762.1:c.238-956_238-954del	XM_005273762.1:c.238-955_238-954del	XM_005273762.1:c.238-954del	XM_005273762.1:c.238-954dup	XM_005273762.1:c.238-955_238-954dup	XM_005273762.1:c.238-956_238-954dup	XM_005273762.1:c.238-957_238-954dup
CPT1A transcript variant X2	XM_005273763.1:c.238-954=	XM_005273763.1:c.238-966_238-954del	XM_005273763.1:c.238-965_238-954del	XM_005273763.1:c.238-964_238-954del	XM_005273763.1:c.238-963_238-954del	XM_005273763.1:c.238-962_238-954del	XM_005273763.1:c.238-961_238-954del	XM_005273763.1:c.238-960_238-954del	XM_005273763.1:c.238-959_238-954del	XM_005273763.1:c.238-958_238-954del	XM_005273763.1:c.238-957_238-954del	XM_005273763.1:c.238-956_238-954del	XM_005273763.1:c.238-955_238-954del	XM_005273763.1:c.238-954del	XM_005273763.1:c.238-954dup	XM_005273763.1:c.238-955_238-954dup	XM_005273763.1:c.238-956_238-954dup	XM_005273763.1:c.238-957_238-954dup
CPT1A transcript variant X3	XM_005273764.1:c.142-954=	XM_005273764.1:c.142-966_142-954del	XM_005273764.1:c.142-965_142-954del	XM_005273764.1:c.142-964_142-954del	XM_005273764.1:c.142-963_142-954del	XM_005273764.1:c.142-962_142-954del	XM_005273764.1:c.142-961_142-954del	XM_005273764.1:c.142-960_142-954del	XM_005273764.1:c.142-959_142-954del	XM_005273764.1:c.142-958_142-954del	XM_005273764.1:c.142-957_142-954del	XM_005273764.1:c.142-956_142-954del	XM_005273764.1:c.142-955_142-954del	XM_005273764.1:c.142-954del	XM_005273764.1:c.142-954dup	XM_005273764.1:c.142-955_142-954dup	XM_005273764.1:c.142-956_142-954dup	XM_005273764.1:c.142-957_142-954dup
CPT1A transcript variant X3	XM_017017220.2:c.142-954=	XM_017017220.2:c.142-966_142-954del	XM_017017220.2:c.142-965_142-954del	XM_017017220.2:c.142-964_142-954del	XM_017017220.2:c.142-963_142-954del	XM_017017220.2:c.142-962_142-954del	XM_017017220.2:c.142-961_142-954del	XM_017017220.2:c.142-960_142-954del	XM_017017220.2:c.142-959_142-954del	XM_017017220.2:c.142-958_142-954del	XM_017017220.2:c.142-957_142-954del	XM_017017220.2:c.142-956_142-954del	XM_017017220.2:c.142-955_142-954del	XM_017017220.2:c.142-954del	XM_017017220.2:c.142-954dup	XM_017017220.2:c.142-955_142-954dup	XM_017017220.2:c.142-956_142-954dup	XM_017017220.2:c.142-957_142-954dup
CPT1A transcript variant X1	XM_047426376.1:c.238-954=	XM_047426376.1:c.238-966_238-954del	XM_047426376.1:c.238-965_238-954del	XM_047426376.1:c.238-964_238-954del	XM_047426376.1:c.238-963_238-954del	XM_047426376.1:c.238-962_238-954del	XM_047426376.1:c.238-961_238-954del	XM_047426376.1:c.238-960_238-954del	XM_047426376.1:c.238-959_238-954del	XM_047426376.1:c.238-958_238-954del	XM_047426376.1:c.238-957_238-954del	XM_047426376.1:c.238-956_238-954del	XM_047426376.1:c.238-955_238-954del	XM_047426376.1:c.238-954del	XM_047426376.1:c.238-954dup	XM_047426376.1:c.238-955_238-954dup	XM_047426376.1:c.238-956_238-954dup	XM_047426376.1:c.238-957_238-954dup
CPT1A transcript variant X2	XM_047426377.1:c.238-954=	XM_047426377.1:c.238-966_238-954del	XM_047426377.1:c.238-965_238-954del	XM_047426377.1:c.238-964_238-954del	XM_047426377.1:c.238-963_238-954del	XM_047426377.1:c.238-962_238-954del	XM_047426377.1:c.238-961_238-954del	XM_047426377.1:c.238-960_238-954del	XM_047426377.1:c.238-959_238-954del	XM_047426377.1:c.238-958_238-954del	XM_047426377.1:c.238-957_238-954del	XM_047426377.1:c.238-956_238-954del	XM_047426377.1:c.238-955_238-954del	XM_047426377.1:c.238-954del	XM_047426377.1:c.238-954dup	XM_047426377.1:c.238-955_238-954dup	XM_047426377.1:c.238-956_238-954dup	XM_047426377.1:c.238-957_238-954dup

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, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40043111	Mar 14, 2006 (137)
2	HUMANGENOME_JCVI	ss95571775	Feb 13, 2009 (137)
3	PJP	ss294708147	May 09, 2011 (134)
4	PJP	ss294708148	May 09, 2011 (137)
5	1000GENOMES	ss1371072718	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1707143838	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1707143903	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710519076	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710519113	Apr 01, 2015 (144)
10	SWEGEN	ss3008281250	Nov 08, 2017 (151)
11	EVA_DECODE	ss3692003924	Jul 13, 2019 (153)
12	EVA_DECODE	ss3692003925	Jul 13, 2019 (153)
13	EVA_DECODE	ss3692003926	Jul 13, 2019 (153)
14	EVA_DECODE	ss3692003927	Jul 13, 2019 (153)
15	PACBIO	ss3786982956	Jul 13, 2019 (153)
16	PACBIO	ss3792119368	Jul 13, 2019 (153)
17	PACBIO	ss3797001708	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3814772040	Jul 13, 2019 (153)
19	EVA	ss3832681991	Apr 26, 2020 (154)
20	GNOMAD	ss4237054448	Apr 26, 2021 (155)
21	GNOMAD	ss4237054449	Apr 26, 2021 (155)
22	GNOMAD	ss4237054450	Apr 26, 2021 (155)
23	GNOMAD	ss4237054451	Apr 26, 2021 (155)
24	GNOMAD	ss4237054452	Apr 26, 2021 (155)
25	GNOMAD	ss4237054453	Apr 26, 2021 (155)
26	GNOMAD	ss4237054454	Apr 26, 2021 (155)
27	GNOMAD	ss4237054455	Apr 26, 2021 (155)
28	GNOMAD	ss4237054456	Apr 26, 2021 (155)
29	GNOMAD	ss4237054457	Apr 26, 2021 (155)
30	GNOMAD	ss4237054458	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5202505882	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5202505883	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5202505884	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5287817888	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5287817889	Oct 17, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5287817890	Oct 17, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5287817891	Oct 17, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5287817892	Oct 17, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5287817893	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5482943685	Oct 17, 2022 (156)
41	HUGCELL_USP	ss5482943686	Oct 17, 2022 (156)
42	HUGCELL_USP	ss5482943687	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5750550953	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5750550954	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5750550955	Oct 17, 2022 (156)
46	TOMMO_GENOMICS	ss5750550956	Oct 17, 2022 (156)
47	1000Genomes	NC_000011.9 - 68580998	Oct 12, 2018 (152)
48	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30123493 (NC_000011.9:68580998:A: 2467/3854) Row 30123494 (NC_000011.9:68580997:AAA: 1359/3854)	-	Oct 12, 2018 (152)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30123493 (NC_000011.9:68580998:A: 2467/3854) Row 30123494 (NC_000011.9:68580997:AAA: 1359/3854)	-	Oct 12, 2018 (152)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 383051455 (NC_000011.10:68813529::A 1114/73546) Row 383051456 (NC_000011.10:68813529::AA 36/73594) Row 383051457 (NC_000011.10:68813529::AAA 2/73594)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 60475189 (NC_000011.9:68580997:A: 5212/16176) Row 60475190 (NC_000011.9:68580997:AA: 6803/16176) Row 60475191 (NC_000011.9:68580997:AAA: 147/16176)	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 60475189 (NC_000011.9:68580997:A: 5212/16176) Row 60475190 (NC_000011.9:68580997:AA: 6803/16176) Row 60475191 (NC_000011.9:68580997:AAA: 147/16176)	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 60475189 (NC_000011.9:68580997:A: 5212/16176) Row 60475190 (NC_000011.9:68580997:AA: 6803/16176) Row 60475191 (NC_000011.9:68580997:AAA: 147/16176)	-	Apr 26, 2021 (155)
65	14KJPN Submission ignored due to conflicting rows: Row 84388057 (NC_000011.10:68813529:A: 8567/26752) Row 84388058 (NC_000011.10:68813529:AAA: 264/26752) Row 84388059 (NC_000011.10:68813529:AA: 11757/26752)...	-	Oct 17, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 84388057 (NC_000011.10:68813529:A: 8567/26752) Row 84388058 (NC_000011.10:68813529:AAA: 264/26752) Row 84388059 (NC_000011.10:68813529:AA: 11757/26752)...	-	Oct 17, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 84388057 (NC_000011.10:68813529:A: 8567/26752) Row 84388058 (NC_000011.10:68813529:AAA: 264/26752) Row 84388059 (NC_000011.10:68813529:AA: 11757/26752)...	-	Oct 17, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 84388057 (NC_000011.10:68813529:A: 8567/26752) Row 84388058 (NC_000011.10:68813529:AAA: 264/26752) Row 84388059 (NC_000011.10:68813529:AA: 11757/26752)...	-	Oct 17, 2022 (156)
69	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30123493 (NC_000011.9:68580998:A: 2380/3708) Row 30123494 (NC_000011.9:68580997:AAA: 1282/3708)	-	Oct 12, 2018 (152)
70	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30123493 (NC_000011.9:68580998:A: 2380/3708) Row 30123494 (NC_000011.9:68580997:AAA: 1282/3708)	-	Oct 12, 2018 (152)
71	ALFA	NC_000011.10 - 68813530	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)
rs34605091	May 11, 2012 (137)
rs35910731	May 23, 2006 (127)
rs71043452	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4237054458, ss5287817893	NC_000011.10:68813529:AAAAAAAAAAAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4237054457, ss5750550956	NC_000011.10:68813529:AAAAAAAAAAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4237054456, ss5287817891	NC_000011.10:68813529:AAAAAAAAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4237054455	NC_000011.10:68813529:AAAAAAAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4237054454	NC_000011.10:68813529:AAAAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3692003927, ss4237054453	NC_000011.10:68813529:AAAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1707143838, ss1707143903, ss5202505884	NC_000011.9:68580997:AAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4237054452, ss5287817892, ss5482943685, ss5750550954	NC_000011.10:68813529:AAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3692003926	NC_000011.10:68813530:AAA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss294708147	NC_000011.8:68337594:AA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
54263329, ss1371072718, ss3008281250, ss3786982956, ss3792119368, ss3797001708, ss3832681991, ss5202505883	NC_000011.9:68580997:AA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1710519076, ss1710519113	NC_000011.9:68580998:AA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3814772040, ss4237054451, ss5287817889, ss5482943686, ss5750550955	NC_000011.10:68813529:AA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3692003925	NC_000011.10:68813531:AA:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss294708148	NC_000011.8:68337595:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5202505882	NC_000011.9:68580997:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000011.9:68580998:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5287817888, ss5482943687, ss5750550953	NC_000011.10:68813529:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3692003924	NC_000011.10:68813532:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss40043111	NT_167190.1:13886792:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss95571775	NT_167190.1:13886814:A:	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4237054448, ss5287817890	NC_000011.10:68813529::A	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4237054449	NC_000011.10:68813529::AA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4237054450	NC_000011.10:68813529::AAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
123953148	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:68813529:AAAAAAAAAAAA… NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs10590789

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

rs10590789