Name: rs10602340
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.

rs10602340

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:17995206-17995221 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅ / ins(T)₃₁
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.03382 (386/11412, ALFA)
delT=0.3944 (1975/5008, 1000G)
delT=0.081 (48/596, NorthernSweden) (+ 2 more)
(T)₁₆=0.50 (20/40, GENOME_DK)
delT=0.50 (20/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LCORL : 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	11412	TTTTTTTTTTTTTTTT=0.96583	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00009, TTTTTTTTTTTTTTT=0.03382, TTTTTTTTTTTTTTTTT=0.00026, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.935637	0.003332	0.061031	14
European	Sub	9646	TTTTTTTTTTTTTTTT=0.9596	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0001, TTTTTTTTTTTTTTT=0.0400, TTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000	0.923843	0.003943	0.072214	10
African	Sub	870	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	28	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	842	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	80	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	62	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	80	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	420	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	254	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	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
Allele Frequency Aggregator	Total	Global	11412	(T)₁₆=0.96583	delTTT=0.00000, delTT=0.00009, delT=0.03382, dupT=0.00026, dupTT=0.00000, dupTTT=0.00000, dup(T)₅=0.00000
Allele Frequency Aggregator	European	Sub	9646	(T)₁₆=0.9596	delTTT=0.0000, delTT=0.0001, delT=0.0400, dupT=0.0003, dupTT=0.0000, dupTTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	870	(T)₁₆=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	420	(T)₁₆=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	254	(T)₁₆=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	80	(T)₁₆=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	80	(T)₁₆=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(T)₁₆=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₅=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₆=0.6056	delT=0.3944
1000Genomes	African	Sub	1322	(T)₁₆=0.5159	delT=0.4841
1000Genomes	East Asian	Sub	1008	(T)₁₆=0.6468	delT=0.3532
1000Genomes	Europe	Sub	1006	(T)₁₆=0.7087	delT=0.2913
1000Genomes	South Asian	Sub	978	(T)₁₆=0.557	delT=0.443
1000Genomes	American	Sub	694	(T)₁₆=0.635	delT=0.365
Northern Sweden	ACPOP	Study-wide	596	(T)₁₆=0.919	delT=0.081
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₆=0.50	delT=0.50

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 4	NC_000004.12:g.17995219_17995221del
GRCh38.p14 chr 4	NC_000004.12:g.17995220_17995221del
GRCh38.p14 chr 4	NC_000004.12:g.17995221del
GRCh38.p14 chr 4	NC_000004.12:g.17995221dup
GRCh38.p14 chr 4	NC_000004.12:g.17995220_17995221dup
GRCh38.p14 chr 4	NC_000004.12:g.17995219_17995221dup
GRCh38.p14 chr 4	NC_000004.12:g.17995217_17995221dup
GRCh38.p14 chr 4	NC_000004.12:g.17995221_17995222insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 4	NC_000004.11:g.17996842_17996844del
GRCh37.p13 chr 4	NC_000004.11:g.17996843_17996844del
GRCh37.p13 chr 4	NC_000004.11:g.17996844del
GRCh37.p13 chr 4	NC_000004.11:g.17996844dup
GRCh37.p13 chr 4	NC_000004.11:g.17996843_17996844dup
GRCh37.p13 chr 4	NC_000004.11:g.17996842_17996844dup
GRCh37.p13 chr 4	NC_000004.11:g.17996840_17996844dup
GRCh37.p13 chr 4	NC_000004.11:g.17996844_17996845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
LCORL RefSeqGene	NG_015822.2:g.31653_31655del
LCORL RefSeqGene	NG_015822.2:g.31654_31655del
LCORL RefSeqGene	NG_015822.2:g.31655del
LCORL RefSeqGene	NG_015822.2:g.31655dup
LCORL RefSeqGene	NG_015822.2:g.31654_31655dup
LCORL RefSeqGene	NG_015822.2:g.31653_31655dup
LCORL RefSeqGene	NG_015822.2:g.31651_31655dup
LCORL RefSeqGene	NG_015822.2:g.31655_31656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: LCORL, ligand dependent nuclear receptor corepressor like (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LCORL transcript variant 1	NM_001166139.2:c.155-2232… NM_001166139.2:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 4	NM_001365658.1:c.-373-223… NM_001365658.1:c.-373-22323_-373-22321del	N/A	Intron Variant
LCORL transcript variant 5	NM_001365659.1:c.-373-223… NM_001365659.1:c.-373-22323_-373-22321del	N/A	Intron Variant
LCORL transcript variant 6	NM_001365660.1:c.155-2232… NM_001365660.1:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 7	NM_001365661.1:c.155-2232… NM_001365661.1:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 8	NM_001365662.1:c.155-2232… NM_001365662.1:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 9	NM_001365663.1:c.155-2232… NM_001365663.1:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 10	NM_001365665.1:c.155-2232… NM_001365665.1:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 17	NM_001394446.1:c.155-2232… NM_001394446.1:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 2	NM_153686.8:c.155-22323_1… NM_153686.8:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant 3	NR_136669.3:n.	N/A	Intron Variant
LCORL transcript variant 11	NR_158563.1:n.	N/A	Intron Variant
LCORL transcript variant 12	NR_158564.1:n.	N/A	Intron Variant
LCORL transcript variant 13	NR_158565.1:n.	N/A	Intron Variant
LCORL transcript variant 14	NR_158566.1:n.	N/A	Intron Variant
LCORL transcript variant 15	NR_158567.1:n.	N/A	Intron Variant
LCORL transcript variant 16	NR_158568.1:n.	N/A	Intron Variant
LCORL transcript variant X3	XM_017007965.2:c.155-2232… XM_017007965.2:c.155-22323_155-22321del	N/A	Intron Variant
LCORL transcript variant X1	XM_047449965.1:c.-98-2232… XM_047449965.1:c.-98-22323_-98-22321del	N/A	Intron Variant
LCORL transcript variant X2	XM_047449966.1:c.155-2232… XM_047449966.1:c.155-22323_155-22321del	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	(T)₁₆=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅	ins(T)₃₁
GRCh38.p14 chr 4	NC_000004.12:g.17995206_17995221=	NC_000004.12:g.17995219_17995221del	NC_000004.12:g.17995220_17995221del	NC_000004.12:g.17995221del	NC_000004.12:g.17995221dup	NC_000004.12:g.17995220_17995221dup	NC_000004.12:g.17995219_17995221dup	NC_000004.12:g.17995217_17995221dup	NC_000004.12:g.17995221_17995222insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 4	NC_000004.11:g.17996829_17996844=	NC_000004.11:g.17996842_17996844del	NC_000004.11:g.17996843_17996844del	NC_000004.11:g.17996844del	NC_000004.11:g.17996844dup	NC_000004.11:g.17996843_17996844dup	NC_000004.11:g.17996842_17996844dup	NC_000004.11:g.17996840_17996844dup	NC_000004.11:g.17996844_17996845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
LCORL RefSeqGene	NG_015822.2:g.31640_31655=	NG_015822.2:g.31653_31655del	NG_015822.2:g.31654_31655del	NG_015822.2:g.31655del	NG_015822.2:g.31655dup	NG_015822.2:g.31654_31655dup	NG_015822.2:g.31653_31655dup	NG_015822.2:g.31651_31655dup	NG_015822.2:g.31655_31656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 1	NM_001166139.1:c.155-22321=	NM_001166139.1:c.155-22323_155-22321del	NM_001166139.1:c.155-22322_155-22321del	NM_001166139.1:c.155-22321del	NM_001166139.1:c.155-22321dup	NM_001166139.1:c.155-22322_155-22321dup	NM_001166139.1:c.155-22323_155-22321dup	NM_001166139.1:c.155-22325_155-22321dup	NM_001166139.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 1	NM_001166139.2:c.155-22321=	NM_001166139.2:c.155-22323_155-22321del	NM_001166139.2:c.155-22322_155-22321del	NM_001166139.2:c.155-22321del	NM_001166139.2:c.155-22321dup	NM_001166139.2:c.155-22322_155-22321dup	NM_001166139.2:c.155-22323_155-22321dup	NM_001166139.2:c.155-22325_155-22321dup	NM_001166139.2:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 4	NM_001365658.1:c.-373-22321=	NM_001365658.1:c.-373-22323_-373-22321del	NM_001365658.1:c.-373-22322_-373-22321del	NM_001365658.1:c.-373-22321del	NM_001365658.1:c.-373-22321dup	NM_001365658.1:c.-373-22322_-373-22321dup	NM_001365658.1:c.-373-22323_-373-22321dup	NM_001365658.1:c.-373-22325_-373-22321dup	NM_001365658.1:c.-373-22321_-373-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 5	NM_001365659.1:c.-373-22321=	NM_001365659.1:c.-373-22323_-373-22321del	NM_001365659.1:c.-373-22322_-373-22321del	NM_001365659.1:c.-373-22321del	NM_001365659.1:c.-373-22321dup	NM_001365659.1:c.-373-22322_-373-22321dup	NM_001365659.1:c.-373-22323_-373-22321dup	NM_001365659.1:c.-373-22325_-373-22321dup	NM_001365659.1:c.-373-22321_-373-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 6	NM_001365660.1:c.155-22321=	NM_001365660.1:c.155-22323_155-22321del	NM_001365660.1:c.155-22322_155-22321del	NM_001365660.1:c.155-22321del	NM_001365660.1:c.155-22321dup	NM_001365660.1:c.155-22322_155-22321dup	NM_001365660.1:c.155-22323_155-22321dup	NM_001365660.1:c.155-22325_155-22321dup	NM_001365660.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 7	NM_001365661.1:c.155-22321=	NM_001365661.1:c.155-22323_155-22321del	NM_001365661.1:c.155-22322_155-22321del	NM_001365661.1:c.155-22321del	NM_001365661.1:c.155-22321dup	NM_001365661.1:c.155-22322_155-22321dup	NM_001365661.1:c.155-22323_155-22321dup	NM_001365661.1:c.155-22325_155-22321dup	NM_001365661.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 8	NM_001365662.1:c.155-22321=	NM_001365662.1:c.155-22323_155-22321del	NM_001365662.1:c.155-22322_155-22321del	NM_001365662.1:c.155-22321del	NM_001365662.1:c.155-22321dup	NM_001365662.1:c.155-22322_155-22321dup	NM_001365662.1:c.155-22323_155-22321dup	NM_001365662.1:c.155-22325_155-22321dup	NM_001365662.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 9	NM_001365663.1:c.155-22321=	NM_001365663.1:c.155-22323_155-22321del	NM_001365663.1:c.155-22322_155-22321del	NM_001365663.1:c.155-22321del	NM_001365663.1:c.155-22321dup	NM_001365663.1:c.155-22322_155-22321dup	NM_001365663.1:c.155-22323_155-22321dup	NM_001365663.1:c.155-22325_155-22321dup	NM_001365663.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 10	NM_001365665.1:c.155-22321=	NM_001365665.1:c.155-22323_155-22321del	NM_001365665.1:c.155-22322_155-22321del	NM_001365665.1:c.155-22321del	NM_001365665.1:c.155-22321dup	NM_001365665.1:c.155-22322_155-22321dup	NM_001365665.1:c.155-22323_155-22321dup	NM_001365665.1:c.155-22325_155-22321dup	NM_001365665.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 17	NM_001394446.1:c.155-22321=	NM_001394446.1:c.155-22323_155-22321del	NM_001394446.1:c.155-22322_155-22321del	NM_001394446.1:c.155-22321del	NM_001394446.1:c.155-22321dup	NM_001394446.1:c.155-22322_155-22321dup	NM_001394446.1:c.155-22323_155-22321dup	NM_001394446.1:c.155-22325_155-22321dup	NM_001394446.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 2	NM_153686.7:c.155-22321=	NM_153686.7:c.155-22323_155-22321del	NM_153686.7:c.155-22322_155-22321del	NM_153686.7:c.155-22321del	NM_153686.7:c.155-22321dup	NM_153686.7:c.155-22322_155-22321dup	NM_153686.7:c.155-22323_155-22321dup	NM_153686.7:c.155-22325_155-22321dup	NM_153686.7:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant 2	NM_153686.8:c.155-22321=	NM_153686.8:c.155-22323_155-22321del	NM_153686.8:c.155-22322_155-22321del	NM_153686.8:c.155-22321del	NM_153686.8:c.155-22321dup	NM_153686.8:c.155-22322_155-22321dup	NM_153686.8:c.155-22323_155-22321dup	NM_153686.8:c.155-22325_155-22321dup	NM_153686.8:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X2	XM_005248145.1:c.-98-22321=	XM_005248145.1:c.-98-22323_-98-22321del	XM_005248145.1:c.-98-22322_-98-22321del	XM_005248145.1:c.-98-22321del	XM_005248145.1:c.-98-22321dup	XM_005248145.1:c.-98-22322_-98-22321dup	XM_005248145.1:c.-98-22323_-98-22321dup	XM_005248145.1:c.-98-22325_-98-22321dup	XM_005248145.1:c.-98-22321_-98-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X3	XM_005248146.1:c.-27-22321=	XM_005248146.1:c.-27-22323_-27-22321del	XM_005248146.1:c.-27-22322_-27-22321del	XM_005248146.1:c.-27-22321del	XM_005248146.1:c.-27-22321dup	XM_005248146.1:c.-27-22322_-27-22321dup	XM_005248146.1:c.-27-22323_-27-22321dup	XM_005248146.1:c.-27-22325_-27-22321dup	XM_005248146.1:c.-27-22321_-27-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X4	XM_005248147.1:c.-27-22321=	XM_005248147.1:c.-27-22323_-27-22321del	XM_005248147.1:c.-27-22322_-27-22321del	XM_005248147.1:c.-27-22321del	XM_005248147.1:c.-27-22321dup	XM_005248147.1:c.-27-22322_-27-22321dup	XM_005248147.1:c.-27-22323_-27-22321dup	XM_005248147.1:c.-27-22325_-27-22321dup	XM_005248147.1:c.-27-22321_-27-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X5	XM_005248148.1:c.155-22321=	XM_005248148.1:c.155-22323_155-22321del	XM_005248148.1:c.155-22322_155-22321del	XM_005248148.1:c.155-22321del	XM_005248148.1:c.155-22321dup	XM_005248148.1:c.155-22322_155-22321dup	XM_005248148.1:c.155-22323_155-22321dup	XM_005248148.1:c.155-22325_155-22321dup	XM_005248148.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X6	XM_005248149.1:c.155-22321=	XM_005248149.1:c.155-22323_155-22321del	XM_005248149.1:c.155-22322_155-22321del	XM_005248149.1:c.155-22321del	XM_005248149.1:c.155-22321dup	XM_005248149.1:c.155-22322_155-22321dup	XM_005248149.1:c.155-22323_155-22321dup	XM_005248149.1:c.155-22325_155-22321dup	XM_005248149.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X3	XM_017007965.2:c.155-22321=	XM_017007965.2:c.155-22323_155-22321del	XM_017007965.2:c.155-22322_155-22321del	XM_017007965.2:c.155-22321del	XM_017007965.2:c.155-22321dup	XM_017007965.2:c.155-22322_155-22321dup	XM_017007965.2:c.155-22323_155-22321dup	XM_017007965.2:c.155-22325_155-22321dup	XM_017007965.2:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X1	XM_047449965.1:c.-98-22321=	XM_047449965.1:c.-98-22323_-98-22321del	XM_047449965.1:c.-98-22322_-98-22321del	XM_047449965.1:c.-98-22321del	XM_047449965.1:c.-98-22321dup	XM_047449965.1:c.-98-22322_-98-22321dup	XM_047449965.1:c.-98-22323_-98-22321dup	XM_047449965.1:c.-98-22325_-98-22321dup	XM_047449965.1:c.-98-22321_-98-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
LCORL transcript variant X2	XM_047449966.1:c.155-22321=	XM_047449966.1:c.155-22323_155-22321del	XM_047449966.1:c.155-22322_155-22321del	XM_047449966.1:c.155-22321del	XM_047449966.1:c.155-22321dup	XM_047449966.1:c.155-22322_155-22321dup	XM_047449966.1:c.155-22323_155-22321dup	XM_047449966.1:c.155-22325_155-22321dup	XM_047449966.1:c.155-22321_155-22320insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42259175	Dec 03, 2013 (138)
2	HUMANGENOME_JCVI	ss95347418	Feb 05, 2009 (137)
3	HUMANGENOME_JCVI	ss98906649	Feb 13, 2009 (137)
4	BUSHMAN	ss193725104	Mar 15, 2016 (147)
5	GMI	ss288489666	May 04, 2012 (137)
6	GMI	ss288489668	May 04, 2012 (137)
7	PJP	ss295154497	May 09, 2011 (134)
8	PJP	ss295154498	May 09, 2011 (137)
9	SSMP	ss663486491	Apr 01, 2015 (144)
10	SSIP	ss947110518	Aug 21, 2014 (142)
11	1000GENOMES	ss1371830075	Aug 21, 2014 (142)
12	EVA_GENOME_DK	ss1576177887	Apr 01, 2015 (144)
13	HAMMER_LAB	ss1801082653	Sep 08, 2015 (146)
14	HAMMER_LAB	ss1801082655	Sep 08, 2015 (146)
15	JJLAB	ss2030581640	Sep 14, 2016 (149)
16	SWEGEN	ss2994233220	Nov 08, 2017 (151)
17	MCHAISSO	ss3065935663	Nov 08, 2017 (151)
18	URBANLAB	ss3647665345	Oct 12, 2018 (152)
19	EVA_DECODE	ss3711519519	Jul 13, 2019 (153)
20	EVA_DECODE	ss3711519520	Jul 13, 2019 (153)
21	EVA_DECODE	ss3711519521	Jul 13, 2019 (153)
22	ACPOP	ss3730906808	Jul 13, 2019 (153)
23	PACBIO	ss3784635857	Jul 13, 2019 (153)
24	PACBIO	ss3794979505	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3804602264	Jul 13, 2019 (153)
26	EVA	ss3828399675	Apr 26, 2020 (154)
27	EVA	ss3843067932	Apr 26, 2020 (154)
28	GNOMAD	ss4091526790	Apr 26, 2021 (155)
29	GNOMAD	ss4091526791	Apr 26, 2021 (155)
30	GNOMAD	ss4091526792	Apr 26, 2021 (155)
31	GNOMAD	ss4091526793	Apr 26, 2021 (155)
32	GNOMAD	ss4091526794	Apr 26, 2021 (155)
33	GNOMAD	ss4091526795	Apr 26, 2021 (155)
34	GNOMAD	ss4091526796	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5164456498	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5164456499	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5164456500	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5258244909	Oct 13, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5258244910	Oct 13, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5258244911	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5258244912	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5258244913	Oct 13, 2022 (156)
43	HUGCELL_USP	ss5457122986	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5457122987	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5457122988	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5457122989	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5457122990	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5698176619	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5698176620	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5698176621	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5698176622	Oct 13, 2022 (156)
52	EVA	ss5854103804	Oct 13, 2022 (156)
53	1000Genomes	NC_000004.11 - 17996829	Oct 12, 2018 (152)
54	The Danish reference pan genome	NC_000004.11 - 17996829	Apr 26, 2020 (154)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 141858423 (NC_000004.12:17995205::T 1407/123558) Row 141858424 (NC_000004.12:17995205::TT 349/123568) Row 141858425 (NC_000004.12:17995205::TTT 12/123578)...	-	Apr 26, 2021 (155)
63	Northern Sweden	NC_000004.11 - 17996829	Jul 13, 2019 (153)
64	8.3KJPN Submission ignored due to conflicting rows: Row 22425805 (NC_000004.11:17996828:T: 1004/16760) Row 22425806 (NC_000004.11:17996828::T 188/16760) Row 22425807 (NC_000004.11:17996828::TT 1/16760)	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 22425805 (NC_000004.11:17996828:T: 1004/16760) Row 22425806 (NC_000004.11:17996828::T 188/16760) Row 22425807 (NC_000004.11:17996828::TT 1/16760)	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 22425805 (NC_000004.11:17996828:T: 1004/16760) Row 22425806 (NC_000004.11:17996828::T 188/16760) Row 22425807 (NC_000004.11:17996828::TT 1/16760)	-	Apr 26, 2021 (155)
67	14KJPN Submission ignored due to conflicting rows: Row 32013723 (NC_000004.12:17995205:T: 1634/28258) Row 32013724 (NC_000004.12:17995205::T 324/28258) Row 32013725 (NC_000004.12:17995205:TT: 2/28258)...	-	Oct 13, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 32013723 (NC_000004.12:17995205:T: 1634/28258) Row 32013724 (NC_000004.12:17995205::T 324/28258) Row 32013725 (NC_000004.12:17995205:TT: 2/28258)...	-	Oct 13, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 32013723 (NC_000004.12:17995205:T: 1634/28258) Row 32013724 (NC_000004.12:17995205::T 324/28258) Row 32013725 (NC_000004.12:17995205:TT: 2/28258)...	-	Oct 13, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 32013723 (NC_000004.12:17995205:T: 1634/28258) Row 32013724 (NC_000004.12:17995205::T 324/28258) Row 32013725 (NC_000004.12:17995205:TT: 2/28258)...	-	Oct 13, 2022 (156)
71	ALFA	NC_000004.12 - 17995206	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)
rs35834372	May 11, 2012 (137)
rs71651871	Jul 30, 2012 (137)
rs113702004	Oct 26, 2010 (133)
rs200256468	May 11, 2012 (137)
rs377122292	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4091526796, ss5258244913, ss5457122988	NC_000004.12:17995205:TTT:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss295154497	NC_000004.10:17605940:TT:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1801082655	NC_000004.11:17996828:TT:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3065935663, ss3711519519, ss4091526795, ss5258244910, ss5457122987, ss5698176621	NC_000004.12:17995205:TT:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss193725104	NT_006316.16:9178625:TT:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss288489666	NC_000004.10:17605926:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss295154498	NC_000004.10:17605941:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
20015000, 893459, 4191673, ss663486491, ss1371830075, ss1576177887, ss1801082653, ss2030581640, ss2994233220, ss3730906808, ss3784635857, ss3794979505, ss3828399675, ss5164456498	NC_000004.11:17996828:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss947110518	NC_000004.11:17996829:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3647665345, ss3804602264, ss3843067932, ss5258244909, ss5457122986, ss5698176619, ss5854103804	NC_000004.12:17995205:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3711519520	NC_000004.12:17995206:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss98906649	NT_006316.16:9178625:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss42259175, ss95347418	NT_006316.16:9178640:T:	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss288489668	NC_000004.10:17605942::T	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5164456499	NC_000004.11:17996828::T	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4091526790, ss5258244911, ss5457122989, ss5698176620	NC_000004.12:17995205::T	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3711519521	NC_000004.12:17995207::T	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5164456500	NC_000004.11:17996828::TT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4091526791, ss5258244912, ss5457122990, ss5698176622	NC_000004.12:17995205::TT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4091526792	NC_000004.12:17995205::TTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4091526793	NC_000004.12:17995205::TTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
9825209293	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4091526794	NC_000004.12:17995205::TTTTTTTTTTT… NC_000004.12:17995205::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000004.12:17995205:TTTTTTTTTTTT… NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs10602340

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10602340