Name: rs376621245
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.

rs376621245

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:99000-99042 (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(ATTT)₆ / del(ATTT)₄ / del(ATTT…
del(ATTT)₆ / del(ATTT)₄ / del(ATTT)₃ / del(ATTT)₂ / delATTT / dupATTT / dup(ATTT)₂ / dup(ATTT)₃ / dup(ATTT)₄ / dup(ATTT)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupATTT=0.3026 (1603/5298, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC124903816 : Non Coding Transcript 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	5298	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3915	TTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.2280, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3026, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0372, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0379, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0028, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000
European	Sub	4902	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3437	TTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.2458, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3266, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0398, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0410, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0031, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000
African	Sub	248	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.000	TTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000
African Others	Sub	4	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0	TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
African American	Sub	244	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.000	TTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000
Asian	Sub	10	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0	TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
East Asian	Sub	6	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0	TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Other Asian	Sub	4	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0	TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Latin American 1	Sub	2	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0	TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Latin American 2	Sub	72	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.00	TTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00
South Asian	Sub	6	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0	TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Other	Sub	58	TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.88	TTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.05, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.03, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.03, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00

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	5298	(TTTA)₁₀TTT=0.3915	del(ATTT)₄=0.0000, del(ATTT)₂=0.2280, delATTT=0.0372, dupATTT=0.3026, dup(ATTT)₂=0.0379, dup(ATTT)₃=0.0028, dup(ATTT)₄=0.0000, dup(ATTT)₅=0.0000
Allele Frequency Aggregator	European	Sub	4902	(TTTA)₁₀TTT=0.3437	del(ATTT)₄=0.0000, del(ATTT)₂=0.2458, delATTT=0.0398, dupATTT=0.3266, dup(ATTT)₂=0.0410, dup(ATTT)₃=0.0031, dup(ATTT)₄=0.0000, dup(ATTT)₅=0.0000
Allele Frequency Aggregator	African	Sub	248	(TTTA)₁₀TTT=1.000	del(ATTT)₄=0.000, del(ATTT)₂=0.000, delATTT=0.000, dupATTT=0.000, dup(ATTT)₂=0.000, dup(ATTT)₃=0.000, dup(ATTT)₄=0.000, dup(ATTT)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	72	(TTTA)₁₀TTT=1.00	del(ATTT)₄=0.00, del(ATTT)₂=0.00, delATTT=0.00, dupATTT=0.00, dup(ATTT)₂=0.00, dup(ATTT)₃=0.00, dup(ATTT)₄=0.00, dup(ATTT)₅=0.00
Allele Frequency Aggregator	Other	Sub	58	(TTTA)₁₀TTT=0.88	del(ATTT)₄=0.00, del(ATTT)₂=0.05, delATTT=0.03, dupATTT=0.03, dup(ATTT)₂=0.00, dup(ATTT)₃=0.00, dup(ATTT)₄=0.00, dup(ATTT)₅=0.00
Allele Frequency Aggregator	Asian	Sub	10	(TTTA)₁₀TTT=1.0	del(ATTT)₄=0.0, del(ATTT)₂=0.0, delATTT=0.0, dupATTT=0.0, dup(ATTT)₂=0.0, dup(ATTT)₃=0.0, dup(ATTT)₄=0.0, dup(ATTT)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(TTTA)₁₀TTT=1.0	del(ATTT)₄=0.0, del(ATTT)₂=0.0, delATTT=0.0, dupATTT=0.0, dup(ATTT)₂=0.0, dup(ATTT)₃=0.0, dup(ATTT)₄=0.0, dup(ATTT)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(TTTA)₁₀TTT=1.0	del(ATTT)₄=0.0, del(ATTT)₂=0.0, delATTT=0.0, dupATTT=0.0, dup(ATTT)₂=0.0, dup(ATTT)₃=0.0, dup(ATTT)₄=0.0, dup(ATTT)₅=0.0

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 1	NC_000001.11:g.99003ATTT[4]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[6]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[7]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[8]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[9]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[11]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[12]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[13]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[14]
GRCh38.p14 chr 1	NC_000001.11:g.99003ATTT[15]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[4]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[6]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[7]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[8]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[9]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[11]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[12]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[13]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[14]
GRCh37.p13 chr 1	NC_000001.10:g.99003ATTT[15]

Gene: LOC124903816, uncharacterized LOC124903816 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[4]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[6]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[7]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[8]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[9]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[11]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[12]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[13]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[14]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X1	XR_007065337.1:n.3782ATTT… XR_007065337.1:n.3782ATTT[15]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[4]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[6]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[7]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[8]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[9]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[11]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[12]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[13]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[14]	N/A	Non Coding Transcript Variant
LOC124903816 transcript variant X2	XR_007065338.1:n.3782ATTT… XR_007065338.1:n.3782ATTT[15]	N/A	Non Coding Transcript Variant

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

Not Reported in ClinVar

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

Placement	(TTTA)₁₀TTT=	del(ATTT)₆	del(ATTT)₄	del(ATTT)₃	del(ATTT)₂	delATTT	dupATTT	dup(ATTT)₂	dup(ATTT)₃	dup(ATTT)₄	dup(ATTT)₅
GRCh38.p14 chr 1	NC_000001.11:g.99000_99042=	NC_000001.11:g.99003ATTT[4]	NC_000001.11:g.99003ATTT[6]	NC_000001.11:g.99003ATTT[7]	NC_000001.11:g.99003ATTT[8]	NC_000001.11:g.99003ATTT[9]	NC_000001.11:g.99003ATTT[11]	NC_000001.11:g.99003ATTT[12]	NC_000001.11:g.99003ATTT[13]	NC_000001.11:g.99003ATTT[14]	NC_000001.11:g.99003ATTT[15]
GRCh37.p13 chr 1	NC_000001.10:g.99000_99042=	NC_000001.10:g.99003ATTT[4]	NC_000001.10:g.99003ATTT[6]	NC_000001.10:g.99003ATTT[7]	NC_000001.10:g.99003ATTT[8]	NC_000001.10:g.99003ATTT[9]	NC_000001.10:g.99003ATTT[11]	NC_000001.10:g.99003ATTT[12]	NC_000001.10:g.99003ATTT[13]	NC_000001.10:g.99003ATTT[14]	NC_000001.10:g.99003ATTT[15]
LOC124903816 transcript variant X1	XR_007065337.1:n.3779_3821=	XR_007065337.1:n.3782ATTT[4]	XR_007065337.1:n.3782ATTT[6]	XR_007065337.1:n.3782ATTT[7]	XR_007065337.1:n.3782ATTT[8]	XR_007065337.1:n.3782ATTT[9]	XR_007065337.1:n.3782ATTT[11]	XR_007065337.1:n.3782ATTT[12]	XR_007065337.1:n.3782ATTT[13]	XR_007065337.1:n.3782ATTT[14]	XR_007065337.1:n.3782ATTT[15]
LOC124903816 transcript variant X2	XR_007065338.1:n.3779_3821=	XR_007065338.1:n.3782ATTT[4]	XR_007065338.1:n.3782ATTT[6]	XR_007065338.1:n.3782ATTT[7]	XR_007065338.1:n.3782ATTT[8]	XR_007065338.1:n.3782ATTT[9]	XR_007065338.1:n.3782ATTT[11]	XR_007065338.1:n.3782ATTT[12]	XR_007065338.1:n.3782ATTT[13]	XR_007065338.1:n.3782ATTT[14]	XR_007065338.1:n.3782ATTT[15]

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#.

40 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BILGI_BIOE	ss666079958	Apr 25, 2013 (138)
2	DDI	ss1536213868	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1700140405	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1700153093	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1709905374	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1709907291	Apr 01, 2015 (144)
7	PADH-LAB_SPU	ss1713846953	Sep 08, 2015 (146)
8	SWEGEN	ss2986142742	Nov 08, 2017 (151)
9	MCHAISSO	ss3064385949	Nov 08, 2017 (151)
10	MCHAISSO	ss3065282409	Nov 08, 2017 (151)
11	EVA_DECODE	ss3685990764	Jul 12, 2019 (153)
12	EVA_DECODE	ss3685990765	Jul 12, 2019 (153)
13	EVA_DECODE	ss3685990766	Jul 12, 2019 (153)
14	EVA_DECODE	ss3685990767	Jul 12, 2019 (153)
15	EVA_DECODE	ss3685990768	Jul 12, 2019 (153)
16	EVA_DECODE	ss3685990769	Jul 12, 2019 (153)
17	GNOMAD	ss3986895486	Apr 25, 2021 (155)
18	GNOMAD	ss3986895487	Apr 25, 2021 (155)
19	GNOMAD	ss3986895488	Apr 25, 2021 (155)
20	GNOMAD	ss3986895489	Apr 25, 2021 (155)
21	GNOMAD	ss3986895490	Apr 25, 2021 (155)
22	GNOMAD	ss3986895491	Apr 25, 2021 (155)
23	GNOMAD	ss3986895492	Apr 25, 2021 (155)
24	GNOMAD	ss3986895493	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5142035224	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5142035225	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5142035226	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5142035227	Apr 25, 2021 (155)
29	TOMMO_GENOMICS	ss5142035228	Apr 25, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5240855730	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5442111087	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5442111088	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5442111089	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5442111090	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5666168311	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5666168312	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5666168313	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5666168314	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5666168315	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5666168316	Oct 12, 2022 (156)
41	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 29 (NC_000001.10:98999::TTTA 1760/3854) Row 30 (NC_000001.10:98999:TTTA: 372/3854)	-	Oct 11, 2018 (152)
42	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 29 (NC_000001.10:98999::TTTA 1760/3854) Row 30 (NC_000001.10:98999:TTTA: 372/3854)	-	Oct 11, 2018 (152)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610) Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516) Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...	-	Apr 25, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754) Row 4532 (NC_000001.10:98999::TTTA 8031/16754) Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...	-	Apr 25, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754) Row 4532 (NC_000001.10:98999::TTTA 8031/16754) Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...	-	Apr 25, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754) Row 4532 (NC_000001.10:98999::TTTA 8031/16754) Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...	-	Apr 25, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754) Row 4532 (NC_000001.10:98999::TTTA 8031/16754) Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...	-	Apr 25, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754) Row 4532 (NC_000001.10:98999::TTTA 8031/16754) Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...	-	Apr 25, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 5415 (NC_000001.11:98999:TTTA: 1090/28220) Row 5416 (NC_000001.11:98999::TTTA 13686/28220) Row 5417 (NC_000001.11:98999::TTTATTTA 1158/28220)...	-	Oct 12, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 5415 (NC_000001.11:98999:TTTA: 1090/28220) Row 5416 (NC_000001.11:98999::TTTA 13686/28220) Row 5417 (NC_000001.11:98999::TTTATTTA 1158/28220)...	-	Oct 12, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 5415 (NC_000001.11:98999:TTTA: 1090/28220) Row 5416 (NC_000001.11:98999::TTTA 13686/28220) Row 5417 (NC_000001.11:98999::TTTATTTA 1158/28220)...	-	Oct 12, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 5415 (NC_000001.11:98999:TTTA: 1090/28220) Row 5416 (NC_000001.11:98999::TTTA 13686/28220) Row 5417 (NC_000001.11:98999::TTTATTTA 1158/28220)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 5415 (NC_000001.11:98999:TTTA: 1090/28220) Row 5416 (NC_000001.11:98999::TTTA 13686/28220) Row 5417 (NC_000001.11:98999::TTTATTTA 1158/28220)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 5415 (NC_000001.11:98999:TTTA: 1090/28220) Row 5416 (NC_000001.11:98999::TTTA 13686/28220) Row 5417 (NC_000001.11:98999::TTTATTTA 1158/28220)...	-	Oct 12, 2022 (156)
62	UK 10K study - Twins Submission ignored due to conflicting rows: Row 29 (NC_000001.10:98999::TTTA 1763/3708) Row 30 (NC_000001.10:98999:TTTA: 310/3708)	-	Oct 11, 2018 (152)
63	UK 10K study - Twins Submission ignored due to conflicting rows: Row 29 (NC_000001.10:98999::TTTA 1763/3708) Row 30 (NC_000001.10:98999:TTTA: 310/3708)	-	Oct 11, 2018 (152)
64	ALFA	NC_000001.11 - 99000	Apr 25, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3685990764, ss3986895493	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTT	(self)
ss3065282409, ss3986895492	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT	(self)
ss3986895491, ss5666168315	NC_000001.11:98999:TTTATTTATTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss2986142742, ss5142035224	NC_000001.10:98999:TTTATTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3064385949, ss3986895490, ss5240855730, ss5442111088, ss5666168314	NC_000001.11:98999:TTTATTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3685990765	NC_000001.11:99015:TTTATTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss1700140405, ss1700153093, ss5142035227	NC_000001.10:98999:TTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3986895489, ss5442111090, ss5666168311	NC_000001.11:98999:TTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3685990766	NC_000001.11:99019:TTTA:	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss666079958, ss1536213868, ss1713846953, ss5142035225	NC_000001.10:98999::TTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss1709905374, ss1709907291	NC_000001.10:99003::TTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss5442111087, ss5666168312	NC_000001.11:98999::TTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3685990767	NC_000001.11:99023::TTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss5142035226	NC_000001.10:98999::TTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3986895486, ss5442111089, ss5666168313	NC_000001.11:98999::TTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3685990768	NC_000001.11:99023::TTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss5142035228	NC_000001.10:98999::TTTATTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3986895487, ss5666168316	NC_000001.11:98999::TTTATTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3685990769	NC_000001.11:99023::TTTATTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
ss3986895488	NC_000001.11:98999::TTTATTTATTTATT… NC_000001.11:98999::TTTATTTATTTATTTA	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(self)
5367046479	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	NC_000001.11:98999:TTTATTTATTTATTT… NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	(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 rs376621245

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs376621245