Name: rs57806034
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.

rs57806034

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:230645234-230645256 (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)₁₄ / del(A)₁₃ / del(A)₁₁ / d…
del(A)₁₄ / del(A)₁₃ / 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 / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₉ / dup(A)₁₈ / dup(A)₂₃ / ins(A)₂₅
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.00 (0/92, ALFA)
del(A)₁₃=0.00 (0/92, ALFA)
del(A)₁₁=0.00 (0/92, ALFA) (+ 12 more)
del(A)₁₀=0.00 (0/92, ALFA)
del(A)₉=0.00 (0/92, ALFA)
del(A)₈=0.00 (0/92, ALFA)
del(A)₇=0.00 (0/92, ALFA)
del(A)₆=0.00 (0/92, ALFA)
del(A)₅=0.00 (0/92, ALFA)
delAAA=0.00 (0/92, ALFA)
delAA=0.00 (0/92, ALFA)
delA=0.00 (0/92, ALFA)
dupA=0.00 (0/92, ALFA)
dupAA=0.00 (0/92, ALFA)
dupAAA=0.00 (0/92, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: COG2 : 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	92	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	22	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	68	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	6	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	62	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	2	AAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator	Total	Global	92	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₃=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)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	African	Sub	68	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₃=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)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	European	Sub	22	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₃=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)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	2	(A)₂₃=1.0	del(A)₁₄=0.0, del(A)₁₃=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)₅=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₃=0	del(A)₁₄=0, del(A)₁₃=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)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₃=0	del(A)₁₄=0, del(A)₁₃=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)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₃=0	del(A)₁₄=0, del(A)₁₃=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)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₃=0	del(A)₁₄=0, del(A)₁₃=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)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=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.230645243_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645244_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645246_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645247_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645248_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645249_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645250_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645251_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645252_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645253_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645254_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645255_230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645256del
GRCh38.p14 chr 1	NC_000001.11:g.230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645255_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645254_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645253_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645252_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645251_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645250_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645248_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645239_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645234_230645256dup
GRCh38.p14 chr 1	NC_000001.11:g.230645256_230645257insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1	NC_000001.10:g.230780989_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780990_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780992_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780993_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780994_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780995_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780996_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780997_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780998_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230780999_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230781000_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230781001_230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230781002del
GRCh37.p13 chr 1	NC_000001.10:g.230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230781001_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230781000_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780999_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780998_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780997_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780996_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780994_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780985_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230780980_230781002dup
GRCh37.p13 chr 1	NC_000001.10:g.230781002_230781003insAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: COG2, component of oligomeric golgi complex 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COG2 transcript variant 2	NM_001145036.2:c.72+2565_… NM_001145036.2:c.72+2565_72+2578del	N/A	Intron Variant
COG2 transcript variant 1	NM_007357.3:c.72+2565_72+… NM_007357.3:c.72+2565_72+2578del	N/A	Intron Variant
COG2 transcript variant X1	XM_047449445.1:c.	N/A	Genic Upstream 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	(A)₂₃=	del(A)₁₄	del(A)₁₃	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	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₉	dup(A)₁₈	dup(A)₂₃	ins(A)₂₅
GRCh38.p14 chr 1	NC_000001.11:g.230645234_230645256=	NC_000001.11:g.230645243_230645256del	NC_000001.11:g.230645244_230645256del	NC_000001.11:g.230645246_230645256del	NC_000001.11:g.230645247_230645256del	NC_000001.11:g.230645248_230645256del	NC_000001.11:g.230645249_230645256del	NC_000001.11:g.230645250_230645256del	NC_000001.11:g.230645251_230645256del	NC_000001.11:g.230645252_230645256del	NC_000001.11:g.230645253_230645256del	NC_000001.11:g.230645254_230645256del	NC_000001.11:g.230645255_230645256del	NC_000001.11:g.230645256del	NC_000001.11:g.230645256dup	NC_000001.11:g.230645255_230645256dup	NC_000001.11:g.230645254_230645256dup	NC_000001.11:g.230645253_230645256dup	NC_000001.11:g.230645252_230645256dup	NC_000001.11:g.230645251_230645256dup	NC_000001.11:g.230645250_230645256dup	NC_000001.11:g.230645248_230645256dup	NC_000001.11:g.230645239_230645256dup	NC_000001.11:g.230645234_230645256dup	NC_000001.11:g.230645256_230645257insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1	NC_000001.10:g.230780980_230781002=	NC_000001.10:g.230780989_230781002del	NC_000001.10:g.230780990_230781002del	NC_000001.10:g.230780992_230781002del	NC_000001.10:g.230780993_230781002del	NC_000001.10:g.230780994_230781002del	NC_000001.10:g.230780995_230781002del	NC_000001.10:g.230780996_230781002del	NC_000001.10:g.230780997_230781002del	NC_000001.10:g.230780998_230781002del	NC_000001.10:g.230780999_230781002del	NC_000001.10:g.230781000_230781002del	NC_000001.10:g.230781001_230781002del	NC_000001.10:g.230781002del	NC_000001.10:g.230781002dup	NC_000001.10:g.230781001_230781002dup	NC_000001.10:g.230781000_230781002dup	NC_000001.10:g.230780999_230781002dup	NC_000001.10:g.230780998_230781002dup	NC_000001.10:g.230780997_230781002dup	NC_000001.10:g.230780996_230781002dup	NC_000001.10:g.230780994_230781002dup	NC_000001.10:g.230780985_230781002dup	NC_000001.10:g.230780980_230781002dup	NC_000001.10:g.230781002_230781003insAAAAAAAAAAAAAAAAAAAAAAAAA
COG2 transcript variant 2	NM_001145036.1:c.72+2556=	NM_001145036.1:c.72+2565_72+2578del	NM_001145036.1:c.72+2566_72+2578del	NM_001145036.1:c.72+2568_72+2578del	NM_001145036.1:c.72+2569_72+2578del	NM_001145036.1:c.72+2570_72+2578del	NM_001145036.1:c.72+2571_72+2578del	NM_001145036.1:c.72+2572_72+2578del	NM_001145036.1:c.72+2573_72+2578del	NM_001145036.1:c.72+2574_72+2578del	NM_001145036.1:c.72+2575_72+2578del	NM_001145036.1:c.72+2576_72+2578del	NM_001145036.1:c.72+2577_72+2578del	NM_001145036.1:c.72+2578del	NM_001145036.1:c.72+2578dup	NM_001145036.1:c.72+2577_72+2578dup	NM_001145036.1:c.72+2576_72+2578dup	NM_001145036.1:c.72+2575_72+2578dup	NM_001145036.1:c.72+2574_72+2578dup	NM_001145036.1:c.72+2573_72+2578dup	NM_001145036.1:c.72+2572_72+2578dup	NM_001145036.1:c.72+2570_72+2578dup	NM_001145036.1:c.72+2561_72+2578dup	NM_001145036.1:c.72+2556_72+2578dup	NM_001145036.1:c.72+2578_72+2579insAAAAAAAAAAAAAAAAAAAAAAAAA
COG2 transcript variant 2	NM_001145036.2:c.72+2556=	NM_001145036.2:c.72+2565_72+2578del	NM_001145036.2:c.72+2566_72+2578del	NM_001145036.2:c.72+2568_72+2578del	NM_001145036.2:c.72+2569_72+2578del	NM_001145036.2:c.72+2570_72+2578del	NM_001145036.2:c.72+2571_72+2578del	NM_001145036.2:c.72+2572_72+2578del	NM_001145036.2:c.72+2573_72+2578del	NM_001145036.2:c.72+2574_72+2578del	NM_001145036.2:c.72+2575_72+2578del	NM_001145036.2:c.72+2576_72+2578del	NM_001145036.2:c.72+2577_72+2578del	NM_001145036.2:c.72+2578del	NM_001145036.2:c.72+2578dup	NM_001145036.2:c.72+2577_72+2578dup	NM_001145036.2:c.72+2576_72+2578dup	NM_001145036.2:c.72+2575_72+2578dup	NM_001145036.2:c.72+2574_72+2578dup	NM_001145036.2:c.72+2573_72+2578dup	NM_001145036.2:c.72+2572_72+2578dup	NM_001145036.2:c.72+2570_72+2578dup	NM_001145036.2:c.72+2561_72+2578dup	NM_001145036.2:c.72+2556_72+2578dup	NM_001145036.2:c.72+2578_72+2579insAAAAAAAAAAAAAAAAAAAAAAAAA
COG2 transcript variant 1	NM_007357.2:c.72+2556=	NM_007357.2:c.72+2565_72+2578del	NM_007357.2:c.72+2566_72+2578del	NM_007357.2:c.72+2568_72+2578del	NM_007357.2:c.72+2569_72+2578del	NM_007357.2:c.72+2570_72+2578del	NM_007357.2:c.72+2571_72+2578del	NM_007357.2:c.72+2572_72+2578del	NM_007357.2:c.72+2573_72+2578del	NM_007357.2:c.72+2574_72+2578del	NM_007357.2:c.72+2575_72+2578del	NM_007357.2:c.72+2576_72+2578del	NM_007357.2:c.72+2577_72+2578del	NM_007357.2:c.72+2578del	NM_007357.2:c.72+2578dup	NM_007357.2:c.72+2577_72+2578dup	NM_007357.2:c.72+2576_72+2578dup	NM_007357.2:c.72+2575_72+2578dup	NM_007357.2:c.72+2574_72+2578dup	NM_007357.2:c.72+2573_72+2578dup	NM_007357.2:c.72+2572_72+2578dup	NM_007357.2:c.72+2570_72+2578dup	NM_007357.2:c.72+2561_72+2578dup	NM_007357.2:c.72+2556_72+2578dup	NM_007357.2:c.72+2578_72+2579insAAAAAAAAAAAAAAAAAAAAAAAAA
COG2 transcript variant 1	NM_007357.3:c.72+2556=	NM_007357.3:c.72+2565_72+2578del	NM_007357.3:c.72+2566_72+2578del	NM_007357.3:c.72+2568_72+2578del	NM_007357.3:c.72+2569_72+2578del	NM_007357.3:c.72+2570_72+2578del	NM_007357.3:c.72+2571_72+2578del	NM_007357.3:c.72+2572_72+2578del	NM_007357.3:c.72+2573_72+2578del	NM_007357.3:c.72+2574_72+2578del	NM_007357.3:c.72+2575_72+2578del	NM_007357.3:c.72+2576_72+2578del	NM_007357.3:c.72+2577_72+2578del	NM_007357.3:c.72+2578del	NM_007357.3:c.72+2578dup	NM_007357.3:c.72+2577_72+2578dup	NM_007357.3:c.72+2576_72+2578dup	NM_007357.3:c.72+2575_72+2578dup	NM_007357.3:c.72+2574_72+2578dup	NM_007357.3:c.72+2573_72+2578dup	NM_007357.3:c.72+2572_72+2578dup	NM_007357.3:c.72+2570_72+2578dup	NM_007357.3:c.72+2561_72+2578dup	NM_007357.3:c.72+2556_72+2578dup	NM_007357.3:c.72+2578_72+2579insAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

62 SubSNP, 38 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41234342	Dec 03, 2013 (138)
2	HGSV	ss80247001	Dec 15, 2007 (129)
3	HGSV	ss80737858	Dec 14, 2007 (129)
4	HUMANGENOME_JCVI	ss95257527	Feb 06, 2009 (130)
5	PJP	ss294630027	May 09, 2011 (134)
6	EVA_UK10K_ALSPAC	ss1701906391	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1701906450	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1709976891	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1709976892	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1709976897	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1709976899	Apr 01, 2015 (144)
12	SWEGEN	ss2988608865	Nov 08, 2017 (151)
13	MCHAISSO	ss3063629924	Nov 08, 2017 (151)
14	MCHAISSO	ss3065354767	Nov 08, 2017 (151)
15	EVA_DECODE	ss3688818378	Jul 12, 2019 (153)
16	EVA_DECODE	ss3688818379	Jul 12, 2019 (153)
17	EVA_DECODE	ss3688818380	Jul 12, 2019 (153)
18	EVA_DECODE	ss3688818381	Jul 12, 2019 (153)
19	EVA_DECODE	ss3688818382	Jul 12, 2019 (153)
20	EVA_DECODE	ss3688818383	Jul 12, 2019 (153)
21	PACBIO	ss3789321012	Jul 12, 2019 (153)
22	PACBIO	ss3794193425	Jul 12, 2019 (153)
23	EVA	ss3826693479	Apr 25, 2020 (154)
24	GNOMAD	ss4012954012	Apr 25, 2021 (155)
25	GNOMAD	ss4012954013	Apr 25, 2021 (155)
26	GNOMAD	ss4012954014	Apr 25, 2021 (155)
27	GNOMAD	ss4012954015	Apr 25, 2021 (155)
28	GNOMAD	ss4012954016	Apr 25, 2021 (155)
29	GNOMAD	ss4012954017	Apr 25, 2021 (155)
30	GNOMAD	ss4012954018	Apr 25, 2021 (155)
31	GNOMAD	ss4012954019	Apr 25, 2021 (155)
32	GNOMAD	ss4012954020	Apr 25, 2021 (155)
33	GNOMAD	ss4012954021	Apr 25, 2021 (155)
34	GNOMAD	ss4012954022	Apr 25, 2021 (155)
35	GNOMAD	ss4012954024	Apr 25, 2021 (155)
36	GNOMAD	ss4012954025	Apr 25, 2021 (155)
37	GNOMAD	ss4012954026	Apr 25, 2021 (155)
38	GNOMAD	ss4012954027	Apr 25, 2021 (155)
39	GNOMAD	ss4012954028	Apr 25, 2021 (155)
40	GNOMAD	ss4012954029	Apr 25, 2021 (155)
41	GNOMAD	ss4012954030	Apr 25, 2021 (155)
42	GNOMAD	ss4012954031	Apr 25, 2021 (155)
43	GNOMAD	ss4012954032	Apr 25, 2021 (155)
44	GNOMAD	ss4012954033	Apr 25, 2021 (155)
45	GNOMAD	ss4012954034	Apr 25, 2021 (155)
46	GNOMAD	ss4012954035	Apr 25, 2021 (155)
47	TOMMO_GENOMICS	ss5148873975	Apr 25, 2021 (155)
48	TOMMO_GENOMICS	ss5148873976	Apr 25, 2021 (155)
49	TOMMO_GENOMICS	ss5148873977	Apr 25, 2021 (155)
50	TOMMO_GENOMICS	ss5148873978	Apr 25, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5246130322	Oct 12, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5246130323	Oct 12, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5246130325	Oct 12, 2022 (156)
54	HUGCELL_USP	ss5446532792	Oct 12, 2022 (156)
55	HUGCELL_USP	ss5446532793	Oct 12, 2022 (156)
56	HUGCELL_USP	ss5446532794	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5676762609	Oct 12, 2022 (156)
58	TOMMO_GENOMICS	ss5676762610	Oct 12, 2022 (156)
59	TOMMO_GENOMICS	ss5676762611	Oct 12, 2022 (156)
60	TOMMO_GENOMICS	ss5676762612	Oct 12, 2022 (156)
61	EVA	ss5833397506	Oct 12, 2022 (156)
62	EVA	ss5833397507	Oct 12, 2022 (156)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3262873 (NC_000001.10:230780980:A: 2432/3854) Row 3262874 (NC_000001.10:230780979::AAA 1014/3854) Row 3262875 (NC_000001.10:230780979:AAA: 407/3854)	-	Oct 11, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3262873 (NC_000001.10:230780980:A: 2432/3854) Row 3262874 (NC_000001.10:230780979::AAA 1014/3854) Row 3262875 (NC_000001.10:230780979:AAA: 407/3854)	-	Oct 11, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3262873 (NC_000001.10:230780980:A: 2432/3854) Row 3262874 (NC_000001.10:230780979::AAA 1014/3854) Row 3262875 (NC_000001.10:230780979:AAA: 407/3854)	-	Oct 11, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 42348798 (NC_000001.11:230645233::A 43/83330) Row 42348799 (NC_000001.11:230645233::AA 5/83348) Row 42348800 (NC_000001.11:230645233::AAA 11/83340)...	-	Apr 25, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 6843282 (NC_000001.10:230780979:AA: 8731/16550) Row 6843283 (NC_000001.10:230780979:A: 4805/16550) Row 6843284 (NC_000001.10:230780979:AAA: 10/16550)...	-	Apr 25, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 6843282 (NC_000001.10:230780979:AA: 8731/16550) Row 6843283 (NC_000001.10:230780979:A: 4805/16550) Row 6843284 (NC_000001.10:230780979:AAA: 10/16550)...	-	Apr 25, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 6843282 (NC_000001.10:230780979:AA: 8731/16550) Row 6843283 (NC_000001.10:230780979:A: 4805/16550) Row 6843284 (NC_000001.10:230780979:AAA: 10/16550)...	-	Apr 25, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 6843282 (NC_000001.10:230780979:AA: 8731/16550) Row 6843283 (NC_000001.10:230780979:A: 4805/16550) Row 6843284 (NC_000001.10:230780979:AAA: 10/16550)...	-	Apr 25, 2021 (155)
93	14KJPN Submission ignored due to conflicting rows: Row 10599713 (NC_000001.11:230645233:AA: 15134/27734) Row 10599714 (NC_000001.11:230645233:A: 9045/27734) Row 10599715 (NC_000001.11:230645233:AAA: 16/27734)...	-	Oct 12, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 10599713 (NC_000001.11:230645233:AA: 15134/27734) Row 10599714 (NC_000001.11:230645233:A: 9045/27734) Row 10599715 (NC_000001.11:230645233:AAA: 16/27734)...	-	Oct 12, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 10599713 (NC_000001.11:230645233:AA: 15134/27734) Row 10599714 (NC_000001.11:230645233:A: 9045/27734) Row 10599715 (NC_000001.11:230645233:AAA: 16/27734)...	-	Oct 12, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 10599713 (NC_000001.11:230645233:AA: 15134/27734) Row 10599714 (NC_000001.11:230645233:A: 9045/27734) Row 10599715 (NC_000001.11:230645233:AAA: 16/27734)...	-	Oct 12, 2022 (156)
97	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3262873 (NC_000001.10:230780980:A: 2344/3708) Row 3262874 (NC_000001.10:230780979::AAA 973/3708) Row 3262875 (NC_000001.10:230780979:AAA: 389/3708)	-	Oct 11, 2018 (152)
98	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3262873 (NC_000001.10:230780980:A: 2344/3708) Row 3262874 (NC_000001.10:230780979::AAA 973/3708) Row 3262875 (NC_000001.10:230780979:AAA: 389/3708)	-	Oct 11, 2018 (152)
99	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3262873 (NC_000001.10:230780980:A: 2344/3708) Row 3262874 (NC_000001.10:230780979::AAA 973/3708) Row 3262875 (NC_000001.10:230780979:AAA: 389/3708)	-	Oct 11, 2018 (152)
100	ALFA	NC_000001.11 - 230645234	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
ss4012954035	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4012954034	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4012954033	NC_000001.11:230645233:AAAAAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5148873978	NC_000001.10:230780979:AAAAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4012954032, ss5676762612	NC_000001.11:230645233:AAAAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4012954031	NC_000001.11:230645233:AAAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4012954030	NC_000001.11:230645233:AAAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4012954029	NC_000001.11:230645233:AAAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3688818383, ss4012954028	NC_000001.11:230645233:AAAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4012954027	NC_000001.11:230645233:AAAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4012954026	NC_000001.11:230645233:AAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3688818382	NC_000001.11:230645235:AAAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1701906391, ss1701906450, ss5148873977, ss5833397507	NC_000001.10:230780979:AAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4012954025, ss5246130325, ss5676762611	NC_000001.11:230645233:AAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3688818381	NC_000001.11:230645236:AAA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss80737858	NC_000001.8:227087735:AA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss2988608865, ss3826693479, ss5148873975, ss5833397506	NC_000001.10:230780979:AA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1709976891, ss1709976897	NC_000001.10:230780980:AA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3063629924, ss3065354767, ss4012954024, ss5246130322, ss5446532793, ss5676762609	NC_000001.11:230645233:AA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3688818380	NC_000001.11:230645237:AA:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss80247001	NC_000001.8:227087736:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss294630027	NC_000001.9:228847624:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3789321012, ss3794193425, ss5148873976	NC_000001.10:230780979:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000001.10:230780980:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5246130323, ss5446532792, ss5676762610	NC_000001.11:230645233:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688818379	NC_000001.11:230645238:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss41234342	NT_167186.1:24298758:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss95257527	NT_167186.1:24298780:A:	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954012, ss5446532794	NC_000001.11:230645233::A	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954013	NC_000001.11:230645233::AA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000001.10:230780979::AAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1709976892, ss1709976899	NC_000001.10:230780982::AAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954014	NC_000001.11:230645233::AAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6012901154	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954015	NC_000001.11:230645233::AAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688818378	NC_000001.11:230645239::AAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954016	NC_000001.11:230645233::AAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954017	NC_000001.11:230645233::AAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954018	NC_000001.11:230645233::AAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954019	NC_000001.11:230645233::AAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954020	NC_000001.11:230645233::AAAAAAAAAA… NC_000001.11:230645233::AAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954021	NC_000001.11:230645233::AAAAAAAAAA… NC_000001.11:230645233::AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4012954022	NC_000001.11:230645233::AAAAAAAAAA… NC_000001.11:230645233::AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:230645233:AAAAAAAAAAA… NC_000001.11:230645233:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs57806034

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

rs57806034