Name: rs59290830
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.

rs59290830

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:49180930-49180951 (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)₁₀ / del(A)₉ / del(A)₈ / del…
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
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.0000 (0/1072, ALFA)
del(A)₉=0.0000 (0/1072, ALFA)
del(A)₈=0.0000 (0/1072, ALFA) (+ 9 more)
del(A)₇=0.0000 (0/1072, ALFA)
del(A)₆=0.0000 (0/1072, ALFA)
del(A)₅=0.0000 (0/1072, ALFA)
del(A)₄=0.0000 (0/1072, ALFA)
delAAA=0.0000 (0/1072, ALFA)
delAA=0.0000 (0/1072, ALFA)
delA=0.0000 (0/1072, ALFA)
dupA=0.0000 (0/1072, ALFA)
dupAA=0.0000 (0/1072, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: C3orf84 : 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	1072	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	874	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	116	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	116	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	20	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	24	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	36	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	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	1072	(A)₂₂=1.0000	del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	874	(A)₂₂=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	African	Sub	116	(A)₂₂=1.000	del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	36	(A)₂₂=1.00	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, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	24	(A)₂₂=1.00	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, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(A)₂₂=1.00	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, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₂=1.0	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, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₂=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, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=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 3	NC_000003.12:g.49180942_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180943_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180944_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180945_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180946_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180947_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180948_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180949_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180950_49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180951del
GRCh38.p14 chr 3	NC_000003.12:g.49180951dup
GRCh38.p14 chr 3	NC_000003.12:g.49180950_49180951dup
GRCh38.p14 chr 3	NC_000003.12:g.49180949_49180951dup
GRCh38.p14 chr 3	NC_000003.12:g.49180948_49180951dup
GRCh38.p14 chr 3	NC_000003.12:g.49180947_49180951dup
GRCh38.p14 chr 3	NC_000003.12:g.49180946_49180951dup
GRCh37.p13 chr 3	NC_000003.11:g.49218375_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218376_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218377_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218378_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218379_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218380_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218381_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218382_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218383_49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218384del
GRCh37.p13 chr 3	NC_000003.11:g.49218384dup
GRCh37.p13 chr 3	NC_000003.11:g.49218383_49218384dup
GRCh37.p13 chr 3	NC_000003.11:g.49218382_49218384dup
GRCh37.p13 chr 3	NC_000003.11:g.49218381_49218384dup
GRCh37.p13 chr 3	NC_000003.11:g.49218380_49218384dup
GRCh37.p13 chr 3	NC_000003.11:g.49218379_49218384dup

Gene: C3orf84, chromosome 3 open reading frame 84 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CIMIP7 transcript	NM_001080528.3:c.142-2401… NM_001080528.3:c.142-2401_142-2392del	N/A	Intron Variant
CIMIP7 transcript variant X1	XM_011534015.3:c.142-2401… XM_011534015.3:c.142-2401_142-2392del	N/A	Intron Variant
CIMIP7 transcript variant X2	XM_011534017.3:c.28-2401_… XM_011534017.3:c.28-2401_28-2392del	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₂=	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
GRCh38.p14 chr 3	NC_000003.12:g.49180930_49180951=	NC_000003.12:g.49180942_49180951del	NC_000003.12:g.49180943_49180951del	NC_000003.12:g.49180944_49180951del	NC_000003.12:g.49180945_49180951del	NC_000003.12:g.49180946_49180951del	NC_000003.12:g.49180947_49180951del	NC_000003.12:g.49180948_49180951del	NC_000003.12:g.49180949_49180951del	NC_000003.12:g.49180950_49180951del	NC_000003.12:g.49180951del	NC_000003.12:g.49180951dup	NC_000003.12:g.49180950_49180951dup	NC_000003.12:g.49180949_49180951dup	NC_000003.12:g.49180948_49180951dup	NC_000003.12:g.49180947_49180951dup	NC_000003.12:g.49180946_49180951dup
GRCh37.p13 chr 3	NC_000003.11:g.49218363_49218384=	NC_000003.11:g.49218375_49218384del	NC_000003.11:g.49218376_49218384del	NC_000003.11:g.49218377_49218384del	NC_000003.11:g.49218378_49218384del	NC_000003.11:g.49218379_49218384del	NC_000003.11:g.49218380_49218384del	NC_000003.11:g.49218381_49218384del	NC_000003.11:g.49218382_49218384del	NC_000003.11:g.49218383_49218384del	NC_000003.11:g.49218384del	NC_000003.11:g.49218384dup	NC_000003.11:g.49218383_49218384dup	NC_000003.11:g.49218382_49218384dup	NC_000003.11:g.49218381_49218384dup	NC_000003.11:g.49218380_49218384dup	NC_000003.11:g.49218379_49218384dup
C3orf84 transcript	NM_001080528.2:c.142-2392=	NM_001080528.2:c.142-2401_142-2392del	NM_001080528.2:c.142-2400_142-2392del	NM_001080528.2:c.142-2399_142-2392del	NM_001080528.2:c.142-2398_142-2392del	NM_001080528.2:c.142-2397_142-2392del	NM_001080528.2:c.142-2396_142-2392del	NM_001080528.2:c.142-2395_142-2392del	NM_001080528.2:c.142-2394_142-2392del	NM_001080528.2:c.142-2393_142-2392del	NM_001080528.2:c.142-2392del	NM_001080528.2:c.142-2392dup	NM_001080528.2:c.142-2393_142-2392dup	NM_001080528.2:c.142-2394_142-2392dup	NM_001080528.2:c.142-2395_142-2392dup	NM_001080528.2:c.142-2396_142-2392dup	NM_001080528.2:c.142-2397_142-2392dup
CIMIP7 transcript	NM_001080528.3:c.142-2392=	NM_001080528.3:c.142-2401_142-2392del	NM_001080528.3:c.142-2400_142-2392del	NM_001080528.3:c.142-2399_142-2392del	NM_001080528.3:c.142-2398_142-2392del	NM_001080528.3:c.142-2397_142-2392del	NM_001080528.3:c.142-2396_142-2392del	NM_001080528.3:c.142-2395_142-2392del	NM_001080528.3:c.142-2394_142-2392del	NM_001080528.3:c.142-2393_142-2392del	NM_001080528.3:c.142-2392del	NM_001080528.3:c.142-2392dup	NM_001080528.3:c.142-2393_142-2392dup	NM_001080528.3:c.142-2394_142-2392dup	NM_001080528.3:c.142-2395_142-2392dup	NM_001080528.3:c.142-2396_142-2392dup	NM_001080528.3:c.142-2397_142-2392dup
CIMIP7 transcript variant X1	XM_011534015.3:c.142-2392=	XM_011534015.3:c.142-2401_142-2392del	XM_011534015.3:c.142-2400_142-2392del	XM_011534015.3:c.142-2399_142-2392del	XM_011534015.3:c.142-2398_142-2392del	XM_011534015.3:c.142-2397_142-2392del	XM_011534015.3:c.142-2396_142-2392del	XM_011534015.3:c.142-2395_142-2392del	XM_011534015.3:c.142-2394_142-2392del	XM_011534015.3:c.142-2393_142-2392del	XM_011534015.3:c.142-2392del	XM_011534015.3:c.142-2392dup	XM_011534015.3:c.142-2393_142-2392dup	XM_011534015.3:c.142-2394_142-2392dup	XM_011534015.3:c.142-2395_142-2392dup	XM_011534015.3:c.142-2396_142-2392dup	XM_011534015.3:c.142-2397_142-2392dup
CIMIP7 transcript variant X2	XM_011534017.3:c.28-2392=	XM_011534017.3:c.28-2401_28-2392del	XM_011534017.3:c.28-2400_28-2392del	XM_011534017.3:c.28-2399_28-2392del	XM_011534017.3:c.28-2398_28-2392del	XM_011534017.3:c.28-2397_28-2392del	XM_011534017.3:c.28-2396_28-2392del	XM_011534017.3:c.28-2395_28-2392del	XM_011534017.3:c.28-2394_28-2392del	XM_011534017.3:c.28-2393_28-2392del	XM_011534017.3:c.28-2392del	XM_011534017.3:c.28-2392dup	XM_011534017.3:c.28-2393_28-2392dup	XM_011534017.3:c.28-2394_28-2392dup	XM_011534017.3:c.28-2395_28-2392dup	XM_011534017.3:c.28-2396_28-2392dup	XM_011534017.3:c.28-2397_28-2392dup

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#.

39 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81044775	Dec 15, 2007 (129)
2	HGSV	ss81539719	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95316862	Feb 05, 2009 (130)
4	HUMANGENOME_JCVI	ss99166173	Dec 06, 2013 (138)
5	PJP	ss295099249	Aug 21, 2014 (142)
6	PJP	ss295099250	May 09, 2011 (134)
7	SWEGEN	ss2992269561	Nov 08, 2017 (151)
8	EVA_DECODE	ss3709177149	Jul 13, 2019 (153)
9	EVA_DECODE	ss3709177150	Jul 13, 2019 (153)
10	EVA_DECODE	ss3709177151	Jul 13, 2019 (153)
11	EVA_DECODE	ss3709177152	Jul 13, 2019 (153)
12	EVA_DECODE	ss3709177153	Jul 13, 2019 (153)
13	PACBIO	ss3789823921	Jul 13, 2019 (153)
14	PACBIO	ss3794697853	Jul 13, 2019 (153)
15	EVA	ss3827797297	Apr 25, 2020 (154)
16	GNOMAD	ss4070577072	Apr 27, 2021 (155)
17	GNOMAD	ss4070577073	Apr 27, 2021 (155)
18	GNOMAD	ss4070577074	Apr 27, 2021 (155)
19	GNOMAD	ss4070577075	Apr 27, 2021 (155)
20	GNOMAD	ss4070577076	Apr 27, 2021 (155)
21	GNOMAD	ss4070577077	Apr 27, 2021 (155)
22	GNOMAD	ss4070577078	Apr 27, 2021 (155)
23	GNOMAD	ss4070577079	Apr 27, 2021 (155)
24	GNOMAD	ss4070577080	Apr 27, 2021 (155)
25	GNOMAD	ss4070577081	Apr 27, 2021 (155)
26	GNOMAD	ss4070577082	Apr 27, 2021 (155)
27	GNOMAD	ss4070577083	Apr 27, 2021 (155)
28	GNOMAD	ss4070577084	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5159027059	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5159027060	Apr 27, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5253990980	Oct 12, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5253990982	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5253990983	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5253990984	Oct 12, 2022 (156)
35	HUGCELL_USP	ss5453391876	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5453391877	Oct 12, 2022 (156)
37	HUGCELL_USP	ss5453391878	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5690647919	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5690647920	Oct 12, 2022 (156)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 106961371 (NC_000003.12:49180929::A 273/60236) Row 106961372 (NC_000003.12:49180929::AA 74/60310) Row 106961373 (NC_000003.12:49180929::AAA 8/60398)...	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 16996366 (NC_000003.11:49218362:A: 8988/15262) Row 16996367 (NC_000003.11:49218362:AA: 454/15262)	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 16996366 (NC_000003.11:49218362:A: 8988/15262) Row 16996367 (NC_000003.11:49218362:AA: 454/15262)	-	Apr 27, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 24485023 (NC_000003.12:49180929:A: 19501/27094) Row 24485024 (NC_000003.12:49180929:AA: 994/27094)	-	Oct 12, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 24485023 (NC_000003.12:49180929:A: 19501/27094) Row 24485024 (NC_000003.12:49180929:AA: 994/27094)	-	Oct 12, 2022 (156)
57	ALFA	NC_000003.12 - 49180930	Apr 27, 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)
rs71627371	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4070577084	NC_000003.12:49180929:AAAAAAAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4070577083	NC_000003.12:49180929:AAAAAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4070577082	NC_000003.12:49180929:AAAAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4070577081	NC_000003.12:49180929:AAAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2992269561	NC_000003.11:49218362:AAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3709177153, ss4070577080, ss5253990984, ss5453391878	NC_000003.12:49180929:AAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4070577079	NC_000003.12:49180929:AAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4070577078, ss5253990982	NC_000003.12:49180929:AAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3709177152	NC_000003.12:49180931:AAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss295099249	NC_000003.10:49193366:AA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5159027060	NC_000003.11:49218362:AA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5253990980, ss5453391877, ss5690647920	NC_000003.12:49180929:AA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3709177151	NC_000003.12:49180932:AA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss99166173	NT_022517.18:49158382:AA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss81044775, ss81539719	NC_000003.9:49193387:A:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss295099250	NC_000003.10:49193387:A:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3789823921, ss3794697853, ss3827797297, ss5159027059	NC_000003.11:49218362:A:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5453391876, ss5690647919	NC_000003.12:49180929:A:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3709177150	NC_000003.12:49180933:A:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss99166173	NT_022517.18:49158382:AA:A	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss95316862	NT_022517.18:49158383:A:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4070577072, ss5253990983	NC_000003.12:49180929::A	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3709177149	NC_000003.12:49180934::A	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070577073	NC_000003.12:49180929::AA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
10083867720	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070577074	NC_000003.12:49180929::AAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070577075	NC_000003.12:49180929::AAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070577076	NC_000003.12:49180929::AAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4070577077	NC_000003.12:49180929::AAAAAA	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3389798976	NC_000003.12:49180929:AAAAAAAAA:	NC_000003.12:49180929:AAAAAAAAAAAA… NC_000003.12:49180929:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs59290830

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

rs59290830