Name: rs58836347
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.

rs58836347

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:1185709-1185719 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / ins(A)₁₂ / ins(A)₁₃ / ins(A)₁₄ / ins(A)₁₅ / ins(A)₁₆ / ins(A)₁₇ / ins(A)₂₃ / ins(A)₂₄
Variation Type: Indel Insertion and Deletion
Frequency: delAAA=0.000 (0/572, ALFA)
delAA=0.000 (0/572, ALFA)
delA=0.000 (0/572, ALFA) (+ 18 more)
dupA=0.000 (0/572, ALFA)
dupAA=0.000 (0/572, ALFA)
dupAAA=0.000 (0/572, ALFA)
dup(A)₄=0.000 (0/572, ALFA)
dup(A)₅=0.000 (0/572, ALFA)
dup(A)₆=0.000 (0/572, ALFA)
dup(A)₇=0.000 (0/572, ALFA)
dup(A)₈=0.000 (0/572, ALFA)
dup(A)₉=0.000 (0/572, ALFA)
dup(A)₁₀=0.000 (0/572, ALFA)
dup(A)₁₁=0.000 (0/572, ALFA)
ins(A)₁₂=0.000 (0/572, ALFA)
ins(A)₁₃=0.000 (0/572, ALFA)
ins(A)₁₄=0.000 (0/572, ALFA)
ins(A)₁₅=0.000 (0/572, ALFA)
ins(A)₁₆=0.000 (0/572, ALFA)
ins(A)₁₇=0.000 (0/572, ALFA)
ins(A)₁₃=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SPON2 : Intron Variant
LOC124900647 : 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	572	AAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	58	AAAAAAAAAAA=1.00	AAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	490	AAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	28	AAAAAAAAAAA=1.00	AAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	462	AAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	4	AAAAAAAAAAA=1.0	AAAAAAAA=0.0, 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, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	4	AAAAAAAAAAA=1.0	AAAAAAAA=0.0, 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, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	16	AAAAAAAAAAA=1.00	AAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=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	572	(A)₁₁=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000, dup(A)₁₁=0.000, ins(A)₁₂=0.000, ins(A)₁₃=0.000, ins(A)₁₄=0.000, ins(A)₁₅=0.000, ins(A)₁₆=0.000, ins(A)₁₇=0.000
Allele Frequency Aggregator	African	Sub	490	(A)₁₁=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000, dup(A)₁₁=0.000, ins(A)₁₂=0.000, ins(A)₁₃=0.000, ins(A)₁₄=0.000, ins(A)₁₅=0.000, ins(A)₁₆=0.000, ins(A)₁₇=0.000
Allele Frequency Aggregator	European	Sub	58	(A)₁₁=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00, dup(A)₁₁=0.00, ins(A)₁₂=0.00, ins(A)₁₃=0.00, ins(A)₁₄=0.00, ins(A)₁₅=0.00, ins(A)₁₆=0.00, ins(A)₁₇=0.00
Allele Frequency Aggregator	Other	Sub	16	(A)₁₁=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00, dup(A)₁₁=0.00, ins(A)₁₂=0.00, ins(A)₁₃=0.00, ins(A)₁₄=0.00, ins(A)₁₅=0.00, ins(A)₁₆=0.00, ins(A)₁₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₁₁=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0, dup(A)₇=0.0, dup(A)₈=0.0, dup(A)₉=0.0, dup(A)₁₀=0.0, dup(A)₁₁=0.0, ins(A)₁₂=0.0, ins(A)₁₃=0.0, ins(A)₁₄=0.0, ins(A)₁₅=0.0, ins(A)₁₆=0.0, ins(A)₁₇=0.0
Allele Frequency Aggregator	Latin American 2	Sub	4	(A)₁₁=1.0	delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0, dup(A)₇=0.0, dup(A)₈=0.0, dup(A)₉=0.0, dup(A)₁₀=0.0, dup(A)₁₁=0.0, ins(A)₁₂=0.0, ins(A)₁₃=0.0, ins(A)₁₄=0.0, ins(A)₁₅=0.0, ins(A)₁₆=0.0, ins(A)₁₇=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₁=0	delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0, dup(A)₈=0, dup(A)₉=0, dup(A)₁₀=0, dup(A)₁₁=0, ins(A)₁₂=0, ins(A)₁₃=0, ins(A)₁₄=0, ins(A)₁₅=0, ins(A)₁₆=0, ins(A)₁₇=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₁=0	delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0, dup(A)₈=0, dup(A)₉=0, dup(A)₁₀=0, dup(A)₁₁=0, ins(A)₁₂=0, ins(A)₁₃=0, ins(A)₁₄=0, ins(A)₁₅=0, ins(A)₁₆=0, ins(A)₁₇=0
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	ins(A)₁₃=0.47

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 4	NC_000004.12:g.1185717_1185719del
GRCh38.p14 chr 4	NC_000004.12:g.1185718_1185719del
GRCh38.p14 chr 4	NC_000004.12:g.1185719del
GRCh38.p14 chr 4	NC_000004.12:g.1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185718_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185717_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185716_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185715_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185714_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185713_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185712_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185711_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185710_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185709_1185719dup
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 4	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179505_1179507del
GRCh37.p13 chr 4	NC_000004.11:g.1179506_1179507del
GRCh37.p13 chr 4	NC_000004.11:g.1179507del
GRCh37.p13 chr 4	NC_000004.11:g.1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179506_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179505_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179504_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179503_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179502_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179501_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179500_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179499_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179498_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179497_1179507dup
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAAAAAAAAA

Gene: SPON2, spondin 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPON2 transcript variant 3	NM_001199021.2:c.-238-617… NM_001199021.2:c.-238-6170_-238-6168del	N/A	Intron Variant
SPON2 transcript variant 2	NM_001128325.3:c.	N/A	Genic Upstream Transcript Variant
SPON2 transcript variant 1	NM_012445.4:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124900647, uncharacterized LOC124900647 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124900647 transcript variant X1	XM_047416477.1:c.-2486-53… XM_047416477.1:c.-2486-5383_-2486-5381del	N/A	Intron Variant
LOC124900647 transcript variant X2	XM_047416478.1: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)₁₁=	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	ins(A)₁₂	ins(A)₁₃	ins(A)₁₄	ins(A)₁₅	ins(A)₁₆	ins(A)₁₇	ins(A)₂₃	ins(A)₂₄
GRCh38.p14 chr 4	NC_000004.12:g.1185709_1185719=	NC_000004.12:g.1185717_1185719del	NC_000004.12:g.1185718_1185719del	NC_000004.12:g.1185719del	NC_000004.12:g.1185719dup	NC_000004.12:g.1185718_1185719dup	NC_000004.12:g.1185717_1185719dup	NC_000004.12:g.1185716_1185719dup	NC_000004.12:g.1185715_1185719dup	NC_000004.12:g.1185714_1185719dup	NC_000004.12:g.1185713_1185719dup	NC_000004.12:g.1185712_1185719dup	NC_000004.12:g.1185711_1185719dup	NC_000004.12:g.1185710_1185719dup	NC_000004.12:g.1185709_1185719dup	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:g.1185719_1185720insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.1179497_1179507=	NC_000004.11:g.1179505_1179507del	NC_000004.11:g.1179506_1179507del	NC_000004.11:g.1179507del	NC_000004.11:g.1179507dup	NC_000004.11:g.1179506_1179507dup	NC_000004.11:g.1179505_1179507dup	NC_000004.11:g.1179504_1179507dup	NC_000004.11:g.1179503_1179507dup	NC_000004.11:g.1179502_1179507dup	NC_000004.11:g.1179501_1179507dup	NC_000004.11:g.1179500_1179507dup	NC_000004.11:g.1179499_1179507dup	NC_000004.11:g.1179498_1179507dup	NC_000004.11:g.1179497_1179507dup	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.11:g.1179507_1179508insAAAAAAAAAAAAAAAAAAAAAAAA
SPON2 transcript variant 3	NM_001199021.1:c.-238-6168=	NM_001199021.1:c.-238-6170_-238-6168del	NM_001199021.1:c.-238-6169_-238-6168del	NM_001199021.1:c.-238-6168del	NM_001199021.1:c.-238-6168dup	NM_001199021.1:c.-238-6169_-238-6168dup	NM_001199021.1:c.-238-6170_-238-6168dup	NM_001199021.1:c.-238-6171_-238-6168dup	NM_001199021.1:c.-238-6172_-238-6168dup	NM_001199021.1:c.-238-6173_-238-6168dup	NM_001199021.1:c.-238-6174_-238-6168dup	NM_001199021.1:c.-238-6175_-238-6168dup	NM_001199021.1:c.-238-6176_-238-6168dup	NM_001199021.1:c.-238-6177_-238-6168dup	NM_001199021.1:c.-238-6178_-238-6168dup	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTTTTTTTTT	NM_001199021.1:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTTTTTTTTTT
SPON2 transcript variant 3	NM_001199021.2:c.-238-6168=	NM_001199021.2:c.-238-6170_-238-6168del	NM_001199021.2:c.-238-6169_-238-6168del	NM_001199021.2:c.-238-6168del	NM_001199021.2:c.-238-6168dup	NM_001199021.2:c.-238-6169_-238-6168dup	NM_001199021.2:c.-238-6170_-238-6168dup	NM_001199021.2:c.-238-6171_-238-6168dup	NM_001199021.2:c.-238-6172_-238-6168dup	NM_001199021.2:c.-238-6173_-238-6168dup	NM_001199021.2:c.-238-6174_-238-6168dup	NM_001199021.2:c.-238-6175_-238-6168dup	NM_001199021.2:c.-238-6176_-238-6168dup	NM_001199021.2:c.-238-6177_-238-6168dup	NM_001199021.2:c.-238-6178_-238-6168dup	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTTTTTTTTT	NM_001199021.2:c.-238-6168_-238-6167insTTTTTTTTTTTTTTTTTTTTTTTT
LOC124900647 transcript variant X1	XM_047416477.1:c.-2486-5391=	XM_047416477.1:c.-2486-5383_-2486-5381del	XM_047416477.1:c.-2486-5382_-2486-5381del	XM_047416477.1:c.-2486-5381del	XM_047416477.1:c.-2486-5381dup	XM_047416477.1:c.-2486-5382_-2486-5381dup	XM_047416477.1:c.-2486-5383_-2486-5381dup	XM_047416477.1:c.-2486-5384_-2486-5381dup	XM_047416477.1:c.-2486-5385_-2486-5381dup	XM_047416477.1:c.-2486-5386_-2486-5381dup	XM_047416477.1:c.-2486-5387_-2486-5381dup	XM_047416477.1:c.-2486-5388_-2486-5381dup	XM_047416477.1:c.-2486-5389_-2486-5381dup	XM_047416477.1:c.-2486-5390_-2486-5381dup	XM_047416477.1:c.-2486-5391_-2486-5381dup	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAAAAAAAAAAAA	XM_047416477.1:c.-2486-5381_-2486-5380insAAAAAAAAAAAAAAAAAAAAAAAA

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#.

53 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81103540	Dec 15, 2007 (129)
2	HUMANGENOME_JCVI	ss95344092	Feb 06, 2009 (130)
3	BCMHGSC_JDW	ss103876023	Oct 12, 2018 (152)
4	EVA_GENOME_DK	ss1578145706	Apr 01, 2015 (144)
5	SWEGEN	ss2993985940	Nov 08, 2017 (151)
6	SWEGEN	ss2993985941	Nov 08, 2017 (151)
7	SWEGEN	ss2993985942	Nov 08, 2017 (151)
8	SWEGEN	ss2993985943	Nov 08, 2017 (151)
9	SWEGEN	ss2993985944	Nov 08, 2017 (151)
10	MCHAISSO	ss3064085440	Nov 08, 2017 (151)
11	MCHAISSO	ss3064950017	Nov 08, 2017 (151)
12	MCHAISSO	ss3065929038	Nov 08, 2017 (151)
13	EVA_DECODE	ss3711228235	Jul 13, 2019 (153)
14	EVA_DECODE	ss3711228236	Jul 13, 2019 (153)
15	EVA_DECODE	ss3711228237	Jul 13, 2019 (153)
16	EVA_DECODE	ss3711228238	Jul 13, 2019 (153)
17	EVA_DECODE	ss3711228239	Jul 13, 2019 (153)
18	PACBIO	ss3784593548	Jul 13, 2019 (153)
19	PACBIO	ss3790067183	Jul 13, 2019 (153)
20	PACBIO	ss3794942235	Jul 13, 2019 (153)
21	EVA	ss3828324016	Apr 25, 2020 (154)
22	GNOMAD	ss4089193665	Apr 26, 2021 (155)
23	GNOMAD	ss4089193666	Apr 26, 2021 (155)
24	GNOMAD	ss4089193667	Apr 26, 2021 (155)
25	GNOMAD	ss4089193668	Apr 26, 2021 (155)
26	GNOMAD	ss4089193669	Apr 26, 2021 (155)
27	GNOMAD	ss4089193670	Apr 26, 2021 (155)
28	GNOMAD	ss4089193671	Apr 26, 2021 (155)
29	GNOMAD	ss4089193672	Apr 26, 2021 (155)
30	GNOMAD	ss4089193673	Apr 26, 2021 (155)
31	GNOMAD	ss4089193674	Apr 26, 2021 (155)
32	GNOMAD	ss4089193682	Apr 26, 2021 (155)
33	GNOMAD	ss4089193683	Apr 26, 2021 (155)
34	GNOMAD	ss4089193684	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5163798017	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5163798018	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5163798019	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5163798020	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5163798021	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5163798022	Apr 26, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5257727424	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5257727425	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5257727426	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5456683809	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5456683810	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5456683811	Oct 13, 2022 (156)
47	TOMMO_GENOMICS	ss5697326317	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5697326318	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5697326319	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5697326320	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5697326321	Oct 13, 2022 (156)
52	TOMMO_GENOMICS	ss5697326322	Oct 13, 2022 (156)
53	EVA	ss5980199990	Oct 13, 2022 (156)
54	The Danish reference pan genome	NC_000004.11 - 1179497	Apr 25, 2020 (154)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 137792504 (NC_000004.12:1185708::A 7/66228) Row 137792505 (NC_000004.12:1185708::AA 2/66230) Row 137792506 (NC_000004.12:1185708::AAA 4/66230)...	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 21767324 (NC_000004.11:1179496::AAAAAAAA 421/13386) Row 21767325 (NC_000004.11:1179496::AAAAAAAAAAA 5561/13386) Row 21767326 (NC_000004.11:1179496::AAAAAAAAAAAAAA 4018/13386)...	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 21767324 (NC_000004.11:1179496::AAAAAAAA 421/13386) Row 21767325 (NC_000004.11:1179496::AAAAAAAAAAA 5561/13386) Row 21767326 (NC_000004.11:1179496::AAAAAAAAAAAAAA 4018/13386)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 21767324 (NC_000004.11:1179496::AAAAAAAA 421/13386) Row 21767325 (NC_000004.11:1179496::AAAAAAAAAAA 5561/13386) Row 21767326 (NC_000004.11:1179496::AAAAAAAAAAAAAA 4018/13386)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 21767324 (NC_000004.11:1179496::AAAAAAAA 421/13386) Row 21767325 (NC_000004.11:1179496::AAAAAAAAAAA 5561/13386) Row 21767326 (NC_000004.11:1179496::AAAAAAAAAAAAAA 4018/13386)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 21767324 (NC_000004.11:1179496::AAAAAAAA 421/13386) Row 21767325 (NC_000004.11:1179496::AAAAAAAAAAA 5561/13386) Row 21767326 (NC_000004.11:1179496::AAAAAAAAAAAAAA 4018/13386)...	-	Apr 26, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 21767324 (NC_000004.11:1179496::AAAAAAAA 421/13386) Row 21767325 (NC_000004.11:1179496::AAAAAAAAAAA 5561/13386) Row 21767326 (NC_000004.11:1179496::AAAAAAAAAAAAAA 4018/13386)...	-	Apr 26, 2021 (155)
74	14KJPN Submission ignored due to conflicting rows: Row 31163421 (NC_000004.12:1185708::AAAAAAAA 674/23628) Row 31163422 (NC_000004.12:1185708::AAAAAAAAAAA 10134/23628) Row 31163423 (NC_000004.12:1185708::AAAAAAAAAAAAAA 6304/23628)...	-	Oct 13, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 31163421 (NC_000004.12:1185708::AAAAAAAA 674/23628) Row 31163422 (NC_000004.12:1185708::AAAAAAAAAAA 10134/23628) Row 31163423 (NC_000004.12:1185708::AAAAAAAAAAAAAA 6304/23628)...	-	Oct 13, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 31163421 (NC_000004.12:1185708::AAAAAAAA 674/23628) Row 31163422 (NC_000004.12:1185708::AAAAAAAAAAA 10134/23628) Row 31163423 (NC_000004.12:1185708::AAAAAAAAAAAAAA 6304/23628)...	-	Oct 13, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 31163421 (NC_000004.12:1185708::AAAAAAAA 674/23628) Row 31163422 (NC_000004.12:1185708::AAAAAAAAAAA 10134/23628) Row 31163423 (NC_000004.12:1185708::AAAAAAAAAAAAAA 6304/23628)...	-	Oct 13, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 31163421 (NC_000004.12:1185708::AAAAAAAA 674/23628) Row 31163422 (NC_000004.12:1185708::AAAAAAAAAAA 10134/23628) Row 31163423 (NC_000004.12:1185708::AAAAAAAAAAAAAA 6304/23628)...	-	Oct 13, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 31163421 (NC_000004.12:1185708::AAAAAAAA 674/23628) Row 31163422 (NC_000004.12:1185708::AAAAAAAAAAA 10134/23628) Row 31163423 (NC_000004.12:1185708::AAAAAAAAAAAAAA 6304/23628)...	-	Oct 13, 2022 (156)
80	ALFA	NC_000004.12 - 1185709	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4089193684	NC_000004.12:1185708:AAA:	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAA	(self)
ss4089193683	NC_000004.12:1185708:AA:	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAA	(self)
ss4089193682	NC_000004.12:1185708:A:	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss4089193665	NC_000004.12:1185708::A	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4089193666	NC_000004.12:1185708::AA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4089193667	NC_000004.12:1185708::AAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4089193668, ss5257727426	NC_000004.12:1185708::AAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4089193669	NC_000004.12:1185708::AAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4089193670	NC_000004.12:1185708::AAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5163798017	NC_000004.11:1179496::AAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5697326317	NC_000004.12:1185708::AAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss103876023	NT_037622.5:1169503::AAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3784593548, ss5163798022, ss5980199990	NC_000004.11:1179496::AAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5697326320	NC_000004.12:1185708::AAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss2993985940, ss5163798018	NC_000004.11:1179496::AAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064085440, ss4089193671, ss5456683811, ss5697326318	NC_000004.12:1185708::AAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss81103540	NT_037622.5:1169507::AAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss2993985941, ss3828324016	NC_000004.11:1179496::AAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064950017, ss3065929038, ss3711228239, ss5257727425, ss5456683809	NC_000004.12:1185708::AAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
76512, ss1578145706, ss2993985942, ss3790067183, ss3794942235, ss5163798020	NC_000004.11:1179496::AAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3711228238, ss4089193672, ss5456683810, ss5697326321	NC_000004.12:1185708::AAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95344092	NT_037622.5:1169507::AAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss2993985943, ss5163798019	NC_000004.11:1179496::AAAAAAAAAAAA… NC_000004.11:1179496::AAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3711228237, ss5697326319	NC_000004.12:1185708::AAAAAAAAAAAA… NC_000004.12:1185708::AAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss2993985944, ss5163798021	NC_000004.11:1179496::AAAAAAAAAAAA… NC_000004.11:1179496::AAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3711228236, ss5257727424, ss5697326322	NC_000004.12:1185708::AAAAAAAAAAAA… NC_000004.12:1185708::AAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3711228235	NC_000004.12:1185708::AAAAAAAAAAAA… NC_000004.12:1185708::AAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3096749714	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4089193673	NC_000004.12:1185708::AAAAAAAAAAAA… NC_000004.12:1185708::AAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4089193674	NC_000004.12:1185708::AAAAAAAAAAAA… NC_000004.12:1185708::AAAAAAAAAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3418107365	NC_000004.12:1185708::AAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
ss3418107367	NC_000004.12:1185708::AAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
ss3418107375	NC_000004.12:1185708::AAAAAAAAAAAA… NC_000004.12:1185708::AAAAAAAAAAAAAAAAA	NC_000004.12:1185708:AAAAAAAAAAA:A… NC_000004.12:1185708:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs58836347

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

rs58836347