Name: rs556230875
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.

rs556230875

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:110158740-110158759 (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(T)₁₀ / del(T)₆ / del(T)₅ / del…
del(T)₁₀ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / ins(T)₄A(T)₈AAATATTT(A)₄GAAATAA(T)₂₁ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₁ / ins(T)₄₁ / ins(T)₄₅
Variation Type: Indel Insertion and Deletion
Frequency: (T)₂₀=0.4099 (2053/5008, 1000G)
(T)₂₀=0.3910 (1812/4634, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: COL4A1 : 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	4634	TTTTTTTTTTTTTTTTTTTT=0.3910	TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0043, TTTTTTTTTTTTTTTTTTT=0.4724, TTTTTTTTTTTTTTTTTTTTTT=0.0367, TTTTTTTTTTTTTTTTTTTTTTT=0.0911, TTTTTTTTTTTTTTTTTTTTTTTT=0.0017, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0028, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.248175	0.27288	0.478944	2
European	Sub	4522	TTTTTTTTTTTTTTTTTTTT=0.3768	TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0044, TTTTTTTTTTTTTTTTTTT=0.4834, TTTTTTTTTTTTTTTTTTTTTT=0.0376, TTTTTTTTTTTTTTTTTTTTTTT=0.0931, TTTTTTTTTTTTTTTTTTTTTTTT=0.0018, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.224797	0.280997	0.494206	0
African	Sub	44	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	44	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	52	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	14	TTTTTTTTTTTTTTTTTTTT=0.71	TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.21, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.833333	0.166667	0.0	4

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
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.4099	delT=0.5901
1000Genomes	African	Sub	1322	(T)₂₀=0.4818	delT=0.5182
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.3909	delT=0.6091
1000Genomes	Europe	Sub	1006	(T)₂₀=0.3817	delT=0.6183
1000Genomes	South Asian	Sub	978	(T)₂₀=0.333	delT=0.667
1000Genomes	American	Sub	694	(T)₂₀=0.450	delT=0.550
Allele Frequency Aggregator	Total	Global	4634	(T)₂₀=0.3910	del(T)₁₀=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0043, delT=0.4724, dupT=0.0000, dupTT=0.0367, dupTTT=0.0911, dup(T)₄=0.0017, dup(T)₅=0.0028, dup(T)₆=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	European	Sub	4522	(T)₂₀=0.3768	del(T)₁₀=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0044, delT=0.4834, dupT=0.0000, dupTT=0.0376, dupTTT=0.0931, dup(T)₄=0.0018, dup(T)₅=0.0029, dup(T)₆=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	52	(T)₂₀=1.00	del(T)₁₀=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	African	Sub	44	(T)₂₀=1.00	del(T)₁₀=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Other	Sub	14	(T)₂₀=0.71	del(T)₁₀=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.21, dupT=0.00, dupTT=0.00, dupTTT=0.07, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₂₀=1.0	del(T)₁₀=0.0, del(T)₆=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₂₀=0	del(T)₁₀=0, del(T)₆=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₆=0, dup(T)₇=0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₀=0	del(T)₁₀=0, del(T)₆=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₆=0, dup(T)₇=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 13	NC_000013.11:g.110158750_110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158754_110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158755_110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158756_110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158757_110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158758_110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158759del
GRCh38.p14 chr 13	NC_000013.11:g.110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158758_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158757_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158756_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158740_110158759T[24]ATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 13	NC_000013.11:g.110158755_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158754_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158753_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158752_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158751_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158749_110158759dup
GRCh38.p14 chr 13	NC_000013.11:g.110158759_110158760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 13	NC_000013.11:g.110158759_110158760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 13	NC_000013.10:g.110811097_110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811101_110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811102_110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811103_110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811104_110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811105_110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811106del
GRCh37.p13 chr 13	NC_000013.10:g.110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811105_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811104_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811103_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811087_110811106T[24]ATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 13	NC_000013.10:g.110811102_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811101_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811100_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811099_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811098_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811096_110811106dup
GRCh37.p13 chr 13	NC_000013.10:g.110811106_110811107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 13	NC_000013.10:g.110811106_110811107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153401_153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153405_153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153406_153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153407_153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153408_153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153409_153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153410del
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153409_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153408_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153407_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153391_153410A[21]TTATTTCTTTTAAATATTTAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1]
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153406_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153405_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153404_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153403_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153402_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153400_153410dup
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153410_153411insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153410_153411insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: COL4A1, collagen type IV alpha 1 chain (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COL4A1 transcript variant 1	NM_001845.6:c.4640+2443_4… NM_001845.6:c.4640+2443_4640+2452del	N/A	Intron Variant
COL4A1 transcript variant 2	NM_001303110.2:c.	N/A	Genic Downstream 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	(T)₂₀=	del(T)₁₀	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	ins(T)₄A(T)₈AAATATTT(A)₄GAAATAA(T)₂₁	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₁	ins(T)₄₁	ins(T)₄₅
GRCh38.p14 chr 13	NC_000013.11:g.110158740_110158759=	NC_000013.11:g.110158750_110158759del	NC_000013.11:g.110158754_110158759del	NC_000013.11:g.110158755_110158759del	NC_000013.11:g.110158756_110158759del	NC_000013.11:g.110158757_110158759del	NC_000013.11:g.110158758_110158759del	NC_000013.11:g.110158759del	NC_000013.11:g.110158759dup	NC_000013.11:g.110158758_110158759dup	NC_000013.11:g.110158757_110158759dup	NC_000013.11:g.110158756_110158759dup	NC_000013.11:g.110158740_110158759T[24]ATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.11:g.110158755_110158759dup	NC_000013.11:g.110158754_110158759dup	NC_000013.11:g.110158753_110158759dup	NC_000013.11:g.110158752_110158759dup	NC_000013.11:g.110158751_110158759dup	NC_000013.11:g.110158749_110158759dup	NC_000013.11:g.110158759_110158760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:g.110158759_110158760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 13	NC_000013.10:g.110811087_110811106=	NC_000013.10:g.110811097_110811106del	NC_000013.10:g.110811101_110811106del	NC_000013.10:g.110811102_110811106del	NC_000013.10:g.110811103_110811106del	NC_000013.10:g.110811104_110811106del	NC_000013.10:g.110811105_110811106del	NC_000013.10:g.110811106del	NC_000013.10:g.110811106dup	NC_000013.10:g.110811105_110811106dup	NC_000013.10:g.110811104_110811106dup	NC_000013.10:g.110811103_110811106dup	NC_000013.10:g.110811087_110811106T[24]ATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT[1]	NC_000013.10:g.110811102_110811106dup	NC_000013.10:g.110811101_110811106dup	NC_000013.10:g.110811100_110811106dup	NC_000013.10:g.110811099_110811106dup	NC_000013.10:g.110811098_110811106dup	NC_000013.10:g.110811096_110811106dup	NC_000013.10:g.110811106_110811107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.10:g.110811106_110811107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.153391_153410=	NG_011544.2:g.153401_153410del	NG_011544.2:g.153405_153410del	NG_011544.2:g.153406_153410del	NG_011544.2:g.153407_153410del	NG_011544.2:g.153408_153410del	NG_011544.2:g.153409_153410del	NG_011544.2:g.153410del	NG_011544.2:g.153410dup	NG_011544.2:g.153409_153410dup	NG_011544.2:g.153408_153410dup	NG_011544.2:g.153407_153410dup	NG_011544.2:g.153391_153410A[21]TTATTTCTTTTAAATATTTAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1]	NG_011544.2:g.153406_153410dup	NG_011544.2:g.153405_153410dup	NG_011544.2:g.153404_153410dup	NG_011544.2:g.153403_153410dup	NG_011544.2:g.153402_153410dup	NG_011544.2:g.153400_153410dup	NG_011544.2:g.153410_153411insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NG_011544.2:g.153410_153411insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
COL4A1 transcript	NM_001845.4:c.4640+2452=	NM_001845.4:c.4640+2443_4640+2452del	NM_001845.4:c.4640+2447_4640+2452del	NM_001845.4:c.4640+2448_4640+2452del	NM_001845.4:c.4640+2449_4640+2452del	NM_001845.4:c.4640+2450_4640+2452del	NM_001845.4:c.4640+2451_4640+2452del	NM_001845.4:c.4640+2452del	NM_001845.4:c.4640+2452dup	NM_001845.4:c.4640+2451_4640+2452dup	NM_001845.4:c.4640+2450_4640+2452dup	NM_001845.4:c.4640+2449_4640+2452dup	NM_001845.4:c.4640+2452_4640+2453insAAAAAAAAAAAAAAAAAAAAATTATTTCTTTTAAATATTTAAAAAAAATAAAA	NM_001845.4:c.4640+2448_4640+2452dup	NM_001845.4:c.4640+2447_4640+2452dup	NM_001845.4:c.4640+2446_4640+2452dup	NM_001845.4:c.4640+2445_4640+2452dup	NM_001845.4:c.4640+2444_4640+2452dup	NM_001845.4:c.4640+2442_4640+2452dup	NM_001845.4:c.4640+2452_4640+2453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001845.4:c.4640+2452_4640+2453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
COL4A1 transcript variant 1	NM_001845.6:c.4640+2452=	NM_001845.6:c.4640+2443_4640+2452del	NM_001845.6:c.4640+2447_4640+2452del	NM_001845.6:c.4640+2448_4640+2452del	NM_001845.6:c.4640+2449_4640+2452del	NM_001845.6:c.4640+2450_4640+2452del	NM_001845.6:c.4640+2451_4640+2452del	NM_001845.6:c.4640+2452del	NM_001845.6:c.4640+2452dup	NM_001845.6:c.4640+2451_4640+2452dup	NM_001845.6:c.4640+2450_4640+2452dup	NM_001845.6:c.4640+2449_4640+2452dup	NM_001845.6:c.4640+2452_4640+2453insAAAAAAAAAAAAAAAAAAAAATTATTTCTTTTAAATATTTAAAAAAAATAAAA	NM_001845.6:c.4640+2448_4640+2452dup	NM_001845.6:c.4640+2447_4640+2452dup	NM_001845.6:c.4640+2446_4640+2452dup	NM_001845.6:c.4640+2445_4640+2452dup	NM_001845.6:c.4640+2444_4640+2452dup	NM_001845.6:c.4640+2442_4640+2452dup	NM_001845.6:c.4640+2452_4640+2453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001845.6:c.4640+2452_4640+2453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

69 SubSNP, 40 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947323316	Aug 21, 2014 (142)
2	1000GENOMES	ss1373701086	Aug 21, 2014 (142)
3	EVA_UK10K_ALSPAC	ss1707952723	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1707952730	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1710623657	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1710623659	Jan 10, 2018 (151)
7	EVA_UK10K_TWINSUK	ss1710623672	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710623673	Jan 10, 2018 (151)
9	SWEGEN	ss3011718712	Nov 08, 2017 (151)
10	MCHAISSO	ss3064616359	Nov 08, 2017 (151)
11	EVA_DECODE	ss3696140231	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696140232	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696140233	Jul 13, 2019 (153)
14	EVA_DECODE	ss3696140234	Jul 13, 2019 (153)
15	EVA_DECODE	ss3696140235	Jul 13, 2019 (153)
16	EVA_DECODE	ss3696140236	Jul 13, 2019 (153)
17	ACPOP	ss3740136286	Jul 13, 2019 (153)
18	ACPOP	ss3740136287	Jul 13, 2019 (153)
19	ACPOP	ss3740136288	Jul 13, 2019 (153)
20	PACBIO	ss3787584336	Jul 13, 2019 (153)
21	PACBIO	ss3792633808	Jul 13, 2019 (153)
22	PACBIO	ss3797517775	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3817323262	Jul 13, 2019 (153)
24	EVA	ss3833775411	Apr 27, 2020 (154)
25	GNOMAD	ss4273337402	Apr 26, 2021 (155)
26	GNOMAD	ss4273337403	Apr 26, 2021 (155)
27	GNOMAD	ss4273337404	Apr 26, 2021 (155)
28	GNOMAD	ss4273337405	Apr 26, 2021 (155)
29	GNOMAD	ss4273337406	Apr 26, 2021 (155)
30	GNOMAD	ss4273337407	Apr 26, 2021 (155)
31	GNOMAD	ss4273337408	Apr 26, 2021 (155)
32	GNOMAD	ss4273337409	Apr 26, 2021 (155)
33	GNOMAD	ss4273337410	Apr 26, 2021 (155)
34	GNOMAD	ss4273337411	Apr 26, 2021 (155)
35	GNOMAD	ss4273337412	Apr 26, 2021 (155)
36	GNOMAD	ss4273337414	Apr 26, 2021 (155)
37	GNOMAD	ss4273337415	Apr 26, 2021 (155)
38	GNOMAD	ss4273337416	Apr 26, 2021 (155)
39	GNOMAD	ss4273337417	Apr 26, 2021 (155)
40	GNOMAD	ss4273337418	Apr 26, 2021 (155)
41	GNOMAD	ss4273337419	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5211912335	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5211912336	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5211912337	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5211912338	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5211912339	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5211912340	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5295222357	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5295222358	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5295222359	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5295222360	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5295222361	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5295222362	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5489438792	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5489438793	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5489438794	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5489438795	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5764313430	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5764313431	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5764313432	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5764313433	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5764313434	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5764313435	Oct 16, 2022 (156)
64	EVA	ss5840068903	Oct 16, 2022 (156)
65	EVA	ss5840068904	Oct 16, 2022 (156)
66	EVA	ss5840068905	Oct 16, 2022 (156)
67	EVA	ss5840068906	Oct 16, 2022 (156)
68	EVA	ss5850918762	Oct 16, 2022 (156)
69	EVA	ss5926813606	Oct 16, 2022 (156)
70	1000Genomes	NC_000013.10 - 110811087	Oct 12, 2018 (152)
71	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 34932607 (NC_000013.10:110811087:T: 1460/3854) Row 34932608 (NC_000013.10:110811086:TTT: 329/3854)	-	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 34932607 (NC_000013.10:110811087:T: 1460/3854) Row 34932608 (NC_000013.10:110811086:TTT: 329/3854)	-	Oct 12, 2018 (152)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 443199838 (NC_000013.11:110158739::T 167/96992) Row 443199839 (NC_000013.11:110158739::TT 6479/97004) Row 443199840 (NC_000013.11:110158739::TTT 21808/96848)...	-	Apr 26, 2021 (155)
91	Northern Sweden Submission ignored due to conflicting rows: Row 13421151 (NC_000013.10:110811086:T: 218/594) Row 13421152 (NC_000013.10:110811086::TTT 28/594) Row 13421153 (NC_000013.10:110811086::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/594)	-	Jul 13, 2019 (153)
92	Northern Sweden Submission ignored due to conflicting rows: Row 13421151 (NC_000013.10:110811086:T: 218/594) Row 13421152 (NC_000013.10:110811086::TTT 28/594) Row 13421153 (NC_000013.10:110811086::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/594)	-	Jul 13, 2019 (153)
93	Northern Sweden Submission ignored due to conflicting rows: Row 13421151 (NC_000013.10:110811086:T: 218/594) Row 13421152 (NC_000013.10:110811086::TTT 28/594) Row 13421153 (NC_000013.10:110811086::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 1/594)	-	Jul 13, 2019 (153)
94	8.3KJPN Submission ignored due to conflicting rows: Row 69881642 (NC_000013.10:110811086:T: 9763/16612) Row 69881643 (NC_000013.10:110811086::TTT 1760/16612) Row 69881644 (NC_000013.10:110811086::TT 3184/16612)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 69881642 (NC_000013.10:110811086:T: 9763/16612) Row 69881643 (NC_000013.10:110811086::TTT 1760/16612) Row 69881644 (NC_000013.10:110811086::TT 3184/16612)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 69881642 (NC_000013.10:110811086:T: 9763/16612) Row 69881643 (NC_000013.10:110811086::TTT 1760/16612) Row 69881644 (NC_000013.10:110811086::TT 3184/16612)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 69881642 (NC_000013.10:110811086:T: 9763/16612) Row 69881643 (NC_000013.10:110811086::TTT 1760/16612) Row 69881644 (NC_000013.10:110811086::TT 3184/16612)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 69881642 (NC_000013.10:110811086:T: 9763/16612) Row 69881643 (NC_000013.10:110811086::TTT 1760/16612) Row 69881644 (NC_000013.10:110811086::TT 3184/16612)...	-	Apr 26, 2021 (155)
99	8.3KJPN Submission ignored due to conflicting rows: Row 69881642 (NC_000013.10:110811086:T: 9763/16612) Row 69881643 (NC_000013.10:110811086::TTT 1760/16612) Row 69881644 (NC_000013.10:110811086::TT 3184/16612)...	-	Apr 26, 2021 (155)
100	14KJPN Submission ignored due to conflicting rows: Row 98150534 (NC_000013.11:110158739:T: 16601/28256) Row 98150535 (NC_000013.11:110158739::TT 5786/28256) Row 98150536 (NC_000013.11:110158739::T 888/28256)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 98150534 (NC_000013.11:110158739:T: 16601/28256) Row 98150535 (NC_000013.11:110158739::TT 5786/28256) Row 98150536 (NC_000013.11:110158739::T 888/28256)...	-	Oct 16, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 98150534 (NC_000013.11:110158739:T: 16601/28256) Row 98150535 (NC_000013.11:110158739::TT 5786/28256) Row 98150536 (NC_000013.11:110158739::T 888/28256)...	-	Oct 16, 2022 (156)
103	14KJPN Submission ignored due to conflicting rows: Row 98150534 (NC_000013.11:110158739:T: 16601/28256) Row 98150535 (NC_000013.11:110158739::TT 5786/28256) Row 98150536 (NC_000013.11:110158739::T 888/28256)...	-	Oct 16, 2022 (156)
104	14KJPN Submission ignored due to conflicting rows: Row 98150534 (NC_000013.11:110158739:T: 16601/28256) Row 98150535 (NC_000013.11:110158739::TT 5786/28256) Row 98150536 (NC_000013.11:110158739::T 888/28256)...	-	Oct 16, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 98150534 (NC_000013.11:110158739:T: 16601/28256) Row 98150535 (NC_000013.11:110158739::TT 5786/28256) Row 98150536 (NC_000013.11:110158739::T 888/28256)...	-	Oct 16, 2022 (156)
106	UK 10K study - Twins Submission ignored due to conflicting rows: Row 34932606 (NC_000013.10:110811088:T: 1976/3708) Row 34932607 (NC_000013.10:110811087:TT: 1337/3708) Row 34932608 (NC_000013.10:110811086:TTT: 310/3708)	-	Apr 27, 2020 (154)
107	UK 10K study - Twins Submission ignored due to conflicting rows: Row 34932607 (NC_000013.10:110811087:T: 1337/3708) Row 34932608 (NC_000013.10:110811086:TTT: 310/3708)	-	Oct 12, 2018 (152)
108	UK 10K study - Twins Submission ignored due to conflicting rows: Row 34932607 (NC_000013.10:110811087:T: 1337/3708) Row 34932608 (NC_000013.10:110811086:TTT: 310/3708)	-	Oct 12, 2018 (152)
109	ALFA	NC_000013.11 - 110158740	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs797009448	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4273337419	NC_000013.11:110158739:TTTTTTTTTT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4273337418	NC_000013.11:110158739:TTTTTT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4273337417	NC_000013.11:110158739:TTTTT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4273337416	NC_000013.11:110158739:TTTT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss1707952723, ss1707952730, ss5840068906	NC_000013.10:110811086:TTT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4273337415	NC_000013.11:110158739:TTT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3011718712, ss3787584336, ss5211912339, ss5840068904	NC_000013.10:110811086:TT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1710623659, ss1710623673	NC_000013.10:110811087:TT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3696140231, ss4273337414, ss5295222360, ss5489438793, ss5764313435	NC_000013.11:110158739:TT:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
62857780, ss1373701086, ss3740136286, ss3792633808, ss3797517775, ss3833775411, ss5211912335, ss5840068903	NC_000013.10:110811086:T:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
	NC_000013.10:110811087:T:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1710623657, ss1710623672	NC_000013.10:110811088:T:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3817323262, ss5295222357, ss5489438792, ss5764313430, ss5926813606	NC_000013.11:110158739:T:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3696140232	NC_000013.11:110158740:T:	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5211912338	NC_000013.10:110811086::T	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337402, ss5295222362, ss5764313432	NC_000013.11:110158739::T	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3696140233	NC_000013.11:110158741::T	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5211912337	NC_000013.10:110811086::TT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337403, ss5295222359, ss5489438795, ss5764313431	NC_000013.11:110158739::TT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3696140234	NC_000013.11:110158741::TT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3740136287, ss5211912336, ss5840068905	NC_000013.10:110811086::TTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss947323316	NC_000013.10:110811088::TTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3064616359, ss4273337404, ss5295222358, ss5489438794, ss5764313433, ss5850918762	NC_000013.11:110158739::TTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3696140235	NC_000013.11:110158741::TTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5211912340	NC_000013.10:110811086::TTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337405, ss5764313434	NC_000013.11:110158739::TTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3696140236	NC_000013.11:110158741::TTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000013.11:110158739::TTTTTTTTTT… NC_000013.11:110158739::TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTAAATATTTAAAAGAAATAAT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337406	NC_000013.11:110158739::TTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337407, ss5295222361	NC_000013.11:110158739::TTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337408	NC_000013.11:110158739::TTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12780093071	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337409	NC_000013.11:110158739::TTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337410	NC_000013.11:110158739::TTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337411	NC_000013.11:110158739::TTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4273337412	NC_000013.11:110158739::TTTTTTTTTT… NC_000013.11:110158739::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3740136288	NC_000013.10:110811086::TTTTTTTTTT… NC_000013.10:110811086::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000013.11:110158739:TTTTTTTTTTT… NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs556230875

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs556230875