Name: rs553191513
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.

rs553191513

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:53927202-53927218 (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)₅ / del(T)₄ / delTTT / delTT…
del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / ins(T)₂₇
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.02270 (270/11892, ALFA)
delT=0.2698 (1351/5008, 1000G)
delT=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS20 : 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	11892	TTTTTTTTTTTTTTTTT=0.97074	TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00168, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.02270, TTTTTTTTTTTTTTTTTT=0.00479, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00008, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.957077	0.002044	0.040879	16
European	Sub	10318	TTTTTTTTTTTTTTTTT=0.96637	TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00194, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.02607, TTTTTTTTTTTTTTTTTT=0.00552, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00010, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000	0.950629	0.00236	0.04701	13
African	Sub	736	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	28	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	708	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	58	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	84	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	354	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	78	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	264	TTTTTTTTTTTTTTTTT=0.996	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.004, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000	0.992424	0.0	0.007576	0

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	11892	(T)₁₇=0.97074	del(T)₅=0.00000, del(T)₄=0.00168, delTTT=0.00000, delTT=0.00000, delT=0.02270, dupT=0.00479, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, ins(T)₂₇=0.00008
Allele Frequency Aggregator	European	Sub	10318	(T)₁₇=0.96637	del(T)₅=0.00000, del(T)₄=0.00194, delTTT=0.00000, delTT=0.00000, delT=0.02607, dupT=0.00552, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, ins(T)₂₇=0.00010
Allele Frequency Aggregator	African	Sub	736	(T)₁₇=1.000	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	354	(T)₁₇=1.000	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Other	Sub	264	(T)₁₇=0.996	del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.004, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, ins(T)₂₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	(T)₁₇=1.00	del(T)₅=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, ins(T)₂₇=0.00
Allele Frequency Aggregator	South Asian	Sub	78	(T)₁₇=1.00	del(T)₅=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, ins(T)₂₇=0.00
Allele Frequency Aggregator	Asian	Sub	58	(T)₁₇=1.00	del(T)₅=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, ins(T)₂₇=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.7302	delT=0.2698
1000Genomes	African	Sub	1322	(T)₁₇=0.6793	delT=0.3207
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.6806	delT=0.3194
1000Genomes	Europe	Sub	1006	(T)₁₇=0.7932	delT=0.2068
1000Genomes	South Asian	Sub	978	(T)₁₇=0.806	delT=0.194
1000Genomes	American	Sub	694	(T)₁₇=0.702	delT=0.298
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₇=0.68	delT=0.33

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 8	NC_000008.11:g.53927214_53927218del
GRCh38.p14 chr 8	NC_000008.11:g.53927215_53927218del
GRCh38.p14 chr 8	NC_000008.11:g.53927216_53927218del
GRCh38.p14 chr 8	NC_000008.11:g.53927217_53927218del
GRCh38.p14 chr 8	NC_000008.11:g.53927218del
GRCh38.p14 chr 8	NC_000008.11:g.53927218dup
GRCh38.p14 chr 8	NC_000008.11:g.53927217_53927218dup
GRCh38.p14 chr 8	NC_000008.11:g.53927216_53927218dup
GRCh38.p14 chr 8	NC_000008.11:g.53927215_53927218dup
GRCh38.p14 chr 8	NC_000008.11:g.53927218_53927219insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8	NC_000008.10:g.54839774_54839778del
GRCh37.p13 chr 8	NC_000008.10:g.54839775_54839778del
GRCh37.p13 chr 8	NC_000008.10:g.54839776_54839778del
GRCh37.p13 chr 8	NC_000008.10:g.54839777_54839778del
GRCh37.p13 chr 8	NC_000008.10:g.54839778del
GRCh37.p13 chr 8	NC_000008.10:g.54839778dup
GRCh37.p13 chr 8	NC_000008.10:g.54839777_54839778dup
GRCh37.p13 chr 8	NC_000008.10:g.54839776_54839778dup
GRCh37.p13 chr 8	NC_000008.10:g.54839775_54839778dup
GRCh37.p13 chr 8	NC_000008.10:g.54839778_54839779insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: RGS20, regulator of G protein signaling 20 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS20 transcript variant 3	NM_001286673.2:c.166-1236… NM_001286673.2:c.166-12362_166-12358del	N/A	Intron Variant
RGS20 transcript variant 4	NM_001286674.2:c.36-26862… NM_001286674.2:c.36-26862_36-26858del	N/A	Intron Variant
RGS20 transcript variant 5	NM_001286675.2:c.36-19451… NM_001286675.2:c.36-19451_36-19447del	N/A	Intron Variant
RGS20 transcript variant 2	NM_003702.4:c.70-12362_70… NM_003702.4:c.70-12362_70-12358del	N/A	Intron Variant
RGS20 transcript variant 1	NM_170587.4:c.511-12362_5… NM_170587.4:c.511-12362_511-12358del	N/A	Intron Variant
RGS20 transcript variant 7	NR_104579.2:n.	N/A	Intron Variant
RGS20 transcript variant 6	NR_104578.2:n.	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)₁₇=	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	ins(T)₂₇
GRCh38.p14 chr 8	NC_000008.11:g.53927202_53927218=	NC_000008.11:g.53927214_53927218del	NC_000008.11:g.53927215_53927218del	NC_000008.11:g.53927216_53927218del	NC_000008.11:g.53927217_53927218del	NC_000008.11:g.53927218del	NC_000008.11:g.53927218dup	NC_000008.11:g.53927217_53927218dup	NC_000008.11:g.53927216_53927218dup	NC_000008.11:g.53927215_53927218dup	NC_000008.11:g.53927218_53927219insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8	NC_000008.10:g.54839762_54839778=	NC_000008.10:g.54839774_54839778del	NC_000008.10:g.54839775_54839778del	NC_000008.10:g.54839776_54839778del	NC_000008.10:g.54839777_54839778del	NC_000008.10:g.54839778del	NC_000008.10:g.54839778dup	NC_000008.10:g.54839777_54839778dup	NC_000008.10:g.54839776_54839778dup	NC_000008.10:g.54839775_54839778dup	NC_000008.10:g.54839778_54839779insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 3	NM_001286673.2:c.166-12374=	NM_001286673.2:c.166-12362_166-12358del	NM_001286673.2:c.166-12361_166-12358del	NM_001286673.2:c.166-12360_166-12358del	NM_001286673.2:c.166-12359_166-12358del	NM_001286673.2:c.166-12358del	NM_001286673.2:c.166-12358dup	NM_001286673.2:c.166-12359_166-12358dup	NM_001286673.2:c.166-12360_166-12358dup	NM_001286673.2:c.166-12361_166-12358dup	NM_001286673.2:c.166-12358_166-12357insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 4	NM_001286674.2:c.36-26874=	NM_001286674.2:c.36-26862_36-26858del	NM_001286674.2:c.36-26861_36-26858del	NM_001286674.2:c.36-26860_36-26858del	NM_001286674.2:c.36-26859_36-26858del	NM_001286674.2:c.36-26858del	NM_001286674.2:c.36-26858dup	NM_001286674.2:c.36-26859_36-26858dup	NM_001286674.2:c.36-26860_36-26858dup	NM_001286674.2:c.36-26861_36-26858dup	NM_001286674.2:c.36-26858_36-26857insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 5	NM_001286675.2:c.36-19463=	NM_001286675.2:c.36-19451_36-19447del	NM_001286675.2:c.36-19450_36-19447del	NM_001286675.2:c.36-19449_36-19447del	NM_001286675.2:c.36-19448_36-19447del	NM_001286675.2:c.36-19447del	NM_001286675.2:c.36-19447dup	NM_001286675.2:c.36-19448_36-19447dup	NM_001286675.2:c.36-19449_36-19447dup	NM_001286675.2:c.36-19450_36-19447dup	NM_001286675.2:c.36-19447_36-19446insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 2	NM_003702.3:c.70-12374=	NM_003702.3:c.70-12362_70-12358del	NM_003702.3:c.70-12361_70-12358del	NM_003702.3:c.70-12360_70-12358del	NM_003702.3:c.70-12359_70-12358del	NM_003702.3:c.70-12358del	NM_003702.3:c.70-12358dup	NM_003702.3:c.70-12359_70-12358dup	NM_003702.3:c.70-12360_70-12358dup	NM_003702.3:c.70-12361_70-12358dup	NM_003702.3:c.70-12358_70-12357insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 2	NM_003702.4:c.70-12374=	NM_003702.4:c.70-12362_70-12358del	NM_003702.4:c.70-12361_70-12358del	NM_003702.4:c.70-12360_70-12358del	NM_003702.4:c.70-12359_70-12358del	NM_003702.4:c.70-12358del	NM_003702.4:c.70-12358dup	NM_003702.4:c.70-12359_70-12358dup	NM_003702.4:c.70-12360_70-12358dup	NM_003702.4:c.70-12361_70-12358dup	NM_003702.4:c.70-12358_70-12357insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 1	NM_170587.2:c.511-12374=	NM_170587.2:c.511-12362_511-12358del	NM_170587.2:c.511-12361_511-12358del	NM_170587.2:c.511-12360_511-12358del	NM_170587.2:c.511-12359_511-12358del	NM_170587.2:c.511-12358del	NM_170587.2:c.511-12358dup	NM_170587.2:c.511-12359_511-12358dup	NM_170587.2:c.511-12360_511-12358dup	NM_170587.2:c.511-12361_511-12358dup	NM_170587.2:c.511-12358_511-12357insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant 1	NM_170587.4:c.511-12374=	NM_170587.4:c.511-12362_511-12358del	NM_170587.4:c.511-12361_511-12358del	NM_170587.4:c.511-12360_511-12358del	NM_170587.4:c.511-12359_511-12358del	NM_170587.4:c.511-12358del	NM_170587.4:c.511-12358dup	NM_170587.4:c.511-12359_511-12358dup	NM_170587.4:c.511-12360_511-12358dup	NM_170587.4:c.511-12361_511-12358dup	NM_170587.4:c.511-12358_511-12357insTTTTTTTTTTTTTTTTTTTTTTTTTTT
RGS20 transcript variant X1	XM_005251323.1:c.166-12374=	XM_005251323.1:c.166-12362_166-12358del	XM_005251323.1:c.166-12361_166-12358del	XM_005251323.1:c.166-12360_166-12358del	XM_005251323.1:c.166-12359_166-12358del	XM_005251323.1:c.166-12358del	XM_005251323.1:c.166-12358dup	XM_005251323.1:c.166-12359_166-12358dup	XM_005251323.1:c.166-12360_166-12358dup	XM_005251323.1:c.166-12361_166-12358dup	XM_005251323.1:c.166-12358_166-12357insTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

43 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss663860001	Apr 01, 2015 (144)
2	1000GENOMES	ss1367936754	Aug 21, 2014 (142)
3	EVA_GENOME_DK	ss1577204419	Apr 01, 2015 (144)
4	SWEGEN	ss3003192038	Nov 08, 2017 (151)
5	ACPOP	ss3735667559	Jul 13, 2019 (153)
6	ACPOP	ss3735667560	Jul 13, 2019 (153)
7	PACBIO	ss3786147301	Jul 13, 2019 (153)
8	KHV_HUMAN_GENOMES	ss3811165228	Jul 13, 2019 (153)
9	EVA	ss3831166306	Apr 26, 2020 (154)
10	KOGIC	ss3963888569	Apr 26, 2020 (154)
11	KOGIC	ss3963888570	Apr 26, 2020 (154)
12	KOGIC	ss3963888571	Apr 26, 2020 (154)
13	KOGIC	ss3963888572	Apr 26, 2020 (154)
14	GNOMAD	ss4184509693	Apr 26, 2021 (155)
15	GNOMAD	ss4184509694	Apr 26, 2021 (155)
16	GNOMAD	ss4184509695	Apr 26, 2021 (155)
17	GNOMAD	ss4184509696	Apr 26, 2021 (155)
18	GNOMAD	ss4184509697	Apr 26, 2021 (155)
19	GNOMAD	ss4184509698	Apr 26, 2021 (155)
20	GNOMAD	ss4184509699	Apr 26, 2021 (155)
21	GNOMAD	ss4184509700	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5188741325	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5188741326	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5188741327	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5188741328	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5188741329	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5277165033	Oct 14, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5277165034	Oct 14, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5277165035	Oct 14, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5277165036	Oct 14, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5277165037	Oct 14, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5277165038	Oct 14, 2022 (156)
33	HUGCELL_USP	ss5473729235	Oct 14, 2022 (156)
34	HUGCELL_USP	ss5473729236	Oct 14, 2022 (156)
35	HUGCELL_USP	ss5473729237	Oct 14, 2022 (156)
36	HUGCELL_USP	ss5473729238	Oct 14, 2022 (156)
37	HUGCELL_USP	ss5473729239	Oct 14, 2022 (156)
38	TOMMO_GENOMICS	ss5730815195	Oct 14, 2022 (156)
39	TOMMO_GENOMICS	ss5730815196	Oct 14, 2022 (156)
40	TOMMO_GENOMICS	ss5730815197	Oct 14, 2022 (156)
41	TOMMO_GENOMICS	ss5730815198	Oct 14, 2022 (156)
42	TOMMO_GENOMICS	ss5730815199	Oct 14, 2022 (156)
43	EVA	ss5888989349	Oct 14, 2022 (156)
44	1000Genomes	NC_000008.10 - 54839762	Oct 12, 2018 (152)
45	The Danish reference pan genome	NC_000008.10 - 54839762	Apr 26, 2020 (154)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 296215689 (NC_000008.11:53927201::T 3771/116738) Row 296215690 (NC_000008.11:53927201::TT 14/116790) Row 296215691 (NC_000008.11:53927201::TTT 3/116794)...	-	Apr 26, 2021 (155)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 20266570 (NC_000008.11:53927201:TTTT: 152/1830) Row 20266571 (NC_000008.11:53927204:T: 474/1830) Row 20266572 (NC_000008.11:53927203:TT: 23/1830)...	-	Apr 26, 2020 (154)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 20266570 (NC_000008.11:53927201:TTTT: 152/1830) Row 20266571 (NC_000008.11:53927204:T: 474/1830) Row 20266572 (NC_000008.11:53927203:TT: 23/1830)...	-	Apr 26, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 20266570 (NC_000008.11:53927201:TTTT: 152/1830) Row 20266571 (NC_000008.11:53927204:T: 474/1830) Row 20266572 (NC_000008.11:53927203:TT: 23/1830)...	-	Apr 26, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 20266570 (NC_000008.11:53927201:TTTT: 152/1830) Row 20266571 (NC_000008.11:53927204:T: 474/1830) Row 20266572 (NC_000008.11:53927203:TT: 23/1830)...	-	Apr 26, 2020 (154)
59	Northern Sweden Submission ignored due to conflicting rows: Row 8952424 (NC_000008.10:54839761:T: 5/596) Row 8952425 (NC_000008.10:54839761:TTTT: 2/596)	-	Jul 13, 2019 (153)
60	Northern Sweden Submission ignored due to conflicting rows: Row 8952424 (NC_000008.10:54839761:T: 5/596) Row 8952425 (NC_000008.10:54839761:TTTT: 2/596)	-	Jul 13, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 46710632 (NC_000008.10:54839761:T: 3340/16730) Row 46710633 (NC_000008.10:54839761:TTTT: 1158/16730) Row 46710634 (NC_000008.10:54839761::T 38/16730)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 46710632 (NC_000008.10:54839761:T: 3340/16730) Row 46710633 (NC_000008.10:54839761:TTTT: 1158/16730) Row 46710634 (NC_000008.10:54839761::T 38/16730)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 46710632 (NC_000008.10:54839761:T: 3340/16730) Row 46710633 (NC_000008.10:54839761:TTTT: 1158/16730) Row 46710634 (NC_000008.10:54839761::T 38/16730)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 46710632 (NC_000008.10:54839761:T: 3340/16730) Row 46710633 (NC_000008.10:54839761:TTTT: 1158/16730) Row 46710634 (NC_000008.10:54839761::T 38/16730)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 46710632 (NC_000008.10:54839761:T: 3340/16730) Row 46710633 (NC_000008.10:54839761:TTTT: 1158/16730) Row 46710634 (NC_000008.10:54839761::T 38/16730)...	-	Apr 26, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 64652299 (NC_000008.11:53927201:T: 5922/28250) Row 64652300 (NC_000008.11:53927201:TTTT: 1945/28250) Row 64652301 (NC_000008.11:53927201:TTTTT: 18/28250)...	-	Oct 14, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 64652299 (NC_000008.11:53927201:T: 5922/28250) Row 64652300 (NC_000008.11:53927201:TTTT: 1945/28250) Row 64652301 (NC_000008.11:53927201:TTTTT: 18/28250)...	-	Oct 14, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 64652299 (NC_000008.11:53927201:T: 5922/28250) Row 64652300 (NC_000008.11:53927201:TTTT: 1945/28250) Row 64652301 (NC_000008.11:53927201:TTTTT: 18/28250)...	-	Oct 14, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 64652299 (NC_000008.11:53927201:T: 5922/28250) Row 64652300 (NC_000008.11:53927201:TTTT: 1945/28250) Row 64652301 (NC_000008.11:53927201:TTTTT: 18/28250)...	-	Oct 14, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 64652299 (NC_000008.11:53927201:T: 5922/28250) Row 64652300 (NC_000008.11:53927201:TTTT: 1945/28250) Row 64652301 (NC_000008.11:53927201:TTTTT: 18/28250)...	-	Oct 14, 2022 (156)
71	ALFA	NC_000008.11 - 53927202	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
ss5188741328	NC_000008.10:54839761:TTTTT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4184509700, ss5277165037, ss5730815197	NC_000008.11:53927201:TTTTT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss663860001, ss3003192038, ss3735667560, ss5188741326	NC_000008.10:54839761:TTTT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3963888569, ss4184509699, ss5277165034, ss5473729238, ss5730815196, ss5888989349	NC_000008.11:53927201:TTTT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4184509698, ss5277165038, ss5473729239	NC_000008.11:53927201:TTT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5188741329	NC_000008.10:54839761:TT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4184509697, ss5277165035, ss5473729235, ss5730815199	NC_000008.11:53927201:TT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3963888571	NC_000008.11:53927203:TT:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
42005209, 1220057, ss1367936754, ss1577204419, ss3735667559, ss5188741325	NC_000008.10:54839761:T:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3811165228, ss5277165033, ss5473729236, ss5730815195	NC_000008.11:53927201:T:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3963888570	NC_000008.11:53927204:T:	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3786147301, ss3831166306, ss5188741327	NC_000008.10:54839761::T	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4184509693, ss5277165036, ss5473729237, ss5730815198	NC_000008.11:53927201::T	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3963888572	NC_000008.11:53927205::T	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4184509694	NC_000008.11:53927201::TT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4184509695	NC_000008.11:53927201::TTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4184509696	NC_000008.11:53927201::TTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1246305681	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000008.11:53927201:TTTTTTTTTTTT… NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs553191513

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

rs553191513