Name: rs5782162
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.

rs5782162

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:240808908-240808909 (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: insTC / insTTC / insTTCATG / insTT…
insTC / insTTC / insTTCATG / insTTCGTG / insTTCTTG
Variation Type: Insertion
Frequency: -=0.44235 (12499/28256, 14KJPN)
-=0.43962 (7368/16760, 8.3KJPN)
insTTC=0.22198 (3625/16330, ALFA) (+ 6 more)
-=0.3610 (2312/6404, 1000G_30x)
-=0.3628 (1817/5008, 1000G)
-=0.1876 (840/4478, Estonian)
-=0.4782 (876/1832, Korea1K)
-=0.253 (152/600, NorthernSweden)
-=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS7 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	16330	=0.77802	TTC=0.22198, TTCATG=0.00000, TTCTTG=0.00000
European	Sub	12078	=0.70036	TTC=0.29964, TTCATG=0.00000, TTCTTG=0.00000
African	Sub	2816	=1.0000	TTC=0.0000, TTCATG=0.0000, TTCTTG=0.0000
African Others	Sub	108	=1.000	TTC=0.000, TTCATG=0.000, TTCTTG=0.000
African American	Sub	2708	=1.0000	TTC=0.0000, TTCATG=0.0000, TTCTTG=0.0000
Asian	Sub	108	=1.000	TTC=0.000, TTCATG=0.000, TTCTTG=0.000
East Asian	Sub	84	=1.00	TTC=0.00, TTCATG=0.00, TTCTTG=0.00
Other Asian	Sub	24	=1.00	TTC=0.00, TTCATG=0.00, TTCTTG=0.00
Latin American 1	Sub	146	=1.000	TTC=0.000, TTCATG=0.000, TTCTTG=0.000
Latin American 2	Sub	610	=1.000	TTC=0.000, TTCATG=0.000, TTCTTG=0.000
South Asian	Sub	94	=1.00	TTC=0.00, TTCATG=0.00, TTCTTG=0.00
Other	Sub	478	=0.987	TTC=0.013, TTCATG=0.000, TTCTTG=0.000

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
14KJPN	JAPANESE	Study-wide	28256	- No frequency provided	insTTC=0.55765
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	insTTC=0.56038
Allele Frequency Aggregator	Total	Global	16330	- No frequency provided	insTTC=0.22198, insTTCATG=0.00000, insTTCTTG=0.00000
Allele Frequency Aggregator	European	Sub	12078	- No frequency provided	insTTC=0.29964, insTTCATG=0.00000, insTTCTTG=0.00000
Allele Frequency Aggregator	African	Sub	2816	- No frequency provided	insTTC=0.0000, insTTCATG=0.0000, insTTCTTG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	- No frequency provided	insTTC=0.000, insTTCATG=0.000, insTTCTTG=0.000
Allele Frequency Aggregator	Other	Sub	478	- No frequency provided	insTTC=0.013, insTTCATG=0.000, insTTCTTG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	- No frequency provided	insTTC=0.000, insTTCATG=0.000, insTTCTTG=0.000
Allele Frequency Aggregator	Asian	Sub	108	- No frequency provided	insTTC=0.000, insTTCATG=0.000, insTTCTTG=0.000
Allele Frequency Aggregator	South Asian	Sub	94	- No frequency provided	insTTC=0.00, insTTCATG=0.00, insTTCTTG=0.00
1000Genomes_30x	Global	Study-wide	6404	- No frequency provided	insTTC=0.6390
1000Genomes_30x	African	Sub	1786	- No frequency provided	insTTC=0.6159
1000Genomes_30x	Europe	Sub	1266	- No frequency provided	insTTC=0.7559
1000Genomes_30x	South Asian	Sub	1202	- No frequency provided	insTTC=0.5940
1000Genomes_30x	East Asian	Sub	1170	- No frequency provided	insTTC=0.5932
1000Genomes_30x	American	Sub	980	- No frequency provided	insTTC=0.640
1000Genomes	Global	Study-wide	5008	- No frequency provided	insTTC=0.6372
1000Genomes	African	Sub	1322	- No frequency provided	insTTC=0.6165
1000Genomes	East Asian	Sub	1008	- No frequency provided	insTTC=0.5833
1000Genomes	Europe	Sub	1006	- No frequency provided	insTTC=0.7654
1000Genomes	South Asian	Sub	978	- No frequency provided	insTTC=0.589
1000Genomes	American	Sub	694	- No frequency provided	insTTC=0.637
Genetic variation in the Estonian population	Estonian	Study-wide	4478	- No frequency provided	insTTC=0.8124
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	insTTC=0.5218
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	insTTC=0.747
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	insTTC=0.62

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.240808908_240808909insTC
GRCh38.p14 chr 1	NC_000001.11:g.240808908_240808909insTTC
GRCh38.p14 chr 1	NC_000001.11:g.240808908_240808909insTTCATG
GRCh38.p14 chr 1	NC_000001.11:g.240808908_240808909insTTCGTG
GRCh38.p14 chr 1	NC_000001.11:g.240808908_240808909insTTCTTG
GRCh37.p13 chr 1	NC_000001.10:g.240972208_240972209insTC
GRCh37.p13 chr 1	NC_000001.10:g.240972208_240972209insTTC
GRCh37.p13 chr 1	NC_000001.10:g.240972208_240972209insTTCATG
GRCh37.p13 chr 1	NC_000001.10:g.240972208_240972209insTTCGTG
GRCh37.p13 chr 1	NC_000001.10:g.240972208_240972209insTTCTTG

Gene: RGS7, regulator of G protein signaling 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS7 transcript variant 2	NM_001282773.2:c.924-2583… NM_001282773.2:c.924-2583_924-2582insGA	N/A	Intron Variant
RGS7 transcript variant 3	NM_001282775.2:c.1083-258… NM_001282775.2:c.1083-2583_1083-2582insGA	N/A	Intron Variant
RGS7 transcript variant 4	NM_001282778.2:c.1083-258… NM_001282778.2:c.1083-2583_1083-2582insGA	N/A	Intron Variant
RGS7 transcript variant 5	NM_001350113.2:c.1005-258… NM_001350113.2:c.1005-2583_1005-2582insGA	N/A	Intron Variant
RGS7 transcript variant 6	NM_001350114.2:c.1005-258… NM_001350114.2:c.1005-2583_1005-2582insGA	N/A	Intron Variant
RGS7 transcript variant 7	NM_001350115.2:c.1005-258… NM_001350115.2:c.1005-2583_1005-2582insGA	N/A	Intron Variant
RGS7 transcript variant 8	NM_001350116.1:c.1005-258… NM_001350116.1:c.1005-2583_1005-2582insGA	N/A	Intron Variant
RGS7 transcript variant 9	NM_001364886.1:c.1083-258… NM_001364886.1:c.1083-2583_1083-2582insGA	N/A	Intron Variant
RGS7 transcript variant 10	NM_001374806.1:c.1032-258… NM_001374806.1:c.1032-2583_1032-2582insGA	N/A	Intron Variant
RGS7 transcript variant 11	NM_001374807.1:c.1032-258… NM_001374807.1:c.1032-2583_1032-2582insGA	N/A	Intron Variant
RGS7 transcript variant 12	NM_001374808.1:c.1005-258… NM_001374808.1:c.1005-2583_1005-2582insGA	N/A	Intron Variant
RGS7 transcript variant 13	NM_001374809.1:c.804-2583… NM_001374809.1:c.804-2583_804-2582insGA	N/A	Intron Variant
RGS7 transcript variant 14	NM_001374810.1:c.804-2583… NM_001374810.1:c.804-2583_804-2582insGA	N/A	Intron Variant
RGS7 transcript variant 16	NM_001374811.1:c.924-2583… NM_001374811.1:c.924-2583_924-2582insGA	N/A	Intron Variant
RGS7 transcript variant 15	NM_001374812.1:c.1008-258… NM_001374812.1:c.1008-2583_1008-2582insGA	N/A	Intron Variant
RGS7 transcript variant 17	NM_001374813.1:c.570-2583… NM_001374813.1:c.570-2583_570-2582insGA	N/A	Intron Variant
RGS7 transcript variant 18	NM_001374814.1:c.924-2583… NM_001374814.1:c.924-2583_924-2582insGA	N/A	Intron Variant
RGS7 transcript variant 19	NM_001374815.1:c.972-2583… NM_001374815.1:c.972-2583_972-2582insGA	N/A	Intron Variant
RGS7 transcript variant 20	NM_001374816.1:c.972-2583… NM_001374816.1:c.972-2583_972-2582insGA	N/A	Intron Variant
RGS7 transcript variant 1	NM_002924.6:c.1083-2583_1… NM_002924.6:c.1083-2583_1083-2582insGA	N/A	Intron Variant
RGS7 transcript variant X2	XM_017002009.2:c.1005-258… XM_017002009.2:c.1005-2583_1005-2582insGA	N/A	Intron Variant
RGS7 transcript variant X1	XM_047426980.1:c.1005-258… XM_047426980.1:c.1005-2583_1005-2582insGA	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	=	insTC	insTTC	insTTCATG	insTTCGTG	insTTCTTG
GRCh38.p14 chr 1	NC_000001.11:g.240808908_240808909=	NC_000001.11:g.240808908_240808909insTC	NC_000001.11:g.240808908_240808909insTTC	NC_000001.11:g.240808908_240808909insTTCATG	NC_000001.11:g.240808908_240808909insTTCGTG	NC_000001.11:g.240808908_240808909insTTCTTG
GRCh37.p13 chr 1	NC_000001.10:g.240972208_240972209=	NC_000001.10:g.240972208_240972209insTC	NC_000001.10:g.240972208_240972209insTTC	NC_000001.10:g.240972208_240972209insTTCATG	NC_000001.10:g.240972208_240972209insTTCGTG	NC_000001.10:g.240972208_240972209insTTCTTG
RGS7 transcript variant 2	NM_001282773.2:c.924-2583=	NM_001282773.2:c.924-2583_924-2582insGA	NM_001282773.2:c.924-2583_924-2582insGAA	NM_001282773.2:c.924-2583_924-2582insCATGAA	NM_001282773.2:c.924-2583_924-2582insCACGAA	NM_001282773.2:c.924-2583_924-2582insCAAGAA
RGS7 transcript variant 3	NM_001282775.2:c.1083-2583=	NM_001282775.2:c.1083-2583_1083-2582insGA	NM_001282775.2:c.1083-2583_1083-2582insGAA	NM_001282775.2:c.1083-2583_1083-2582insCATGAA	NM_001282775.2:c.1083-2583_1083-2582insCACGAA	NM_001282775.2:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant 4	NM_001282778.2:c.1083-2583=	NM_001282778.2:c.1083-2583_1083-2582insGA	NM_001282778.2:c.1083-2583_1083-2582insGAA	NM_001282778.2:c.1083-2583_1083-2582insCATGAA	NM_001282778.2:c.1083-2583_1083-2582insCACGAA	NM_001282778.2:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant 5	NM_001350113.2:c.1005-2583=	NM_001350113.2:c.1005-2583_1005-2582insGA	NM_001350113.2:c.1005-2583_1005-2582insGAA	NM_001350113.2:c.1005-2583_1005-2582insCATGAA	NM_001350113.2:c.1005-2583_1005-2582insCACGAA	NM_001350113.2:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant 6	NM_001350114.2:c.1005-2583=	NM_001350114.2:c.1005-2583_1005-2582insGA	NM_001350114.2:c.1005-2583_1005-2582insGAA	NM_001350114.2:c.1005-2583_1005-2582insCATGAA	NM_001350114.2:c.1005-2583_1005-2582insCACGAA	NM_001350114.2:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant 7	NM_001350115.2:c.1005-2583=	NM_001350115.2:c.1005-2583_1005-2582insGA	NM_001350115.2:c.1005-2583_1005-2582insGAA	NM_001350115.2:c.1005-2583_1005-2582insCATGAA	NM_001350115.2:c.1005-2583_1005-2582insCACGAA	NM_001350115.2:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant 8	NM_001350116.1:c.1005-2583=	NM_001350116.1:c.1005-2583_1005-2582insGA	NM_001350116.1:c.1005-2583_1005-2582insGAA	NM_001350116.1:c.1005-2583_1005-2582insCATGAA	NM_001350116.1:c.1005-2583_1005-2582insCACGAA	NM_001350116.1:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant 9	NM_001364886.1:c.1083-2583=	NM_001364886.1:c.1083-2583_1083-2582insGA	NM_001364886.1:c.1083-2583_1083-2582insGAA	NM_001364886.1:c.1083-2583_1083-2582insCATGAA	NM_001364886.1:c.1083-2583_1083-2582insCACGAA	NM_001364886.1:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant 10	NM_001374806.1:c.1032-2583=	NM_001374806.1:c.1032-2583_1032-2582insGA	NM_001374806.1:c.1032-2583_1032-2582insGAA	NM_001374806.1:c.1032-2583_1032-2582insCATGAA	NM_001374806.1:c.1032-2583_1032-2582insCACGAA	NM_001374806.1:c.1032-2583_1032-2582insCAAGAA
RGS7 transcript variant 11	NM_001374807.1:c.1032-2583=	NM_001374807.1:c.1032-2583_1032-2582insGA	NM_001374807.1:c.1032-2583_1032-2582insGAA	NM_001374807.1:c.1032-2583_1032-2582insCATGAA	NM_001374807.1:c.1032-2583_1032-2582insCACGAA	NM_001374807.1:c.1032-2583_1032-2582insCAAGAA
RGS7 transcript variant 12	NM_001374808.1:c.1005-2583=	NM_001374808.1:c.1005-2583_1005-2582insGA	NM_001374808.1:c.1005-2583_1005-2582insGAA	NM_001374808.1:c.1005-2583_1005-2582insCATGAA	NM_001374808.1:c.1005-2583_1005-2582insCACGAA	NM_001374808.1:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant 13	NM_001374809.1:c.804-2583=	NM_001374809.1:c.804-2583_804-2582insGA	NM_001374809.1:c.804-2583_804-2582insGAA	NM_001374809.1:c.804-2583_804-2582insCATGAA	NM_001374809.1:c.804-2583_804-2582insCACGAA	NM_001374809.1:c.804-2583_804-2582insCAAGAA
RGS7 transcript variant 14	NM_001374810.1:c.804-2583=	NM_001374810.1:c.804-2583_804-2582insGA	NM_001374810.1:c.804-2583_804-2582insGAA	NM_001374810.1:c.804-2583_804-2582insCATGAA	NM_001374810.1:c.804-2583_804-2582insCACGAA	NM_001374810.1:c.804-2583_804-2582insCAAGAA
RGS7 transcript variant 16	NM_001374811.1:c.924-2583=	NM_001374811.1:c.924-2583_924-2582insGA	NM_001374811.1:c.924-2583_924-2582insGAA	NM_001374811.1:c.924-2583_924-2582insCATGAA	NM_001374811.1:c.924-2583_924-2582insCACGAA	NM_001374811.1:c.924-2583_924-2582insCAAGAA
RGS7 transcript variant 15	NM_001374812.1:c.1008-2583=	NM_001374812.1:c.1008-2583_1008-2582insGA	NM_001374812.1:c.1008-2583_1008-2582insGAA	NM_001374812.1:c.1008-2583_1008-2582insCATGAA	NM_001374812.1:c.1008-2583_1008-2582insCACGAA	NM_001374812.1:c.1008-2583_1008-2582insCAAGAA
RGS7 transcript variant 17	NM_001374813.1:c.570-2583=	NM_001374813.1:c.570-2583_570-2582insGA	NM_001374813.1:c.570-2583_570-2582insGAA	NM_001374813.1:c.570-2583_570-2582insCATGAA	NM_001374813.1:c.570-2583_570-2582insCACGAA	NM_001374813.1:c.570-2583_570-2582insCAAGAA
RGS7 transcript variant 18	NM_001374814.1:c.924-2583=	NM_001374814.1:c.924-2583_924-2582insGA	NM_001374814.1:c.924-2583_924-2582insGAA	NM_001374814.1:c.924-2583_924-2582insCATGAA	NM_001374814.1:c.924-2583_924-2582insCACGAA	NM_001374814.1:c.924-2583_924-2582insCAAGAA
RGS7 transcript variant 19	NM_001374815.1:c.972-2583=	NM_001374815.1:c.972-2583_972-2582insGA	NM_001374815.1:c.972-2583_972-2582insGAA	NM_001374815.1:c.972-2583_972-2582insCATGAA	NM_001374815.1:c.972-2583_972-2582insCACGAA	NM_001374815.1:c.972-2583_972-2582insCAAGAA
RGS7 transcript variant 20	NM_001374816.1:c.972-2583=	NM_001374816.1:c.972-2583_972-2582insGA	NM_001374816.1:c.972-2583_972-2582insGAA	NM_001374816.1:c.972-2583_972-2582insCATGAA	NM_001374816.1:c.972-2583_972-2582insCACGAA	NM_001374816.1:c.972-2583_972-2582insCAAGAA
RGS7 transcript	NM_002924.4:c.1083-2583=	NM_002924.4:c.1083-2583_1083-2582insGA	NM_002924.4:c.1083-2583_1083-2582insGAA	NM_002924.4:c.1083-2583_1083-2582insCATGAA	NM_002924.4:c.1083-2583_1083-2582insCACGAA	NM_002924.4:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant 1	NM_002924.6:c.1083-2583=	NM_002924.6:c.1083-2583_1083-2582insGA	NM_002924.6:c.1083-2583_1083-2582insGAA	NM_002924.6:c.1083-2583_1083-2582insCATGAA	NM_002924.6:c.1083-2583_1083-2582insCACGAA	NM_002924.6:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant X1	XM_005273218.1:c.1083-2583=	XM_005273218.1:c.1083-2583_1083-2582insGA	XM_005273218.1:c.1083-2583_1083-2582insGAA	XM_005273218.1:c.1083-2583_1083-2582insCATGAA	XM_005273218.1:c.1083-2583_1083-2582insCACGAA	XM_005273218.1:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant X2	XM_005273219.1:c.1083-2583=	XM_005273219.1:c.1083-2583_1083-2582insGA	XM_005273219.1:c.1083-2583_1083-2582insGAA	XM_005273219.1:c.1083-2583_1083-2582insCATGAA	XM_005273219.1:c.1083-2583_1083-2582insCACGAA	XM_005273219.1:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant X3	XM_005273220.1:c.1083-2583=	XM_005273220.1:c.1083-2583_1083-2582insGA	XM_005273220.1:c.1083-2583_1083-2582insGAA	XM_005273220.1:c.1083-2583_1083-2582insCATGAA	XM_005273220.1:c.1083-2583_1083-2582insCACGAA	XM_005273220.1:c.1083-2583_1083-2582insCAAGAA
RGS7 transcript variant X4	XM_005273221.1:c.1005-2583=	XM_005273221.1:c.1005-2583_1005-2582insGA	XM_005273221.1:c.1005-2583_1005-2582insGAA	XM_005273221.1:c.1005-2583_1005-2582insCATGAA	XM_005273221.1:c.1005-2583_1005-2582insCACGAA	XM_005273221.1:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant X5	XM_005273222.1:c.924-2583=	XM_005273222.1:c.924-2583_924-2582insGA	XM_005273222.1:c.924-2583_924-2582insGAA	XM_005273222.1:c.924-2583_924-2582insCATGAA	XM_005273222.1:c.924-2583_924-2582insCACGAA	XM_005273222.1:c.924-2583_924-2582insCAAGAA
RGS7 transcript variant X6	XM_005273223.1:c.924-2583=	XM_005273223.1:c.924-2583_924-2582insGA	XM_005273223.1:c.924-2583_924-2582insGAA	XM_005273223.1:c.924-2583_924-2582insCATGAA	XM_005273223.1:c.924-2583_924-2582insCACGAA	XM_005273223.1:c.924-2583_924-2582insCAAGAA
RGS7 transcript variant X2	XM_017002009.2:c.1005-2583=	XM_017002009.2:c.1005-2583_1005-2582insGA	XM_017002009.2:c.1005-2583_1005-2582insGAA	XM_017002009.2:c.1005-2583_1005-2582insCATGAA	XM_017002009.2:c.1005-2583_1005-2582insCACGAA	XM_017002009.2:c.1005-2583_1005-2582insCAAGAA
RGS7 transcript variant X1	XM_047426980.1:c.1005-2583=	XM_047426980.1:c.1005-2583_1005-2582insGA	XM_047426980.1:c.1005-2583_1005-2582insGAA	XM_047426980.1:c.1005-2583_1005-2582insCATGAA	XM_047426980.1:c.1005-2583_1005-2582insCACGAA	XM_047426980.1:c.1005-2583_1005-2582insCAAGAA

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, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82859650	Dec 16, 2007 (130)
2	HGSV	ss82897782	Dec 16, 2007 (130)
3	1000GENOMES	ss326207095	May 09, 2011 (135)
4	SSMP	ss663172072	Apr 01, 2015 (144)
5	BILGI_BIOE	ss666133219	Apr 25, 2013 (138)
6	1000GENOMES	ss1368060990	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1574118887	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1702002241	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1702002244	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1702002245	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1702002248	Apr 01, 2015 (144)
12	JJLAB	ss2030386588	Sep 14, 2016 (149)
13	SWEGEN	ss2988734901	Nov 08, 2017 (151)
14	MCHAISSO	ss3063633327	Nov 08, 2017 (151)
15	MCHAISSO	ss3063633328	Nov 08, 2017 (151)
16	MCHAISSO	ss3064452026	Nov 08, 2017 (151)
17	MCHAISSO	ss3065358887	Nov 08, 2017 (151)
18	BEROUKHIMLAB	ss3644082227	Oct 11, 2018 (152)
19	URBANLAB	ss3646926206	Oct 11, 2018 (152)
20	EGCUT_WGS	ss3656696038	Jul 12, 2019 (153)
21	ACPOP	ss3728017511	Jul 12, 2019 (153)
22	PACBIO	ss3783736493	Jul 12, 2019 (153)
23	PACBIO	ss3789341431	Jul 12, 2019 (153)
24	PACBIO	ss3794213892	Jul 12, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3800555098	Jul 12, 2019 (153)
26	EVA	ss3826737128	Apr 25, 2020 (154)
27	EVA	ss3836771316	Apr 25, 2020 (154)
28	KOGIC	ss3946843449	Apr 25, 2020 (154)
29	GNOMAD	ss4014207453	Apr 25, 2021 (155)
30	GNOMAD	ss4014207454	Apr 25, 2021 (155)
31	GNOMAD	ss4014207455	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5149211835	Apr 25, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5246394607	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5446774733	Oct 12, 2022 (156)
35	EVA	ss5506249205	Oct 12, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5520789662	Oct 12, 2022 (156)
37	SANFORD_IMAGENETICS	ss5627790463	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5677197542	Oct 12, 2022 (156)
39	YY_MCH	ss5801794203	Oct 12, 2022 (156)
40	EVA	ss5833507044	Oct 12, 2022 (156)
41	EVA	ss5833507045	Oct 12, 2022 (156)
42	EVA	ss5849365109	Oct 12, 2022 (156)
43	EVA	ss5912661495	Oct 12, 2022 (156)
44	1000Genomes	NC_000001.10 - 240972209	Oct 11, 2018 (152)
45	1000Genomes_30x	NC_000001.11 - 240808909	Oct 12, 2022 (156)
46	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3442037 (NC_000001.10:240972208:: 868/3854, NC_000001.10:240972208::TTCATG 2986/3854) Row 3442038 (NC_000001.10:240972208:: 3849/3854, NC_000001.10:240972208::TTC 5/3854)	-	Oct 11, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3442037 (NC_000001.10:240972208:: 868/3854, NC_000001.10:240972208::TTCATG 2986/3854) Row 3442038 (NC_000001.10:240972208:: 3849/3854, NC_000001.10:240972208::TTC 5/3854)	-	Oct 11, 2018 (152)
48	Genetic variation in the Estonian population	NC_000001.10 - 240972209	Oct 11, 2018 (152)
49	The Danish reference pan genome	NC_000001.10 - 240972209	Apr 25, 2020 (154)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 44447752 (NC_000001.11:240808908::TC 1/139468) Row 44447753 (NC_000001.11:240808908::TTC 99706/139364) Row 44447754 (NC_000001.11:240808908::TTCTTG 1/139468)	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 44447752 (NC_000001.11:240808908::TC 1/139468) Row 44447753 (NC_000001.11:240808908::TTC 99706/139364) Row 44447754 (NC_000001.11:240808908::TTCTTG 1/139468)	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 44447752 (NC_000001.11:240808908::TC 1/139468) Row 44447753 (NC_000001.11:240808908::TTC 99706/139364) Row 44447754 (NC_000001.11:240808908::TTCTTG 1/139468)	-	Apr 25, 2021 (155)
53	Korean Genome Project	NC_000001.11 - 240808909	Apr 25, 2020 (154)
54	Northern Sweden	NC_000001.10 - 240972209	Jul 12, 2019 (153)
55	8.3KJPN	NC_000001.10 - 240972209	Apr 25, 2021 (155)
56	14KJPN	NC_000001.11 - 240808909	Oct 12, 2022 (156)
57	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3442037 (NC_000001.10:240972208:: 884/3708, NC_000001.10:240972208::TTCATG 2824/3708) Row 3442038 (NC_000001.10:240972208:: 3699/3708, NC_000001.10:240972208::TTC 9/3708)	-	Oct 11, 2018 (152)
58	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3442037 (NC_000001.10:240972208:: 884/3708, NC_000001.10:240972208::TTCATG 2824/3708) Row 3442038 (NC_000001.10:240972208:: 3699/3708, NC_000001.10:240972208::TTC 9/3708)	-	Oct 11, 2018 (152)
59	ALFA	NC_000001.11 - 240808909	Apr 25, 2021 (155)

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

Associated ID	History Updated (Build)
rs61289145	May 25, 2008 (130)
rs143978986	Oct 04, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4014207453	NC_000001.11:240808908::TC	NC_000001.11:240808908::TC	(self)
6211569, 2434286, 210942, 1302376, 7181142, ss666133219, ss1368060990, ss1574118887, ss1702002245, ss1702002248, ss2030386588, ss2988734901, ss3656696038, ss3728017511, ss3783736493, ss3789341431, ss3794213892, ss3826737128, ss3836771316, ss5149211835, ss5506249205, ss5627790463, ss5833507045	NC_000001.10:240972208::TTC	NC_000001.11:240808908::TTC	(self)
8315597, 3221450, 11034646, 11954145973, ss3063633327, ss3063633328, ss3064452026, ss3065358887, ss3646926206, ss3800555098, ss3946843449, ss4014207454, ss5246394607, ss5446774733, ss5520789662, ss5677197542, ss5801794203, ss5849365109	NC_000001.11:240808908::TTC	NC_000001.11:240808908::TTC	(self)
ss82859650, ss82897782	NT_167186.1:34489987::TTC	NC_000001.11:240808908::TTC	(self)
ss326207095	NC_000001.9:239038831::TTCATG	NC_000001.11:240808908::TTCATG	(self)
ss663172072, ss1702002241, ss1702002244, ss3644082227	NC_000001.10:240972208::TTCATG	NC_000001.11:240808908::TTCATG	(self)
11954145973, ss5912661495	NC_000001.11:240808908::TTCATG	NC_000001.11:240808908::TTCATG	(self)
ss5833507044	NC_000001.10:240972208::TTCGTG	NC_000001.11:240808908::TTCGTG
11954145973, ss4014207455	NC_000001.11:240808908::TTCTTG	NC_000001.11:240808908::TTCTTG	(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 rs5782162

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5782162