Name: rs56708545
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.

rs56708545

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:212372283-212372294 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₈ / del(A)₇ / del(A)₆ / del(…
del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₂=0.2059 (1031/5008, 1000G)
(A)₁₂=0.1819 (701/3854, ALSPAC)
(A)₁₂=0.1688 (626/3708, TWINSUK) (+ 10 more)
(A)₁₂=0.2440 (446/1828, Korea1K)
(A)₁₂=0.262 (139/530, NorthernSweden)
del(A)₈=0.000 (0/482, ALFA)
del(A)₇=0.000 (0/482, ALFA)
del(A)₆=0.000 (0/482, ALFA)
del(A)₅=0.000 (0/482, ALFA)
delAA=0.000 (0/482, ALFA)
delA=0.000 (0/482, ALFA)
dupA=0.000 (0/482, ALFA)
(A)₁₂=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PACC1 : 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	482	AAAAAAAAAAAA=1.000	AAAA=0.000, AAAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	396	AAAAAAAAAAAA=1.000	AAAA=0.000, AAAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	34	AAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAA=0	AAAA=0, AAAAA=0, AAAAAA=0, AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	34	AAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	18	AAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	18	AAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₁₂=0.2059	delA=0.7941
1000Genomes	African	Sub	1322	(A)₁₂=0.1120	delA=0.8880
1000Genomes	East Asian	Sub	1008	(A)₁₂=0.2212	delA=0.7788
1000Genomes	Europe	Sub	1006	(A)₁₂=0.2127	delA=0.7873
1000Genomes	South Asian	Sub	978	(A)₁₂=0.321	delA=0.679
1000Genomes	American	Sub	694	(A)₁₂=0.190	delA=0.810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₂=0.1819	delA=0.8181
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₂=0.1688	delA=0.8312
Korean Genome Project	KOREAN	Study-wide	1828	(A)₁₂=0.2440	delA=0.7560
Northern Sweden	ACPOP	Study-wide	530	(A)₁₂=0.262	delA=0.738
Allele Frequency Aggregator	Total	Global	482	(A)₁₂=1.000	del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	European	Sub	396	(A)₁₂=1.000	del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	African	Sub	34	(A)₁₂=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	18	(A)₁₂=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Other	Sub	18	(A)₁₂=1.00	del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(A)₁₂=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₁₂=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₁₂=1.0	del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAA=0.0, delA=0.0, dupA=0.0
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₂=0.20	delA=0.80

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.212372287_212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372288_212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372289_212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372290_212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372292_212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372293_212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372294del
GRCh38.p14 chr 1	NC_000001.11:g.212372294dup
GRCh38.p14 chr 1	NC_000001.11:g.212372293_212372294dup
GRCh37.p13 chr 1	NC_000001.10:g.212545629_212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545630_212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545631_212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545632_212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545634_212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545635_212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545636del
GRCh37.p13 chr 1	NC_000001.10:g.212545636dup
GRCh37.p13 chr 1	NC_000001.10:g.212545635_212545636dup

Gene: PACC1, proton activated chloride channel 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PACC1 transcript variant 1	NM_001198862.2:c.1074+290… NM_001198862.2:c.1074+2903_1074+2910del	N/A	Intron Variant
PACC1 transcript variant 3	NM_001377478.1:c.681+2903… NM_001377478.1:c.681+2903_681+2910del	N/A	Intron Variant
PACC1 transcript variant 4	NM_001377479.1:c.660+2903… NM_001377479.1:c.660+2903_660+2910del	N/A	Intron Variant
PACC1 transcript variant 5	NM_001377480.1:c.746+2903… NM_001377480.1:c.746+2903_746+2910del	N/A	Intron Variant
PACC1 transcript variant 2	NM_018252.3:c.891+2903_89… NM_018252.3:c.891+2903_891+2910del	N/A	Intron Variant
PACC1 transcript variant 6	NR_165303.1:n.	N/A	Intron Variant
PACC1 transcript variant X2	XM_011509718.4:c.515+2903… XM_011509718.4:c.515+2903_515+2910del	N/A	Intron Variant
PACC1 transcript variant X1	XM_047424316.1:c.552+5272… XM_047424316.1:c.552+5272_552+5279del	N/A	Intron Variant
PACC1 transcript variant X3	XM_047424317.1:c.783+5272… XM_047424317.1:c.783+5272_783+5279del	N/A	Intron Variant
PACC1 transcript variant X4	XM_047424318.1:c.408-6914… XM_047424318.1:c.408-6914_408-6907del	N/A	Intron Variant
PACC1 transcript variant X5	XM_047424319.1:c.552+5272… XM_047424319.1:c.552+5272_552+5279del	N/A	Intron Variant
PACC1 transcript variant X6	XM_047424320.1:c.639-6914… XM_047424320.1:c.639-6914_639-6907del	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₁₂=	del(A)₈	del(A)₇	del(A)₆	del(A)₅	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 1	NC_000001.11:g.212372283_212372294=	NC_000001.11:g.212372287_212372294del	NC_000001.11:g.212372288_212372294del	NC_000001.11:g.212372289_212372294del	NC_000001.11:g.212372290_212372294del	NC_000001.11:g.212372292_212372294del	NC_000001.11:g.212372293_212372294del	NC_000001.11:g.212372294del	NC_000001.11:g.212372294dup	NC_000001.11:g.212372293_212372294dup
GRCh37.p13 chr 1	NC_000001.10:g.212545625_212545636=	NC_000001.10:g.212545629_212545636del	NC_000001.10:g.212545630_212545636del	NC_000001.10:g.212545631_212545636del	NC_000001.10:g.212545632_212545636del	NC_000001.10:g.212545634_212545636del	NC_000001.10:g.212545635_212545636del	NC_000001.10:g.212545636del	NC_000001.10:g.212545636dup	NC_000001.10:g.212545635_212545636dup
PACC1 transcript variant 1	NM_001198862.1:c.1074+2910=	NM_001198862.1:c.1074+2903_1074+2910del	NM_001198862.1:c.1074+2904_1074+2910del	NM_001198862.1:c.1074+2905_1074+2910del	NM_001198862.1:c.1074+2906_1074+2910del	NM_001198862.1:c.1074+2908_1074+2910del	NM_001198862.1:c.1074+2909_1074+2910del	NM_001198862.1:c.1074+2910del	NM_001198862.1:c.1074+2910dup	NM_001198862.1:c.1074+2909_1074+2910dup
PACC1 transcript variant 1	NM_001198862.2:c.1074+2910=	NM_001198862.2:c.1074+2903_1074+2910del	NM_001198862.2:c.1074+2904_1074+2910del	NM_001198862.2:c.1074+2905_1074+2910del	NM_001198862.2:c.1074+2906_1074+2910del	NM_001198862.2:c.1074+2908_1074+2910del	NM_001198862.2:c.1074+2909_1074+2910del	NM_001198862.2:c.1074+2910del	NM_001198862.2:c.1074+2910dup	NM_001198862.2:c.1074+2909_1074+2910dup
PACC1 transcript variant 3	NM_001377478.1:c.681+2910=	NM_001377478.1:c.681+2903_681+2910del	NM_001377478.1:c.681+2904_681+2910del	NM_001377478.1:c.681+2905_681+2910del	NM_001377478.1:c.681+2906_681+2910del	NM_001377478.1:c.681+2908_681+2910del	NM_001377478.1:c.681+2909_681+2910del	NM_001377478.1:c.681+2910del	NM_001377478.1:c.681+2910dup	NM_001377478.1:c.681+2909_681+2910dup
PACC1 transcript variant 4	NM_001377479.1:c.660+2910=	NM_001377479.1:c.660+2903_660+2910del	NM_001377479.1:c.660+2904_660+2910del	NM_001377479.1:c.660+2905_660+2910del	NM_001377479.1:c.660+2906_660+2910del	NM_001377479.1:c.660+2908_660+2910del	NM_001377479.1:c.660+2909_660+2910del	NM_001377479.1:c.660+2910del	NM_001377479.1:c.660+2910dup	NM_001377479.1:c.660+2909_660+2910dup
PACC1 transcript variant 5	NM_001377480.1:c.746+2910=	NM_001377480.1:c.746+2903_746+2910del	NM_001377480.1:c.746+2904_746+2910del	NM_001377480.1:c.746+2905_746+2910del	NM_001377480.1:c.746+2906_746+2910del	NM_001377480.1:c.746+2908_746+2910del	NM_001377480.1:c.746+2909_746+2910del	NM_001377480.1:c.746+2910del	NM_001377480.1:c.746+2910dup	NM_001377480.1:c.746+2909_746+2910dup
PACC1 transcript variant 2	NM_018252.2:c.891+2910=	NM_018252.2:c.891+2903_891+2910del	NM_018252.2:c.891+2904_891+2910del	NM_018252.2:c.891+2905_891+2910del	NM_018252.2:c.891+2906_891+2910del	NM_018252.2:c.891+2908_891+2910del	NM_018252.2:c.891+2909_891+2910del	NM_018252.2:c.891+2910del	NM_018252.2:c.891+2910dup	NM_018252.2:c.891+2909_891+2910dup
PACC1 transcript variant 2	NM_018252.3:c.891+2910=	NM_018252.3:c.891+2903_891+2910del	NM_018252.3:c.891+2904_891+2910del	NM_018252.3:c.891+2905_891+2910del	NM_018252.3:c.891+2906_891+2910del	NM_018252.3:c.891+2908_891+2910del	NM_018252.3:c.891+2909_891+2910del	NM_018252.3:c.891+2910del	NM_018252.3:c.891+2910dup	NM_018252.3:c.891+2909_891+2910dup
TMEM206 transcript variant X1	XM_005273177.1:c.660+2910=	XM_005273177.1:c.660+2903_660+2910del	XM_005273177.1:c.660+2904_660+2910del	XM_005273177.1:c.660+2905_660+2910del	XM_005273177.1:c.660+2906_660+2910del	XM_005273177.1:c.660+2908_660+2910del	XM_005273177.1:c.660+2909_660+2910del	XM_005273177.1:c.660+2910del	XM_005273177.1:c.660+2910dup	XM_005273177.1:c.660+2909_660+2910dup
PACC1 transcript variant X2	XM_011509718.4:c.515+2910=	XM_011509718.4:c.515+2903_515+2910del	XM_011509718.4:c.515+2904_515+2910del	XM_011509718.4:c.515+2905_515+2910del	XM_011509718.4:c.515+2906_515+2910del	XM_011509718.4:c.515+2908_515+2910del	XM_011509718.4:c.515+2909_515+2910del	XM_011509718.4:c.515+2910del	XM_011509718.4:c.515+2910dup	XM_011509718.4:c.515+2909_515+2910dup
PACC1 transcript variant X1	XM_047424316.1:c.552+5279=	XM_047424316.1:c.552+5272_552+5279del	XM_047424316.1:c.552+5273_552+5279del	XM_047424316.1:c.552+5274_552+5279del	XM_047424316.1:c.552+5275_552+5279del	XM_047424316.1:c.552+5277_552+5279del	XM_047424316.1:c.552+5278_552+5279del	XM_047424316.1:c.552+5279del	XM_047424316.1:c.552+5279dup	XM_047424316.1:c.552+5278_552+5279dup
PACC1 transcript variant X3	XM_047424317.1:c.783+5279=	XM_047424317.1:c.783+5272_783+5279del	XM_047424317.1:c.783+5273_783+5279del	XM_047424317.1:c.783+5274_783+5279del	XM_047424317.1:c.783+5275_783+5279del	XM_047424317.1:c.783+5277_783+5279del	XM_047424317.1:c.783+5278_783+5279del	XM_047424317.1:c.783+5279del	XM_047424317.1:c.783+5279dup	XM_047424317.1:c.783+5278_783+5279dup
PACC1 transcript variant X4	XM_047424318.1:c.408-6907=	XM_047424318.1:c.408-6914_408-6907del	XM_047424318.1:c.408-6913_408-6907del	XM_047424318.1:c.408-6912_408-6907del	XM_047424318.1:c.408-6911_408-6907del	XM_047424318.1:c.408-6909_408-6907del	XM_047424318.1:c.408-6908_408-6907del	XM_047424318.1:c.408-6907del	XM_047424318.1:c.408-6907dup	XM_047424318.1:c.408-6908_408-6907dup
PACC1 transcript variant X5	XM_047424319.1:c.552+5279=	XM_047424319.1:c.552+5272_552+5279del	XM_047424319.1:c.552+5273_552+5279del	XM_047424319.1:c.552+5274_552+5279del	XM_047424319.1:c.552+5275_552+5279del	XM_047424319.1:c.552+5277_552+5279del	XM_047424319.1:c.552+5278_552+5279del	XM_047424319.1:c.552+5279del	XM_047424319.1:c.552+5279dup	XM_047424319.1:c.552+5278_552+5279dup
PACC1 transcript variant X6	XM_047424320.1:c.639-6907=	XM_047424320.1:c.639-6914_639-6907del	XM_047424320.1:c.639-6913_639-6907del	XM_047424320.1:c.639-6912_639-6907del	XM_047424320.1:c.639-6911_639-6907del	XM_047424320.1:c.639-6909_639-6907del	XM_047424320.1:c.639-6908_639-6907del	XM_047424320.1:c.639-6907del	XM_047424320.1:c.639-6907dup	XM_047424320.1:c.639-6908_639-6907dup

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#.

55 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83328214	Sep 08, 2015 (146)
2	BUSHMAN	ss193149340	Jul 04, 2010 (137)
3	GMI	ss288088669	May 04, 2012 (137)
4	PJP	ss294624096	May 09, 2011 (134)
5	SSMP	ss663154833	Apr 01, 2015 (144)
6	BILGI_BIOE	ss666125800	Apr 25, 2013 (138)
7	1000GENOMES	ss1367989914	Aug 21, 2014 (142)
8	DDI	ss1536263732	Apr 01, 2015 (144)
9	EVA_GENOME_DK	ss1574089381	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1701743053	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1701743070	Apr 01, 2015 (144)
12	HAMMER_LAB	ss1795689099	Sep 08, 2015 (146)
13	SYSTEMSBIOZJU	ss2624604817	Nov 08, 2017 (151)
14	SWEGEN	ss2988399764	Nov 08, 2017 (151)
15	MCHAISSO	ss3063624938	Nov 08, 2017 (151)
16	MCHAISSO	ss3064442558	Nov 08, 2017 (151)
17	MCHAISSO	ss3065348592	Nov 08, 2017 (151)
18	BIOINF_KMB_FNS_UNIBA	ss3645095774	Oct 11, 2018 (152)
19	URBANLAB	ss3646880112	Oct 11, 2018 (152)
20	EVA_DECODE	ss3688570225	Jul 12, 2019 (153)
21	EVA_DECODE	ss3688570226	Jul 12, 2019 (153)
22	EVA_DECODE	ss3688570227	Jul 12, 2019 (153)
23	EVA_DECODE	ss3688570228	Jul 12, 2019 (153)
24	ACPOP	ss3727835465	Jul 12, 2019 (153)
25	PACBIO	ss3783679166	Jul 12, 2019 (153)
26	PACBIO	ss3789292710	Jul 12, 2019 (153)
27	PACBIO	ss3794164994	Jul 12, 2019 (153)
28	KHV_HUMAN_GENOMES	ss3800302351	Jul 12, 2019 (153)
29	EVA	ss3826627269	Apr 25, 2020 (154)
30	EVA	ss3836714446	Apr 25, 2020 (154)
31	EVA	ss3842126067	Apr 25, 2020 (154)
32	KOGIC	ss3946434089	Apr 25, 2020 (154)
33	GNOMAD	ss4010768391	Apr 25, 2021 (155)
34	GNOMAD	ss4010768392	Apr 25, 2021 (155)
35	GNOMAD	ss4010768393	Apr 25, 2021 (155)
36	GNOMAD	ss4010768394	Apr 25, 2021 (155)
37	GNOMAD	ss4010768395	Apr 25, 2021 (155)
38	GNOMAD	ss4010768396	Apr 25, 2021 (155)
39	GNOMAD	ss4010768397	Apr 25, 2021 (155)
40	GNOMAD	ss4010768398	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5148294188	Apr 25, 2021 (155)
42	TOMMO_GENOMICS	ss5148294189	Apr 25, 2021 (155)
43	TOMMO_GENOMICS	ss5148294190	Apr 25, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5245690084	Oct 12, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5245690085	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5446136333	Oct 12, 2022 (156)
47	EVA	ss5506176295	Oct 12, 2022 (156)
48	TOMMO_GENOMICS	ss5676016497	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5676016498	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5676016499	Oct 12, 2022 (156)
51	YY_MCH	ss5801611236	Oct 12, 2022 (156)
52	EVA	ss5833218529	Oct 12, 2022 (156)
53	EVA	ss5849271372	Oct 12, 2022 (156)
54	EVA	ss5911850689	Oct 12, 2022 (156)
55	EVA	ss5939221822	Oct 12, 2022 (156)
56	1000Genomes	NC_000001.10 - 212545625	Oct 11, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 212545625	Oct 11, 2018 (152)
58	The Danish reference pan genome	NC_000001.10 - 212545625	Apr 25, 2020 (154)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 38687596 (NC_000001.11:212372282::A 29/120352) Row 38687597 (NC_000001.11:212372282:A: 98689/120198) Row 38687598 (NC_000001.11:212372282:AA: 18/120354)...	-	Apr 25, 2021 (155)
67	Korean Genome Project	NC_000001.11 - 212372283	Apr 25, 2020 (154)
68	Northern Sweden	NC_000001.10 - 212545625	Jul 12, 2019 (153)
69	8.3KJPN Submission ignored due to conflicting rows: Row 6263495 (NC_000001.10:212545624:A: 12998/16760) Row 6263496 (NC_000001.10:212545624:AA: 8/16760) Row 6263497 (NC_000001.10:212545624::A 2/16760)	-	Apr 25, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 6263495 (NC_000001.10:212545624:A: 12998/16760) Row 6263496 (NC_000001.10:212545624:AA: 8/16760) Row 6263497 (NC_000001.10:212545624::A 2/16760)	-	Apr 25, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 6263495 (NC_000001.10:212545624:A: 12998/16760) Row 6263496 (NC_000001.10:212545624:AA: 8/16760) Row 6263497 (NC_000001.10:212545624::A 2/16760)	-	Apr 25, 2021 (155)
72	14KJPN Submission ignored due to conflicting rows: Row 9853601 (NC_000001.11:212372282:A: 19263/26170) Row 9853602 (NC_000001.11:212372282:AA: 11/26170) Row 9853603 (NC_000001.11:212372282::A 1/26170)	-	Oct 12, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 9853601 (NC_000001.11:212372282:A: 19263/26170) Row 9853602 (NC_000001.11:212372282:AA: 11/26170) Row 9853603 (NC_000001.11:212372282::A 1/26170)	-	Oct 12, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 9853601 (NC_000001.11:212372282:A: 19263/26170) Row 9853602 (NC_000001.11:212372282:AA: 11/26170) Row 9853603 (NC_000001.11:212372282::A 1/26170)	-	Oct 12, 2022 (156)
75	UK 10K study - Twins	NC_000001.10 - 212545625	Oct 11, 2018 (152)
76	ALFA	NC_000001.11 - 212372283	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)
rs113917143	May 11, 2012 (137)
rs368720487	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4010768398	NC_000001.11:212372282:AAAAAAAA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAA	(self)
ss4010768397, ss5245690085	NC_000001.11:212372282:AAAAAAA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAA	(self)
ss4010768396	NC_000001.11:212372282:AAAAAA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAA	(self)
ss4010768395	NC_000001.11:212372282:AAAAA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAA	(self)
ss4010768394	NC_000001.11:212372282:AAA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAA	(self)
ss5148294189	NC_000001.10:212545624:AA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3688570228, ss4010768393, ss5676016498	NC_000001.11:212372282:AA:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss83328214	NC_000001.8:208934030:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss288088669	NC_000001.9:210612247:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss294624096	NC_000001.9:210612258:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
5376841, 2966249, 198102, 1120330, 2966249, ss663154833, ss666125800, ss1367989914, ss1536263732, ss1574089381, ss1701743053, ss1701743070, ss1795689099, ss2624604817, ss2988399764, ss3727835465, ss3783679166, ss3789292710, ss3794164994, ss3826627269, ss3836714446, ss5148294188, ss5506176295, ss5833218529, ss5939221822	NC_000001.10:212545624:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
2812090, ss3063624938, ss3064442558, ss3065348592, ss3645095774, ss3646880112, ss3800302351, ss3842126067, ss3946434089, ss4010768392, ss5245690084, ss5446136333, ss5676016497, ss5801611236, ss5849271372, ss5911850689	NC_000001.11:212372282:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3688570227	NC_000001.11:212372283:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss193149340	NT_004487.20:69187695:A:	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5148294190	NC_000001.10:212545624::A	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4010768391, ss5676016499	NC_000001.11:212372282::A	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8014718921	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3688570226	NC_000001.11:212372284::A	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3688570225	NC_000001.11:212372284::AA	NC_000001.11:212372282:AAAAAAAAAAA… NC_000001.11:212372282:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(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 rs56708545

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

rs56708545