Name: rs56145835
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.

rs56145835

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:235763301-235763313 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.00714 (106/14843, ALFA)
dupA=0.018 (11/600, NorthernSweden)
dupA=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AGAP1 : Intron Variant
LOC105373942 : 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	14843	AAAAAAAAAAAAA=0.99286	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00714, AAAAAAAAAAAAAAA=0.00000	0.98584	0.000135	0.014026	1
European	Sub	11715	AAAAAAAAAAAAA=0.99095	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00905, AAAAAAAAAAAAAAA=0.00000	0.982054	0.000171	0.017775	0
African	Sub	1800	AAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	58	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1742	AAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	106	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	82	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	132	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	586	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	94	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	410	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	14843	(A)₁₃=0.99286	delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00714, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	11715	(A)₁₃=0.99095	delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00905, dupAA=0.00000
Allele Frequency Aggregator	African	Sub	1800	(A)₁₃=1.0000	delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	586	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	410	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Asian	Sub	106	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(A)₁₃=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupA=0.018
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.15

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 2	NC_000002.12:g.235763311_235763313del
GRCh38.p14 chr 2	NC_000002.12:g.235763312_235763313del
GRCh38.p14 chr 2	NC_000002.12:g.235763313del
GRCh38.p14 chr 2	NC_000002.12:g.235763313dup
GRCh38.p14 chr 2	NC_000002.12:g.235763312_235763313dup
GRCh37.p13 chr 2	NC_000002.11:g.236671955_236671957del
GRCh37.p13 chr 2	NC_000002.11:g.236671956_236671957del
GRCh37.p13 chr 2	NC_000002.11:g.236671957del
GRCh37.p13 chr 2	NC_000002.11:g.236671957dup
GRCh37.p13 chr 2	NC_000002.11:g.236671956_236671957dup
AGAP1 RefSeqGene	NG_030314.1:g.274223_274225del
AGAP1 RefSeqGene	NG_030314.1:g.274224_274225del
AGAP1 RefSeqGene	NG_030314.1:g.274225del
AGAP1 RefSeqGene	NG_030314.1:g.274225dup
AGAP1 RefSeqGene	NG_030314.1:g.274224_274225dup

Gene: AGAP1, ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AGAP1 transcript variant 1	NM_001037131.3:c.673+1282… NM_001037131.3:c.673+12823_673+12825del	N/A	Intron Variant
AGAP1 transcript variant 3	NM_001244888.2:c.673+1282… NM_001244888.2:c.673+12823_673+12825del	N/A	Intron Variant
AGAP1 transcript variant 2	NM_014914.5:c.673+12823_6… NM_014914.5:c.673+12823_673+12825del	N/A	Intron Variant
AGAP1 transcript variant X17	XM_005246059.5:c.685+1282… XM_005246059.5:c.685+12823_685+12825del	N/A	Intron Variant
AGAP1 transcript variant X13	XM_006712234.4:c.685+1282… XM_006712234.4:c.685+12823_685+12825del	N/A	Intron Variant
AGAP1 transcript variant X14	XM_006712235.4:c.673+1282… XM_006712235.4:c.673+12823_673+12825del	N/A	Intron Variant
AGAP1 transcript variant X2	XM_006712237.4:c.1468+128… XM_006712237.4:c.1468+12823_1468+12825del	N/A	Intron Variant
AGAP1 transcript variant X1	XM_006712239.4:c.1480+128… XM_006712239.4:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X3	XM_011510547.3:c.1480+128… XM_011510547.3:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X7	XM_011510548.3:c.1480+128… XM_011510548.3:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X10	XM_011510549.3:c.1480+128… XM_011510549.3:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X5	XM_017003282.2:c.1345+184… XM_017003282.2:c.1345+18472_1345+18474del	N/A	Intron Variant
AGAP1 transcript variant X8	XM_024452672.2:c.1468+128… XM_024452672.2:c.1468+12823_1468+12825del	N/A	Intron Variant
AGAP1 transcript variant X15	XM_024452676.2:c.1480+128… XM_024452676.2:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X20	XM_024452678.2:c.1480+128… XM_024452678.2:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X22	XM_024452679.2:c.1480+128… XM_024452679.2:c.1480+12823_1480+12825del	N/A	Intron Variant
AGAP1 transcript variant X4	XM_047443190.1:c.1468+128… XM_047443190.1:c.1468+12823_1468+12825del	N/A	Intron Variant
AGAP1 transcript variant X6	XM_047443191.1:c.1333+184… XM_047443191.1:c.1333+18472_1333+18474del	N/A	Intron Variant
AGAP1 transcript variant X9	XM_047443192.1:c.1345+184… XM_047443192.1:c.1345+18472_1345+18474del	N/A	Intron Variant
AGAP1 transcript variant X11	XM_047443193.1:c.1468+128… XM_047443193.1:c.1468+12823_1468+12825del	N/A	Intron Variant
AGAP1 transcript variant X12	XM_047443194.1:c.1345+184… XM_047443194.1:c.1345+18472_1345+18474del	N/A	Intron Variant
AGAP1 transcript variant X16	XM_047443195.1:c.538+1847… XM_047443195.1:c.538+18472_538+18474del	N/A	Intron Variant
AGAP1 transcript variant X18	XM_047443196.1:c.1468+128… XM_047443196.1:c.1468+12823_1468+12825del	N/A	Intron Variant
AGAP1 transcript variant X19	XM_047443197.1:c.538+1847… XM_047443197.1:c.538+18472_538+18474del	N/A	Intron Variant
AGAP1 transcript variant X21	XM_047443200.1:c.1468+128… XM_047443200.1:c.1468+12823_1468+12825del	N/A	Intron Variant
AGAP1 transcript variant X23	XM_047443201.1:c.1333+184… XM_047443201.1:c.1333+18472_1333+18474del	N/A	Intron Variant

Gene: LOC105373942, uncharacterized LOC105373942 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105373942 transcript variant X2	XR_001739943.3:n.	N/A	Intron Variant
LOC105373942 transcript variant X1	XR_001739944.2: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	(A)₁₃=	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 2	NC_000002.12:g.235763301_235763313=	NC_000002.12:g.235763311_235763313del	NC_000002.12:g.235763312_235763313del	NC_000002.12:g.235763313del	NC_000002.12:g.235763313dup	NC_000002.12:g.235763312_235763313dup
GRCh37.p13 chr 2	NC_000002.11:g.236671945_236671957=	NC_000002.11:g.236671955_236671957del	NC_000002.11:g.236671956_236671957del	NC_000002.11:g.236671957del	NC_000002.11:g.236671957dup	NC_000002.11:g.236671956_236671957dup
AGAP1 RefSeqGene	NG_030314.1:g.274213_274225=	NG_030314.1:g.274223_274225del	NG_030314.1:g.274224_274225del	NG_030314.1:g.274225del	NG_030314.1:g.274225dup	NG_030314.1:g.274224_274225dup
AGAP1 transcript variant 1	NM_001037131.2:c.673+12813=	NM_001037131.2:c.673+12823_673+12825del	NM_001037131.2:c.673+12824_673+12825del	NM_001037131.2:c.673+12825del	NM_001037131.2:c.673+12825dup	NM_001037131.2:c.673+12824_673+12825dup
AGAP1 transcript variant 1	NM_001037131.3:c.673+12813=	NM_001037131.3:c.673+12823_673+12825del	NM_001037131.3:c.673+12824_673+12825del	NM_001037131.3:c.673+12825del	NM_001037131.3:c.673+12825dup	NM_001037131.3:c.673+12824_673+12825dup
AGAP1 transcript variant 3	NM_001244888.1:c.673+12813=	NM_001244888.1:c.673+12823_673+12825del	NM_001244888.1:c.673+12824_673+12825del	NM_001244888.1:c.673+12825del	NM_001244888.1:c.673+12825dup	NM_001244888.1:c.673+12824_673+12825dup
AGAP1 transcript variant 3	NM_001244888.2:c.673+12813=	NM_001244888.2:c.673+12823_673+12825del	NM_001244888.2:c.673+12824_673+12825del	NM_001244888.2:c.673+12825del	NM_001244888.2:c.673+12825dup	NM_001244888.2:c.673+12824_673+12825dup
AGAP1 transcript variant 2	NM_014914.4:c.673+12813=	NM_014914.4:c.673+12823_673+12825del	NM_014914.4:c.673+12824_673+12825del	NM_014914.4:c.673+12825del	NM_014914.4:c.673+12825dup	NM_014914.4:c.673+12824_673+12825dup
AGAP1 transcript variant 2	NM_014914.5:c.673+12813=	NM_014914.5:c.673+12823_673+12825del	NM_014914.5:c.673+12824_673+12825del	NM_014914.5:c.673+12825del	NM_014914.5:c.673+12825dup	NM_014914.5:c.673+12824_673+12825dup
AGAP1 transcript variant X1	XM_005246058.1:c.685+12813=	XM_005246058.1:c.685+12823_685+12825del	XM_005246058.1:c.685+12824_685+12825del	XM_005246058.1:c.685+12825del	XM_005246058.1:c.685+12825dup	XM_005246058.1:c.685+12824_685+12825dup
AGAP1 transcript variant X2	XM_005246059.1:c.685+12813=	XM_005246059.1:c.685+12823_685+12825del	XM_005246059.1:c.685+12824_685+12825del	XM_005246059.1:c.685+12825del	XM_005246059.1:c.685+12825dup	XM_005246059.1:c.685+12824_685+12825dup
AGAP1 transcript variant X17	XM_005246059.5:c.685+12813=	XM_005246059.5:c.685+12823_685+12825del	XM_005246059.5:c.685+12824_685+12825del	XM_005246059.5:c.685+12825del	XM_005246059.5:c.685+12825dup	XM_005246059.5:c.685+12824_685+12825dup
AGAP1 transcript variant X3	XM_005246060.1:c.271+12813=	XM_005246060.1:c.271+12823_271+12825del	XM_005246060.1:c.271+12824_271+12825del	XM_005246060.1:c.271+12825del	XM_005246060.1:c.271+12825dup	XM_005246060.1:c.271+12824_271+12825dup
AGAP1 transcript variant X4	XM_005246061.1:c.271+12813=	XM_005246061.1:c.271+12823_271+12825del	XM_005246061.1:c.271+12824_271+12825del	XM_005246061.1:c.271+12825del	XM_005246061.1:c.271+12825dup	XM_005246061.1:c.271+12824_271+12825dup
AGAP1 transcript variant X5	XM_005246062.1:c.271+12813=	XM_005246062.1:c.271+12823_271+12825del	XM_005246062.1:c.271+12824_271+12825del	XM_005246062.1:c.271+12825del	XM_005246062.1:c.271+12825dup	XM_005246062.1:c.271+12824_271+12825dup
AGAP1 transcript variant X6	XM_005246063.1:c.373+12813=	XM_005246063.1:c.373+12823_373+12825del	XM_005246063.1:c.373+12824_373+12825del	XM_005246063.1:c.373+12825del	XM_005246063.1:c.373+12825dup	XM_005246063.1:c.373+12824_373+12825dup
AGAP1 transcript variant X7	XM_005246064.1:c.373+12813=	XM_005246064.1:c.373+12823_373+12825del	XM_005246064.1:c.373+12824_373+12825del	XM_005246064.1:c.373+12825del	XM_005246064.1:c.373+12825dup	XM_005246064.1:c.373+12824_373+12825dup
AGAP1 transcript variant X13	XM_006712234.4:c.685+12813=	XM_006712234.4:c.685+12823_685+12825del	XM_006712234.4:c.685+12824_685+12825del	XM_006712234.4:c.685+12825del	XM_006712234.4:c.685+12825dup	XM_006712234.4:c.685+12824_685+12825dup
AGAP1 transcript variant X14	XM_006712235.4:c.673+12813=	XM_006712235.4:c.673+12823_673+12825del	XM_006712235.4:c.673+12824_673+12825del	XM_006712235.4:c.673+12825del	XM_006712235.4:c.673+12825dup	XM_006712235.4:c.673+12824_673+12825dup
AGAP1 transcript variant X2	XM_006712237.4:c.1468+12813=	XM_006712237.4:c.1468+12823_1468+12825del	XM_006712237.4:c.1468+12824_1468+12825del	XM_006712237.4:c.1468+12825del	XM_006712237.4:c.1468+12825dup	XM_006712237.4:c.1468+12824_1468+12825dup
AGAP1 transcript variant X1	XM_006712239.4:c.1480+12813=	XM_006712239.4:c.1480+12823_1480+12825del	XM_006712239.4:c.1480+12824_1480+12825del	XM_006712239.4:c.1480+12825del	XM_006712239.4:c.1480+12825dup	XM_006712239.4:c.1480+12824_1480+12825dup
AGAP1 transcript variant X3	XM_011510547.3:c.1480+12813=	XM_011510547.3:c.1480+12823_1480+12825del	XM_011510547.3:c.1480+12824_1480+12825del	XM_011510547.3:c.1480+12825del	XM_011510547.3:c.1480+12825dup	XM_011510547.3:c.1480+12824_1480+12825dup
AGAP1 transcript variant X7	XM_011510548.3:c.1480+12813=	XM_011510548.3:c.1480+12823_1480+12825del	XM_011510548.3:c.1480+12824_1480+12825del	XM_011510548.3:c.1480+12825del	XM_011510548.3:c.1480+12825dup	XM_011510548.3:c.1480+12824_1480+12825dup
AGAP1 transcript variant X10	XM_011510549.3:c.1480+12813=	XM_011510549.3:c.1480+12823_1480+12825del	XM_011510549.3:c.1480+12824_1480+12825del	XM_011510549.3:c.1480+12825del	XM_011510549.3:c.1480+12825dup	XM_011510549.3:c.1480+12824_1480+12825dup
AGAP1 transcript variant X5	XM_017003282.2:c.1345+18462=	XM_017003282.2:c.1345+18472_1345+18474del	XM_017003282.2:c.1345+18473_1345+18474del	XM_017003282.2:c.1345+18474del	XM_017003282.2:c.1345+18474dup	XM_017003282.2:c.1345+18473_1345+18474dup
AGAP1 transcript variant X8	XM_024452672.2:c.1468+12813=	XM_024452672.2:c.1468+12823_1468+12825del	XM_024452672.2:c.1468+12824_1468+12825del	XM_024452672.2:c.1468+12825del	XM_024452672.2:c.1468+12825dup	XM_024452672.2:c.1468+12824_1468+12825dup
AGAP1 transcript variant X15	XM_024452676.2:c.1480+12813=	XM_024452676.2:c.1480+12823_1480+12825del	XM_024452676.2:c.1480+12824_1480+12825del	XM_024452676.2:c.1480+12825del	XM_024452676.2:c.1480+12825dup	XM_024452676.2:c.1480+12824_1480+12825dup
AGAP1 transcript variant X20	XM_024452678.2:c.1480+12813=	XM_024452678.2:c.1480+12823_1480+12825del	XM_024452678.2:c.1480+12824_1480+12825del	XM_024452678.2:c.1480+12825del	XM_024452678.2:c.1480+12825dup	XM_024452678.2:c.1480+12824_1480+12825dup
AGAP1 transcript variant X22	XM_024452679.2:c.1480+12813=	XM_024452679.2:c.1480+12823_1480+12825del	XM_024452679.2:c.1480+12824_1480+12825del	XM_024452679.2:c.1480+12825del	XM_024452679.2:c.1480+12825dup	XM_024452679.2:c.1480+12824_1480+12825dup
AGAP1 transcript variant X4	XM_047443190.1:c.1468+12813=	XM_047443190.1:c.1468+12823_1468+12825del	XM_047443190.1:c.1468+12824_1468+12825del	XM_047443190.1:c.1468+12825del	XM_047443190.1:c.1468+12825dup	XM_047443190.1:c.1468+12824_1468+12825dup
AGAP1 transcript variant X6	XM_047443191.1:c.1333+18462=	XM_047443191.1:c.1333+18472_1333+18474del	XM_047443191.1:c.1333+18473_1333+18474del	XM_047443191.1:c.1333+18474del	XM_047443191.1:c.1333+18474dup	XM_047443191.1:c.1333+18473_1333+18474dup
AGAP1 transcript variant X9	XM_047443192.1:c.1345+18462=	XM_047443192.1:c.1345+18472_1345+18474del	XM_047443192.1:c.1345+18473_1345+18474del	XM_047443192.1:c.1345+18474del	XM_047443192.1:c.1345+18474dup	XM_047443192.1:c.1345+18473_1345+18474dup
AGAP1 transcript variant X11	XM_047443193.1:c.1468+12813=	XM_047443193.1:c.1468+12823_1468+12825del	XM_047443193.1:c.1468+12824_1468+12825del	XM_047443193.1:c.1468+12825del	XM_047443193.1:c.1468+12825dup	XM_047443193.1:c.1468+12824_1468+12825dup
AGAP1 transcript variant X12	XM_047443194.1:c.1345+18462=	XM_047443194.1:c.1345+18472_1345+18474del	XM_047443194.1:c.1345+18473_1345+18474del	XM_047443194.1:c.1345+18474del	XM_047443194.1:c.1345+18474dup	XM_047443194.1:c.1345+18473_1345+18474dup
AGAP1 transcript variant X16	XM_047443195.1:c.538+18462=	XM_047443195.1:c.538+18472_538+18474del	XM_047443195.1:c.538+18473_538+18474del	XM_047443195.1:c.538+18474del	XM_047443195.1:c.538+18474dup	XM_047443195.1:c.538+18473_538+18474dup
AGAP1 transcript variant X18	XM_047443196.1:c.1468+12813=	XM_047443196.1:c.1468+12823_1468+12825del	XM_047443196.1:c.1468+12824_1468+12825del	XM_047443196.1:c.1468+12825del	XM_047443196.1:c.1468+12825dup	XM_047443196.1:c.1468+12824_1468+12825dup
AGAP1 transcript variant X19	XM_047443197.1:c.538+18462=	XM_047443197.1:c.538+18472_538+18474del	XM_047443197.1:c.538+18473_538+18474del	XM_047443197.1:c.538+18474del	XM_047443197.1:c.538+18474dup	XM_047443197.1:c.538+18473_538+18474dup
AGAP1 transcript variant X21	XM_047443200.1:c.1468+12813=	XM_047443200.1:c.1468+12823_1468+12825del	XM_047443200.1:c.1468+12824_1468+12825del	XM_047443200.1:c.1468+12825del	XM_047443200.1:c.1468+12825dup	XM_047443200.1:c.1468+12824_1468+12825dup
AGAP1 transcript variant X23	XM_047443201.1:c.1333+18462=	XM_047443201.1:c.1333+18472_1333+18474del	XM_047443201.1:c.1333+18473_1333+18474del	XM_047443201.1:c.1333+18474del	XM_047443201.1:c.1333+18474dup	XM_047443201.1:c.1333+18473_1333+18474dup

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#.

25 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77971106	Dec 07, 2007 (129)
2	HGSV	ss80253025	Dec 15, 2007 (130)
3	SSIP	ss947077756	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1575647434	Apr 01, 2015 (144)
5	JJLAB	ss2030487311	Sep 14, 2016 (149)
6	SWEGEN	ss2991585074	Nov 08, 2017 (151)
7	ACPOP	ss3729496586	Jul 13, 2019 (153)
8	PACBIO	ss3784192630	Jul 13, 2019 (153)
9	EVA	ss3827579171	Apr 25, 2020 (154)
10	GNOMAD	ss4063450302	Apr 26, 2021 (155)
11	GNOMAD	ss4063450303	Apr 26, 2021 (155)
12	GNOMAD	ss4063450304	Apr 26, 2021 (155)
13	GNOMAD	ss4063450305	Apr 26, 2021 (155)
14	TOPMED	ss4549347732	Apr 26, 2021 (155)
15	TOPMED	ss4549347733	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5157128220	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5157128221	Apr 26, 2021 (155)
18	1000G_HIGH_COVERAGE	ss5252520275	Oct 17, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5252520276	Oct 17, 2022 (156)
20	HUGCELL_USP	ss5452082949	Oct 17, 2022 (156)
21	HUGCELL_USP	ss5452082950	Oct 17, 2022 (156)
22	TOMMO_GENOMICS	ss5688200300	Oct 17, 2022 (156)
23	TOMMO_GENOMICS	ss5688200301	Oct 17, 2022 (156)
24	YY_MCH	ss5803343112	Oct 17, 2022 (156)
25	EVA	ss5853009597	Oct 17, 2022 (156)
26	The Danish reference pan genome	NC_000002.11 - 236671945	Apr 25, 2020 (154)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94897804 (NC_000002.12:235763300::A 4256/129012) Row 94897805 (NC_000002.12:235763300::AA 6/129548) Row 94897806 (NC_000002.12:235763300:A: 6350/129428)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94897804 (NC_000002.12:235763300::A 4256/129012) Row 94897805 (NC_000002.12:235763300::AA 6/129548) Row 94897806 (NC_000002.12:235763300:A: 6350/129428)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94897804 (NC_000002.12:235763300::A 4256/129012) Row 94897805 (NC_000002.12:235763300::AA 6/129548) Row 94897806 (NC_000002.12:235763300:A: 6350/129428)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94897804 (NC_000002.12:235763300::A 4256/129012) Row 94897805 (NC_000002.12:235763300::AA 6/129548) Row 94897806 (NC_000002.12:235763300:A: 6350/129428)...	-	Apr 26, 2021 (155)
31	Northern Sweden	NC_000002.11 - 236671945	Jul 13, 2019 (153)
32	8.3KJPN Submission ignored due to conflicting rows: Row 15097527 (NC_000002.11:236671944::A 16/16760) Row 15097528 (NC_000002.11:236671944:A: 10/16760)	-	Apr 26, 2021 (155)
33	8.3KJPN Submission ignored due to conflicting rows: Row 15097527 (NC_000002.11:236671944::A 16/16760) Row 15097528 (NC_000002.11:236671944:A: 10/16760)	-	Apr 26, 2021 (155)
34	14KJPN Submission ignored due to conflicting rows: Row 22037404 (NC_000002.12:235763300:A: 16/28256) Row 22037405 (NC_000002.12:235763300::A 33/28256)	-	Oct 17, 2022 (156)
35	14KJPN Submission ignored due to conflicting rows: Row 22037404 (NC_000002.12:235763300:A: 16/28256) Row 22037405 (NC_000002.12:235763300::A 33/28256)	-	Oct 17, 2022 (156)
36	TopMed Submission ignored due to conflicting rows: Row 353170611 (NC_000002.12:235763300:A: 12943/264690) Row 353170612 (NC_000002.12:235763300:AAA: 1/264690)	-	Apr 26, 2021 (155)
37	TopMed Submission ignored due to conflicting rows: Row 353170611 (NC_000002.12:235763300:A: 12943/264690) Row 353170612 (NC_000002.12:235763300:AAA: 1/264690)	-	Apr 26, 2021 (155)
38	ALFA	NC_000002.12 - 235763301	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)
rs59720920	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4549347733	NC_000002.12:235763300:AAA:	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAA	(self)
5386256626	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAA	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4063450305	NC_000002.12:235763300:AA:	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
5386256626	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAA	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss947077756, ss2991585074, ss3784192630, ss5157128221	NC_000002.11:236671944:A:	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4063450304, ss4549347732, ss5252520275, ss5452082950, ss5688200300	NC_000002.12:235763300:A:	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
5386256626	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
741726, 2781451, ss1575647434, ss2030487311, ss3729496586, ss3827579171, ss5157128220	NC_000002.11:236671944::A	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4063450302, ss5252520276, ss5452082949, ss5688200301, ss5803343112, ss5853009597	NC_000002.12:235763300::A	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5386256626	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss77971106, ss80253025	NT_005120.16:2618216::A	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4063450303	NC_000002.12:235763300::AA	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5386256626	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:235763300:AAAAAAAAAAA… NC_000002.12:235763300:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(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 rs56145835

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

rs56145835