Name: rs55858409
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.

rs55858409

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:5287599-5287623 (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)₁₆ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₆ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₅=0.3650 (1828/5008, 1000G)
delA=0.1645 (734/4462, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RABEP1 : 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	4462	AAAAAAAAAAAAAAAAAAAAAAAAA=0.6150	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0424, AAAAAAAAAAAAAAAAAAAA=0.0433, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0296, AAAAAAAAAAAAAAAAAAAAAAAA=0.1645, AAAAAAAAAAAAAAAAAAAAAAA=0.1053, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.711661	0.052297	0.236042	21
European	Sub	4434	AAAAAAAAAAAAAAAAAAAAAAAAA=0.6137	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0424, AAAAAAAAAAAAAAAAAAAA=0.0435, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0298, AAAAAAAAAAAAAAAAAAAAAAAA=0.1651, AAAAAAAAAAAAAAAAAAAAAAA=0.1055, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.709402	0.052707	0.237892	20
African	Sub	16	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	16	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	10	AAAAAAAAAAAAAAAAAAAAAAAAA=0.5	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.1, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.2, AAAAAAAAAAAAAAAAAAAAAAA=0.2, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	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)₂₅=0.3650	del(A)₁₂=0.6350
1000Genomes	African	Sub	1322	(A)₂₅=0.3737	del(A)₁₂=0.6263
1000Genomes	East Asian	Sub	1008	(A)₂₅=0.1786	del(A)₁₂=0.8214
1000Genomes	Europe	Sub	1006	(A)₂₅=0.5328	del(A)₁₂=0.4672
1000Genomes	South Asian	Sub	978	(A)₂₅=0.273	del(A)₁₂=0.727
1000Genomes	American	Sub	694	(A)₂₅=0.506	del(A)₁₂=0.494
Allele Frequency Aggregator	Total	Global	4462	(A)₂₅=0.6150	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0424, del(A)₅=0.0433, del(A)₄=0.0000, delAAA=0.0296, delAA=0.1053, delA=0.1645, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	4434	(A)₂₅=0.6137	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0424, del(A)₅=0.0435, del(A)₄=0.0000, delAAA=0.0298, delAA=0.1055, delA=0.1651, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	16	(A)₂₅=1.00	del(A)₁₆=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Other	Sub	10	(A)₂₅=0.5	del(A)₁₆=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.1, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.2, delA=0.2, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₅=1.0	del(A)₁₆=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₅=0	del(A)₁₆=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₅=0	del(A)₁₆=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₅=0	del(A)₁₆=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.5287608_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287611_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287612_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287613_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287614_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287615_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287616_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287617_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287618_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287619_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287620_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287621_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287622_5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287623del
GRCh38.p14 chr 17	NC_000017.11:g.5287623dup
GRCh38.p14 chr 17	NC_000017.11:g.5287622_5287623dup
GRCh37.p13 chr 17	NC_000017.10:g.5190903_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190906_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190907_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190908_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190909_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190910_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190911_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190912_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190913_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190914_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190915_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190916_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190917_5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190918del
GRCh37.p13 chr 17	NC_000017.10:g.5190918dup
GRCh37.p13 chr 17	NC_000017.10:g.5190917_5190918dup

Gene: RABEP1, rabaptin, RAB GTPase binding effector protein 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RABEP1 transcript variant 2	NM_001083585.3:c.34+5088_… NM_001083585.3:c.34+5088_34+5103del	N/A	Intron Variant
RABEP1 transcript variant 3	NM_001291581.2:c.34+5088_… NM_001291581.2:c.34+5088_34+5103del	N/A	Intron Variant
RABEP1 transcript variant 4	NM_001291582.2:c.34+5088_… NM_001291582.2:c.34+5088_34+5103del	N/A	Intron Variant
RABEP1 transcript variant 1	NM_004703.6:c.34+5088_34+… NM_004703.6:c.34+5088_34+5103del	N/A	Intron Variant
RABEP1 transcript variant X1	XM_011524060.3:c.34+5088_… XM_011524060.3:c.34+5088_34+5103del	N/A	Intron Variant
RABEP1 transcript variant X2	XM_047437038.1:c.-378+508… XM_047437038.1:c.-378+5088_-378+5103del	N/A	Intron Variant
RABEP1 transcript variant X3	XM_047437039.1:c.-389+508… XM_047437039.1:c.-389+5088_-389+5103del	N/A	Intron Variant
RABEP1 transcript variant X4	XM_047437040.1:c.	N/A	Genic Upstream Transcript Variant
RABEP1 transcript variant X5	XM_047437041.1:c.	N/A	Genic Upstream 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)₂₅=	del(A)₁₆	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 17	NC_000017.11:g.5287599_5287623=	NC_000017.11:g.5287608_5287623del	NC_000017.11:g.5287611_5287623del	NC_000017.11:g.5287612_5287623del	NC_000017.11:g.5287613_5287623del	NC_000017.11:g.5287614_5287623del	NC_000017.11:g.5287615_5287623del	NC_000017.11:g.5287616_5287623del	NC_000017.11:g.5287617_5287623del	NC_000017.11:g.5287618_5287623del	NC_000017.11:g.5287619_5287623del	NC_000017.11:g.5287620_5287623del	NC_000017.11:g.5287621_5287623del	NC_000017.11:g.5287622_5287623del	NC_000017.11:g.5287623del	NC_000017.11:g.5287623dup	NC_000017.11:g.5287622_5287623dup
GRCh37.p13 chr 17	NC_000017.10:g.5190894_5190918=	NC_000017.10:g.5190903_5190918del	NC_000017.10:g.5190906_5190918del	NC_000017.10:g.5190907_5190918del	NC_000017.10:g.5190908_5190918del	NC_000017.10:g.5190909_5190918del	NC_000017.10:g.5190910_5190918del	NC_000017.10:g.5190911_5190918del	NC_000017.10:g.5190912_5190918del	NC_000017.10:g.5190913_5190918del	NC_000017.10:g.5190914_5190918del	NC_000017.10:g.5190915_5190918del	NC_000017.10:g.5190916_5190918del	NC_000017.10:g.5190917_5190918del	NC_000017.10:g.5190918del	NC_000017.10:g.5190918dup	NC_000017.10:g.5190917_5190918dup
RABEP1 transcript variant 2	NM_001083585.1:c.34+5079=	NM_001083585.1:c.34+5088_34+5103del	NM_001083585.1:c.34+5091_34+5103del	NM_001083585.1:c.34+5092_34+5103del	NM_001083585.1:c.34+5093_34+5103del	NM_001083585.1:c.34+5094_34+5103del	NM_001083585.1:c.34+5095_34+5103del	NM_001083585.1:c.34+5096_34+5103del	NM_001083585.1:c.34+5097_34+5103del	NM_001083585.1:c.34+5098_34+5103del	NM_001083585.1:c.34+5099_34+5103del	NM_001083585.1:c.34+5100_34+5103del	NM_001083585.1:c.34+5101_34+5103del	NM_001083585.1:c.34+5102_34+5103del	NM_001083585.1:c.34+5103del	NM_001083585.1:c.34+5103dup	NM_001083585.1:c.34+5102_34+5103dup
RABEP1 transcript variant 2	NM_001083585.3:c.34+5079=	NM_001083585.3:c.34+5088_34+5103del	NM_001083585.3:c.34+5091_34+5103del	NM_001083585.3:c.34+5092_34+5103del	NM_001083585.3:c.34+5093_34+5103del	NM_001083585.3:c.34+5094_34+5103del	NM_001083585.3:c.34+5095_34+5103del	NM_001083585.3:c.34+5096_34+5103del	NM_001083585.3:c.34+5097_34+5103del	NM_001083585.3:c.34+5098_34+5103del	NM_001083585.3:c.34+5099_34+5103del	NM_001083585.3:c.34+5100_34+5103del	NM_001083585.3:c.34+5101_34+5103del	NM_001083585.3:c.34+5102_34+5103del	NM_001083585.3:c.34+5103del	NM_001083585.3:c.34+5103dup	NM_001083585.3:c.34+5102_34+5103dup
RABEP1 transcript variant 3	NM_001291581.2:c.34+5079=	NM_001291581.2:c.34+5088_34+5103del	NM_001291581.2:c.34+5091_34+5103del	NM_001291581.2:c.34+5092_34+5103del	NM_001291581.2:c.34+5093_34+5103del	NM_001291581.2:c.34+5094_34+5103del	NM_001291581.2:c.34+5095_34+5103del	NM_001291581.2:c.34+5096_34+5103del	NM_001291581.2:c.34+5097_34+5103del	NM_001291581.2:c.34+5098_34+5103del	NM_001291581.2:c.34+5099_34+5103del	NM_001291581.2:c.34+5100_34+5103del	NM_001291581.2:c.34+5101_34+5103del	NM_001291581.2:c.34+5102_34+5103del	NM_001291581.2:c.34+5103del	NM_001291581.2:c.34+5103dup	NM_001291581.2:c.34+5102_34+5103dup
RABEP1 transcript variant 4	NM_001291582.2:c.34+5079=	NM_001291582.2:c.34+5088_34+5103del	NM_001291582.2:c.34+5091_34+5103del	NM_001291582.2:c.34+5092_34+5103del	NM_001291582.2:c.34+5093_34+5103del	NM_001291582.2:c.34+5094_34+5103del	NM_001291582.2:c.34+5095_34+5103del	NM_001291582.2:c.34+5096_34+5103del	NM_001291582.2:c.34+5097_34+5103del	NM_001291582.2:c.34+5098_34+5103del	NM_001291582.2:c.34+5099_34+5103del	NM_001291582.2:c.34+5100_34+5103del	NM_001291582.2:c.34+5101_34+5103del	NM_001291582.2:c.34+5102_34+5103del	NM_001291582.2:c.34+5103del	NM_001291582.2:c.34+5103dup	NM_001291582.2:c.34+5102_34+5103dup
RABEP1 transcript variant 1	NM_004703.4:c.34+5079=	NM_004703.4:c.34+5088_34+5103del	NM_004703.4:c.34+5091_34+5103del	NM_004703.4:c.34+5092_34+5103del	NM_004703.4:c.34+5093_34+5103del	NM_004703.4:c.34+5094_34+5103del	NM_004703.4:c.34+5095_34+5103del	NM_004703.4:c.34+5096_34+5103del	NM_004703.4:c.34+5097_34+5103del	NM_004703.4:c.34+5098_34+5103del	NM_004703.4:c.34+5099_34+5103del	NM_004703.4:c.34+5100_34+5103del	NM_004703.4:c.34+5101_34+5103del	NM_004703.4:c.34+5102_34+5103del	NM_004703.4:c.34+5103del	NM_004703.4:c.34+5103dup	NM_004703.4:c.34+5102_34+5103dup
RABEP1 transcript variant 1	NM_004703.6:c.34+5079=	NM_004703.6:c.34+5088_34+5103del	NM_004703.6:c.34+5091_34+5103del	NM_004703.6:c.34+5092_34+5103del	NM_004703.6:c.34+5093_34+5103del	NM_004703.6:c.34+5094_34+5103del	NM_004703.6:c.34+5095_34+5103del	NM_004703.6:c.34+5096_34+5103del	NM_004703.6:c.34+5097_34+5103del	NM_004703.6:c.34+5098_34+5103del	NM_004703.6:c.34+5099_34+5103del	NM_004703.6:c.34+5100_34+5103del	NM_004703.6:c.34+5101_34+5103del	NM_004703.6:c.34+5102_34+5103del	NM_004703.6:c.34+5103del	NM_004703.6:c.34+5103dup	NM_004703.6:c.34+5102_34+5103dup
RABEP1 transcript variant X1	XM_005256847.1:c.34+5079=	XM_005256847.1:c.34+5088_34+5103del	XM_005256847.1:c.34+5091_34+5103del	XM_005256847.1:c.34+5092_34+5103del	XM_005256847.1:c.34+5093_34+5103del	XM_005256847.1:c.34+5094_34+5103del	XM_005256847.1:c.34+5095_34+5103del	XM_005256847.1:c.34+5096_34+5103del	XM_005256847.1:c.34+5097_34+5103del	XM_005256847.1:c.34+5098_34+5103del	XM_005256847.1:c.34+5099_34+5103del	XM_005256847.1:c.34+5100_34+5103del	XM_005256847.1:c.34+5101_34+5103del	XM_005256847.1:c.34+5102_34+5103del	XM_005256847.1:c.34+5103del	XM_005256847.1:c.34+5103dup	XM_005256847.1:c.34+5102_34+5103dup
RABEP1 transcript variant X1	XM_011524060.3:c.34+5079=	XM_011524060.3:c.34+5088_34+5103del	XM_011524060.3:c.34+5091_34+5103del	XM_011524060.3:c.34+5092_34+5103del	XM_011524060.3:c.34+5093_34+5103del	XM_011524060.3:c.34+5094_34+5103del	XM_011524060.3:c.34+5095_34+5103del	XM_011524060.3:c.34+5096_34+5103del	XM_011524060.3:c.34+5097_34+5103del	XM_011524060.3:c.34+5098_34+5103del	XM_011524060.3:c.34+5099_34+5103del	XM_011524060.3:c.34+5100_34+5103del	XM_011524060.3:c.34+5101_34+5103del	XM_011524060.3:c.34+5102_34+5103del	XM_011524060.3:c.34+5103del	XM_011524060.3:c.34+5103dup	XM_011524060.3:c.34+5102_34+5103dup
RABEP1 transcript variant X2	XM_047437038.1:c.-378+5079=	XM_047437038.1:c.-378+5088_-378+5103del	XM_047437038.1:c.-378+5091_-378+5103del	XM_047437038.1:c.-378+5092_-378+5103del	XM_047437038.1:c.-378+5093_-378+5103del	XM_047437038.1:c.-378+5094_-378+5103del	XM_047437038.1:c.-378+5095_-378+5103del	XM_047437038.1:c.-378+5096_-378+5103del	XM_047437038.1:c.-378+5097_-378+5103del	XM_047437038.1:c.-378+5098_-378+5103del	XM_047437038.1:c.-378+5099_-378+5103del	XM_047437038.1:c.-378+5100_-378+5103del	XM_047437038.1:c.-378+5101_-378+5103del	XM_047437038.1:c.-378+5102_-378+5103del	XM_047437038.1:c.-378+5103del	XM_047437038.1:c.-378+5103dup	XM_047437038.1:c.-378+5102_-378+5103dup
RABEP1 transcript variant X3	XM_047437039.1:c.-389+5079=	XM_047437039.1:c.-389+5088_-389+5103del	XM_047437039.1:c.-389+5091_-389+5103del	XM_047437039.1:c.-389+5092_-389+5103del	XM_047437039.1:c.-389+5093_-389+5103del	XM_047437039.1:c.-389+5094_-389+5103del	XM_047437039.1:c.-389+5095_-389+5103del	XM_047437039.1:c.-389+5096_-389+5103del	XM_047437039.1:c.-389+5097_-389+5103del	XM_047437039.1:c.-389+5098_-389+5103del	XM_047437039.1:c.-389+5099_-389+5103del	XM_047437039.1:c.-389+5100_-389+5103del	XM_047437039.1:c.-389+5101_-389+5103del	XM_047437039.1:c.-389+5102_-389+5103del	XM_047437039.1:c.-389+5103del	XM_047437039.1:c.-389+5103dup	XM_047437039.1:c.-389+5102_-389+5103dup

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#.

51 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77947927	Dec 07, 2007 (136)
2	HGSV	ss77963303	Aug 21, 2014 (142)
3	HGSV	ss82031487	Aug 21, 2014 (142)
4	PJP	ss294902642	May 09, 2011 (136)
5	1000GENOMES	ss1376326484	Aug 21, 2014 (142)
6	SWEGEN	ss3015126012	Nov 08, 2017 (151)
7	EVA_DECODE	ss3700000598	Jul 13, 2019 (153)
8	EVA_DECODE	ss3700000599	Jul 13, 2019 (153)
9	EVA_DECODE	ss3700000600	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700000601	Jul 13, 2019 (153)
11	EVA_DECODE	ss3700000603	Jul 13, 2019 (153)
12	PACBIO	ss3793107592	Jul 13, 2019 (153)
13	PACBIO	ss3793107593	Jul 13, 2019 (153)
14	PACBIO	ss3797993193	Jul 13, 2019 (153)
15	PACBIO	ss3797993194	Jul 13, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3819668185	Jul 13, 2019 (153)
17	EVA	ss3834756667	Apr 27, 2020 (154)
18	GNOMAD	ss4307255744	Apr 27, 2021 (155)
19	GNOMAD	ss4307255745	Apr 27, 2021 (155)
20	GNOMAD	ss4307255746	Apr 27, 2021 (155)
21	GNOMAD	ss4307255747	Apr 27, 2021 (155)
22	GNOMAD	ss4307255748	Apr 27, 2021 (155)
23	GNOMAD	ss4307255749	Apr 27, 2021 (155)
24	GNOMAD	ss4307255750	Apr 27, 2021 (155)
25	GNOMAD	ss4307255751	Apr 27, 2021 (155)
26	GNOMAD	ss4307255752	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5221302133	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5221302134	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5221302135	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5221302136	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5221302137	Apr 27, 2021 (155)
32	TOMMO_GENOMICS	ss5221302138	Apr 27, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5302278455	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5302278456	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5302278457	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5302278458	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5302278459	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5302278460	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5495468252	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5495468253	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5495468254	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5495468255	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5495468256	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5776839356	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5776839357	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5776839358	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5776839359	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5776839360	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5776839361	Oct 16, 2022 (156)
50	EVA	ss5851720443	Oct 16, 2022 (156)
51	EVA	ss5980948545	Oct 16, 2022 (156)
52	1000Genomes	NC_000017.10 - 5190894	Oct 12, 2018 (152)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500299938 (NC_000017.11:5287598::A 109/55914) Row 500299939 (NC_000017.11:5287598::AA 5/55952) Row 500299940 (NC_000017.11:5287598:AAAAAAA: 31/55946)...	-	Apr 27, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 79271440 (NC_000017.10:5190893:AAAAAA: 2693/16568) Row 79271441 (NC_000017.10:5190893:AAAAA: 7506/16568) Row 79271442 (NC_000017.10:5190893:AAAAAAAAAAAA: 110/16568)...	-	Apr 27, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 79271440 (NC_000017.10:5190893:AAAAAA: 2693/16568) Row 79271441 (NC_000017.10:5190893:AAAAA: 7506/16568) Row 79271442 (NC_000017.10:5190893:AAAAAAAAAAAA: 110/16568)...	-	Apr 27, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 79271440 (NC_000017.10:5190893:AAAAAA: 2693/16568) Row 79271441 (NC_000017.10:5190893:AAAAA: 7506/16568) Row 79271442 (NC_000017.10:5190893:AAAAAAAAAAAA: 110/16568)...	-	Apr 27, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 79271440 (NC_000017.10:5190893:AAAAAA: 2693/16568) Row 79271441 (NC_000017.10:5190893:AAAAA: 7506/16568) Row 79271442 (NC_000017.10:5190893:AAAAAAAAAAAA: 110/16568)...	-	Apr 27, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 79271440 (NC_000017.10:5190893:AAAAAA: 2693/16568) Row 79271441 (NC_000017.10:5190893:AAAAA: 7506/16568) Row 79271442 (NC_000017.10:5190893:AAAAAAAAAAAA: 110/16568)...	-	Apr 27, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 79271440 (NC_000017.10:5190893:AAAAAA: 2693/16568) Row 79271441 (NC_000017.10:5190893:AAAAA: 7506/16568) Row 79271442 (NC_000017.10:5190893:AAAAAAAAAAAA: 110/16568)...	-	Apr 27, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 110676460 (NC_000017.11:5287598:AAAAAA: 4983/27372) Row 110676461 (NC_000017.11:5287598:AAAAA: 13011/27372) Row 110676462 (NC_000017.11:5287598:A: 2227/27372)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 110676460 (NC_000017.11:5287598:AAAAAA: 4983/27372) Row 110676461 (NC_000017.11:5287598:AAAAA: 13011/27372) Row 110676462 (NC_000017.11:5287598:A: 2227/27372)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 110676460 (NC_000017.11:5287598:AAAAAA: 4983/27372) Row 110676461 (NC_000017.11:5287598:AAAAA: 13011/27372) Row 110676462 (NC_000017.11:5287598:A: 2227/27372)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 110676460 (NC_000017.11:5287598:AAAAAA: 4983/27372) Row 110676461 (NC_000017.11:5287598:AAAAA: 13011/27372) Row 110676462 (NC_000017.11:5287598:A: 2227/27372)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 110676460 (NC_000017.11:5287598:AAAAAA: 4983/27372) Row 110676461 (NC_000017.11:5287598:AAAAA: 13011/27372) Row 110676462 (NC_000017.11:5287598:A: 2227/27372)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 110676460 (NC_000017.11:5287598:AAAAAA: 4983/27372) Row 110676461 (NC_000017.11:5287598:AAAAA: 13011/27372) Row 110676462 (NC_000017.11:5287598:A: 2227/27372)...	-	Oct 16, 2022 (156)
74	ALFA	NC_000017.11 - 5287599	Apr 27, 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)
rs56324960	Oct 13, 2011 (136)
rs57564176	Oct 13, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4307255752	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4307255751	NC_000017.11:5287598:AAAAAAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
70948237, ss1376326484, ss5221302135	NC_000017.10:5190893:AAAAAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3819668185, ss5302278460, ss5495468255, ss5776839360	NC_000017.11:5287598:AAAAAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4307255750	NC_000017.11:5287598:AAAAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4307255749	NC_000017.11:5287598:AAAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4307255748	NC_000017.11:5287598:AAAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4307255747	NC_000017.11:5287598:AAAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5980948545	NC_000017.10:5190893:AAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
ss4307255746	NC_000017.11:5287598:AAAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3015126012, ss5221302133	NC_000017.10:5190893:AAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3700000603, ss5302278455, ss5495468254, ss5776839356, ss5851720443	NC_000017.11:5287598:AAAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss82031487	NC_000017.9:5131637:AAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3834756667, ss5221302134	NC_000017.10:5190893:AAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5302278458, ss5495468256, ss5776839357	NC_000017.11:5287598:AAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3700000601	NC_000017.11:5287599:AAAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3793107592, ss3797993193	NC_000017.10:5190893:AAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5221302138	NC_000017.10:5190893:AAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5302278459, ss5776839361	NC_000017.11:5287598:AAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700000600	NC_000017.11:5287601:AAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss77963303	NC_000017.9:5131640:AA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3793107593, ss3797993194, ss5221302137	NC_000017.10:5190893:AA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5302278456, ss5495468252, ss5776839359	NC_000017.11:5287598:AA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700000599	NC_000017.11:5287602:AA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss77947927, ss294902642	NC_000017.9:5131641:A:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5221302136	NC_000017.10:5190893:A:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5302278457, ss5495468253, ss5776839358	NC_000017.11:5287598:A:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700000598	NC_000017.11:5287603:A:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4307255744	NC_000017.11:5287598::A	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4307255745	NC_000017.11:5287598::AA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10356983419	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3256221544	NC_000017.11:5287598:AAAA:	NC_000017.11:5287598:AAAAAAAAAAAAA… NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs55858409

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

rs55858409