Name: rs927678016
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.

rs927678016

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:1498485-1498506 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / 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 / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.00000 (0/12252, ALFA)
del(A)₁₃=0.00000 (0/12252, ALFA)
del(A)₁₂=0.00000 (0/12252, ALFA) (+ 14 more)
del(A)₁₁=0.00000 (0/12252, ALFA)
del(A)₁₀=0.00000 (0/12252, ALFA)
del(A)₉=0.00000 (0/12252, ALFA)
del(A)₈=0.00000 (0/12252, ALFA)
del(A)₇=0.00000 (0/12252, ALFA)
del(A)₆=0.00000 (0/12252, ALFA)
del(A)₅=0.00000 (0/12252, ALFA)
del(A)₄=0.00000 (0/12252, ALFA)
delAAA=0.00000 (0/12252, ALFA)
delAA=0.00000 (0/12252, ALFA)
delA=0.00000 (0/12252, ALFA)
dupA=0.00000 (0/12252, ALFA)
dupAA=0.00000 (0/12252, ALFA)
dupAAA=0.00000 (0/12252, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	HWEP
Total	Global	12252	AAAAAAAAAAAAAAAAAAAAAA=1.00000	AAAAAAAA=0.00000, AAAAAAAAA=0.00000, AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	1.0	N/A
European	Sub	8806	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2184	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	76	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	2108	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	88	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	74	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	122	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	552	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	90	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	410	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	12252	(A)₂₂=1.00000	del(A)₁₄=0.00000, del(A)₁₃=0.00000, del(A)₁₂=0.00000, del(A)₁₁=0.00000, del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₇=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	8806	(A)₂₂=1.0000	del(A)₁₄=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=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	2184	(A)₂₂=1.0000	del(A)₁₄=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=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	552	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	410	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	122	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(A)₂₂=1.00	del(A)₁₄=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, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	88	(A)₂₂=1.00	del(A)₁₄=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, dupAAA=0.00

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 19	NC_000019.10:g.1498493_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498494_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498495_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498496_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498497_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498498_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498499_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498500_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498501_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498502_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498503_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498504_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498505_1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498506del
GRCh38.p14 chr 19	NC_000019.10:g.1498506dup
GRCh38.p14 chr 19	NC_000019.10:g.1498505_1498506dup
GRCh38.p14 chr 19	NC_000019.10:g.1498504_1498506dup
GRCh38.p14 chr 19	NC_000019.10:g.1498503_1498506dup
GRCh38.p14 chr 19	NC_000019.10:g.1498502_1498506dup
GRCh38.p14 chr 19	NC_000019.10:g.1498501_1498506dup
GRCh37.p13 chr 19	NC_000019.9:g.1498492_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498493_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498494_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498495_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498496_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498497_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498498_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498499_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498500_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498501_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498502_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498503_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498504_1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498505del
GRCh37.p13 chr 19	NC_000019.9:g.1498505dup
GRCh37.p13 chr 19	NC_000019.9:g.1498504_1498505dup
GRCh37.p13 chr 19	NC_000019.9:g.1498503_1498505dup
GRCh37.p13 chr 19	NC_000019.9:g.1498502_1498505dup
GRCh37.p13 chr 19	NC_000019.9:g.1498501_1498505dup
GRCh37.p13 chr 19	NC_000019.9:g.1498500_1498505dup
REEP6 RefSeqGene	NG_055254.1:g.12489_12502del
REEP6 RefSeqGene	NG_055254.1:g.12490_12502del
REEP6 RefSeqGene	NG_055254.1:g.12491_12502del
REEP6 RefSeqGene	NG_055254.1:g.12492_12502del
REEP6 RefSeqGene	NG_055254.1:g.12493_12502del
REEP6 RefSeqGene	NG_055254.1:g.12494_12502del
REEP6 RefSeqGene	NG_055254.1:g.12495_12502del
REEP6 RefSeqGene	NG_055254.1:g.12496_12502del
REEP6 RefSeqGene	NG_055254.1:g.12497_12502del
REEP6 RefSeqGene	NG_055254.1:g.12498_12502del
REEP6 RefSeqGene	NG_055254.1:g.12499_12502del
REEP6 RefSeqGene	NG_055254.1:g.12500_12502del
REEP6 RefSeqGene	NG_055254.1:g.12501_12502del
REEP6 RefSeqGene	NG_055254.1:g.12502del
REEP6 RefSeqGene	NG_055254.1:g.12502dup
REEP6 RefSeqGene	NG_055254.1:g.12501_12502dup
REEP6 RefSeqGene	NG_055254.1:g.12500_12502dup
REEP6 RefSeqGene	NG_055254.1:g.12499_12502dup
REEP6 RefSeqGene	NG_055254.1:g.12498_12502dup
REEP6 RefSeqGene	NG_055254.1:g.12497_12502dup

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)₂₂=	del(A)₁₄	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	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆
GRCh38.p14 chr 19	NC_000019.10:g.1498485_1498506=	NC_000019.10:g.1498493_1498506del	NC_000019.10:g.1498494_1498506del	NC_000019.10:g.1498495_1498506del	NC_000019.10:g.1498496_1498506del	NC_000019.10:g.1498497_1498506del	NC_000019.10:g.1498498_1498506del	NC_000019.10:g.1498499_1498506del	NC_000019.10:g.1498500_1498506del	NC_000019.10:g.1498501_1498506del	NC_000019.10:g.1498502_1498506del	NC_000019.10:g.1498503_1498506del	NC_000019.10:g.1498504_1498506del	NC_000019.10:g.1498505_1498506del	NC_000019.10:g.1498506del	NC_000019.10:g.1498506dup	NC_000019.10:g.1498505_1498506dup	NC_000019.10:g.1498504_1498506dup	NC_000019.10:g.1498503_1498506dup	NC_000019.10:g.1498502_1498506dup	NC_000019.10:g.1498501_1498506dup
GRCh37.p13 chr 19	NC_000019.9:g.1498484_1498505=	NC_000019.9:g.1498492_1498505del	NC_000019.9:g.1498493_1498505del	NC_000019.9:g.1498494_1498505del	NC_000019.9:g.1498495_1498505del	NC_000019.9:g.1498496_1498505del	NC_000019.9:g.1498497_1498505del	NC_000019.9:g.1498498_1498505del	NC_000019.9:g.1498499_1498505del	NC_000019.9:g.1498500_1498505del	NC_000019.9:g.1498501_1498505del	NC_000019.9:g.1498502_1498505del	NC_000019.9:g.1498503_1498505del	NC_000019.9:g.1498504_1498505del	NC_000019.9:g.1498505del	NC_000019.9:g.1498505dup	NC_000019.9:g.1498504_1498505dup	NC_000019.9:g.1498503_1498505dup	NC_000019.9:g.1498502_1498505dup	NC_000019.9:g.1498501_1498505dup	NC_000019.9:g.1498500_1498505dup
REEP6 RefSeqGene	NG_055254.1:g.12481_12502=	NG_055254.1:g.12489_12502del	NG_055254.1:g.12490_12502del	NG_055254.1:g.12491_12502del	NG_055254.1:g.12492_12502del	NG_055254.1:g.12493_12502del	NG_055254.1:g.12494_12502del	NG_055254.1:g.12495_12502del	NG_055254.1:g.12496_12502del	NG_055254.1:g.12497_12502del	NG_055254.1:g.12498_12502del	NG_055254.1:g.12499_12502del	NG_055254.1:g.12500_12502del	NG_055254.1:g.12501_12502del	NG_055254.1:g.12502del	NG_055254.1:g.12502dup	NG_055254.1:g.12501_12502dup	NG_055254.1:g.12500_12502dup	NG_055254.1:g.12499_12502dup	NG_055254.1:g.12498_12502dup	NG_055254.1:g.12497_12502dup

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#.

46 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MCHAISSO	ss3064750214	Nov 08, 2017 (151)
2	EVA_DECODE	ss3702179645	Jul 13, 2019 (153)
3	EVA_DECODE	ss3702179646	Jul 13, 2019 (153)
4	EVA_DECODE	ss3702179647	Jul 13, 2019 (153)
5	EVA_DECODE	ss3702179648	Jul 13, 2019 (153)
6	EVA_DECODE	ss3702179649	Jul 13, 2019 (153)
7	EVA	ss3835309236	Apr 27, 2020 (154)
8	GNOMAD	ss4326339715	Apr 27, 2021 (155)
9	GNOMAD	ss4326339716	Apr 27, 2021 (155)
10	GNOMAD	ss4326339717	Apr 27, 2021 (155)
11	GNOMAD	ss4326339718	Apr 27, 2021 (155)
12	GNOMAD	ss4326339719	Apr 27, 2021 (155)
13	GNOMAD	ss4326339720	Apr 27, 2021 (155)
14	GNOMAD	ss4326339721	Apr 27, 2021 (155)
15	GNOMAD	ss4326339722	Apr 27, 2021 (155)
16	GNOMAD	ss4326339723	Apr 27, 2021 (155)
17	GNOMAD	ss4326339724	Apr 27, 2021 (155)
18	GNOMAD	ss4326339725	Apr 27, 2021 (155)
19	GNOMAD	ss4326339726	Apr 27, 2021 (155)
20	GNOMAD	ss4326339727	Apr 27, 2021 (155)
21	GNOMAD	ss4326339728	Apr 27, 2021 (155)
22	GNOMAD	ss4326339729	Apr 27, 2021 (155)
23	GNOMAD	ss4326339730	Apr 27, 2021 (155)
24	TOPMED	ss5065505708	Apr 27, 2021 (155)
25	TOPMED	ss5065505709	Apr 27, 2021 (155)
26	TOPMED	ss5065505710	Apr 27, 2021 (155)
27	TOPMED	ss5065505711	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5226344168	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5226344169	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5226344170	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5226344171	Apr 27, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5306202095	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5306202096	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5306202097	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5306202098	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5306202099	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5498875929	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5498875930	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5498875931	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5498875932	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5498875933	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5784482790	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5784482791	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5784482793	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5784482794	Oct 16, 2022 (156)
46	EVA	ss5926998093	Oct 16, 2022 (156)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 531850982 (NC_000019.10:1498484::A 6807/48074) Row 531850983 (NC_000019.10:1498484::AA 220/48982) Row 531850984 (NC_000019.10:1498484::AAA 21/49148)...	-	Apr 27, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 84313475 (NC_000019.9:1498483::A 488/16718) Row 84313476 (NC_000019.9:1498483:A: 40/16718) Row 84313477 (NC_000019.9:1498483:AAAA: 2/16718)...	-	Apr 27, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 84313475 (NC_000019.9:1498483::A 488/16718) Row 84313476 (NC_000019.9:1498483:A: 40/16718) Row 84313477 (NC_000019.9:1498483:AAAA: 2/16718)...	-	Apr 27, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 84313475 (NC_000019.9:1498483::A 488/16718) Row 84313476 (NC_000019.9:1498483:A: 40/16718) Row 84313477 (NC_000019.9:1498483:AAAA: 2/16718)...	-	Apr 27, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 84313475 (NC_000019.9:1498483::A 488/16718) Row 84313476 (NC_000019.9:1498483:A: 40/16718) Row 84313477 (NC_000019.9:1498483:AAAA: 2/16718)...	-	Apr 27, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 118319894 (NC_000019.10:1498484::A 997/28214) Row 118319895 (NC_000019.10:1498484:A: 70/28214) Row 118319897 (NC_000019.10:1498484:AAAA: 2/28214)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 118319894 (NC_000019.10:1498484::A 997/28214) Row 118319895 (NC_000019.10:1498484:A: 70/28214) Row 118319897 (NC_000019.10:1498484:AAAA: 2/28214)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 118319894 (NC_000019.10:1498484::A 997/28214) Row 118319895 (NC_000019.10:1498484:A: 70/28214) Row 118319897 (NC_000019.10:1498484:AAAA: 2/28214)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 118319894 (NC_000019.10:1498484::A 997/28214) Row 118319895 (NC_000019.10:1498484:A: 70/28214) Row 118319897 (NC_000019.10:1498484:AAAA: 2/28214)...	-	Oct 16, 2022 (156)
72	TopMed Submission ignored due to conflicting rows: Row 281051372 (NC_000019.10:1498484:AAAAAAAA: 2/264690) Row 281051373 (NC_000019.10:1498484:AAAAAAAAA: 2/264690) Row 281051374 (NC_000019.10:1498484:AAAAAAAAAAAA: 1/264690)...	-	Apr 27, 2021 (155)
73	TopMed Submission ignored due to conflicting rows: Row 281051372 (NC_000019.10:1498484:AAAAAAAA: 2/264690) Row 281051373 (NC_000019.10:1498484:AAAAAAAAA: 2/264690) Row 281051374 (NC_000019.10:1498484:AAAAAAAAAAAA: 1/264690)...	-	Apr 27, 2021 (155)
74	TopMed Submission ignored due to conflicting rows: Row 281051372 (NC_000019.10:1498484:AAAAAAAA: 2/264690) Row 281051373 (NC_000019.10:1498484:AAAAAAAAA: 2/264690) Row 281051374 (NC_000019.10:1498484:AAAAAAAAAAAA: 1/264690)...	-	Apr 27, 2021 (155)
75	TopMed Submission ignored due to conflicting rows: Row 281051372 (NC_000019.10:1498484:AAAAAAAA: 2/264690) Row 281051373 (NC_000019.10:1498484:AAAAAAAAA: 2/264690) Row 281051374 (NC_000019.10:1498484:AAAAAAAAAAAA: 1/264690)...	-	Apr 27, 2021 (155)
76	ALFA	NC_000019.10 - 1498485	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5065505711	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss3702179649, ss4326339730, ss5306202098, ss5498875933, ss5926998093	NC_000019.10:1498484:AAAAAAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4326339729, ss5065505710	NC_000019.10:1498484:AAAAAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4326339728	NC_000019.10:1498484:AAAAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4326339727	NC_000019.10:1498484:AAAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4326339726, ss5065505709, ss5306202099	NC_000019.10:1498484:AAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5065505708	NC_000019.10:1498484:AAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4326339725	NC_000019.10:1498484:AAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5226344171	NC_000019.9:1498483:AAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4326339724, ss5784482794	NC_000019.10:1498484:AAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4326339723	NC_000019.10:1498484:AAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5226344170	NC_000019.9:1498483:AAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4326339722, ss5784482793	NC_000019.10:1498484:AAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3702179648	NC_000019.10:1498494:AAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4326339721, ss5498875932	NC_000019.10:1498484:AA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3702179647	NC_000019.10:1498495:AA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5226344169	NC_000019.9:1498483:A:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5306202096, ss5498875929, ss5784482791	NC_000019.10:1498484:A:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3702179646	NC_000019.10:1498496:A:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3835309236, ss5226344168	NC_000019.9:1498483::A	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064750214, ss4326339715, ss5306202095, ss5498875930, ss5784482790	NC_000019.10:1498484::A	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702179645	NC_000019.10:1498497::A	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326339716, ss5306202097, ss5498875931	NC_000019.10:1498484::AA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326339717	NC_000019.10:1498484::AAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2824729567	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326339718	NC_000019.10:1498484::AAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326339719	NC_000019.10:1498484::AAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4326339720	NC_000019.10:1498484::AAAAAA	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss2389097261	NC_000019.9:1498483:AAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
ss2389097262	NC_000019.9:1498483:AAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
ss2389097263	NC_000019.9:1498483:AAAAAAAAAAAAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA
ss3285866567	NC_000019.10:1498484:AAA:	NC_000019.10:1498484:AAAAAAAAAAAAA… NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

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

No publications for rs927678016

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

rs927678016