Name: rs368769287
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.

rs368769287

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:72061854-72061875 (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)₁₁ / del(A)₁₀ / del(A)₉ / de…
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 / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / ins(A)₂₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.0000 (0/5604, ALFA)
del(A)₁₀=0.0000 (0/5604, ALFA)
del(A)₉=0.0000 (0/5604, ALFA) (+ 14 more)
del(A)₈=0.0000 (0/5604, ALFA)
del(A)₇=0.0000 (0/5604, ALFA)
del(A)₆=0.0000 (0/5604, ALFA)
del(A)₅=0.0000 (0/5604, ALFA)
del(A)₄=0.0000 (0/5604, ALFA)
delAAA=0.0000 (0/5604, ALFA)
delAA=0.0000 (0/5604, ALFA)
delA=0.0000 (0/5604, ALFA)
dupA=0.0000 (0/5604, ALFA)
dupAA=0.0000 (0/5604, ALFA)
dupAAA=0.0000 (0/5604, ALFA)
dup(A)₄=0.0000 (0/5604, ALFA)
dup(A)₅=0.0000 (0/5604, ALFA)
(A)₂₂=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: C9orf57 : 2KB Upstream Variant
LOC101927108 : 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	HWEP
Total	Global	5604	AAAAAAAAAAAAAAAAAAAAAA=1.0000	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4198	AAAAAAAAAAAAAAAAAAAAAA=1.0000	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	836	AAAAAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	30	AAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	806	AAAAAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	44	AAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	34	AAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	10	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	60	AAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	232	AAAAAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	188	AAAAAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=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	5604	(A)₂₂=1.0000	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, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	4198	(A)₂₂=1.0000	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, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	836	(A)₂₂=1.000	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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	232	(A)₂₂=1.000	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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	188	(A)₂₂=1.000	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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	60	(A)₂₂=1.00	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, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	46	(A)₂₂=1.00	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, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	44	(A)₂₂=1.00	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, dup(A)₄=0.00, dup(A)₅=0.00
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₂=0.00	del(A)₁₀=1.00

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 9	NC_000009.12:g.72061865_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061866_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061867_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061868_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061869_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061870_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061871_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061872_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061873_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061874_72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061875del
GRCh38.p14 chr 9	NC_000009.12:g.72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061874_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061873_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061872_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061871_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061870_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061869_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061868_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061867_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061866_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061865_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061864_72061875dup
GRCh38.p14 chr 9	NC_000009.12:g.72061875_72061876insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 9	NC_000009.11:g.74676781_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676782_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676783_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676784_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676785_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676786_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676787_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676788_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676789_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676790_74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676791del
GRCh37.p13 chr 9	NC_000009.11:g.74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676790_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676789_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676788_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676787_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676786_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676785_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676784_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676783_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676782_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676781_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676780_74676791dup
GRCh37.p13 chr 9	NC_000009.11:g.74676791_74676792insAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: C9orf57, chromosome 9 open reading frame 57 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
C9orf57 transcript variant 1	NM_001128618.2:c.	N/A	Upstream Transcript Variant
C9orf57 transcript variant 2	NM_001371610.1:c.	N/A	Upstream Transcript Variant

Gene: LOC101927108, uncharacterized LOC101927108 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101927108 transcript variant X6	XR_001746719.1:n.	N/A	Intron Variant
LOC101927108 transcript variant X7	XR_001746720.2:n.	N/A	Intron Variant
LOC101927108 transcript variant X1	XR_002956888.2:n.	N/A	Intron Variant
LOC101927108 transcript variant X3	XR_002956889.2:n.	N/A	Intron Variant
LOC101927108 transcript variant X4	XR_242613.4:n.	N/A	Intron Variant
LOC101927108 transcript variant X2	XR_929919.3:n.	N/A	Intron Variant
LOC101927108 transcript variant X5	XR_929920.3:n.	N/A	Intron Variant
LOC101927108 transcript variant X8	XR_929921.3:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₂=	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	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	ins(A)₂₆
GRCh38.p14 chr 9	NC_000009.12:g.72061854_72061875=	NC_000009.12:g.72061865_72061875del	NC_000009.12:g.72061866_72061875del	NC_000009.12:g.72061867_72061875del	NC_000009.12:g.72061868_72061875del	NC_000009.12:g.72061869_72061875del	NC_000009.12:g.72061870_72061875del	NC_000009.12:g.72061871_72061875del	NC_000009.12:g.72061872_72061875del	NC_000009.12:g.72061873_72061875del	NC_000009.12:g.72061874_72061875del	NC_000009.12:g.72061875del	NC_000009.12:g.72061875dup	NC_000009.12:g.72061874_72061875dup	NC_000009.12:g.72061873_72061875dup	NC_000009.12:g.72061872_72061875dup	NC_000009.12:g.72061871_72061875dup	NC_000009.12:g.72061870_72061875dup	NC_000009.12:g.72061869_72061875dup	NC_000009.12:g.72061868_72061875dup	NC_000009.12:g.72061867_72061875dup	NC_000009.12:g.72061866_72061875dup	NC_000009.12:g.72061865_72061875dup	NC_000009.12:g.72061864_72061875dup	NC_000009.12:g.72061875_72061876insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 9	NC_000009.11:g.74676770_74676791=	NC_000009.11:g.74676781_74676791del	NC_000009.11:g.74676782_74676791del	NC_000009.11:g.74676783_74676791del	NC_000009.11:g.74676784_74676791del	NC_000009.11:g.74676785_74676791del	NC_000009.11:g.74676786_74676791del	NC_000009.11:g.74676787_74676791del	NC_000009.11:g.74676788_74676791del	NC_000009.11:g.74676789_74676791del	NC_000009.11:g.74676790_74676791del	NC_000009.11:g.74676791del	NC_000009.11:g.74676791dup	NC_000009.11:g.74676790_74676791dup	NC_000009.11:g.74676789_74676791dup	NC_000009.11:g.74676788_74676791dup	NC_000009.11:g.74676787_74676791dup	NC_000009.11:g.74676786_74676791dup	NC_000009.11:g.74676785_74676791dup	NC_000009.11:g.74676784_74676791dup	NC_000009.11:g.74676783_74676791dup	NC_000009.11:g.74676782_74676791dup	NC_000009.11:g.74676781_74676791dup	NC_000009.11:g.74676780_74676791dup	NC_000009.11:g.74676791_74676792insAAAAAAAAAAAAAAAAAAAAAAAAAA
C9orf57 transcript variant X1	XM_005251703.1:c.62-5011=	XM_005251703.1:c.62-5021_62-5011del	XM_005251703.1:c.62-5020_62-5011del	XM_005251703.1:c.62-5019_62-5011del	XM_005251703.1:c.62-5018_62-5011del	XM_005251703.1:c.62-5017_62-5011del	XM_005251703.1:c.62-5016_62-5011del	XM_005251703.1:c.62-5015_62-5011del	XM_005251703.1:c.62-5014_62-5011del	XM_005251703.1:c.62-5013_62-5011del	XM_005251703.1:c.62-5012_62-5011del	XM_005251703.1:c.62-5011del	XM_005251703.1:c.62-5011dup	XM_005251703.1:c.62-5012_62-5011dup	XM_005251703.1:c.62-5013_62-5011dup	XM_005251703.1:c.62-5014_62-5011dup	XM_005251703.1:c.62-5015_62-5011dup	XM_005251703.1:c.62-5016_62-5011dup	XM_005251703.1:c.62-5017_62-5011dup	XM_005251703.1:c.62-5018_62-5011dup	XM_005251703.1:c.62-5019_62-5011dup	XM_005251703.1:c.62-5020_62-5011dup	XM_005251703.1:c.62-5021_62-5011dup	XM_005251703.1:c.62-5022_62-5011dup	XM_005251703.1:c.62-5011_62-5010insTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

65 SubSNP, 42 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss43351540	Dec 04, 2013 (138)
2	HGSV	ss81095853	Oct 12, 2018 (152)
3	HGSV	ss82136604	Oct 12, 2018 (152)
4	HUMANGENOME_JCVI	ss95517286	Dec 05, 2013 (138)
5	SSMP	ss663930604	Apr 01, 2015 (144)
6	BILGI_BIOE	ss666471070	Apr 25, 2013 (138)
7	EVA_GENOME_DK	ss1578893887	Apr 01, 2015 (144)
8	SWEGEN	ss3004997632	Nov 08, 2017 (151)
9	URBANLAB	ss3649163051	Oct 12, 2018 (152)
10	EVA_DECODE	ss3724032244	Jul 13, 2019 (153)
11	EVA_DECODE	ss3724032245	Jul 13, 2019 (153)
12	EVA_DECODE	ss3724032246	Jul 13, 2019 (153)
13	EVA_DECODE	ss3724032247	Jul 13, 2019 (153)
14	EVA_DECODE	ss3724032248	Jul 13, 2019 (153)
15	ACPOP	ss3736554849	Jul 13, 2019 (153)
16	ACPOP	ss3736554850	Jul 13, 2019 (153)
17	ACPOP	ss3736554851	Jul 13, 2019 (153)
18	ACPOP	ss3736554852	Jul 13, 2019 (153)
19	ACPOP	ss3736554853	Jul 13, 2019 (153)
20	EVA	ss3831673166	Apr 26, 2020 (154)
21	GNOMAD	ss4203125755	Apr 26, 2021 (155)
22	GNOMAD	ss4203125756	Apr 26, 2021 (155)
23	GNOMAD	ss4203125757	Apr 26, 2021 (155)
24	GNOMAD	ss4203125758	Apr 26, 2021 (155)
25	GNOMAD	ss4203125759	Apr 26, 2021 (155)
26	GNOMAD	ss4203125760	Apr 26, 2021 (155)
27	GNOMAD	ss4203125761	Apr 26, 2021 (155)
28	GNOMAD	ss4203125762	Apr 26, 2021 (155)
29	GNOMAD	ss4203125763	Apr 26, 2021 (155)
30	GNOMAD	ss4203125764	Apr 26, 2021 (155)
31	GNOMAD	ss4203125765	Apr 26, 2021 (155)
32	GNOMAD	ss4203125766	Apr 26, 2021 (155)
33	GNOMAD	ss4203125767	Apr 26, 2021 (155)
34	GNOMAD	ss4203125770	Apr 26, 2021 (155)
35	GNOMAD	ss4203125771	Apr 26, 2021 (155)
36	GNOMAD	ss4203125772	Apr 26, 2021 (155)
37	GNOMAD	ss4203125773	Apr 26, 2021 (155)
38	GNOMAD	ss4203125774	Apr 26, 2021 (155)
39	GNOMAD	ss4203125775	Apr 26, 2021 (155)
40	GNOMAD	ss4203125776	Apr 26, 2021 (155)
41	GNOMAD	ss4203125777	Apr 26, 2021 (155)
42	GNOMAD	ss4203125778	Apr 26, 2021 (155)
43	TOPMED	ss4822773788	Apr 26, 2021 (155)
44	TOPMED	ss4822773789	Apr 26, 2021 (155)
45	TOPMED	ss4822773790	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5193648621	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5193648622	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5193648623	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5193648624	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5193648625	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5280898375	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5280898376	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5280898377	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5280898378	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5280898379	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5476898089	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5476898090	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5476898091	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5476898092	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5476898093	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5737690899	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5737690900	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5737690901	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5737690902	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5737690904	Oct 16, 2022 (156)
66	The Danish reference pan genome	NC_000009.11 - 74676770	Apr 26, 2020 (154)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 327117953 (NC_000009.12:72061853::A 8605/65920) Row 327117954 (NC_000009.12:72061853::AA 1541/65620) Row 327117955 (NC_000009.12:72061853::AAA 16349/65738)...	-	Apr 26, 2021 (155)
89	Northern Sweden Submission ignored due to conflicting rows: Row 9839714 (NC_000009.11:74676769::AAAAAA 68/562) Row 9839715 (NC_000009.11:74676769::AAAAAAAAA 10/562) Row 9839716 (NC_000009.11:74676769::AAA 63/562)...	-	Jul 13, 2019 (153)
90	Northern Sweden Submission ignored due to conflicting rows: Row 9839714 (NC_000009.11:74676769::AAAAAA 68/562) Row 9839715 (NC_000009.11:74676769::AAAAAAAAA 10/562) Row 9839716 (NC_000009.11:74676769::AAA 63/562)...	-	Jul 13, 2019 (153)
91	Northern Sweden Submission ignored due to conflicting rows: Row 9839714 (NC_000009.11:74676769::AAAAAA 68/562) Row 9839715 (NC_000009.11:74676769::AAAAAAAAA 10/562) Row 9839716 (NC_000009.11:74676769::AAA 63/562)...	-	Jul 13, 2019 (153)
92	Northern Sweden Submission ignored due to conflicting rows: Row 9839714 (NC_000009.11:74676769::AAAAAA 68/562) Row 9839715 (NC_000009.11:74676769::AAAAAAAAA 10/562) Row 9839716 (NC_000009.11:74676769::AAA 63/562)...	-	Jul 13, 2019 (153)
93	Northern Sweden Submission ignored due to conflicting rows: Row 9839714 (NC_000009.11:74676769::AAAAAA 68/562) Row 9839715 (NC_000009.11:74676769::AAAAAAAAA 10/562) Row 9839716 (NC_000009.11:74676769::AAA 63/562)...	-	Jul 13, 2019 (153)
94	8.3KJPN Submission ignored due to conflicting rows: Row 51617928 (NC_000009.11:74676769::AAA 7086/16360) Row 51617929 (NC_000009.11:74676769::AAAAAAAAA 128/16360) Row 51617930 (NC_000009.11:74676769::AA 318/16360)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 51617928 (NC_000009.11:74676769::AAA 7086/16360) Row 51617929 (NC_000009.11:74676769::AAAAAAAAA 128/16360) Row 51617930 (NC_000009.11:74676769::AA 318/16360)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 51617928 (NC_000009.11:74676769::AAA 7086/16360) Row 51617929 (NC_000009.11:74676769::AAAAAAAAA 128/16360) Row 51617930 (NC_000009.11:74676769::AA 318/16360)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 51617928 (NC_000009.11:74676769::AAA 7086/16360) Row 51617929 (NC_000009.11:74676769::AAAAAAAAA 128/16360) Row 51617930 (NC_000009.11:74676769::AA 318/16360)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 51617928 (NC_000009.11:74676769::AAA 7086/16360) Row 51617929 (NC_000009.11:74676769::AAAAAAAAA 128/16360) Row 51617930 (NC_000009.11:74676769::AA 318/16360)...	-	Apr 26, 2021 (155)
99	14KJPN Submission ignored due to conflicting rows: Row 71528003 (NC_000009.12:72061853::AAA 11642/27714) Row 71528004 (NC_000009.12:72061853::AAAA 121/27714) Row 71528005 (NC_000009.12:72061853::AA 525/27714)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 71528003 (NC_000009.12:72061853::AAA 11642/27714) Row 71528004 (NC_000009.12:72061853::AAAA 121/27714) Row 71528005 (NC_000009.12:72061853::AA 525/27714)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 71528003 (NC_000009.12:72061853::AAA 11642/27714) Row 71528004 (NC_000009.12:72061853::AAAA 121/27714) Row 71528005 (NC_000009.12:72061853::AA 525/27714)...	-	Oct 16, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 71528003 (NC_000009.12:72061853::AAA 11642/27714) Row 71528004 (NC_000009.12:72061853::AAAA 121/27714) Row 71528005 (NC_000009.12:72061853::AA 525/27714)...	-	Oct 16, 2022 (156)
103	14KJPN Submission ignored due to conflicting rows: Row 71528003 (NC_000009.12:72061853::AAA 11642/27714) Row 71528004 (NC_000009.12:72061853::AAAA 121/27714) Row 71528005 (NC_000009.12:72061853::AA 525/27714)...	-	Oct 16, 2022 (156)
104	TopMed Submission ignored due to conflicting rows: Row 660151349 (NC_000009.12:72061853:AAAAAAAA: 7/264690) Row 660151350 (NC_000009.12:72061853:AAAAAAAAA: 1/264690) Row 660151351 (NC_000009.12:72061853:AAAAAAAAAAA: 1/264690)	-	Apr 26, 2021 (155)
105	TopMed Submission ignored due to conflicting rows: Row 660151349 (NC_000009.12:72061853:AAAAAAAA: 7/264690) Row 660151350 (NC_000009.12:72061853:AAAAAAAAA: 1/264690) Row 660151351 (NC_000009.12:72061853:AAAAAAAAAAA: 1/264690)	-	Apr 26, 2021 (155)
106	TopMed Submission ignored due to conflicting rows: Row 660151349 (NC_000009.12:72061853:AAAAAAAA: 7/264690) Row 660151350 (NC_000009.12:72061853:AAAAAAAAA: 1/264690) Row 660151351 (NC_000009.12:72061853:AAAAAAAAAAA: 1/264690)	-	Apr 26, 2021 (155)
107	ALFA	NC_000009.12 - 72061854	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)
rs71353560	May 11, 2012 (137)
rs369866928	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4822773790	NC_000009.12:72061853:AAAAAAAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
112109, ss1578893887	NC_000009.11:74676769:AAAAAAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4203125778, ss4822773789	NC_000009.12:72061853:AAAAAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4203125777, ss4822773788	NC_000009.12:72061853:AAAAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4203125776	NC_000009.12:72061853:AAAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4203125775	NC_000009.12:72061853:AAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4203125774	NC_000009.12:72061853:AAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4203125773	NC_000009.12:72061853:AAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4203125772	NC_000009.12:72061853:AAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3724032248, ss4203125771	NC_000009.12:72061853:AA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3004997632	NC_000009.11:74676769:A:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125770, ss5280898375, ss5476898092	NC_000009.12:72061853:A:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3724032247	NC_000009.12:72061854:A:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss43351540	NT_008470.19:3841301:A:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss95517286	NT_008470.19:3841322:A:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss663930604, ss3736554853, ss3831673166	NC_000009.11:74676769::A	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125755, ss5280898378, ss5476898090	NC_000009.12:72061853::A	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724032246	NC_000009.12:72061855::A	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5193648623	NC_000009.11:74676769::AA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125756, ss5280898376, ss5476898089, ss5737690901	NC_000009.12:72061853::AA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724032245	NC_000009.12:72061855::AA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss666471070, ss3736554851, ss5193648621	NC_000009.11:74676769::AAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3649163051, ss4203125757, ss5280898377, ss5476898091, ss5737690899	NC_000009.12:72061853::AAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3724032244	NC_000009.12:72061855::AAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss81095853, ss82136604	NT_008470.19:3841323::AAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5193648624	NC_000009.11:74676769::AAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125758, ss5476898093, ss5737690900	NC_000009.12:72061853::AAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5193648625	NC_000009.11:74676769::AAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125759, ss5280898379, ss5737690904	NC_000009.12:72061853::AAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10518896511	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3736554849	NC_000009.11:74676769::AAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125760	NC_000009.12:72061853::AAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3736554852	NC_000009.11:74676769::AAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125761	NC_000009.12:72061853::AAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125762	NC_000009.12:72061853::AAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3736554850, ss5193648622	NC_000009.11:74676769::AAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125763, ss5737690902	NC_000009.12:72061853::AAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125764	NC_000009.12:72061853::AAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125765	NC_000009.12:72061853::AAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125766	NC_000009.12:72061853::AAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4203125767	NC_000009.12:72061853::AAAAAAAAAAA… NC_000009.12:72061853::AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3591110025	NC_000009.12:72061853:AAAAAAAAAA:	NC_000009.12:72061853:AAAAAAAAAAAA… NC_000009.12:72061853:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

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

No publications for rs368769287

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

rs368769287