Name: rs1169320387
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.

rs1169320387

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:129971018-129971037 (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)₁₀ / del(A)₈ / del(A)₇ / del…
del(A)₁₀ / 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
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.0000 (0/5902, ALFA)
del(A)₈=0.0000 (0/5902, ALFA)
del(A)₇=0.0000 (0/5902, ALFA) (+ 9 more)
del(A)₅=0.0000 (0/5902, ALFA)
del(A)₄=0.0000 (0/5902, ALFA)
delAAA=0.0000 (0/5902, ALFA)
delAA=0.0000 (0/5902, ALFA)
delA=0.0000 (0/5902, ALFA)
dupA=0.0000 (0/5902, ALFA)
dupAA=0.0000 (0/5902, ALFA)
dupAAA=0.0000 (0/5902, ALFA)
dup(A)₄=0.0000 (0/5902, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RAB6C-AS1 : 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	5902	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4554	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	686	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	28	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	658	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	32	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	30	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	74	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	316	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	60	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	180	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=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	5902	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₇=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
Allele Frequency Aggregator	European	Sub	4554	(A)₂₀=1.0000	del(A)₁₀=0.0000, del(A)₈=0.0000, del(A)₇=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
Allele Frequency Aggregator	African	Sub	686	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=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
Allele Frequency Aggregator	Latin American 2	Sub	316	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=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
Allele Frequency Aggregator	Other	Sub	180	(A)₂₀=1.000	del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=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
Allele Frequency Aggregator	Latin American 1	Sub	74	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=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
Allele Frequency Aggregator	South Asian	Sub	60	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=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
Allele Frequency Aggregator	Asian	Sub	32	(A)₂₀=1.00	del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=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

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 2	NC_000002.12:g.129971028_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971030_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971031_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971032_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971033_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971034_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971035_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971036_129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971037del
GRCh38.p14 chr 2	NC_000002.12:g.129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971036_129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971035_129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971034_129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971033_129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971032_129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971031_129971037dup
GRCh38.p14 chr 2	NC_000002.12:g.129971030_129971037dup
GRCh37.p13 chr 2	NC_000002.11:g.130728601_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728603_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728604_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728605_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728606_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728607_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728608_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728609_130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728610del
GRCh37.p13 chr 2	NC_000002.11:g.130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728609_130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728608_130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728607_130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728606_130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728605_130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728604_130728610dup
GRCh37.p13 chr 2	NC_000002.11:g.130728603_130728610dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143270_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143272_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143273_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143274_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143275_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143276_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143277_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143278_143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143279del
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143278_143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143277_143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143276_143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143275_143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143274_143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143273_143279dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143272_143279dup

Gene: RAB6C-AS1, RAB6C antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RAB6C-AS1 transcript	NR_036537.1: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)₂₀=	del(A)₁₀	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
GRCh38.p14 chr 2	NC_000002.12:g.129971018_129971037=	NC_000002.12:g.129971028_129971037del	NC_000002.12:g.129971030_129971037del	NC_000002.12:g.129971031_129971037del	NC_000002.12:g.129971032_129971037del	NC_000002.12:g.129971033_129971037del	NC_000002.12:g.129971034_129971037del	NC_000002.12:g.129971035_129971037del	NC_000002.12:g.129971036_129971037del	NC_000002.12:g.129971037del	NC_000002.12:g.129971037dup	NC_000002.12:g.129971036_129971037dup	NC_000002.12:g.129971035_129971037dup	NC_000002.12:g.129971034_129971037dup	NC_000002.12:g.129971033_129971037dup	NC_000002.12:g.129971032_129971037dup	NC_000002.12:g.129971031_129971037dup	NC_000002.12:g.129971030_129971037dup
GRCh37.p13 chr 2	NC_000002.11:g.130728591_130728610=	NC_000002.11:g.130728601_130728610del	NC_000002.11:g.130728603_130728610del	NC_000002.11:g.130728604_130728610del	NC_000002.11:g.130728605_130728610del	NC_000002.11:g.130728606_130728610del	NC_000002.11:g.130728607_130728610del	NC_000002.11:g.130728608_130728610del	NC_000002.11:g.130728609_130728610del	NC_000002.11:g.130728610del	NC_000002.11:g.130728610dup	NC_000002.11:g.130728609_130728610dup	NC_000002.11:g.130728608_130728610dup	NC_000002.11:g.130728607_130728610dup	NC_000002.11:g.130728606_130728610dup	NC_000002.11:g.130728605_130728610dup	NC_000002.11:g.130728604_130728610dup	NC_000002.11:g.130728603_130728610dup
GRCh38.p14 chr 2 novel patch HSCHR2_12_CTG7_2	NW_025791762.1:g.143260_143279=	NW_025791762.1:g.143270_143279del	NW_025791762.1:g.143272_143279del	NW_025791762.1:g.143273_143279del	NW_025791762.1:g.143274_143279del	NW_025791762.1:g.143275_143279del	NW_025791762.1:g.143276_143279del	NW_025791762.1:g.143277_143279del	NW_025791762.1:g.143278_143279del	NW_025791762.1:g.143279del	NW_025791762.1:g.143279dup	NW_025791762.1:g.143278_143279dup	NW_025791762.1:g.143277_143279dup	NW_025791762.1:g.143276_143279dup	NW_025791762.1:g.143275_143279dup	NW_025791762.1:g.143274_143279dup	NW_025791762.1:g.143273_143279dup	NW_025791762.1:g.143272_143279dup

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#.

37 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PACBIO	ss3783993926	Jul 13, 2019 (153)
2	EVA	ss3827219302	Apr 25, 2020 (154)
3	GNOMAD	ss4050620208	Apr 26, 2021 (155)
4	GNOMAD	ss4050620209	Apr 26, 2021 (155)
5	GNOMAD	ss4050620210	Apr 26, 2021 (155)
6	GNOMAD	ss4050620211	Apr 26, 2021 (155)
7	GNOMAD	ss4050620212	Apr 26, 2021 (155)
8	GNOMAD	ss4050620213	Apr 26, 2021 (155)
9	GNOMAD	ss4050620214	Apr 26, 2021 (155)
10	GNOMAD	ss4050620215	Apr 26, 2021 (155)
11	GNOMAD	ss4050620216	Apr 26, 2021 (155)
12	GNOMAD	ss4050620217	Apr 26, 2021 (155)
13	GNOMAD	ss4050620218	Apr 26, 2021 (155)
14	GNOMAD	ss4050620219	Apr 26, 2021 (155)
15	GNOMAD	ss4050620220	Apr 26, 2021 (155)
16	GNOMAD	ss4050620221	Apr 26, 2021 (155)
17	GNOMAD	ss4050620222	Apr 26, 2021 (155)
18	GNOMAD	ss4050620223	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5153815425	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5153815426	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5153815427	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5153815428	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5153815429	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5249979014	Oct 12, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5249979015	Oct 12, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5249979016	Oct 12, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5249979017	Oct 12, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5249979018	Oct 12, 2022 (156)
29	HUGCELL_USP	ss5449819899	Oct 12, 2022 (156)
30	HUGCELL_USP	ss5449819901	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5449819902	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5449819903	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5449819904	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5683923000	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5683923001	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5683923002	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5683923004	Oct 12, 2022 (156)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 73546856 (NC_000002.12:129971017::A 1687/70754) Row 73546857 (NC_000002.12:129971017::AA 235/71120) Row 73546858 (NC_000002.12:129971017::AAA 53/71178)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 11784732 (NC_000002.11:130728590:A: 1676/16378) Row 11784733 (NC_000002.11:130728590:AA: 755/16378) Row 11784734 (NC_000002.11:130728590::A 1041/16378)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 11784732 (NC_000002.11:130728590:A: 1676/16378) Row 11784733 (NC_000002.11:130728590:AA: 755/16378) Row 11784734 (NC_000002.11:130728590::A 1041/16378)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 11784732 (NC_000002.11:130728590:A: 1676/16378) Row 11784733 (NC_000002.11:130728590:AA: 755/16378) Row 11784734 (NC_000002.11:130728590::A 1041/16378)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 11784732 (NC_000002.11:130728590:A: 1676/16378) Row 11784733 (NC_000002.11:130728590:AA: 755/16378) Row 11784734 (NC_000002.11:130728590::A 1041/16378)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 11784732 (NC_000002.11:130728590:A: 1676/16378) Row 11784733 (NC_000002.11:130728590:AA: 755/16378) Row 11784734 (NC_000002.11:130728590::A 1041/16378)...	-	Apr 26, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 17760104 (NC_000002.12:129971017:A: 3224/27898) Row 17760105 (NC_000002.12:129971017:AA: 1454/27898) Row 17760106 (NC_000002.12:129971017::A 1744/27898)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 17760104 (NC_000002.12:129971017:A: 3224/27898) Row 17760105 (NC_000002.12:129971017:AA: 1454/27898) Row 17760106 (NC_000002.12:129971017::A 1744/27898)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 17760104 (NC_000002.12:129971017:A: 3224/27898) Row 17760105 (NC_000002.12:129971017:AA: 1454/27898) Row 17760106 (NC_000002.12:129971017::A 1744/27898)...	-	Oct 12, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 17760104 (NC_000002.12:129971017:A: 3224/27898) Row 17760105 (NC_000002.12:129971017:AA: 1454/27898) Row 17760106 (NC_000002.12:129971017::A 1744/27898)...	-	Oct 12, 2022 (156)
63	ALFA	NC_000002.12 - 129971018	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4050620223	NC_000002.12:129971017:AAAAAAAAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4050620222	NC_000002.12:129971017:AAAAAAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4050620221	NC_000002.12:129971017:AAAAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4050620220	NC_000002.12:129971017:AAAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5153815429	NC_000002.11:130728590:AAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4050620219, ss5249979014, ss5449819901	NC_000002.12:129971017:AAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5153815428	NC_000002.11:130728590:AAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4050620218, ss5249979018, ss5449819902, ss5683923004	NC_000002.12:129971017:AAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5153815426	NC_000002.11:130728590:AA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4050620217, ss5249979015, ss5449819903, ss5683923001	NC_000002.12:129971017:AA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3783993926, ss3827219302, ss5153815425	NC_000002.11:130728590:A:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4050620216, ss5249979016, ss5449819899, ss5683923000	NC_000002.12:129971017:A:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5153815427	NC_000002.11:130728590::A	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620208, ss5249979017, ss5449819904, ss5683923002	NC_000002.12:129971017::A	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620209	NC_000002.12:129971017::AA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620210	NC_000002.12:129971017::AAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620211	NC_000002.12:129971017::AAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
3994972213	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620212	NC_000002.12:129971017::AAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620213	NC_000002.12:129971017::AAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620214	NC_000002.12:129971017::AAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4050620215	NC_000002.12:129971017::AAAAAAAA	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3322744635	NC_000002.12:129971017:AAAAAAA:	NC_000002.12:129971017:AAAAAAAAAAA… NC_000002.12:129971017:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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

No publications for rs1169320387

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

rs1169320387