Name: rs561709280
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.

rs561709280

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:75127060-75127078 (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)₉ / del(A)₇ / del(A)₅ / del(…
del(A)₉ / del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dup(A)₄ / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.3488 (2358/6760, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ARMC7 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	6760	AAAAAAAAAAAAAAAAAAA=0.6359	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAA=0.3488, AAAAAAAAAAAAAAAAAAAA=0.0142, AAAAAAAAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.586837	0.294333	0.11883	32
European	Sub	6432	AAAAAAAAAAAAAAAAAAA=0.6183	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAA=0.3657, AAAAAAAAAAAAAAAAAAAA=0.0149, AAAAAAAAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.566068	0.308852	0.12508	32
African	Sub	270	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	256	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	4	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	46	AAAAAAAAAAAAAAAAAAA=0.87	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.13, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	0.869565	0.130435	0.0	13

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6760	(A)₁₉=0.6359	del(A)₉=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0009, delA=0.3488, dupA=0.0142, dupAA=0.0001, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	6432	(A)₁₉=0.6183	del(A)₉=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0009, delA=0.3657, dupA=0.0149, dupAA=0.0002, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	270	(A)₁₉=1.000	del(A)₉=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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	46	(A)₁₉=0.87	del(A)₉=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.13, dupA=0.00, dupAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₁₉=1.0	del(A)₉=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(A)₁₉=1.0	del(A)₉=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₁₉=1.0	del(A)₉=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₉=0	del(A)₉=0, del(A)₇=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0, dup(A)₅=0

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.75127070_75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127072_75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127074_75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127075_75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127076_75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127077_75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127078del
GRCh38.p14 chr 17	NC_000017.11:g.75127078dup
GRCh38.p14 chr 17	NC_000017.11:g.75127077_75127078dup
GRCh38.p14 chr 17	NC_000017.11:g.75127075_75127078dup
GRCh38.p14 chr 17	NC_000017.11:g.75127074_75127078dup
GRCh37.p13 chr 17	NC_000017.10:g.73123165_73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123167_73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123169_73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123170_73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123171_73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123172_73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123173del
GRCh37.p13 chr 17	NC_000017.10:g.73123173dup
GRCh37.p13 chr 17	NC_000017.10:g.73123172_73123173dup
GRCh37.p13 chr 17	NC_000017.10:g.73123170_73123173dup
GRCh37.p13 chr 17	NC_000017.10:g.73123169_73123173dup

Gene: ARMC7, armadillo repeat containing 7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARMC7 transcript variant 2	NM_001304271.2:c.172-1607… NM_001304271.2:c.172-1607_172-1599del	N/A	Intron Variant
ARMC7 transcript variant 1	NM_024585.4:c.236-1607_23… NM_024585.4:c.236-1607_236-1599del	N/A	Intron Variant
ARMC7 transcript variant 3	NM_001304272.2:c.	N/A	Genic Downstream Transcript Variant
ARMC7 transcript variant 4	NM_001304273.2:c.	N/A	Genic Downstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(A)₁₉=	del(A)₉	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dup(A)₄	dup(A)₅
GRCh38.p14 chr 17	NC_000017.11:g.75127060_75127078=	NC_000017.11:g.75127070_75127078del	NC_000017.11:g.75127072_75127078del	NC_000017.11:g.75127074_75127078del	NC_000017.11:g.75127075_75127078del	NC_000017.11:g.75127076_75127078del	NC_000017.11:g.75127077_75127078del	NC_000017.11:g.75127078del	NC_000017.11:g.75127078dup	NC_000017.11:g.75127077_75127078dup	NC_000017.11:g.75127075_75127078dup	NC_000017.11:g.75127074_75127078dup
GRCh37.p13 chr 17	NC_000017.10:g.73123155_73123173=	NC_000017.10:g.73123165_73123173del	NC_000017.10:g.73123167_73123173del	NC_000017.10:g.73123169_73123173del	NC_000017.10:g.73123170_73123173del	NC_000017.10:g.73123171_73123173del	NC_000017.10:g.73123172_73123173del	NC_000017.10:g.73123173del	NC_000017.10:g.73123173dup	NC_000017.10:g.73123172_73123173dup	NC_000017.10:g.73123170_73123173dup	NC_000017.10:g.73123169_73123173dup
ARMC7 transcript variant 2	NM_001304271.2:c.172-1617=	NM_001304271.2:c.172-1607_172-1599del	NM_001304271.2:c.172-1605_172-1599del	NM_001304271.2:c.172-1603_172-1599del	NM_001304271.2:c.172-1602_172-1599del	NM_001304271.2:c.172-1601_172-1599del	NM_001304271.2:c.172-1600_172-1599del	NM_001304271.2:c.172-1599del	NM_001304271.2:c.172-1599dup	NM_001304271.2:c.172-1600_172-1599dup	NM_001304271.2:c.172-1602_172-1599dup	NM_001304271.2:c.172-1603_172-1599dup
ARMC7 transcript	NM_024585.2:c.236-1617=	NM_024585.2:c.236-1607_236-1599del	NM_024585.2:c.236-1605_236-1599del	NM_024585.2:c.236-1603_236-1599del	NM_024585.2:c.236-1602_236-1599del	NM_024585.2:c.236-1601_236-1599del	NM_024585.2:c.236-1600_236-1599del	NM_024585.2:c.236-1599del	NM_024585.2:c.236-1599dup	NM_024585.2:c.236-1600_236-1599dup	NM_024585.2:c.236-1602_236-1599dup	NM_024585.2:c.236-1603_236-1599dup
ARMC7 transcript variant 1	NM_024585.4:c.236-1617=	NM_024585.4:c.236-1607_236-1599del	NM_024585.4:c.236-1605_236-1599del	NM_024585.4:c.236-1603_236-1599del	NM_024585.4:c.236-1602_236-1599del	NM_024585.4:c.236-1601_236-1599del	NM_024585.4:c.236-1600_236-1599del	NM_024585.4:c.236-1599del	NM_024585.4:c.236-1599dup	NM_024585.4:c.236-1600_236-1599dup	NM_024585.4:c.236-1602_236-1599dup	NM_024585.4:c.236-1603_236-1599dup
ARMC7 transcript variant X1	XM_005257667.1:c.172-1617=	XM_005257667.1:c.172-1607_172-1599del	XM_005257667.1:c.172-1605_172-1599del	XM_005257667.1:c.172-1603_172-1599del	XM_005257667.1:c.172-1602_172-1599del	XM_005257667.1:c.172-1601_172-1599del	XM_005257667.1:c.172-1600_172-1599del	XM_005257667.1:c.172-1599del	XM_005257667.1:c.172-1599dup	XM_005257667.1:c.172-1600_172-1599dup	XM_005257667.1:c.172-1602_172-1599dup	XM_005257667.1:c.172-1603_172-1599dup

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#.

41 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss947374560	Aug 21, 2014 (142)
2	EVA_UK10K_ALSPAC	ss1708848972	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1708849292	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1710743938	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1710743940	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710743941	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710743943	Apr 01, 2015 (144)
8	SWEGEN	ss3015902613	Nov 17, 2017 (151)
9	EVA_DECODE	ss3700914070	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700914071	Jul 13, 2019 (153)
11	EVA_DECODE	ss3700914072	Jul 13, 2019 (153)
12	EVA_DECODE	ss3700914073	Jul 13, 2019 (153)
13	EVA_DECODE	ss3700914074	Jul 13, 2019 (153)
14	PACBIO	ss3788268101	Jul 13, 2019 (153)
15	PACBIO	ss3798099650	Jul 13, 2019 (153)
16	EVA	ss3834977837	Apr 27, 2020 (154)
17	GNOMAD	ss4315658034	Apr 27, 2021 (155)
18	GNOMAD	ss4315658035	Apr 27, 2021 (155)
19	GNOMAD	ss4315658036	Apr 27, 2021 (155)
20	GNOMAD	ss4315658037	Apr 27, 2021 (155)
21	GNOMAD	ss4315658038	Apr 27, 2021 (155)
22	GNOMAD	ss4315658039	Apr 27, 2021 (155)
23	GNOMAD	ss4315658040	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5223476485	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5223476486	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5223476487	Apr 27, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5303933656	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5303933657	Oct 16, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5303933658	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5303933659	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5496899172	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5496899173	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5496899174	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5780019279	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5780019280	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5780019281	Oct 16, 2022 (156)
37	EVA	ss5834287494	Oct 16, 2022 (156)
38	EVA	ss5834287495	Oct 16, 2022 (156)
39	EVA	ss5834287496	Oct 16, 2022 (156)
40	EVA	ss5851896209	Oct 16, 2022 (156)
41	EVA	ss5980983026	Oct 16, 2022 (156)
42	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40353773 (NC_000017.10:73123155:A: 1506/3854) Row 40353775 (NC_000017.10:73123154:AAA: 125/3854)	-	Oct 12, 2018 (152)
43	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40353773 (NC_000017.10:73123155:A: 1506/3854) Row 40353775 (NC_000017.10:73123154:AAA: 125/3854)	-	Oct 12, 2018 (152)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 513871559 (NC_000017.11:75127059::A 2184/94232) Row 513871560 (NC_000017.11:75127059::AA 6/94280) Row 513871561 (NC_000017.11:75127059::AAAAA 2/94278)...	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 81445792 (NC_000017.10:73123154:A: 14215/16378) Row 81445793 (NC_000017.10:73123154:AA: 45/16378) Row 81445794 (NC_000017.10:73123154::A 171/16378)	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 81445792 (NC_000017.10:73123154:A: 14215/16378) Row 81445793 (NC_000017.10:73123154:AA: 45/16378) Row 81445794 (NC_000017.10:73123154::A 171/16378)	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 81445792 (NC_000017.10:73123154:A: 14215/16378) Row 81445793 (NC_000017.10:73123154:AA: 45/16378) Row 81445794 (NC_000017.10:73123154::A 171/16378)	-	Apr 27, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 113856383 (NC_000017.11:75127059:A: 25699/28076) Row 113856384 (NC_000017.11:75127059:AA: 55/28076) Row 113856385 (NC_000017.11:75127059::A 303/28076)	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 113856383 (NC_000017.11:75127059:A: 25699/28076) Row 113856384 (NC_000017.11:75127059:AA: 55/28076) Row 113856385 (NC_000017.11:75127059::A 303/28076)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 113856383 (NC_000017.11:75127059:A: 25699/28076) Row 113856384 (NC_000017.11:75127059:AA: 55/28076) Row 113856385 (NC_000017.11:75127059::A 303/28076)	-	Oct 16, 2022 (156)
58	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40353773 (NC_000017.10:73123155:A: 1357/3708) Row 40353775 (NC_000017.10:73123154:AAA: 105/3708)	-	Oct 12, 2018 (152)
59	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40353773 (NC_000017.10:73123155:AA: 1357/3708) Row 40353774 (NC_000017.10:73123156:A: 2240/3708) Row 40353775 (NC_000017.10:73123154:AAA: 105/3708)	-	Apr 27, 2020 (154)
60	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40353773 (NC_000017.10:73123155:A: 1357/3708) Row 40353775 (NC_000017.10:73123154:AAA: 105/3708)	-	Oct 12, 2018 (152)
61	ALFA	NC_000017.11 - 75127060	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
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4315658040	NC_000017.11:75127059:AAAAA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3700914074, ss4315658039	NC_000017.11:75127059:AAAA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1708848972, ss1708849292, ss5834287496	NC_000017.10:73123154:AAA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4315658038	NC_000017.11:75127059:AAA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3700914073	NC_000017.11:75127060:AAA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3015902613, ss5223476486, ss5834287495	NC_000017.10:73123154:AA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710743938, ss1710743941	NC_000017.10:73123155:AA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4315658037, ss5303933657, ss5496899174, ss5780019280	NC_000017.11:75127059:AA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3700914072	NC_000017.11:75127061:AA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3788268101, ss3798099650, ss3834977837, ss5223476485, ss5834287494, ss5980983026	NC_000017.10:73123154:A:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
	NC_000017.10:73123155:A:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710743940, ss1710743943	NC_000017.10:73123156:A:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5303933656, ss5496899172, ss5780019279, ss5851896209	NC_000017.11:75127059:A:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3700914071	NC_000017.11:75127062:A:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5223476487	NC_000017.10:73123154::A	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss947374560	NC_000017.10:73123155::A	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4315658034, ss5303933658, ss5496899173, ss5780019281	NC_000017.11:75127059::A	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3700914070	NC_000017.11:75127063::A	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4315658035, ss5303933659	NC_000017.11:75127059::AA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4315658036	NC_000017.11:75127059::AAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
2918869165	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3268800073	NC_000017.11:75127059:AAAAAAAAA:	NC_000017.11:75127059:AAAAAAAAAAAA… NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

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

No publications for rs561709280

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

rs561709280