Name: rs5872193
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.

rs5872193

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:151202191-151202214 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₄ / del(A)₁₀ / del(A)₉ / de…
del(A)₁₄ / del(A)₁₀ / del(A)₉ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.3570 (1647/4614, ALFA)
(A)₂₄=0.0021 (8/3854, ALSPAC)
(A)₂₄=0.0011 (4/3708, TWINSUK) (+ 1 more)
(A)₂₄=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CCDC69 : 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	4614	AAAAAAAAAAAAAAAAAAAAAAAA=0.3741	AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.3570, AAAAAAAAAAAAAAAAAAAAAAA=0.2659, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0030, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.355725	0.242748	0.401527	24
European	Sub	4540	AAAAAAAAAAAAAAAAAAAAAAAA=0.3652	AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.3623, AAAAAAAAAAAAAAAAAAAAAAA=0.2694, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0031, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.338558	0.249216	0.412226	20
African	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	26	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	22	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAA=0.70	AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.10, AAAAAAAAAAAAAAAAAAAAAAA=0.20, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	4614	(A)₂₄=0.3741	del(A)₁₄=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.3570, delA=0.2659, dupA=0.0030, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	4540	(A)₂₄=0.3652	del(A)₁₄=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.3623, delA=0.2694, dupA=0.0031, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000
Allele Frequency Aggregator	Asian	Sub	26	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₆=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	Other	Sub	20	(A)₂₄=0.70	del(A)₁₄=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.10, delA=0.20, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	African	Sub	20	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₆=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	Latin American 2	Sub	4	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₂₄=0.0021	delAA=0.9979
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₂₄=0.0011	delAA=0.9989
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₄=0.30	delAA=0.70

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 5	NC_000005.10:g.151202201_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202205_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202206_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202209_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202210_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202211_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202212_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202213_151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202214del
GRCh38.p14 chr 5	NC_000005.10:g.151202214dup
GRCh38.p14 chr 5	NC_000005.10:g.151202213_151202214dup
GRCh38.p14 chr 5	NC_000005.10:g.151202212_151202214dup
GRCh38.p14 chr 5	NC_000005.10:g.151202211_151202214dup
GRCh37.p13 chr 5	NC_000005.9:g.150581762_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581766_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581767_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581770_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581771_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581772_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581773_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581774_150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581775del
GRCh37.p13 chr 5	NC_000005.9:g.150581775dup
GRCh37.p13 chr 5	NC_000005.9:g.150581774_150581775dup
GRCh37.p13 chr 5	NC_000005.9:g.150581773_150581775dup
GRCh37.p13 chr 5	NC_000005.9:g.150581772_150581775dup

Gene: CCDC69, coiled-coil domain containing 69 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CCDC69 transcript	NM_015621.3:c.125-516_125… NM_015621.3:c.125-516_125-503del	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)₂₄=	del(A)₁₄	del(A)₁₀	del(A)₉	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 5	NC_000005.10:g.151202191_151202214=	NC_000005.10:g.151202201_151202214del	NC_000005.10:g.151202205_151202214del	NC_000005.10:g.151202206_151202214del	NC_000005.10:g.151202209_151202214del	NC_000005.10:g.151202210_151202214del	NC_000005.10:g.151202211_151202214del	NC_000005.10:g.151202212_151202214del	NC_000005.10:g.151202213_151202214del	NC_000005.10:g.151202214del	NC_000005.10:g.151202214dup	NC_000005.10:g.151202213_151202214dup	NC_000005.10:g.151202212_151202214dup	NC_000005.10:g.151202211_151202214dup
GRCh37.p13 chr 5	NC_000005.9:g.150581752_150581775=	NC_000005.9:g.150581762_150581775del	NC_000005.9:g.150581766_150581775del	NC_000005.9:g.150581767_150581775del	NC_000005.9:g.150581770_150581775del	NC_000005.9:g.150581771_150581775del	NC_000005.9:g.150581772_150581775del	NC_000005.9:g.150581773_150581775del	NC_000005.9:g.150581774_150581775del	NC_000005.9:g.150581775del	NC_000005.9:g.150581775dup	NC_000005.9:g.150581774_150581775dup	NC_000005.9:g.150581773_150581775dup	NC_000005.9:g.150581772_150581775dup
CCDC69 transcript	NM_015621.2:c.125-503=	NM_015621.2:c.125-516_125-503del	NM_015621.2:c.125-512_125-503del	NM_015621.2:c.125-511_125-503del	NM_015621.2:c.125-508_125-503del	NM_015621.2:c.125-507_125-503del	NM_015621.2:c.125-506_125-503del	NM_015621.2:c.125-505_125-503del	NM_015621.2:c.125-504_125-503del	NM_015621.2:c.125-503del	NM_015621.2:c.125-503dup	NM_015621.2:c.125-504_125-503dup	NM_015621.2:c.125-505_125-503dup	NM_015621.2:c.125-506_125-503dup
CCDC69 transcript	NM_015621.3:c.125-503=	NM_015621.3:c.125-516_125-503del	NM_015621.3:c.125-512_125-503del	NM_015621.3:c.125-511_125-503del	NM_015621.3:c.125-508_125-503del	NM_015621.3:c.125-507_125-503del	NM_015621.3:c.125-506_125-503del	NM_015621.3:c.125-505_125-503del	NM_015621.3:c.125-504_125-503del	NM_015621.3:c.125-503del	NM_015621.3:c.125-503dup	NM_015621.3:c.125-504_125-503dup	NM_015621.3:c.125-505_125-503dup	NM_015621.3:c.125-506_125-503dup

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#.

52 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	DEVINE_LAB	ss8139822	Mar 15, 2016 (147)
2	ABI	ss42562016	Mar 15, 2016 (147)
3	HGSV	ss79853522	Sep 08, 2015 (146)
4	HGSV	ss80717428	Dec 15, 2007 (137)
5	HGSV	ss80793657	Dec 15, 2007 (137)
6	HGSV	ss80796532	Dec 15, 2007 (137)
7	HGSV	ss82209489	Aug 21, 2014 (142)
8	BCMHGSC_JDW	ss103720009	Mar 15, 2016 (147)
9	GMI	ss288665802	May 04, 2012 (137)
10	EVA_GENOME_DK	ss1576633742	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1704920907	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1704921355	Apr 01, 2015 (144)
13	SWEGEN	ss2998009248	Nov 08, 2017 (151)
14	MCHAISSO	ss3065056060	Nov 08, 2017 (151)
15	MCHAISSO	ss3066048871	Nov 08, 2017 (151)
16	URBANLAB	ss3648197862	Oct 12, 2018 (152)
17	EVA_DECODE	ss3715964601	Jul 13, 2019 (153)
18	EVA_DECODE	ss3715964602	Jul 13, 2019 (153)
19	EVA_DECODE	ss3715964603	Jul 13, 2019 (153)
20	EVA_DECODE	ss3715964604	Jul 13, 2019 (153)
21	ACPOP	ss3732930611	Jul 13, 2019 (153)
22	ACPOP	ss3732930612	Jul 13, 2019 (153)
23	EVA	ss3829570074	Apr 26, 2020 (154)
24	KOGIC	ss3957905333	Apr 26, 2020 (154)
25	KOGIC	ss3957905334	Apr 26, 2020 (154)
26	KOGIC	ss3957905335	Apr 26, 2020 (154)
27	GNOMAD	ss4131748254	Apr 26, 2021 (155)
28	GNOMAD	ss4131748255	Apr 26, 2021 (155)
29	GNOMAD	ss4131748256	Apr 26, 2021 (155)
30	GNOMAD	ss4131748257	Apr 26, 2021 (155)
31	GNOMAD	ss4131748258	Apr 26, 2021 (155)
32	GNOMAD	ss4131748259	Apr 26, 2021 (155)
33	GNOMAD	ss4131748260	Apr 26, 2021 (155)
34	GNOMAD	ss4131748261	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5174758337	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5174758338	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5174758339	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5266318770	Oct 13, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5266318771	Oct 13, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5266318772	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5266318773	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5266318774	Oct 13, 2022 (156)
43	HUGCELL_USP	ss5464235763	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5464235764	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5464235765	Oct 13, 2022 (156)
46	TOMMO_GENOMICS	ss5712016236	Oct 13, 2022 (156)
47	TOMMO_GENOMICS	ss5712016237	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5712016238	Oct 13, 2022 (156)
49	EVA	ss5835825274	Oct 13, 2022 (156)
50	EVA	ss5855071908	Oct 13, 2022 (156)
51	EVA	ss5896875847	Oct 13, 2022 (156)
52	EVA	ss5967631536	Oct 13, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 150581752	Oct 12, 2018 (152)
54	The Danish reference pan genome	NC_000005.9 - 150581752	Apr 26, 2020 (154)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 208360505 (NC_000005.10:151202190::A 70/102508) Row 208360506 (NC_000005.10:151202190::AA 2/102534) Row 208360507 (NC_000005.10:151202190:A: 37852/97314)...	-	Apr 26, 2021 (155)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 14283334 (NC_000005.10:151202190:AA: 626/1820) Row 14283335 (NC_000005.10:151202191:A: 389/1820) Row 14283336 (NC_000005.10:151202192::A 56/1820)	-	Apr 26, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 14283334 (NC_000005.10:151202190:AA: 626/1820) Row 14283335 (NC_000005.10:151202191:A: 389/1820) Row 14283336 (NC_000005.10:151202192::A 56/1820)	-	Apr 26, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 14283334 (NC_000005.10:151202190:AA: 626/1820) Row 14283335 (NC_000005.10:151202191:A: 389/1820) Row 14283336 (NC_000005.10:151202192::A 56/1820)	-	Apr 26, 2020 (154)
66	Northern Sweden Submission ignored due to conflicting rows: Row 6215476 (NC_000005.9:150581751:AA: 253/600) Row 6215477 (NC_000005.9:150581751:A: 87/600)	-	Jul 13, 2019 (153)
67	Northern Sweden Submission ignored due to conflicting rows: Row 6215476 (NC_000005.9:150581751:AA: 253/600) Row 6215477 (NC_000005.9:150581751:A: 87/600)	-	Jul 13, 2019 (153)
68	8.3KJPN Submission ignored due to conflicting rows: Row 32727644 (NC_000005.9:150581751:AA: 5464/16688) Row 32727645 (NC_000005.9:150581751:A: 2018/16688) Row 32727646 (NC_000005.9:150581751::A 139/16688)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 32727644 (NC_000005.9:150581751:AA: 5464/16688) Row 32727645 (NC_000005.9:150581751:A: 2018/16688) Row 32727646 (NC_000005.9:150581751::A 139/16688)	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 32727644 (NC_000005.9:150581751:AA: 5464/16688) Row 32727645 (NC_000005.9:150581751:A: 2018/16688) Row 32727646 (NC_000005.9:150581751::A 139/16688)	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 45853340 (NC_000005.10:151202190:AA: 9370/28202) Row 45853341 (NC_000005.10:151202190:A: 4226/28202) Row 45853342 (NC_000005.10:151202190::A 216/28202)	-	Oct 13, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 45853340 (NC_000005.10:151202190:AA: 9370/28202) Row 45853341 (NC_000005.10:151202190:A: 4226/28202) Row 45853342 (NC_000005.10:151202190::A 216/28202)	-	Oct 13, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 45853340 (NC_000005.10:151202190:AA: 9370/28202) Row 45853341 (NC_000005.10:151202190:A: 4226/28202) Row 45853342 (NC_000005.10:151202190::A 216/28202)	-	Oct 13, 2022 (156)
74	UK 10K study - Twins	NC_000005.9 - 150581752	Oct 12, 2018 (152)
75	ALFA	NC_000005.10 - 151202191	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)
rs5872194	Aug 27, 2003 (117)
rs33985011	May 23, 2006 (127)
rs58752441	May 04, 2012 (137)
rs60170072	Oct 14, 2011 (136)
rs60552217	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4131748261, ss5266318773, ss5464235765	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4131748260	NC_000005.10:151202190:AAAAAAAAAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4131748259	NC_000005.10:151202190:AAAAAAAAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss2998009248	NC_000005.9:150581751:AAAAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3715964604	NC_000005.10:151202190:AAAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss82209489	NC_000005.8:150561965:AAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4131748258	NC_000005.10:151202190:AAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3715964603	NC_000005.10:151202191:AAA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss288665802	NC_000005.8:150561944:AA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss79853522	NC_000005.8:150561966:AA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
16392186, 1035672, 16392186, ss1576633742, ss1704920907, ss1704921355, ss3732930611, ss5174758337, ss5835825274, ss5967631536	NC_000005.9:150581751:AA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3065056060, ss3066048871, ss3648197862, ss3957905333, ss4131748257, ss5266318771, ss5464235763, ss5712016236, ss5855071908, ss5896875847	NC_000005.10:151202190:AA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3715964602	NC_000005.10:151202192:AA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss8139822, ss42562016	NT_029289.11:11744700:AA:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss80717428, ss80793657, ss80796532	NC_000005.8:150561967:A:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3732930612, ss3829570074, ss5174758338	NC_000005.9:150581751:A:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4131748256, ss5266318770, ss5464235764, ss5712016237	NC_000005.10:151202190:A:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3957905334	NC_000005.10:151202191:A:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3715964601	NC_000005.10:151202193:A:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss103720009	NT_029289.11:11744678:A:	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss42562016	NT_029289.11:11744700:AA:A	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5174758339	NC_000005.9:150581751::A	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4131748254, ss5266318772, ss5712016238	NC_000005.10:151202190::A	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3957905335	NC_000005.10:151202192::A	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4131748255, ss5266318774	NC_000005.10:151202190::AA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
250017344	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:151202190:AAAAAAAAAAA… NC_000005.10:151202190:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs5872193

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

rs5872193