Name: rs56358409
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.

rs56358409

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:57717402-57717416 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.05463 (555/10160, ALFA)
dupA=0.2716 (1360/5008, 1000G)
dupAA=0.0947 (365/3854, ALSPAC) (+ 2 more)
dupAA=0.0887 (329/3708, TWINSUK)
dupA=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DRC7 : 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	10160	AAAAAAAAAAAAAAA=0.91693	AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.05463, AAAAAAAAAAAAAAAAA=0.02835, AAAAAAAAAAAAAAAAAA=0.00010, AAAAAAAAAAAAAAAAAAA=0.00000	0.910073	0.015161	0.074766	32
European	Sub	8834	AAAAAAAAAAAAAAA=0.9047	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0627, AAAAAAAAAAAAAAAAA=0.0325, AAAAAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAAAAAA=0.0000	0.895979	0.017578	0.086444	32
African	Sub	742	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	24	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	718	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	26	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	22	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	74	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	194	AAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	228	AAAAAAAAAAAAAAA=0.991	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000	0.99115	0.0	0.00885	0

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	10160	(A)₁₅=0.91693	delAA=0.00000, delA=0.00000, dupA=0.05463, dupAA=0.02835, dupAAA=0.00010, dup(A)₄=0.00000
Allele Frequency Aggregator	European	Sub	8834	(A)₁₅=0.9047	delAA=0.0000, delA=0.0000, dupA=0.0627, dupAA=0.0325, dupAAA=0.0001, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	742	(A)₁₅=1.000	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	228	(A)₁₅=0.991	delAA=0.000, delA=0.000, dupA=0.004, dupAA=0.004, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	194	(A)₁₅=1.000	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)₁₅=1.00	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	62	(A)₁₅=1.00	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	26	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.2716
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.3079
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.3919
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.1779
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.167
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.311
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupAA=0.0947
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupAA=0.0887
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupA=0.25

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 16	NC_000016.10:g.57717413_57717416del
GRCh38.p14 chr 16	NC_000016.10:g.57717414_57717416del
GRCh38.p14 chr 16	NC_000016.10:g.57717415_57717416del
GRCh38.p14 chr 16	NC_000016.10:g.57717416del
GRCh38.p14 chr 16	NC_000016.10:g.57717416dup
GRCh38.p14 chr 16	NC_000016.10:g.57717415_57717416dup
GRCh38.p14 chr 16	NC_000016.10:g.57717414_57717416dup
GRCh38.p14 chr 16	NC_000016.10:g.57717413_57717416dup
GRCh38.p14 chr 16	NC_000016.10:g.57717407_57717416dup
GRCh37.p13 chr 16	NC_000016.9:g.57751325_57751328del
GRCh37.p13 chr 16	NC_000016.9:g.57751326_57751328del
GRCh37.p13 chr 16	NC_000016.9:g.57751327_57751328del
GRCh37.p13 chr 16	NC_000016.9:g.57751328del
GRCh37.p13 chr 16	NC_000016.9:g.57751328dup
GRCh37.p13 chr 16	NC_000016.9:g.57751327_57751328dup
GRCh37.p13 chr 16	NC_000016.9:g.57751326_57751328dup
GRCh37.p13 chr 16	NC_000016.9:g.57751325_57751328dup
GRCh37.p13 chr 16	NC_000016.9:g.57751319_57751328dup

Gene: DRC7, dynein regulatory complex subunit 7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DRC7 transcript variant 1	NM_001289162.2:c.1078-934… NM_001289162.2:c.1078-934_1078-931del	N/A	Intron Variant
DRC7 transcript variant 3	NM_001289163.2:c.883-934_… NM_001289163.2:c.883-934_883-931del	N/A	Intron Variant
DRC7 transcript variant 2	NM_032269.6:c.1078-934_10… NM_032269.6:c.1078-934_1078-931del	N/A	Intron Variant
DRC7 transcript variant X1	XM_047434768.1:c.1078-934… XM_047434768.1:c.1078-934_1078-931del	N/A	Intron Variant
DRC7 transcript variant X2	XM_047434769.1:c.1078-934… XM_047434769.1:c.1078-934_1078-931del	N/A	Intron Variant
DRC7 transcript variant X3	XM_047434770.1:c.1078-934… XM_047434770.1:c.1078-934_1078-931del	N/A	Intron Variant
DRC7 transcript variant X4	XM_047434771.1:c.883-934_… XM_047434771.1:c.883-934_883-931del	N/A	Intron Variant
DRC7 transcript variant X5	XM_047434772.1:c.883-934_… XM_047434772.1:c.883-934_883-931del	N/A	Intron Variant
DRC7 transcript variant X6	XM_047434773.1:c.223-934_… XM_047434773.1:c.223-934_223-931del	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)₁₅=	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₁₀
GRCh38.p14 chr 16	NC_000016.10:g.57717402_57717416=	NC_000016.10:g.57717413_57717416del	NC_000016.10:g.57717414_57717416del	NC_000016.10:g.57717415_57717416del	NC_000016.10:g.57717416del	NC_000016.10:g.57717416dup	NC_000016.10:g.57717415_57717416dup	NC_000016.10:g.57717414_57717416dup	NC_000016.10:g.57717413_57717416dup	NC_000016.10:g.57717407_57717416dup
GRCh37.p13 chr 16	NC_000016.9:g.57751314_57751328=	NC_000016.9:g.57751325_57751328del	NC_000016.9:g.57751326_57751328del	NC_000016.9:g.57751327_57751328del	NC_000016.9:g.57751328del	NC_000016.9:g.57751328dup	NC_000016.9:g.57751327_57751328dup	NC_000016.9:g.57751326_57751328dup	NC_000016.9:g.57751325_57751328dup	NC_000016.9:g.57751319_57751328dup
DRC7 transcript variant 1	NM_001289162.2:c.1078-945=	NM_001289162.2:c.1078-934_1078-931del	NM_001289162.2:c.1078-933_1078-931del	NM_001289162.2:c.1078-932_1078-931del	NM_001289162.2:c.1078-931del	NM_001289162.2:c.1078-931dup	NM_001289162.2:c.1078-932_1078-931dup	NM_001289162.2:c.1078-933_1078-931dup	NM_001289162.2:c.1078-934_1078-931dup	NM_001289162.2:c.1078-940_1078-931dup
DRC7 transcript variant 3	NM_001289163.2:c.883-945=	NM_001289163.2:c.883-934_883-931del	NM_001289163.2:c.883-933_883-931del	NM_001289163.2:c.883-932_883-931del	NM_001289163.2:c.883-931del	NM_001289163.2:c.883-931dup	NM_001289163.2:c.883-932_883-931dup	NM_001289163.2:c.883-933_883-931dup	NM_001289163.2:c.883-934_883-931dup	NM_001289163.2:c.883-940_883-931dup
DRC7 transcript variant 2	NM_032269.5:c.1078-945=	NM_032269.5:c.1078-934_1078-931del	NM_032269.5:c.1078-933_1078-931del	NM_032269.5:c.1078-932_1078-931del	NM_032269.5:c.1078-931del	NM_032269.5:c.1078-931dup	NM_032269.5:c.1078-932_1078-931dup	NM_032269.5:c.1078-933_1078-931dup	NM_032269.5:c.1078-934_1078-931dup	NM_032269.5:c.1078-940_1078-931dup
DRC7 transcript variant 2	NM_032269.6:c.1078-945=	NM_032269.6:c.1078-934_1078-931del	NM_032269.6:c.1078-933_1078-931del	NM_032269.6:c.1078-932_1078-931del	NM_032269.6:c.1078-931del	NM_032269.6:c.1078-931dup	NM_032269.6:c.1078-932_1078-931dup	NM_032269.6:c.1078-933_1078-931dup	NM_032269.6:c.1078-934_1078-931dup	NM_032269.6:c.1078-940_1078-931dup
CCDC135 transcript variant X1	XM_005256202.1:c.1078-945=	XM_005256202.1:c.1078-934_1078-931del	XM_005256202.1:c.1078-933_1078-931del	XM_005256202.1:c.1078-932_1078-931del	XM_005256202.1:c.1078-931del	XM_005256202.1:c.1078-931dup	XM_005256202.1:c.1078-932_1078-931dup	XM_005256202.1:c.1078-933_1078-931dup	XM_005256202.1:c.1078-934_1078-931dup	XM_005256202.1:c.1078-940_1078-931dup
CCDC135 transcript variant X2	XM_005256203.1:c.883-945=	XM_005256203.1:c.883-934_883-931del	XM_005256203.1:c.883-933_883-931del	XM_005256203.1:c.883-932_883-931del	XM_005256203.1:c.883-931del	XM_005256203.1:c.883-931dup	XM_005256203.1:c.883-932_883-931dup	XM_005256203.1:c.883-933_883-931dup	XM_005256203.1:c.883-934_883-931dup	XM_005256203.1:c.883-940_883-931dup
DRC7 transcript variant X1	XM_047434768.1:c.1078-945=	XM_047434768.1:c.1078-934_1078-931del	XM_047434768.1:c.1078-933_1078-931del	XM_047434768.1:c.1078-932_1078-931del	XM_047434768.1:c.1078-931del	XM_047434768.1:c.1078-931dup	XM_047434768.1:c.1078-932_1078-931dup	XM_047434768.1:c.1078-933_1078-931dup	XM_047434768.1:c.1078-934_1078-931dup	XM_047434768.1:c.1078-940_1078-931dup
DRC7 transcript variant X2	XM_047434769.1:c.1078-945=	XM_047434769.1:c.1078-934_1078-931del	XM_047434769.1:c.1078-933_1078-931del	XM_047434769.1:c.1078-932_1078-931del	XM_047434769.1:c.1078-931del	XM_047434769.1:c.1078-931dup	XM_047434769.1:c.1078-932_1078-931dup	XM_047434769.1:c.1078-933_1078-931dup	XM_047434769.1:c.1078-934_1078-931dup	XM_047434769.1:c.1078-940_1078-931dup
DRC7 transcript variant X3	XM_047434770.1:c.1078-945=	XM_047434770.1:c.1078-934_1078-931del	XM_047434770.1:c.1078-933_1078-931del	XM_047434770.1:c.1078-932_1078-931del	XM_047434770.1:c.1078-931del	XM_047434770.1:c.1078-931dup	XM_047434770.1:c.1078-932_1078-931dup	XM_047434770.1:c.1078-933_1078-931dup	XM_047434770.1:c.1078-934_1078-931dup	XM_047434770.1:c.1078-940_1078-931dup
DRC7 transcript variant X4	XM_047434771.1:c.883-945=	XM_047434771.1:c.883-934_883-931del	XM_047434771.1:c.883-933_883-931del	XM_047434771.1:c.883-932_883-931del	XM_047434771.1:c.883-931del	XM_047434771.1:c.883-931dup	XM_047434771.1:c.883-932_883-931dup	XM_047434771.1:c.883-933_883-931dup	XM_047434771.1:c.883-934_883-931dup	XM_047434771.1:c.883-940_883-931dup
DRC7 transcript variant X5	XM_047434772.1:c.883-945=	XM_047434772.1:c.883-934_883-931del	XM_047434772.1:c.883-933_883-931del	XM_047434772.1:c.883-932_883-931del	XM_047434772.1:c.883-931del	XM_047434772.1:c.883-931dup	XM_047434772.1:c.883-932_883-931dup	XM_047434772.1:c.883-933_883-931dup	XM_047434772.1:c.883-934_883-931dup	XM_047434772.1:c.883-940_883-931dup
DRC7 transcript variant X6	XM_047434773.1:c.223-945=	XM_047434773.1:c.223-934_223-931del	XM_047434773.1:c.223-933_223-931del	XM_047434773.1:c.223-932_223-931del	XM_047434773.1:c.223-931del	XM_047434773.1:c.223-931dup	XM_047434773.1:c.223-932_223-931dup	XM_047434773.1:c.223-933_223-931dup	XM_047434773.1:c.223-934_223-931dup	XM_047434773.1:c.223-940_223-931dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

46 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77969865	Dec 07, 2007 (129)
2	HGSV	ss81128091	Dec 14, 2007 (130)
3	HGSV	ss81549900	Dec 14, 2007 (130)
4	SSMP	ss664320007	Apr 01, 2015 (144)
5	1000GENOMES	ss1375889732	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1574964884	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1708557802	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1708558191	Apr 01, 2015 (144)
9	HAMMER_LAB	ss1808531925	Sep 08, 2015 (146)
10	SWEGEN	ss3014580627	Nov 08, 2017 (151)
11	SWEGEN	ss3014580628	Nov 08, 2017 (151)
12	EVA_DECODE	ss3699345425	Jul 13, 2019 (153)
13	EVA_DECODE	ss3699345426	Jul 13, 2019 (153)
14	EVA_DECODE	ss3699345427	Jul 13, 2019 (153)
15	EVA_DECODE	ss3699345428	Jul 13, 2019 (153)
16	EVA_DECODE	ss3699345429	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3819276505	Jul 13, 2019 (153)
18	EVA	ss3834591243	Apr 27, 2020 (154)
19	KOGIC	ss3977670009	Apr 27, 2020 (154)
20	KOGIC	ss3977670010	Apr 27, 2020 (154)
21	KOGIC	ss3977670011	Apr 27, 2020 (154)
22	KOGIC	ss3977670012	Apr 27, 2020 (154)
23	GNOMAD	ss4301700529	Apr 26, 2021 (155)
24	GNOMAD	ss4301700530	Apr 26, 2021 (155)
25	GNOMAD	ss4301700531	Apr 26, 2021 (155)
26	GNOMAD	ss4301700532	Apr 26, 2021 (155)
27	GNOMAD	ss4301700534	Apr 26, 2021 (155)
28	GNOMAD	ss4301700535	Apr 26, 2021 (155)
29	GNOMAD	ss4301700536	Apr 26, 2021 (155)
30	GNOMAD	ss4301700537	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5219759804	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5219759805	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5219759806	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5301103960	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5301103961	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5301103962	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5301103963	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5494442323	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5494442324	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5494442325	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5774823846	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5774823847	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5774823848	Oct 16, 2022 (156)
44	EVA	ss5846466276	Oct 16, 2022 (156)
45	EVA	ss5851584392	Oct 16, 2022 (156)
46	EVA	ss5950381288	Oct 16, 2022 (156)
47	1000Genomes	NC_000016.9 - 57751314	Oct 12, 2018 (152)
48	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 57751314	Oct 12, 2018 (152)
49	The Danish reference pan genome	NC_000016.9 - 57751314	Apr 27, 2020 (154)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 490756861 (NC_000016.10:57717401::A 20558/122266) Row 490756862 (NC_000016.10:57717401::AA 19399/122154) Row 490756863 (NC_000016.10:57717401::AAA 81/122378)...	-	Apr 26, 2021 (155)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 34048010 (NC_000016.10:57717402::A 566/1824) Row 34048011 (NC_000016.10:57717401:A: 19/1824) Row 34048012 (NC_000016.10:57717402::AA 407/1824)...	-	Apr 27, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 34048010 (NC_000016.10:57717402::A 566/1824) Row 34048011 (NC_000016.10:57717401:A: 19/1824) Row 34048012 (NC_000016.10:57717402::AA 407/1824)...	-	Apr 27, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 34048010 (NC_000016.10:57717402::A 566/1824) Row 34048011 (NC_000016.10:57717401:A: 19/1824) Row 34048012 (NC_000016.10:57717402::AA 407/1824)...	-	Apr 27, 2020 (154)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 34048010 (NC_000016.10:57717402::A 566/1824) Row 34048011 (NC_000016.10:57717401:A: 19/1824) Row 34048012 (NC_000016.10:57717402::AA 407/1824)...	-	Apr 27, 2020 (154)
62	8.3KJPN Submission ignored due to conflicting rows: Row 77729111 (NC_000016.9:57751313::AA 3945/16484) Row 77729112 (NC_000016.9:57751313::A 4190/16484) Row 77729113 (NC_000016.9:57751313::AAA 2/16484)	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 77729111 (NC_000016.9:57751313::AA 3945/16484) Row 77729112 (NC_000016.9:57751313::A 4190/16484) Row 77729113 (NC_000016.9:57751313::AAA 2/16484)	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 77729111 (NC_000016.9:57751313::AA 3945/16484) Row 77729112 (NC_000016.9:57751313::A 4190/16484) Row 77729113 (NC_000016.9:57751313::AAA 2/16484)	-	Apr 26, 2021 (155)
65	14KJPN Submission ignored due to conflicting rows: Row 108660950 (NC_000016.10:57717401::A 7141/28198) Row 108660951 (NC_000016.10:57717401::AA 6782/28198) Row 108660952 (NC_000016.10:57717401::AAA 5/28198)	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 108660950 (NC_000016.10:57717401::A 7141/28198) Row 108660951 (NC_000016.10:57717401::AA 6782/28198) Row 108660952 (NC_000016.10:57717401::AAA 5/28198)	-	Oct 16, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 108660950 (NC_000016.10:57717401::A 7141/28198) Row 108660951 (NC_000016.10:57717401::AA 6782/28198) Row 108660952 (NC_000016.10:57717401::AAA 5/28198)	-	Oct 16, 2022 (156)
68	UK 10K study - Twins	NC_000016.9 - 57751314	Oct 12, 2018 (152)
69	ALFA	NC_000016.10 - 57717402	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)
rs56973981	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4301700537	NC_000016.10:57717401:AAAA:	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4301700536	NC_000016.10:57717401:AAA:	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3699345429, ss4301700535	NC_000016.10:57717401:AA:	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10885023439	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3977670010, ss4301700534, ss5301103962, ss5494442323	NC_000016.10:57717401:A:	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10885023439	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3699345428	NC_000016.10:57717402:A:	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
69580209, 530285, ss1375889732, ss1574964884, ss1808531925, ss3014580627, ss3834591243, ss5219759805	NC_000016.9:57751313::A	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3819276505, ss4301700529, ss5301103960, ss5494442324, ss5774823846	NC_000016.10:57717401::A	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10885023439	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3977670009	NC_000016.10:57717402::A	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3699345427	NC_000016.10:57717403::A	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss77969865	NT_010498.15:11365527::A	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
38596580, 38596580, ss664320007, ss1708557802, ss1708558191, ss3014580628, ss5219759804, ss5846466276, ss5950381288	NC_000016.9:57751313::AA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4301700530, ss5301103961, ss5494442325, ss5774823847, ss5851584392	NC_000016.10:57717401::AA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10885023439	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3977670011	NC_000016.10:57717402::AA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3699345426	NC_000016.10:57717403::AA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss81128091, ss81549900	NT_010498.15:11365527::AA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5219759806	NC_000016.9:57751313::AAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4301700531, ss5301103963, ss5774823848	NC_000016.10:57717401::AAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10885023439	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3977670012	NC_000016.10:57717402::AAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4301700532	NC_000016.10:57717401::AAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10885023439	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3699345425	NC_000016.10:57717403::AAAAAAAAAA	NC_000016.10:57717401:AAAAAAAAAAAA… NC_000016.10:57717401:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs56358409

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

rs56358409