Name: rs58396316
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.

rs58396316

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:5187888-5187905 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₇ / dup(T)₁₅ / dup(T)₁₆
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.4426 (2368/5350, ALFA)
dupT=0.3710 (1858/5008, 1000G)
(T)₁₈=0.38 (15/40, GENOME_DK) (+ 1 more)
dupT=0.2 (2/8, KOREAN)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF594 : 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	5350	TTTTTTTTTTTTTTTTTT=0.5079	TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0469, TTTTTTTTTTTTTTTTTTT=0.4426, TTTTTTTTTTTTTTTTTTTT=0.0022, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.472509	0.38363	0.143861	32
European	Sub	4702	TTTTTTTTTTTTTTTTTT=0.4407	TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0532, TTTTTTTTTTTTTTTTTTT=0.5032, TTTTTTTTTTTTTTTTTTTT=0.0026, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	0.391698	0.442748	0.165553	32
African	Sub	442	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	20	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	422	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	28	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	24	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	12	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	66	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	46	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	54	TTTTTTTTTTTTTTTTTT=0.94	TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	0.961538	0.0	0.038462	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	5350	(T)₁₈=0.5079	delTTT=0.0000, delTT=0.0000, delT=0.0469, dupT=0.4426, dupTT=0.0022, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₇=0.0004
Allele Frequency Aggregator	European	Sub	4702	(T)₁₈=0.4407	delTTT=0.0000, delTT=0.0000, delT=0.0532, dupT=0.5032, dupTT=0.0026, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₇=0.0004
Allele Frequency Aggregator	African	Sub	442	(T)₁₈=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	66	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Other	Sub	54	(T)₁₈=0.94	delTTT=0.00, delTT=0.00, delT=0.02, dupT=0.04, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	46	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Asian	Sub	28	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	12	(T)₁₈=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₇=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.3710
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.3744
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.2232
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.5835
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.217
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.488
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.62
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	dupT=0.2

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.5187903_5187905del
GRCh38.p14 chr 17	NC_000017.11:g.5187904_5187905del
GRCh38.p14 chr 17	NC_000017.11:g.5187905del
GRCh38.p14 chr 17	NC_000017.11:g.5187905dup
GRCh38.p14 chr 17	NC_000017.11:g.5187904_5187905dup
GRCh38.p14 chr 17	NC_000017.11:g.5187903_5187905dup
GRCh38.p14 chr 17	NC_000017.11:g.5187902_5187905dup
GRCh38.p14 chr 17	NC_000017.11:g.5187899_5187905dup
GRCh38.p14 chr 17	NC_000017.11:g.5187891_5187905dup
GRCh38.p14 chr 17	NC_000017.11:g.5187890_5187905dup
GRCh37.p13 chr 17	NC_000017.10:g.5091198_5091200del
GRCh37.p13 chr 17	NC_000017.10:g.5091199_5091200del
GRCh37.p13 chr 17	NC_000017.10:g.5091200del
GRCh37.p13 chr 17	NC_000017.10:g.5091200dup
GRCh37.p13 chr 17	NC_000017.10:g.5091199_5091200dup
GRCh37.p13 chr 17	NC_000017.10:g.5091198_5091200dup
GRCh37.p13 chr 17	NC_000017.10:g.5091197_5091200dup
GRCh37.p13 chr 17	NC_000017.10:g.5091194_5091200dup
GRCh37.p13 chr 17	NC_000017.10:g.5091186_5091200dup
GRCh37.p13 chr 17	NC_000017.10:g.5091185_5091200dup

Gene: ZNF594, zinc finger protein 594 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF594 transcript	NM_032530.2:c.-20-3614_-2… NM_032530.2:c.-20-3614_-20-3612del	N/A	Intron Variant
ZNF594 transcript variant X1	XM_005256827.4:c.-21+3542… XM_005256827.4:c.-21+3542_-21+3544del	N/A	Intron Variant
ZNF594 transcript variant X2	XR_001752666.3:n.	N/A	Intron Variant
ZNF594 transcript variant X5	XR_001752667.3:n.	N/A	Intron Variant
ZNF594 transcript variant X3	XR_007065504.1:n.	N/A	Intron Variant
ZNF594 transcript variant X4	XR_007065505.1: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	(T)₁₈=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₇	dup(T)₁₅	dup(T)₁₆
GRCh38.p14 chr 17	NC_000017.11:g.5187888_5187905=	NC_000017.11:g.5187903_5187905del	NC_000017.11:g.5187904_5187905del	NC_000017.11:g.5187905del	NC_000017.11:g.5187905dup	NC_000017.11:g.5187904_5187905dup	NC_000017.11:g.5187903_5187905dup	NC_000017.11:g.5187902_5187905dup	NC_000017.11:g.5187899_5187905dup	NC_000017.11:g.5187891_5187905dup	NC_000017.11:g.5187890_5187905dup
GRCh37.p13 chr 17	NC_000017.10:g.5091183_5091200=	NC_000017.10:g.5091198_5091200del	NC_000017.10:g.5091199_5091200del	NC_000017.10:g.5091200del	NC_000017.10:g.5091200dup	NC_000017.10:g.5091199_5091200dup	NC_000017.10:g.5091198_5091200dup	NC_000017.10:g.5091197_5091200dup	NC_000017.10:g.5091194_5091200dup	NC_000017.10:g.5091186_5091200dup	NC_000017.10:g.5091185_5091200dup
ZNF594 transcript	NM_032530.1:c.-20-3612=	NM_032530.1:c.-20-3614_-20-3612del	NM_032530.1:c.-20-3613_-20-3612del	NM_032530.1:c.-20-3612del	NM_032530.1:c.-20-3612dup	NM_032530.1:c.-20-3613_-20-3612dup	NM_032530.1:c.-20-3614_-20-3612dup	NM_032530.1:c.-20-3615_-20-3612dup	NM_032530.1:c.-20-3618_-20-3612dup	NM_032530.1:c.-20-3626_-20-3612dup	NM_032530.1:c.-20-3627_-20-3612dup
ZNF594 transcript	NM_032530.2:c.-20-3612=	NM_032530.2:c.-20-3614_-20-3612del	NM_032530.2:c.-20-3613_-20-3612del	NM_032530.2:c.-20-3612del	NM_032530.2:c.-20-3612dup	NM_032530.2:c.-20-3613_-20-3612dup	NM_032530.2:c.-20-3614_-20-3612dup	NM_032530.2:c.-20-3615_-20-3612dup	NM_032530.2:c.-20-3618_-20-3612dup	NM_032530.2:c.-20-3626_-20-3612dup	NM_032530.2:c.-20-3627_-20-3612dup
ZNF594 transcript variant X1	XM_005256827.1:c.-21+3544=	XM_005256827.1:c.-21+3542_-21+3544del	XM_005256827.1:c.-21+3543_-21+3544del	XM_005256827.1:c.-21+3544del	XM_005256827.1:c.-21+3544dup	XM_005256827.1:c.-21+3543_-21+3544dup	XM_005256827.1:c.-21+3542_-21+3544dup	XM_005256827.1:c.-21+3541_-21+3544dup	XM_005256827.1:c.-21+3538_-21+3544dup	XM_005256827.1:c.-21+3530_-21+3544dup	XM_005256827.1:c.-21+3529_-21+3544dup
ZNF594 transcript variant X1	XM_005256827.4:c.-21+3544=	XM_005256827.4:c.-21+3542_-21+3544del	XM_005256827.4:c.-21+3543_-21+3544del	XM_005256827.4:c.-21+3544del	XM_005256827.4:c.-21+3544dup	XM_005256827.4:c.-21+3543_-21+3544dup	XM_005256827.4:c.-21+3542_-21+3544dup	XM_005256827.4:c.-21+3541_-21+3544dup	XM_005256827.4:c.-21+3538_-21+3544dup	XM_005256827.4:c.-21+3530_-21+3544dup	XM_005256827.4:c.-21+3529_-21+3544dup

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#.

44 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82386978	Dec 03, 2013 (142)
2	HUMANGENOME_JCVI	ss95687148	Dec 05, 2013 (142)
3	PJP	ss294902582	May 09, 2011 (135)
4	BILGI_BIOE	ss666682605	Apr 25, 2013 (138)
5	SSIP	ss947363791	Oct 12, 2018 (152)
6	1000GENOMES	ss1376325144	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1575015377	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1708668702	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1708668704	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1708668782	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1708668783	Apr 01, 2015 (144)
12	SWEGEN	ss3015124528	Nov 08, 2017 (151)
13	EVA_DECODE	ss3699998908	Jul 13, 2019 (153)
14	EVA_DECODE	ss3699998909	Jul 13, 2019 (153)
15	EVA_DECODE	ss3699998910	Jul 13, 2019 (153)
16	EVA_DECODE	ss3699998911	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3819667242	Jul 13, 2019 (153)
18	EVA	ss3834756141	Apr 27, 2020 (154)
19	KRGDB	ss3934834712	Apr 27, 2020 (154)
20	GNOMAD	ss4307242480	Apr 27, 2021 (155)
21	GNOMAD	ss4307242481	Apr 27, 2021 (155)
22	GNOMAD	ss4307242482	Apr 27, 2021 (155)
23	GNOMAD	ss4307242483	Apr 27, 2021 (155)
24	GNOMAD	ss4307242484	Apr 27, 2021 (155)
25	GNOMAD	ss4307242485	Apr 27, 2021 (155)
26	GNOMAD	ss4307242487	Apr 27, 2021 (155)
27	GNOMAD	ss4307242488	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5221298120	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5221298121	Apr 27, 2021 (155)
30	TOMMO_GENOMICS	ss5221298122	Apr 27, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5302275477	Oct 16, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5302275478	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5302275479	Oct 16, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5302275480	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5495465853	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5495465854	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5495465855	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5776833914	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5776833915	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5776833917	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5776833918	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5776833919	Oct 16, 2022 (156)
43	EVA	ss5833661590	Oct 16, 2022 (156)
44	EVA	ss5851720049	Oct 16, 2022 (156)
45	1000Genomes	NC_000017.10 - 5091183	Oct 12, 2018 (152)
46	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39346120 (NC_000017.10:5091182::T 2482/3854) Row 39346121 (NC_000017.10:5091182::TT 285/3854)	-	Oct 12, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39346120 (NC_000017.10:5091182::T 2482/3854) Row 39346121 (NC_000017.10:5091182::TT 285/3854)	-	Oct 12, 2018 (152)
48	The Danish reference pan genome	NC_000017.10 - 5091183	Apr 27, 2020 (154)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 500277314 (NC_000017.11:5187887::T 79505/121542) Row 500277315 (NC_000017.11:5187887::TT 1907/121558) Row 500277316 (NC_000017.11:5187887::TTT 29/121566)...	-	Apr 27, 2021 (155)
57	KOREAN population from KRGDB	NC_000017.10 - 5091183	Apr 27, 2020 (154)
58	8.3KJPN Submission ignored due to conflicting rows: Row 79267427 (NC_000017.10:5091182:T: 2236/16676) Row 79267428 (NC_000017.10:5091182::T 4158/16676) Row 79267429 (NC_000017.10:5091182::TT 3/16676)	-	Apr 27, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 79267427 (NC_000017.10:5091182:T: 2236/16676) Row 79267428 (NC_000017.10:5091182::T 4158/16676) Row 79267429 (NC_000017.10:5091182::TT 3/16676)	-	Apr 27, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 79267427 (NC_000017.10:5091182:T: 2236/16676) Row 79267428 (NC_000017.10:5091182::T 4158/16676) Row 79267429 (NC_000017.10:5091182::TT 3/16676)	-	Apr 27, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 110671018 (NC_000017.11:5187887:T: 3982/28252) Row 110671019 (NC_000017.11:5187887::T 7410/28252) Row 110671021 (NC_000017.11:5187887:TT: 5/28252)...	-	Oct 16, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 110671018 (NC_000017.11:5187887:T: 3982/28252) Row 110671019 (NC_000017.11:5187887::T 7410/28252) Row 110671021 (NC_000017.11:5187887:TT: 5/28252)...	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 110671018 (NC_000017.11:5187887:T: 3982/28252) Row 110671019 (NC_000017.11:5187887::T 7410/28252) Row 110671021 (NC_000017.11:5187887:TT: 5/28252)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 110671018 (NC_000017.11:5187887:T: 3982/28252) Row 110671019 (NC_000017.11:5187887::T 7410/28252) Row 110671021 (NC_000017.11:5187887:TT: 5/28252)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 110671018 (NC_000017.11:5187887:T: 3982/28252) Row 110671019 (NC_000017.11:5187887::T 7410/28252) Row 110671021 (NC_000017.11:5187887:TT: 5/28252)...	-	Oct 16, 2022 (156)
66	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39346120 (NC_000017.10:5091182::T 2380/3708) Row 39346121 (NC_000017.10:5091182::TT 274/3708)	-	Oct 12, 2018 (152)
67	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39346120 (NC_000017.10:5091182::T 2380/3708) Row 39346121 (NC_000017.10:5091182::TT 274/3708)	-	Oct 12, 2018 (152)
68	ALFA	NC_000017.11 - 5187888	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).

Associated ID	History Updated (Build)
rs68021805	May 11, 2012 (137)
rs68021806	Feb 27, 2009 (130)
rs145709263	Sep 17, 2011 (135)
rs397829047	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3699998908, ss4307242488, ss5776833917	NC_000017.11:5187887:TT:	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3015124528, ss5221298120	NC_000017.10:5091182:T:	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4307242487, ss5302275477, ss5495465855, ss5776833914	NC_000017.11:5187887:T:	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3699998909	NC_000017.11:5187888:T:	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss294902582	NC_000017.9:5031924::T	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
70945160, 547611, 42012106, ss666682605, ss1376325144, ss1575015377, ss1708668702, ss1708668782, ss3834756141, ss3934834712, ss5221298121, ss5833661590	NC_000017.10:5091182::T	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss947363791	NC_000017.10:5091183::T	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3819667242, ss4307242480, ss5302275478, ss5495465853, ss5776833915, ss5851720049	NC_000017.11:5187887::T	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3699998910	NC_000017.11:5187889::T	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss82386978, ss95687148	NT_010718.16:4694574::T	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1708668704, ss1708668783, ss5221298122	NC_000017.10:5091182::TT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4307242481, ss5302275479, ss5495465854, ss5776833918	NC_000017.11:5187887::TT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3699998911	NC_000017.11:5187889::TT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4307242482, ss5302275480, ss5776833919	NC_000017.11:5187887::TTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4307242483	NC_000017.11:5187887::TTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
4656271267	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4307242484	NC_000017.11:5187887::TTTTTTTTTTTT… NC_000017.11:5187887::TTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4307242485	NC_000017.11:5187887::TTTTTTTTTTTT… NC_000017.11:5187887::TTTTTTTTTTTTTTTT	NC_000017.11:5187887:TTTTTTTTTTTTT… NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs58396316

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

rs58396316