Name: rs34889554
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.

rs34889554

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:48299571-48299586 (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(TG)₃ / delTGTG / delTG / dupTG…
del(TG)₃ / delTGTG / delTG / dupTG / dupTGTG
Variation Type: Indel Insertion and Deletion
Frequency: dupTG=0.00071 (20/28258, 14KJPN)
dupTG=0.00011 (2/17912, ALFA)
dupTG=0.00078 (13/16760, 8.3KJPN) (+ 6 more)
dupTG=0.0345 (173/5008, 1000G)
dupTG=0.0007 (3/4480, Estonian)
dupTG=0.0022 (4/1832, Korea1K)
dupTG=0.002 (2/998, GoNL)
dupTG=0.002 (1/600, NorthernSweden)
dupTG=0.005 (1/216, Vietnamese)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SKAP1 : Intron Variant
SKAP1-AS2 : 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	HTRZ	HWEP
Total	Global	17912	TGTGTGTGTGTGTGTG=0.99989	TGTGTGTGTG=0.00000, TGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTG=0.00011, TGTGTGTGTGTGTGTGTGTG=0.00000	0.999777	0.000223	0
European	Sub	14132	TGTGTGTGTGTGTGTG=0.99986	TGTGTGTGTG=0.00000, TGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTG=0.00014, TGTGTGTGTGTGTGTGTGTG=0.00000	0.999717	0.000283	0
African	Sub	2340	TGTGTGTGTGTGTGTG=1.0000	TGTGTGTGTG=0.0000, TGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTG=0.0000	1.0	0.0	N/A
African Others	Sub	94	TGTGTGTGTGTGTGTG=1.00	TGTGTGTGTG=0.00, TGTGTGTGTGTG=0.00, TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	N/A
African American	Sub	2246	TGTGTGTGTGTGTGTG=1.0000	TGTGTGTGTG=0.0000, TGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTG=0.0000, TGTGTGTGTGTGTGTGTGTG=0.0000	1.0	0.0	N/A
Asian	Sub	112	TGTGTGTGTGTGTGTG=1.000	TGTGTGTGTG=0.000, TGTGTGTGTGTG=0.000, TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000	1.0	0.0	N/A
East Asian	Sub	86	TGTGTGTGTGTGTGTG=1.00	TGTGTGTGTG=0.00, TGTGTGTGTGTG=0.00, TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	N/A
Other Asian	Sub	26	TGTGTGTGTGTGTGTG=1.00	TGTGTGTGTG=0.00, TGTGTGTGTGTG=0.00, TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	N/A
Latin American 1	Sub	144	TGTGTGTGTGTGTGTG=1.000	TGTGTGTGTG=0.000, TGTGTGTGTGTG=0.000, TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000	1.0	0.0	N/A
Latin American 2	Sub	600	TGTGTGTGTGTGTGTG=1.000	TGTGTGTGTG=0.000, TGTGTGTGTGTG=0.000, TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000	1.0	0.0	N/A
South Asian	Sub	98	TGTGTGTGTGTGTGTG=1.00	TGTGTGTGTG=0.00, TGTGTGTGTGTG=0.00, TGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00	1.0	0.0	N/A
Other	Sub	486	TGTGTGTGTGTGTGTG=1.000	TGTGTGTGTG=0.000, TGTGTGTGTGTG=0.000, TGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000	1.0	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
14KJPN	JAPANESE	Study-wide	28258	- No frequency provided	dupTG=0.00071
Allele Frequency Aggregator	Total	Global	17912	(TG)₈=0.99989	del(TG)₃=0.00000, delTGTG=0.00000, delTG=0.00000, dupTG=0.00011, dupTGTG=0.00000
Allele Frequency Aggregator	European	Sub	14132	(TG)₈=0.99986	del(TG)₃=0.00000, delTGTG=0.00000, delTG=0.00000, dupTG=0.00014, dupTGTG=0.00000
Allele Frequency Aggregator	African	Sub	2340	(TG)₈=1.0000	del(TG)₃=0.0000, delTGTG=0.0000, delTG=0.0000, dupTG=0.0000, dupTGTG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	600	(TG)₈=1.000	del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000
Allele Frequency Aggregator	Other	Sub	486	(TG)₈=1.000	del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	144	(TG)₈=1.000	del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000
Allele Frequency Aggregator	Asian	Sub	112	(TG)₈=1.000	del(TG)₃=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(TG)₈=1.00	del(TG)₃=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	dupTG=0.00078
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupTG=0.0345
1000Genomes	African	Sub	1322	- No frequency provided	dupTG=0.1218
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupTG=0.0020
1000Genomes	Europe	Sub	1006	- No frequency provided	dupTG=0.0020
1000Genomes	South Asian	Sub	978	- No frequency provided	dupTG=0.003
1000Genomes	American	Sub	694	- No frequency provided	dupTG=0.007
Genetic variation in the Estonian population	Estonian	Study-wide	4480	- No frequency provided	dupTG=0.0007
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	dupTG=0.0022
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupTG=0.002
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupTG=0.002
A Vietnamese Genetic Variation Database	Global	Study-wide	216	- No frequency provided	dupTG=0.005

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.48299571TG[5]
GRCh38.p14 chr 17	NC_000017.11:g.48299571TG[6]
GRCh38.p14 chr 17	NC_000017.11:g.48299571TG[7]
GRCh38.p14 chr 17	NC_000017.11:g.48299571TG[9]
GRCh38.p14 chr 17	NC_000017.11:g.48299571TG[10]
GRCh37.p13 chr 17	NC_000017.10:g.46376933TG[5]
GRCh37.p13 chr 17	NC_000017.10:g.46376933TG[6]
GRCh37.p13 chr 17	NC_000017.10:g.46376933TG[7]
GRCh37.p13 chr 17	NC_000017.10:g.46376933TG[9]
GRCh37.p13 chr 17	NC_000017.10:g.46376933TG[10]

Gene: SKAP1, src kinase associated phosphoprotein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SKAP1 transcript variant 2	NM_001075099.2:c.280+4631… NM_001075099.2:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant 1	NM_003726.4:c.280+46319CA… NM_003726.4:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X6	XM_005257755.5:c.280+4631… XM_005257755.5:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X1	XM_047436972.1:c.280+4631… XM_047436972.1:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X2	XM_047436973.1:c.280+4631… XM_047436973.1:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X3	XM_047436974.1:c.232+4631… XM_047436974.1:c.232+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X4	XM_047436975.1:c.280+4631… XM_047436975.1:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X5	XM_047436976.1:c.226+4631… XM_047436976.1:c.226+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X7	XM_047436977.1:c.280+4631… XM_047436977.1:c.280+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X9	XM_047436980.1:c.-122+463… XM_047436980.1:c.-122+46319CA[5]	N/A	Intron Variant
SKAP1 transcript variant X8	XM_017025258.2:c.	N/A	Genic Upstream Transcript Variant
SKAP1 transcript variant X10	XM_047436978.1:c.	N/A	Genic Upstream Transcript Variant
SKAP1 transcript variant X11	XM_047436979.1:c.	N/A	Genic Upstream Transcript Variant

Gene: SKAP1-AS2, SKAP1 antisense RNA 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SKAP1-AS2 transcript variant 1	NR_131239.1:n.	N/A	Intron Variant
SKAP1-AS2 transcript variant 2	NR_131240.1: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	(TG)₈=	del(TG)₃	delTGTG	delTG	dupTG	dupTGTG
GRCh38.p14 chr 17	NC_000017.11:g.48299571_48299586=	NC_000017.11:g.48299571TG[5]	NC_000017.11:g.48299571TG[6]	NC_000017.11:g.48299571TG[7]	NC_000017.11:g.48299571TG[9]	NC_000017.11:g.48299571TG[10]
GRCh37.p13 chr 17	NC_000017.10:g.46376933_46376948=	NC_000017.10:g.46376933TG[5]	NC_000017.10:g.46376933TG[6]	NC_000017.10:g.46376933TG[7]	NC_000017.10:g.46376933TG[9]	NC_000017.10:g.46376933TG[10]
SKAP1 transcript variant 2	NM_001075099.1:c.280+46334=	NM_001075099.1:c.280+46319CA[5]	NM_001075099.1:c.280+46319CA[6]	NM_001075099.1:c.280+46319CA[7]	NM_001075099.1:c.280+46319CA[9]	NM_001075099.1:c.280+46319CA[10]
SKAP1 transcript variant 2	NM_001075099.2:c.280+46334=	NM_001075099.2:c.280+46319CA[5]	NM_001075099.2:c.280+46319CA[6]	NM_001075099.2:c.280+46319CA[7]	NM_001075099.2:c.280+46319CA[9]	NM_001075099.2:c.280+46319CA[10]
SKAP1 transcript variant 1	NM_003726.3:c.280+46334=	NM_003726.3:c.280+46319CA[5]	NM_003726.3:c.280+46319CA[6]	NM_003726.3:c.280+46319CA[7]	NM_003726.3:c.280+46319CA[9]	NM_003726.3:c.280+46319CA[10]
SKAP1 transcript variant 1	NM_003726.4:c.280+46334=	NM_003726.4:c.280+46319CA[5]	NM_003726.4:c.280+46319CA[6]	NM_003726.4:c.280+46319CA[7]	NM_003726.4:c.280+46319CA[9]	NM_003726.4:c.280+46319CA[10]
SKAP1 transcript variant X1	XM_005257754.1:c.247+46334=	XM_005257754.1:c.247+46319CA[5]	XM_005257754.1:c.247+46319CA[6]	XM_005257754.1:c.247+46319CA[7]	XM_005257754.1:c.247+46319CA[9]	XM_005257754.1:c.247+46319CA[10]
SKAP1 transcript variant X2	XM_005257755.1:c.280+46334=	XM_005257755.1:c.280+46319CA[5]	XM_005257755.1:c.280+46319CA[6]	XM_005257755.1:c.280+46319CA[7]	XM_005257755.1:c.280+46319CA[9]	XM_005257755.1:c.280+46319CA[10]
SKAP1 transcript variant X6	XM_005257755.5:c.280+46334=	XM_005257755.5:c.280+46319CA[5]	XM_005257755.5:c.280+46319CA[6]	XM_005257755.5:c.280+46319CA[7]	XM_005257755.5:c.280+46319CA[9]	XM_005257755.5:c.280+46319CA[10]
SKAP1 transcript variant X3	XM_005257756.1:c.-3+44686=	XM_005257756.1:c.-3+44671CA[5]	XM_005257756.1:c.-3+44671CA[6]	XM_005257756.1:c.-3+44671CA[7]	XM_005257756.1:c.-3+44671CA[9]	XM_005257756.1:c.-3+44671CA[10]
SKAP1 transcript variant X1	XM_047436972.1:c.280+46334=	XM_047436972.1:c.280+46319CA[5]	XM_047436972.1:c.280+46319CA[6]	XM_047436972.1:c.280+46319CA[7]	XM_047436972.1:c.280+46319CA[9]	XM_047436972.1:c.280+46319CA[10]
SKAP1 transcript variant X2	XM_047436973.1:c.280+46334=	XM_047436973.1:c.280+46319CA[5]	XM_047436973.1:c.280+46319CA[6]	XM_047436973.1:c.280+46319CA[7]	XM_047436973.1:c.280+46319CA[9]	XM_047436973.1:c.280+46319CA[10]
SKAP1 transcript variant X3	XM_047436974.1:c.232+46334=	XM_047436974.1:c.232+46319CA[5]	XM_047436974.1:c.232+46319CA[6]	XM_047436974.1:c.232+46319CA[7]	XM_047436974.1:c.232+46319CA[9]	XM_047436974.1:c.232+46319CA[10]
SKAP1 transcript variant X4	XM_047436975.1:c.280+46334=	XM_047436975.1:c.280+46319CA[5]	XM_047436975.1:c.280+46319CA[6]	XM_047436975.1:c.280+46319CA[7]	XM_047436975.1:c.280+46319CA[9]	XM_047436975.1:c.280+46319CA[10]
SKAP1 transcript variant X5	XM_047436976.1:c.226+46334=	XM_047436976.1:c.226+46319CA[5]	XM_047436976.1:c.226+46319CA[6]	XM_047436976.1:c.226+46319CA[7]	XM_047436976.1:c.226+46319CA[9]	XM_047436976.1:c.226+46319CA[10]
SKAP1 transcript variant X7	XM_047436977.1:c.280+46334=	XM_047436977.1:c.280+46319CA[5]	XM_047436977.1:c.280+46319CA[6]	XM_047436977.1:c.280+46319CA[7]	XM_047436977.1:c.280+46319CA[9]	XM_047436977.1:c.280+46319CA[10]
SKAP1 transcript variant X9	XM_047436980.1:c.-122+46334=	XM_047436980.1:c.-122+46319CA[5]	XM_047436980.1:c.-122+46319CA[6]	XM_047436980.1:c.-122+46319CA[7]	XM_047436980.1:c.-122+46319CA[9]	XM_047436980.1:c.-122+46319CA[10]

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#.

35 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40837820	Dec 03, 2013 (142)
2	HUMANGENOME_JCVI	ss95695266	Dec 05, 2013 (142)
3	1000GENOMES	ss327915142	Oct 12, 2018 (152)
4	1000GENOMES	ss328221482	Oct 12, 2018 (152)
5	LUNTER	ss552527590	Oct 12, 2018 (152)
6	LUNTER	ss552879053	Apr 25, 2013 (138)
7	TISHKOFF	ss564862893	Apr 25, 2013 (138)
8	SSMP	ss664360469	Apr 01, 2015 (144)
9	EVA-GONL	ss993144592	Aug 21, 2014 (142)
10	1000GENOMES	ss1376692782	Aug 21, 2014 (142)
11	EVA_UK10K_ALSPAC	ss1708773716	Oct 12, 2018 (152)
12	EVA_UK10K_TWINSUK	ss1708773755	Oct 12, 2018 (152)
13	EVA_UK10K_TWINSUK	ss1710733416	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710733423	Apr 01, 2015 (144)
15	URBANLAB	ss3650663643	Oct 12, 2018 (152)
16	EGCUT_WGS	ss3682475085	Jul 13, 2019 (153)
17	EVA_DECODE	ss3700541670	Jul 13, 2019 (153)
18	ACPOP	ss3742058339	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3819978024	Jul 13, 2019 (153)
20	KOGIC	ss3978912399	Apr 27, 2020 (154)
21	GNOMAD	ss4312290152	Apr 27, 2021 (155)
22	GNOMAD	ss4312290153	Apr 27, 2021 (155)
23	GNOMAD	ss4312290154	Apr 27, 2021 (155)
24	GNOMAD	ss4312290155	Apr 27, 2021 (155)
25	GNOMAD	ss4312290156	Apr 27, 2021 (155)
26	TOPMED	ss5037264461	Apr 27, 2021 (155)
27	TOPMED	ss5037264462	Apr 27, 2021 (155)
28	TOPMED	ss5037264463	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5222607366	Apr 27, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5303267135	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5496300775	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5496300776	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5778879227	Oct 16, 2022 (156)
34	EVA	ss5851820916	Oct 16, 2022 (156)
35	EVA	ss5914076896	Oct 16, 2022 (156)
36	1000Genomes	NC_000017.10 - 46376933	Oct 12, 2018 (152)
37	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39924196 (NC_000017.10:46376932:TG: 66/3854) Row 39924197 (NC_000017.10:46376932::TG 1/3854)	-	Oct 12, 2018 (152)
38	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 39924196 (NC_000017.10:46376932:TG: 66/3854) Row 39924197 (NC_000017.10:46376932::TG 1/3854)	-	Oct 12, 2018 (152)
39	Genetic variation in the Estonian population	NC_000017.10 - 46376933	Oct 12, 2018 (152)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508368983 (NC_000017.11:48299570::TG 4385/139354) Row 508368984 (NC_000017.11:48299570::TGTG 93/139380) Row 508368985 (NC_000017.11:48299570:TG: 4/139354)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508368983 (NC_000017.11:48299570::TG 4385/139354) Row 508368984 (NC_000017.11:48299570::TGTG 93/139380) Row 508368985 (NC_000017.11:48299570:TG: 4/139354)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508368983 (NC_000017.11:48299570::TG 4385/139354) Row 508368984 (NC_000017.11:48299570::TGTG 93/139380) Row 508368985 (NC_000017.11:48299570:TG: 4/139354)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508368983 (NC_000017.11:48299570::TG 4385/139354) Row 508368984 (NC_000017.11:48299570::TGTG 93/139380) Row 508368985 (NC_000017.11:48299570:TG: 4/139354)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508368983 (NC_000017.11:48299570::TG 4385/139354) Row 508368984 (NC_000017.11:48299570::TGTG 93/139380) Row 508368985 (NC_000017.11:48299570:TG: 4/139354)...	-	Apr 27, 2021 (155)
45	Genome of the Netherlands Release 5	NC_000017.10 - 46376933	Apr 27, 2020 (154)
46	Korean Genome Project	NC_000017.11 - 48299571	Apr 27, 2020 (154)
47	Northern Sweden	NC_000017.10 - 46376933	Jul 13, 2019 (153)
48	8.3KJPN	NC_000017.10 - 46376933	Apr 27, 2021 (155)
49	14KJPN	NC_000017.11 - 48299571	Oct 16, 2022 (156)
50	TopMed Submission ignored due to conflicting rows: Row 252810123 (NC_000017.11:48299570::TG 8809/264690) Row 252810124 (NC_000017.11:48299570::TGTG 198/264690) Row 252810125 (NC_000017.11:48299570:TGTG: 1/264690)	-	Apr 27, 2021 (155)
51	TopMed Submission ignored due to conflicting rows: Row 252810123 (NC_000017.11:48299570::TG 8809/264690) Row 252810124 (NC_000017.11:48299570::TGTG 198/264690) Row 252810125 (NC_000017.11:48299570:TGTG: 1/264690)	-	Apr 27, 2021 (155)
52	TopMed Submission ignored due to conflicting rows: Row 252810123 (NC_000017.11:48299570::TG 8809/264690) Row 252810124 (NC_000017.11:48299570::TGTG 198/264690) Row 252810125 (NC_000017.11:48299570:TGTG: 1/264690)	-	Apr 27, 2021 (155)
53	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39924196 (NC_000017.10:46376932:TG: 68/3708) Row 39924197 (NC_000017.10:46376932::TG 3/3708)	-	Oct 12, 2018 (152)
54	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39924196 (NC_000017.10:46376932:TG: 68/3708) Row 39924197 (NC_000017.10:46376932::TG 3/3708)	-	Oct 12, 2018 (152)
55	A Vietnamese Genetic Variation Database	NC_000017.10 - 46376933	Jul 13, 2019 (153)
56	ALFA	NC_000017.11 - 48299571	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)
rs375166414	May 15, 2013 (138)
rs397690345	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4312290156	NC_000017.11:48299570:TGTGTG:	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTG	(self)
11720645307	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTG	(self)
ss4312290155, ss5037264463	NC_000017.11:48299570:TGTG:	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG	(self)
11720645307	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG	(self)
ss327915142, ss552527590	NC_000017.9:43731931:TG:	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	(self)
ss1708773716, ss1708773755	NC_000017.10:46376932:TG:	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	(self)
ss4312290154	NC_000017.11:48299570:TG:	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	(self)
11720645307	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG	(self)
ss328221482, ss552879053	NC_000017.9:43731931::TG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
72046145, 28213333, 17794379, 15343204, 80576673, 8831962, ss664360469, ss993144592, ss1376692782, ss3682475085, ss3742058339, ss5222607366	NC_000017.10:46376932::TG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
ss1710733416, ss1710733423	NC_000017.10:46376934::TG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
ss564862893	NC_000017.10:46376948::TG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
35290400, 112716331, ss3650663643, ss3700541670, ss3819978024, ss3978912399, ss4312290152, ss5037264461, ss5303267135, ss5496300775, ss5778879227, ss5851820916, ss5914076896	NC_000017.11:48299570::TG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
11720645307	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
ss40837820, ss95695266	NT_010783.15:11651100::TG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG	(self)
ss4312290153, ss5037264462, ss5496300776	NC_000017.11:48299570::TGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG	(self)
11720645307	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2382265042	NC_000017.10:46376932::TGTG	NC_000017.11:48299570:TGTGTGTGTGTG… NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG

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

No publications for rs34889554

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

rs34889554