Name: rs78184561
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.

rs78184561

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:128035283-128035299 (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: delCA / dupCA / dupCACA / dup(CA)₃
Variation Type: Indel Insertion and Deletion
Frequency: dupCA=0.2211 (2013/9105, ALFA)
dupCA=0.3450 (1728/5008, 1000G)
dupCA=0.4506 (2018/4478, Estonian) (+ 3 more)
dupCA=0.401 (400/998, GoNL)
dupCA=0.428 (257/600, NorthernSweden)
dupCA=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PTPRE : 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	9105	ACACACACACACACACA=0.7789	ACACACACACACACA=0.0000, ACACACACACACACACACA=0.2211, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000	0.657074	0.099297	0.243629	32
European	Sub	7299	ACACACACACACACACA=0.7249	ACACACACACACACA=0.0000, ACACACACACACACACACA=0.2751, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000	0.573308	0.123596	0.303097	32
African	Sub	1272	ACACACACACACACACA=1.0000	ACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	44	ACACACACACACACACA=1.00	ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1228	ACACACACACACACACA=1.0000	ACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	24	ACACACACACACACACA=1.00	ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	12	ACACACACACACACACA=1.00	ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	ACACACACACACACACA=1.00	ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	48	ACACACACACACACACA=1.00	ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	234	ACACACACACACACACA=1.000	ACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	30	ACACACACACACACACA=1.00	ACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	198	ACACACACACACACACA=0.975	ACACACACACACACA=0.000, ACACACACACACACACACA=0.025, ACACACACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000	0.959596	0.010101	0.030303	8

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	9105	(AC)₈A=0.7789	delCA=0.0000, dupCA=0.2211, dupCACA=0.0000, dup(CA)₃=0.0000
Allele Frequency Aggregator	European	Sub	7299	(AC)₈A=0.7249	delCA=0.0000, dupCA=0.2751, dupCACA=0.0000, dup(CA)₃=0.0000
Allele Frequency Aggregator	African	Sub	1272	(AC)₈A=1.0000	delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	234	(AC)₈A=1.000	delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000
Allele Frequency Aggregator	Other	Sub	198	(AC)₈A=0.975	delCA=0.000, dupCA=0.025, dupCACA=0.000, dup(CA)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	48	(AC)₈A=1.00	delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(AC)₈A=1.00	delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00
Allele Frequency Aggregator	Asian	Sub	24	(AC)₈A=1.00	delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupCA=0.3450
1000Genomes	African	Sub	1322	- No frequency provided	dupCA=0.2897
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupCA=0.4633
1000Genomes	Europe	Sub	1006	- No frequency provided	dupCA=0.3241
1000Genomes	South Asian	Sub	978	- No frequency provided	dupCA=0.329
1000Genomes	American	Sub	694	- No frequency provided	dupCA=0.331
Genetic variation in the Estonian population	Estonian	Study-wide	4478	- No frequency provided	dupCA=0.4506
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupCA=0.401
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupCA=0.428
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupCA=0.47

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 10	NC_000010.11:g.128035284CA[7]
GRCh38.p14 chr 10	NC_000010.11:g.128035284CA[9]
GRCh38.p14 chr 10	NC_000010.11:g.128035284CA[10]
GRCh38.p14 chr 10	NC_000010.11:g.128035284CA[11]
GRCh37.p13 chr 10	NC_000010.10:g.129833548CA[7]
GRCh37.p13 chr 10	NC_000010.10:g.129833548CA[9]
GRCh37.p13 chr 10	NC_000010.10:g.129833548CA[10]
GRCh37.p13 chr 10	NC_000010.10:g.129833548CA[11]
PTPRE RefSeqGene	NG_029511.1:g.133224CA[7]
PTPRE RefSeqGene	NG_029511.1:g.133224CA[9]
PTPRE RefSeqGene	NG_029511.1:g.133224CA[10]
PTPRE RefSeqGene	NG_029511.1:g.133224CA[11]

Gene: PTPRE, protein tyrosine phosphatase receptor type E (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTPRE transcript variant 3	NM_001316676.2:c.27-5592A… NM_001316676.2:c.27-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant 4	NM_001316677.2:c.-7-5592A… NM_001316677.2:c.-7-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant 5	NM_001323354.2:c.-7-5592A… NM_001323354.2:c.-7-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant 6	NM_001323355.2:c.54-5592A… NM_001323355.2:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant 7	NM_001323356.2:c.54-5592A… NM_001323356.2:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant 1	NM_006504.6:c.-7-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant 8	NM_001323357.2:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant 2	NM_130435.5:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X6	XM_005252691.3:c.-7-5592A… XM_005252691.3:c.-7-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X2	XM_011539994.3:c.54-5592A… XM_011539994.3:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X3	XM_011539995.2:c.54-5592A… XM_011539995.2:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X4	XM_011539996.2:c.54-5592A… XM_011539996.2:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X14	XM_011539998.2:c.54-5592A… XM_011539998.2:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X1	XM_017016467.2:c.54-5592A… XM_017016467.2:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X12	XM_017016469.3:c.54-5592A… XM_017016469.3:c.54-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X16	XM_047425576.1:c.93-5592A… XM_047425576.1:c.93-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X5	XM_047425577.1:c.87-5592A… XM_047425577.1:c.87-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X7	XM_047425578.1:c.-7-5592A… XM_047425578.1:c.-7-5592AC[7]	N/A	Intron Variant
PTPRE transcript variant X8	XM_047425579.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X9	XM_047425580.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X10	XM_047425581.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X11	XM_047425582.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X13	XM_047425583.1:c.	N/A	Genic Upstream Transcript Variant
PTPRE transcript variant X15	XM_047425584.1:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(AC)₈A=	delCA	dupCA	dupCACA	dup(CA)₃
GRCh38.p14 chr 10	NC_000010.11:g.128035283_128035299=	NC_000010.11:g.128035284CA[7]	NC_000010.11:g.128035284CA[9]	NC_000010.11:g.128035284CA[10]	NC_000010.11:g.128035284CA[11]
GRCh37.p13 chr 10	NC_000010.10:g.129833547_129833563=	NC_000010.10:g.129833548CA[7]	NC_000010.10:g.129833548CA[9]	NC_000010.10:g.129833548CA[10]	NC_000010.10:g.129833548CA[11]
PTPRE RefSeqGene	NG_029511.1:g.133223_133239=	NG_029511.1:g.133224CA[7]	NG_029511.1:g.133224CA[9]	NG_029511.1:g.133224CA[10]	NG_029511.1:g.133224CA[11]
PTPRE transcript variant 3	NM_001316676.2:c.27-5592=	NM_001316676.2:c.27-5592AC[7]	NM_001316676.2:c.27-5592AC[9]	NM_001316676.2:c.27-5592AC[10]	NM_001316676.2:c.27-5592AC[11]
PTPRE transcript variant 4	NM_001316677.2:c.-7-5592=	NM_001316677.2:c.-7-5592AC[7]	NM_001316677.2:c.-7-5592AC[9]	NM_001316677.2:c.-7-5592AC[10]	NM_001316677.2:c.-7-5592AC[11]
PTPRE transcript variant 5	NM_001323354.2:c.-7-5592=	NM_001323354.2:c.-7-5592AC[7]	NM_001323354.2:c.-7-5592AC[9]	NM_001323354.2:c.-7-5592AC[10]	NM_001323354.2:c.-7-5592AC[11]
PTPRE transcript variant 6	NM_001323355.2:c.54-5592=	NM_001323355.2:c.54-5592AC[7]	NM_001323355.2:c.54-5592AC[9]	NM_001323355.2:c.54-5592AC[10]	NM_001323355.2:c.54-5592AC[11]
PTPRE transcript variant 7	NM_001323356.2:c.54-5592=	NM_001323356.2:c.54-5592AC[7]	NM_001323356.2:c.54-5592AC[9]	NM_001323356.2:c.54-5592AC[10]	NM_001323356.2:c.54-5592AC[11]
PTPRE transcript variant 1	NM_006504.4:c.-7-5592=	NM_006504.4:c.-7-5592AC[7]	NM_006504.4:c.-7-5592AC[9]	NM_006504.4:c.-7-5592AC[10]	NM_006504.4:c.-7-5592AC[11]
PTPRE transcript variant 1	NM_006504.6:c.-7-5592=	NM_006504.6:c.-7-5592AC[7]	NM_006504.6:c.-7-5592AC[9]	NM_006504.6:c.-7-5592AC[10]	NM_006504.6:c.-7-5592AC[11]
PTPRE transcript variant X1	XM_005252688.1:c.54-5592=	XM_005252688.1:c.54-5592AC[7]	XM_005252688.1:c.54-5592AC[9]	XM_005252688.1:c.54-5592AC[10]	XM_005252688.1:c.54-5592AC[11]
PTPRE transcript variant X2	XM_005252689.1:c.54-5592=	XM_005252689.1:c.54-5592AC[7]	XM_005252689.1:c.54-5592AC[9]	XM_005252689.1:c.54-5592AC[10]	XM_005252689.1:c.54-5592AC[11]
PTPRE transcript variant X3	XM_005252690.1:c.-7-5592=	XM_005252690.1:c.-7-5592AC[7]	XM_005252690.1:c.-7-5592AC[9]	XM_005252690.1:c.-7-5592AC[10]	XM_005252690.1:c.-7-5592AC[11]
PTPRE transcript variant X5	XM_005252691.1:c.-7-5592=	XM_005252691.1:c.-7-5592AC[7]	XM_005252691.1:c.-7-5592AC[9]	XM_005252691.1:c.-7-5592AC[10]	XM_005252691.1:c.-7-5592AC[11]
PTPRE transcript variant X6	XM_005252691.3:c.-7-5592=	XM_005252691.3:c.-7-5592AC[7]	XM_005252691.3:c.-7-5592AC[9]	XM_005252691.3:c.-7-5592AC[10]	XM_005252691.3:c.-7-5592AC[11]
PTPRE transcript variant X6	XM_005252692.1:c.-7-5592=	XM_005252692.1:c.-7-5592AC[7]	XM_005252692.1:c.-7-5592AC[9]	XM_005252692.1:c.-7-5592AC[10]	XM_005252692.1:c.-7-5592AC[11]
PTPRE transcript variant X6	XM_005252693.1:c.-7-5592=	XM_005252693.1:c.-7-5592AC[7]	XM_005252693.1:c.-7-5592AC[9]	XM_005252693.1:c.-7-5592AC[10]	XM_005252693.1:c.-7-5592AC[11]
PTPRE transcript variant X2	XM_011539994.3:c.54-5592=	XM_011539994.3:c.54-5592AC[7]	XM_011539994.3:c.54-5592AC[9]	XM_011539994.3:c.54-5592AC[10]	XM_011539994.3:c.54-5592AC[11]
PTPRE transcript variant X3	XM_011539995.2:c.54-5592=	XM_011539995.2:c.54-5592AC[7]	XM_011539995.2:c.54-5592AC[9]	XM_011539995.2:c.54-5592AC[10]	XM_011539995.2:c.54-5592AC[11]
PTPRE transcript variant X4	XM_011539996.2:c.54-5592=	XM_011539996.2:c.54-5592AC[7]	XM_011539996.2:c.54-5592AC[9]	XM_011539996.2:c.54-5592AC[10]	XM_011539996.2:c.54-5592AC[11]
PTPRE transcript variant X14	XM_011539998.2:c.54-5592=	XM_011539998.2:c.54-5592AC[7]	XM_011539998.2:c.54-5592AC[9]	XM_011539998.2:c.54-5592AC[10]	XM_011539998.2:c.54-5592AC[11]
PTPRE transcript variant X1	XM_017016467.2:c.54-5592=	XM_017016467.2:c.54-5592AC[7]	XM_017016467.2:c.54-5592AC[9]	XM_017016467.2:c.54-5592AC[10]	XM_017016467.2:c.54-5592AC[11]
PTPRE transcript variant X12	XM_017016469.3:c.54-5592=	XM_017016469.3:c.54-5592AC[7]	XM_017016469.3:c.54-5592AC[9]	XM_017016469.3:c.54-5592AC[10]	XM_017016469.3:c.54-5592AC[11]
PTPRE transcript variant X16	XM_047425576.1:c.93-5592=	XM_047425576.1:c.93-5592AC[7]	XM_047425576.1:c.93-5592AC[9]	XM_047425576.1:c.93-5592AC[10]	XM_047425576.1:c.93-5592AC[11]
PTPRE transcript variant X5	XM_047425577.1:c.87-5592=	XM_047425577.1:c.87-5592AC[7]	XM_047425577.1:c.87-5592AC[9]	XM_047425577.1:c.87-5592AC[10]	XM_047425577.1:c.87-5592AC[11]
PTPRE transcript variant X7	XM_047425578.1:c.-7-5592=	XM_047425578.1:c.-7-5592AC[7]	XM_047425578.1:c.-7-5592AC[9]	XM_047425578.1:c.-7-5592AC[10]	XM_047425578.1:c.-7-5592AC[11]

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#.

53 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103812569	Dec 06, 2013 (138)
2	GMI	ss289045159	May 04, 2012 (137)
3	1000GENOMES	ss327294508	May 09, 2011 (134)
4	1000GENOMES	ss327378101	May 09, 2011 (134)
5	1000GENOMES	ss327773506	May 09, 2011 (134)
6	1000GENOMES	ss499367788	May 04, 2012 (137)
7	LUNTER	ss552082841	Apr 25, 2013 (138)
8	LUNTER	ss552333529	Apr 25, 2013 (138)
9	LUNTER	ss553432824	Apr 25, 2013 (138)
10	SSMP	ss663962593	Apr 01, 2015 (144)
11	BILGI_BIOE	ss666520489	Apr 25, 2013 (138)
12	EVA-GONL	ss988057392	Aug 21, 2014 (142)
13	1000GENOMES	ss1370287868	Aug 21, 2014 (142)
14	DDI	ss1536673950	Apr 01, 2015 (144)
15	EVA_GENOME_DK	ss1574276827	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1706949118	Jan 10, 2018 (151)
17	EVA_UK10K_TWINSUK	ss1706949160	Jan 10, 2018 (151)
18	EVA_UK10K_TWINSUK	ss1710494681	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1710494686	Apr 01, 2015 (144)
20	JJLAB	ss2031051279	Sep 14, 2016 (149)
21	SWEGEN	ss3007355109	Nov 08, 2017 (151)
22	MCHAISSO	ss3063674840	Nov 08, 2017 (151)
23	EGCUT_WGS	ss3674775409	Jul 13, 2019 (153)
24	EVA_DECODE	ss3690938446	Jul 13, 2019 (153)
25	EVA_DECODE	ss3690938449	Jul 13, 2019 (153)
26	ACPOP	ss3737791594	Jul 13, 2019 (153)
27	PACBIO	ss3786824133	Jul 13, 2019 (153)
28	PACBIO	ss3791981308	Jul 13, 2019 (153)
29	PACBIO	ss3796863476	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3814122296	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3814122297	Jul 13, 2019 (153)
32	EVA	ss3832400758	Apr 26, 2020 (154)
33	EVA	ss3839742373	Apr 26, 2020 (154)
34	EVA	ss3845217899	Apr 26, 2020 (154)
35	KOGIC	ss3968931363	Apr 26, 2020 (154)
36	KOGIC	ss3968931365	Apr 26, 2020 (154)
37	GNOMAD	ss4227836923	Apr 26, 2021 (155)
38	GNOMAD	ss4227836924	Apr 26, 2021 (155)
39	GNOMAD	ss4227836926	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5200044257	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5200044259	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5285915292	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5481294372	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5481294373	Oct 16, 2022 (156)
45	SANFORD_IMAGENETICS	ss5650352655	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5746590603	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5746590604	Oct 16, 2022 (156)
48	YY_MCH	ss5811999713	Oct 16, 2022 (156)
49	EVA	ss5825135878	Oct 16, 2022 (156)
50	EVA	ss5825135879	Oct 16, 2022 (156)
51	EVA	ss5849799496	Oct 16, 2022 (156)
52	EVA	ss5941664286	Oct 16, 2022 (156)
53	EVA	ss5980648242	Oct 16, 2022 (156)
54	1000Genomes	NC_000010.10 - 129833547	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 28912656 (NC_000010.10:129833546::AC 1561/3854) Row 28912657 (NC_000010.10:129833546:AC: 21/3854)	-	Oct 12, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 28912656 (NC_000010.10:129833546::AC 1561/3854) Row 28912657 (NC_000010.10:129833546:AC: 21/3854)	-	Oct 12, 2018 (152)
57	Genetic variation in the Estonian population	NC_000010.10 - 129833547	Oct 12, 2018 (152)
58	The Danish reference pan genome	NC_000010.10 - 129833547	Apr 26, 2020 (154)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367582473 (NC_000010.11:128035282::AC 52297/139312) Row 367582474 (NC_000010.11:128035282::ACAC 44/139382) Row 367582476 (NC_000010.11:128035282:AC: 2/139374)	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367582473 (NC_000010.11:128035282::AC 52297/139312) Row 367582474 (NC_000010.11:128035282::ACAC 44/139382) Row 367582476 (NC_000010.11:128035282:AC: 2/139374)	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 367582473 (NC_000010.11:128035282::AC 52297/139312) Row 367582474 (NC_000010.11:128035282::ACAC 44/139382) Row 367582476 (NC_000010.11:128035282:AC: 2/139374)	-	Apr 26, 2021 (155)
62	Genome of the Netherlands Release 5	NC_000010.10 - 129833547	Apr 26, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 25309364 (NC_000010.11:128035282::AC 1018/1832) Row 25309366 (NC_000010.11:128035282::ACAC 3/1832)	-	Apr 26, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 25309364 (NC_000010.11:128035282::AC 1018/1832) Row 25309366 (NC_000010.11:128035282::ACAC 3/1832)	-	Apr 26, 2020 (154)
65	Northern Sweden	NC_000010.10 - 129833547	Jul 13, 2019 (153)
66	8.3KJPN Submission ignored due to conflicting rows: Row 58013564 (NC_000010.10:129833546::AC 9658/16760) Row 58013566 (NC_000010.10:129833546::ACAC 53/16760)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 58013564 (NC_000010.10:129833546::AC 9658/16760) Row 58013566 (NC_000010.10:129833546::ACAC 53/16760)	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 80427707 (NC_000010.11:128035282::AC 16339/28258) Row 80427708 (NC_000010.11:128035282::ACAC 99/28258)	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 80427707 (NC_000010.11:128035282::AC 16339/28258) Row 80427708 (NC_000010.11:128035282::ACAC 99/28258)	-	Oct 16, 2022 (156)
70	UK 10K study - Twins Submission ignored due to conflicting rows: Row 28912656 (NC_000010.10:129833546::AC 1509/3708) Row 28912657 (NC_000010.10:129833546:AC: 17/3708)	-	Oct 12, 2018 (152)
71	UK 10K study - Twins Submission ignored due to conflicting rows: Row 28912656 (NC_000010.10:129833546::AC 1509/3708) Row 28912657 (NC_000010.10:129833546:AC: 17/3708)	-	Oct 12, 2018 (152)
72	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 6417130 (NC_000010.10:129833546::AC 95/214) Row 6417131 (NC_000010.10:129833546::ACAC 2/121)	-	Jul 13, 2019 (153)
73	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 6417130 (NC_000010.10:129833546::AC 95/214) Row 6417131 (NC_000010.10:129833546::ACAC 2/121)	-	Jul 13, 2019 (153)
74	ALFA	NC_000010.11 - 128035283	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)
rs147519026	May 15, 2013 (138)
rs796814723	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1706949118, ss1706949160, ss5825135879	NC_000010.10:129833546:AC:	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACA	(self)
ss3690938449, ss4227836926	NC_000010.11:128035282:AC:	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACA	(self)
10167413319	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACA	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACA	(self)
ss327294508, ss327378101, ss327773506, ss552082841, ss552333529, ss553432824	NC_000010.9:129723536::AC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
ss289045159	NC_000010.9:129723553::CA	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
52037278, 20513657, 272164, 12885800, 11076459, ss499367788, ss663962593, ss666520489, ss988057392, ss1370287868, ss1536673950, ss1574276827, ss2031051279, ss3007355109, ss3674775409, ss3737791594, ss3786824133, ss3791981308, ss3796863476, ss3832400758, ss3839742373, ss5200044257, ss5650352655, ss5825135878, ss5941664286, ss5980648242	NC_000010.10:129833546::AC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
ss1710494681, ss1710494686	NC_000010.10:129833548::AC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
ss3063674840, ss3814122296, ss3845217899, ss3968931363, ss4227836923, ss5285915292, ss5481294372, ss5746590603, ss5811999713, ss5849799496	NC_000010.11:128035282::AC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
10167413319	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
ss3690938446	NC_000010.11:128035284::AC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
ss103812569	NT_008818.16:1067494::CA	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACA	(self)
ss5200044259	NC_000010.10:129833546::ACAC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACA	(self)
ss3814122297, ss3968931365, ss4227836924, ss5481294373, ss5746590604	NC_000010.11:128035282::ACAC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACA	(self)
10167413319	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACA	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACA	(self)
10167413319	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACACA	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACACA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3133661640	NC_000010.11:128035282::ACACAC	NC_000010.11:128035282:ACACACACACA… NC_000010.11:128035282:ACACACACACACACACA:ACACACACACACACACACACACA

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

No publications for rs78184561

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs78184561