Name: rs59318611
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.

rs59318611

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:188499399-188499416 (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)₉ / del(A)₆ / del(A)₄ / delA…
del(A)₉ / del(A)₆ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.4862 (2435/5008, 1000G)
del(A)₉=0.000 (0/200, ALFA)
del(A)₆=0.000 (0/200, ALFA) (+ 5 more)
delAA=0.000 (0/200, ALFA)
delA=0.000 (0/200, ALFA)
dupA=0.000 (0/200, ALFA)
dupAA=0.000 (0/200, ALFA)
dupAAA=0.000 (0/200, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC01060 : 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	200	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	106	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	66	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	62	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	12	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.5138
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.4259
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.5526
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.5944
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.508
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.516
Allele Frequency Aggregator	Total	Global	200	(A)₁₈=1.000	del(A)₉=0.000, del(A)₆=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	European	Sub	106	(A)₁₈=1.000	del(A)₉=0.000, del(A)₆=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	66	(A)₁₈=1.00	del(A)₉=0.00, del(A)₆=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	12	(A)₁₈=1.00	del(A)₉=0.00, del(A)₆=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(A)₁₈=1.0	del(A)₉=0.0, del(A)₆=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 2	Sub	4	(A)₁₈=1.0	del(A)₉=0.0, del(A)₆=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₁₈=1.0	del(A)₉=0.0, del(A)₆=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₈=0	del(A)₉=0, del(A)₆=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0

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 4	NC_000004.12:g.188499408_188499416del
GRCh38.p14 chr 4	NC_000004.12:g.188499411_188499416del
GRCh38.p14 chr 4	NC_000004.12:g.188499413_188499416del
GRCh38.p14 chr 4	NC_000004.12:g.188499414_188499416del
GRCh38.p14 chr 4	NC_000004.12:g.188499415_188499416del
GRCh38.p14 chr 4	NC_000004.12:g.188499416del
GRCh38.p14 chr 4	NC_000004.12:g.188499416dup
GRCh38.p14 chr 4	NC_000004.12:g.188499415_188499416dup
GRCh38.p14 chr 4	NC_000004.12:g.188499414_188499416dup
GRCh38.p14 chr 4	NC_000004.12:g.188499413_188499416dup
GRCh38.p14 chr 4	NC_000004.12:g.188499410_188499416dup
GRCh37.p13 chr 4	NC_000004.11:g.189420562_189420570del
GRCh37.p13 chr 4	NC_000004.11:g.189420565_189420570del
GRCh37.p13 chr 4	NC_000004.11:g.189420567_189420570del
GRCh37.p13 chr 4	NC_000004.11:g.189420568_189420570del
GRCh37.p13 chr 4	NC_000004.11:g.189420569_189420570del
GRCh37.p13 chr 4	NC_000004.11:g.189420570del
GRCh37.p13 chr 4	NC_000004.11:g.189420570dup
GRCh37.p13 chr 4	NC_000004.11:g.189420569_189420570dup
GRCh37.p13 chr 4	NC_000004.11:g.189420568_189420570dup
GRCh37.p13 chr 4	NC_000004.11:g.189420567_189420570dup
GRCh37.p13 chr 4	NC_000004.11:g.189420564_189420570dup
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157933_157941del
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157936_157941del
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157938_157941del
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157939_157941del
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157940_157941del
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157941del
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157941dup
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157940_157941dup
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157939_157941dup
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157938_157941dup
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157935_157941dup

Gene: LINC01060, long intergenic non-protein coding RNA 1060 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01060 transcript	NR_033869.1: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	(A)₁₈=	del(A)₉	del(A)₆	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₇
GRCh38.p14 chr 4	NC_000004.12:g.188499399_188499416=	NC_000004.12:g.188499408_188499416del	NC_000004.12:g.188499411_188499416del	NC_000004.12:g.188499413_188499416del	NC_000004.12:g.188499414_188499416del	NC_000004.12:g.188499415_188499416del	NC_000004.12:g.188499416del	NC_000004.12:g.188499416dup	NC_000004.12:g.188499415_188499416dup	NC_000004.12:g.188499414_188499416dup	NC_000004.12:g.188499413_188499416dup	NC_000004.12:g.188499410_188499416dup
GRCh37.p13 chr 4	NC_000004.11:g.189420553_189420570=	NC_000004.11:g.189420562_189420570del	NC_000004.11:g.189420565_189420570del	NC_000004.11:g.189420567_189420570del	NC_000004.11:g.189420568_189420570del	NC_000004.11:g.189420569_189420570del	NC_000004.11:g.189420570del	NC_000004.11:g.189420570dup	NC_000004.11:g.189420569_189420570dup	NC_000004.11:g.189420568_189420570dup	NC_000004.11:g.189420567_189420570dup	NC_000004.11:g.189420564_189420570dup
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.157924_157941=	NT_187545.1:g.157933_157941del	NT_187545.1:g.157936_157941del	NT_187545.1:g.157938_157941del	NT_187545.1:g.157939_157941del	NT_187545.1:g.157940_157941del	NT_187545.1:g.157941del	NT_187545.1:g.157941dup	NT_187545.1:g.157940_157941dup	NT_187545.1:g.157939_157941dup	NT_187545.1:g.157938_157941dup	NT_187545.1:g.157935_157941dup

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#.

55 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42165185	Dec 03, 2013 (144)
2	HGSV	ss80164180	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95382940	Dec 05, 2013 (144)
4	HUMANGENOME_JCVI	ss98923268	Feb 13, 2009 (130)
5	PJP	ss295207805	Jan 10, 2018 (151)
6	BILGI_BIOE	ss666294751	Apr 25, 2013 (138)
7	1000GENOMES	ss1373294811	Aug 21, 2014 (142)
8	EVA_UK10K_ALSPAC	ss1704523279	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1704523280	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1704523282	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1704526125	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1704526127	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1704526130	Apr 01, 2015 (144)
14	MCHAISSO	ss3064141296	Nov 08, 2017 (151)
15	MCHAISSO	ss3065010976	Nov 08, 2017 (151)
16	URBANLAB	ss3647956203	Oct 12, 2018 (152)
17	EVA_DECODE	ss3713902602	Jul 13, 2019 (153)
18	EVA_DECODE	ss3713902603	Jul 13, 2019 (153)
19	EVA_DECODE	ss3713902604	Jul 13, 2019 (153)
20	EVA_DECODE	ss3713902605	Jul 13, 2019 (153)
21	EVA_DECODE	ss3713902606	Jul 13, 2019 (153)
22	PACBIO	ss3784989393	Jul 13, 2019 (153)
23	PACBIO	ss3790409934	Jul 13, 2019 (153)
24	PACBIO	ss3795285991	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3806103500	Jul 13, 2019 (153)
26	EVA	ss3829037955	Apr 26, 2020 (154)
27	VINODS	ss4023180171	Apr 26, 2021 (155)
28	GNOMAD	ss4097658640	Apr 26, 2021 (155)
29	GNOMAD	ss4097658641	Apr 26, 2021 (155)
30	GNOMAD	ss4097658642	Apr 26, 2021 (155)
31	GNOMAD	ss4097658643	Apr 26, 2021 (155)
32	GNOMAD	ss4097658644	Apr 26, 2021 (155)
33	GNOMAD	ss4097658645	Apr 26, 2021 (155)
34	GNOMAD	ss4097658646	Apr 26, 2021 (155)
35	GNOMAD	ss4097658647	Apr 26, 2021 (155)
36	GNOMAD	ss4097658648	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5169907154	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5169907155	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5169907156	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5169907157	Apr 26, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5262513219	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5262513220	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5262513221	Oct 13, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5262513222	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5460911650	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5460911651	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5460911652	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5705424093	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5705424094	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5705424096	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5705424097	Oct 13, 2022 (156)
52	EVA	ss5845311148	Oct 13, 2022 (156)
53	EVA	ss5845311149	Oct 13, 2022 (156)
54	EVA	ss5845311150	Oct 13, 2022 (156)
55	EVA	ss5854634262	Oct 13, 2022 (156)
56	1000Genomes	NC_000004.11 - 189420553	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 13939522 (NC_000004.11:189420552::A 3102/3854) Row 13939523 (NC_000004.11:189420552::AA 595/3854) Row 13939524 (NC_000004.11:189420552::AAA 118/3854)	-	Oct 12, 2018 (152)
58	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 13939522 (NC_000004.11:189420552::A 3102/3854) Row 13939523 (NC_000004.11:189420552::AA 595/3854) Row 13939524 (NC_000004.11:189420552::AAA 118/3854)	-	Oct 12, 2018 (152)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 13939522 (NC_000004.11:189420552::A 3102/3854) Row 13939523 (NC_000004.11:189420552::AA 595/3854) Row 13939524 (NC_000004.11:189420552::AAA 118/3854)	-	Oct 12, 2018 (152)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 177139839 (NC_000004.12:188499398::A 92245/111346) Row 177139840 (NC_000004.12:188499398::AA 4577/110986) Row 177139841 (NC_000004.12:188499398::AAA 61/111276)...	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 27876461 (NC_000004.11:189420552::AA 346/16360) Row 27876462 (NC_000004.11:189420552::A 11364/16360) Row 27876463 (NC_000004.11:189420552:A: 17/16360)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 27876461 (NC_000004.11:189420552::AA 346/16360) Row 27876462 (NC_000004.11:189420552::A 11364/16360) Row 27876463 (NC_000004.11:189420552:A: 17/16360)...	-	Apr 26, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 27876461 (NC_000004.11:189420552::AA 346/16360) Row 27876462 (NC_000004.11:189420552::A 11364/16360) Row 27876463 (NC_000004.11:189420552:A: 17/16360)...	-	Apr 26, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 27876461 (NC_000004.11:189420552::AA 346/16360) Row 27876462 (NC_000004.11:189420552::A 11364/16360) Row 27876463 (NC_000004.11:189420552:A: 17/16360)...	-	Apr 26, 2021 (155)
73	14KJPN Submission ignored due to conflicting rows: Row 39261197 (NC_000004.12:188499398::A 19973/28254) Row 39261198 (NC_000004.12:188499398::AA 664/28254) Row 39261200 (NC_000004.12:188499398:A: 30/28254)...	-	Oct 13, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 39261197 (NC_000004.12:188499398::A 19973/28254) Row 39261198 (NC_000004.12:188499398::AA 664/28254) Row 39261200 (NC_000004.12:188499398:A: 30/28254)...	-	Oct 13, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 39261197 (NC_000004.12:188499398::A 19973/28254) Row 39261198 (NC_000004.12:188499398::AA 664/28254) Row 39261200 (NC_000004.12:188499398:A: 30/28254)...	-	Oct 13, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 39261197 (NC_000004.12:188499398::A 19973/28254) Row 39261198 (NC_000004.12:188499398::AA 664/28254) Row 39261200 (NC_000004.12:188499398:A: 30/28254)...	-	Oct 13, 2022 (156)
77	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13939522 (NC_000004.11:189420552::A 2979/3708) Row 13939523 (NC_000004.11:189420552::AA 573/3708) Row 13939524 (NC_000004.11:189420552::AAA 119/3708)	-	Oct 12, 2018 (152)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13939522 (NC_000004.11:189420552::A 2979/3708) Row 13939523 (NC_000004.11:189420552::AA 573/3708) Row 13939524 (NC_000004.11:189420552::AAA 119/3708)	-	Oct 12, 2018 (152)
79	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13939522 (NC_000004.11:189420552::A 2979/3708) Row 13939523 (NC_000004.11:189420552::AA 573/3708) Row 13939524 (NC_000004.11:189420552::AAA 119/3708)	-	Oct 12, 2018 (152)
80	ALFA	NC_000004.12 - 188499399	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)
rs35484739	May 11, 2012 (137)
rs397708980	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4097658648	NC_000004.12:188499398:AAAAAAAAA:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4097658647, ss5262513222	NC_000004.12:188499398:AAAAAA:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3713902606	NC_000004.12:188499398:AAAA:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4097658646	NC_000004.12:188499398:AAA:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4097658645	NC_000004.12:188499398:AA:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss80164180	NC_000004.9:189795718:A:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5169907156	NC_000004.11:189420552:A:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4097658644, ss5262513220, ss5460911652, ss5705424096	NC_000004.12:188499398:A:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3713902605	NC_000004.12:188499401:A:	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295207805	NC_000004.10:189657564::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
25045670, ss666294751, ss1373294811, ss1704523279, ss1704526125, ss3784989393, ss3790409934, ss3795285991, ss3829037955, ss5169907155, ss5845311148	NC_000004.11:189420552::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3064141296, ss3065010976, ss3647956203, ss3806103500, ss4097658640, ss5460911650, ss5705424093, ss5854634262	NC_000004.12:188499398::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3713902604	NC_000004.12:188499402::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss98923268	NT_016354.19:113968273::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss42165185, ss95382940	NT_016354.19:113968291::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4023180171	NT_187545.1:157923::A	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss1704523280, ss1704526127, ss5169907154, ss5845311149	NC_000004.11:189420552::AA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4097658641, ss5262513219, ss5460911651, ss5705424094	NC_000004.12:188499398::AA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3713902603	NC_000004.12:188499402::AA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1704523282, ss1704526130, ss5169907157, ss5845311150	NC_000004.11:189420552::AAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4097658642, ss5262513221, ss5705424097	NC_000004.12:188499398::AAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
54834328	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4097658643	NC_000004.12:188499398::AAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3713902602	NC_000004.12:188499402::AAAAAAA	NC_000004.12:188499398:AAAAAAAAAAA… NC_000004.12:188499398:AAAAAAAAAAAAAAAAAA: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 rs59318611

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

rs59318611