Name: rs140041123
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.

rs140041123

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:221335333-221335352 (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(GT)₅ / del(GT)₄ / del(GT)₃ / d…
del(GT)₅ / del(GT)₄ / del(GT)₃ / delGTGT / delGT / dupGT / dupGTGT / dup(GT)₃ / dup(GT)₄ / dup(GT)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupGT=0.13961 (1505/10780, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC02817 : Intron Variant
LOC105372932 : 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	10780	GTGTGTGTGTGTGTGTGTGT=0.73571	GTGTGTGTGT=0.00000, GTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGT=0.00000, GTGTGTGTGTGTGTGTGT=0.00028, GTGTGTGTGTGTGTGTGTGTGT=0.13961, GTGTGTGTGTGTGTGTGTGTGTGT=0.12421, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00019	0.814057	0.06582	0.120122	32
European	Sub	9108	GTGTGTGTGTGTGTGTGTGT=0.6872	GTGTGTGTGT=0.0000, GTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGT=0.0003, GTGTGTGTGTGTGTGTGTGTGT=0.1652, GTGTGTGTGTGTGTGTGTGTGTGT=0.1470, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0002	0.768578	0.081919	0.149503	32
African	Sub	1014	GTGTGTGTGTGTGTGTGTGT=1.0000	GTGTGTGTGT=0.0000, GTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	42	GTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGT=0.00, GTGTGTGTGTGT=0.00, GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
African American	Sub	972	GTGTGTGTGTGTGTGTGTGT=1.000	GTGTGTGTGT=0.000, GTGTGTGTGTGT=0.000, GTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	70	GTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGT=0.00, GTGTGTGTGTGT=0.00, GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	50	GTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGT=0.00, GTGTGTGTGTGT=0.00, GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	GTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGT=0.00, GTGTGTGTGTGT=0.00, GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	44	GTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGT=0.00, GTGTGTGTGTGT=0.00, GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	276	GTGTGTGTGTGTGTGTGTGT=1.000	GTGTGTGTGT=0.000, GTGTGTGTGTGT=0.000, GTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	52	GTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGT=0.00, GTGTGTGTGTGT=0.00, GTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other	Sub	216	GTGTGTGTGTGTGTGTGTGT=1.000	GTGTGTGTGT=0.000, GTGTGTGTGTGT=0.000, GTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGT=0.000, GTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	10780	(GT)₁₀=0.73571	del(GT)₅=0.00000, del(GT)₄=0.00000, del(GT)₃=0.00000, delGTGT=0.00000, delGT=0.00028, dupGT=0.13961, dupGTGT=0.12421, dup(GT)₃=0.00019
Allele Frequency Aggregator	European	Sub	9108	(GT)₁₀=0.6872	del(GT)₅=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0003, dupGT=0.1652, dupGTGT=0.1470, dup(GT)₃=0.0002
Allele Frequency Aggregator	African	Sub	1014	(GT)₁₀=1.0000	del(GT)₅=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0000, dupGTGT=0.0000, dup(GT)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	276	(GT)₁₀=1.000	del(GT)₅=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000
Allele Frequency Aggregator	Other	Sub	216	(GT)₁₀=1.000	del(GT)₅=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000
Allele Frequency Aggregator	Asian	Sub	70	(GT)₁₀=1.00	del(GT)₅=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00
Allele Frequency Aggregator	South Asian	Sub	52	(GT)₁₀=1.00	del(GT)₅=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00
Allele Frequency Aggregator	Latin American 1	Sub	44	(GT)₁₀=1.00	del(GT)₅=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00

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 1	NC_000001.11:g.221335333GT[5]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[6]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[7]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[8]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[9]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[11]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[12]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[13]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[14]
GRCh38.p14 chr 1	NC_000001.11:g.221335333GT[15]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[5]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[6]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[7]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[8]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[9]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[11]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[12]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[13]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[14]
GRCh37.p13 chr 1	NC_000001.10:g.221508675GT[15]
LOC126806019 genomic region	NG_082343.1:g.8GT[5]
LOC126806019 genomic region	NG_082343.1:g.8GT[6]
LOC126806019 genomic region	NG_082343.1:g.8GT[7]
LOC126806019 genomic region	NG_082343.1:g.8GT[8]
LOC126806019 genomic region	NG_082343.1:g.8GT[9]
LOC126806019 genomic region	NG_082343.1:g.8GT[11]
LOC126806019 genomic region	NG_082343.1:g.8GT[12]
LOC126806019 genomic region	NG_082343.1:g.8GT[13]
LOC126806019 genomic region	NG_082343.1:g.8GT[14]
LOC126806019 genomic region	NG_082343.1:g.8GT[15]

Gene: LINC02817, long intergenic non-protein coding RNA 2817 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC02817 transcript	NR_024236.1:n.	N/A	Intron Variant

Gene: LOC105372932, uncharacterized LOC105372932 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105372932 transcript	XR_922621.2: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	(GT)₁₀=	del(GT)₅	del(GT)₄	del(GT)₃	delGTGT	delGT	dupGT	dupGTGT	dup(GT)₃	dup(GT)₄	dup(GT)₅
GRCh38.p14 chr 1	NC_000001.11:g.221335333_221335352=	NC_000001.11:g.221335333GT[5]	NC_000001.11:g.221335333GT[6]	NC_000001.11:g.221335333GT[7]	NC_000001.11:g.221335333GT[8]	NC_000001.11:g.221335333GT[9]	NC_000001.11:g.221335333GT[11]	NC_000001.11:g.221335333GT[12]	NC_000001.11:g.221335333GT[13]	NC_000001.11:g.221335333GT[14]	NC_000001.11:g.221335333GT[15]
GRCh37.p13 chr 1	NC_000001.10:g.221508675_221508694=	NC_000001.10:g.221508675GT[5]	NC_000001.10:g.221508675GT[6]	NC_000001.10:g.221508675GT[7]	NC_000001.10:g.221508675GT[8]	NC_000001.10:g.221508675GT[9]	NC_000001.10:g.221508675GT[11]	NC_000001.10:g.221508675GT[12]	NC_000001.10:g.221508675GT[13]	NC_000001.10:g.221508675GT[14]	NC_000001.10:g.221508675GT[15]
LOC126806019 genomic region	NG_082343.1:g.8_27=	NG_082343.1:g.8GT[5]	NG_082343.1:g.8GT[6]	NG_082343.1:g.8GT[7]	NG_082343.1:g.8GT[8]	NG_082343.1:g.8GT[9]	NG_082343.1:g.8GT[11]	NG_082343.1:g.8GT[12]	NG_082343.1:g.8GT[13]	NG_082343.1:g.8GT[14]	NG_082343.1:g.8GT[15]

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#.

63 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288095770	May 04, 2012 (138)
2	1000GENOMES	ss326142277	May 09, 2011 (134)
3	1000GENOMES	ss326186419	May 09, 2011 (134)
4	LUNTER	ss551024097	Apr 25, 2013 (138)
5	LUNTER	ss552846201	Apr 25, 2013 (138)
6	SSMP	ss663159931	Apr 01, 2015 (144)
7	DDI	ss1536266158	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1701822810	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1701822814	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1701822895	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1701822899	Apr 01, 2015 (144)
12	SWEGEN	ss2988501875	Nov 08, 2017 (151)
13	SWEGEN	ss2988501876	Nov 08, 2017 (151)
14	SWEGEN	ss2988501877	Nov 08, 2017 (151)
15	MCHAISSO	ss3063627443	Nov 08, 2017 (151)
16	MCHAISSO	ss3064445336	Nov 08, 2017 (151)
17	MCHAISSO	ss3065351472	Nov 08, 2017 (151)
18	EVA_DECODE	ss3688690718	Jul 12, 2019 (153)
19	EVA_DECODE	ss3688690719	Jul 12, 2019 (153)
20	EVA_DECODE	ss3688690720	Jul 12, 2019 (153)
21	EVA_DECODE	ss3688690721	Jul 12, 2019 (153)
22	EVA_DECODE	ss3688690722	Jul 12, 2019 (153)
23	EVA_DECODE	ss3688690723	Jul 12, 2019 (153)
24	ACPOP	ss3727890511	Jul 12, 2019 (153)
25	ACPOP	ss3727890512	Jul 12, 2019 (153)
26	PACBIO	ss3783695752	Jul 12, 2019 (153)
27	PACBIO	ss3789306616	Jul 12, 2019 (153)
28	PACBIO	ss3794178963	Jul 12, 2019 (153)
29	EVA	ss3826660520	Apr 25, 2020 (154)
30	EVA	ss3836730905	Apr 25, 2020 (154)
31	EVA	ss3842142916	Apr 25, 2020 (154)
32	KOGIC	ss3946553114	Apr 25, 2020 (154)
33	KOGIC	ss3946553115	Apr 25, 2020 (154)
34	KOGIC	ss3946553116	Apr 25, 2020 (154)
35	KOGIC	ss3946553117	Apr 25, 2020 (154)
36	GNOMAD	ss4011847514	Apr 25, 2021 (155)
37	GNOMAD	ss4011847515	Apr 25, 2021 (155)
38	GNOMAD	ss4011847516	Apr 25, 2021 (155)
39	GNOMAD	ss4011847517	Apr 25, 2021 (155)
40	GNOMAD	ss4011847518	Apr 25, 2021 (155)
41	GNOMAD	ss4011847520	Apr 25, 2021 (155)
42	GNOMAD	ss4011847521	Apr 25, 2021 (155)
43	GNOMAD	ss4011847522	Apr 25, 2021 (155)
44	GNOMAD	ss4011847523	Apr 25, 2021 (155)
45	GNOMAD	ss4011847524	Apr 25, 2021 (155)
46	TOPMED	ss4484692317	Apr 25, 2021 (155)
47	TOPMED	ss4484692318	Apr 25, 2021 (155)
48	TOMMO_GENOMICS	ss5148570614	Apr 25, 2021 (155)
49	TOMMO_GENOMICS	ss5148570615	Apr 25, 2021 (155)
50	TOMMO_GENOMICS	ss5148570616	Apr 25, 2021 (155)
51	TOMMO_GENOMICS	ss5148570617	Apr 25, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5245904840	Oct 12, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5245904841	Oct 12, 2022 (156)
54	HUGCELL_USP	ss5446333652	Oct 12, 2022 (156)
55	HUGCELL_USP	ss5446333653	Oct 12, 2022 (156)
56	TOMMO_GENOMICS	ss5676370037	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5676370038	Oct 12, 2022 (156)
58	TOMMO_GENOMICS	ss5676370039	Oct 12, 2022 (156)
59	TOMMO_GENOMICS	ss5676370040	Oct 12, 2022 (156)
60	TOMMO_GENOMICS	ss5676370041	Oct 12, 2022 (156)
61	TOMMO_GENOMICS	ss5676370042	Oct 12, 2022 (156)
62	EVA	ss5833305528	Oct 12, 2022 (156)
63	EVA	ss5833305529	Oct 12, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3113999 (NC_000001.10:221508674::GT 1564/3854) Row 3114000 (NC_000001.10:221508674::GTGT 746/3854)	-	Oct 11, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 3113999 (NC_000001.10:221508674::GT 1564/3854) Row 3114000 (NC_000001.10:221508674::GTGT 746/3854)	-	Oct 11, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 40486867 (NC_000001.11:221335332::GT 51276/138256) Row 40486868 (NC_000001.11:221335332::GTGT 31084/138248) Row 40486869 (NC_000001.11:221335332::GTGTGT 108/138402)...	-	Apr 25, 2021 (155)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 2931115 (NC_000001.11:221335334::GT 455/1832) Row 2931116 (NC_000001.11:221335334::GTGT 402/1832) Row 2931117 (NC_000001.11:221335332:GT: 10/1832)...	-	Apr 25, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 2931115 (NC_000001.11:221335334::GT 455/1832) Row 2931116 (NC_000001.11:221335334::GTGT 402/1832) Row 2931117 (NC_000001.11:221335332:GT: 10/1832)...	-	Apr 25, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 2931115 (NC_000001.11:221335334::GT 455/1832) Row 2931116 (NC_000001.11:221335334::GTGT 402/1832) Row 2931117 (NC_000001.11:221335332:GT: 10/1832)...	-	Apr 25, 2020 (154)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 2931115 (NC_000001.11:221335334::GT 455/1832) Row 2931116 (NC_000001.11:221335334::GTGT 402/1832) Row 2931117 (NC_000001.11:221335332:GT: 10/1832)...	-	Apr 25, 2020 (154)
80	Northern Sweden Submission ignored due to conflicting rows: Row 1175376 (NC_000001.10:221508674::GT 190/600) Row 1175377 (NC_000001.10:221508674::GTGT 145/600)	-	Jul 12, 2019 (153)
81	Northern Sweden Submission ignored due to conflicting rows: Row 1175376 (NC_000001.10:221508674::GT 190/600) Row 1175377 (NC_000001.10:221508674::GTGT 145/600)	-	Jul 12, 2019 (153)
82	8.3KJPN Submission ignored due to conflicting rows: Row 6539921 (NC_000001.10:221508674::GT 3629/16760) Row 6539922 (NC_000001.10:221508674::GTGT 3413/16760) Row 6539923 (NC_000001.10:221508674::GTGTGT 5/16760)...	-	Apr 25, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 6539921 (NC_000001.10:221508674::GT 3629/16760) Row 6539922 (NC_000001.10:221508674::GTGT 3413/16760) Row 6539923 (NC_000001.10:221508674::GTGTGT 5/16760)...	-	Apr 25, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 6539921 (NC_000001.10:221508674::GT 3629/16760) Row 6539922 (NC_000001.10:221508674::GTGT 3413/16760) Row 6539923 (NC_000001.10:221508674::GTGTGT 5/16760)...	-	Apr 25, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 6539921 (NC_000001.10:221508674::GT 3629/16760) Row 6539922 (NC_000001.10:221508674::GTGT 3413/16760) Row 6539923 (NC_000001.10:221508674::GTGTGT 5/16760)...	-	Apr 25, 2021 (155)
86	14KJPN Submission ignored due to conflicting rows: Row 10207141 (NC_000001.11:221335332::GTGT 5695/28256) Row 10207142 (NC_000001.11:221335332::GT 6086/28256) Row 10207143 (NC_000001.11:221335332::GTGTGT 8/28256)...	-	Oct 12, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 10207141 (NC_000001.11:221335332::GTGT 5695/28256) Row 10207142 (NC_000001.11:221335332::GT 6086/28256) Row 10207143 (NC_000001.11:221335332::GTGTGT 8/28256)...	-	Oct 12, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 10207141 (NC_000001.11:221335332::GTGT 5695/28256) Row 10207142 (NC_000001.11:221335332::GT 6086/28256) Row 10207143 (NC_000001.11:221335332::GTGTGT 8/28256)...	-	Oct 12, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 10207141 (NC_000001.11:221335332::GTGT 5695/28256) Row 10207142 (NC_000001.11:221335332::GT 6086/28256) Row 10207143 (NC_000001.11:221335332::GTGTGT 8/28256)...	-	Oct 12, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 10207141 (NC_000001.11:221335332::GTGT 5695/28256) Row 10207142 (NC_000001.11:221335332::GT 6086/28256) Row 10207143 (NC_000001.11:221335332::GTGTGT 8/28256)...	-	Oct 12, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 10207141 (NC_000001.11:221335332::GTGT 5695/28256) Row 10207142 (NC_000001.11:221335332::GT 6086/28256) Row 10207143 (NC_000001.11:221335332::GTGTGT 8/28256)...	-	Oct 12, 2022 (156)
92	TopMed Submission ignored due to conflicting rows: Row 48298652 (NC_000001.11:221335332:GTGTGTGT: 3/264690) Row 48298653 (NC_000001.11:221335332:GTGTGTGTGT: 2/264690)	-	Apr 25, 2021 (155)
93	TopMed Submission ignored due to conflicting rows: Row 48298652 (NC_000001.11:221335332:GTGTGTGT: 3/264690) Row 48298653 (NC_000001.11:221335332:GTGTGTGTGT: 2/264690)	-	Apr 25, 2021 (155)
94	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3113999 (NC_000001.10:221508674::GT 1414/3708) Row 3114000 (NC_000001.10:221508674::GTGT 776/3708)	-	Oct 11, 2018 (152)
95	UK 10K study - Twins Submission ignored due to conflicting rows: Row 3113999 (NC_000001.10:221508674::GT 1414/3708) Row 3114000 (NC_000001.10:221508674::GTGT 776/3708)	-	Oct 11, 2018 (152)
96	ALFA	NC_000001.11 - 221335333	Apr 25, 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)
rs200546311	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4011847524, ss4484692318	NC_000001.11:221335332:GTGTGTGTGT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT	(self)
ss4011847523, ss4484692317	NC_000001.11:221335332:GTGTGTGT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT	(self)
ss3688690723, ss4011847522	NC_000001.11:221335332:GTGTGT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT	(self)
ss4011847521	NC_000001.11:221335332:GTGT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT	(self)
ss3946553116, ss4011847520, ss5676370041	NC_000001.11:221335332:GT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	(self)
ss3688690722	NC_000001.11:221335336:GT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	(self)
ss326142277, ss326186419, ss551024097, ss552846201	NC_000001.9:219575297::GT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss288095770	NC_000001.9:219575317::GT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss1536266158, ss1701822810, ss1701822895, ss2988501875, ss3727890511, ss3783695752, ss3789306616, ss3794178963, ss3826660520, ss3836730905, ss5148570614, ss5833305528	NC_000001.10:221508674::GT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss3063627443, ss3064445336, ss3842142916, ss4011847514, ss5245904841, ss5446333652, ss5676370038	NC_000001.11:221335332::GT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss3946553114	NC_000001.11:221335334::GT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss3688690721	NC_000001.11:221335338::GT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss663159931, ss1701822814, ss1701822899, ss2988501876, ss3727890512, ss5148570615, ss5833305529	NC_000001.10:221508674::GTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4011847515, ss5245904840, ss5446333653, ss5676370037	NC_000001.11:221335332::GTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3946553115	NC_000001.11:221335334::GTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3688690720	NC_000001.11:221335338::GTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss2988501877, ss5148570616	NC_000001.10:221508674::GTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3065351472, ss4011847516, ss5676370039	NC_000001.11:221335332::GTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
11100128588	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3688690719	NC_000001.11:221335338::GTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss5148570617	NC_000001.10:221508674::GTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4011847517, ss5676370040	NC_000001.11:221335332::GTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3946553117	NC_000001.11:221335334::GTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3688690718	NC_000001.11:221335338::GTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4011847518, ss5676370042	NC_000001.11:221335332::GTGTGTGTGT	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2332979406	NC_000001.10:221508674:GTGT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT
ss2332979407	NC_000001.10:221508674:GTGTGT:	NC_000001.11:221335332:GTGTGTGTGTG… NC_000001.11:221335332:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT

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

No publications for rs140041123

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs140041123