Name: rs34057869
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.

rs34057869

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:21312123-21312141 (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)₈ / del(A)₆ / del(A)₅ / del(…
del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.2974 (1738/5844, ALFA)
(A)₁₉=0.4459 (2233/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ECE1 : 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	5844	AAAAAAAAAAAAAAAAAAA=0.6314	AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0643, AAAAAAAAAAAAAAAAAA=0.2974, AAAAAAAAAAAAAAAAAAAA=0.0068	0.513085	0.138779	0.348136	32
European	Sub	5466	AAAAAAAAAAAAAAAAAAA=0.6068	AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0686, AAAAAAAAAAAAAAAAAA=0.3172, AAAAAAAAAAAAAAAAAAAA=0.0073	0.47515	0.149957	0.374893	32
African	Sub	86	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	84	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	28	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	20	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	160	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	76	AAAAAAAAAAAAAAAAAAA=0.93	AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.01, AAAAAAAAAAAAAAAAAA=0.05, AAAAAAAAAAAAAAAAAAAA=0.00	0.918919	0.0	0.081081	0

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5844	(A)₁₉=0.6314	del(A)₈=0.0000, delAAA=0.0000, delAA=0.0643, delA=0.2974, dupA=0.0068
Allele Frequency Aggregator	European	Sub	5466	(A)₁₉=0.6068	del(A)₈=0.0000, delAAA=0.0000, delAA=0.0686, delA=0.3172, dupA=0.0073
Allele Frequency Aggregator	Latin American 2	Sub	160	(A)₁₉=1.000	del(A)₈=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	African	Sub	86	(A)₁₉=1.00	del(A)₈=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Other	Sub	76	(A)₁₉=0.93	del(A)₈=0.00, delAAA=0.00, delAA=0.01, delA=0.05, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	28	(A)₁₉=1.00	del(A)₈=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(A)₁₉=1.00	del(A)₈=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(A)₁₉=1.0	del(A)₈=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
1000Genomes	Global	Study-wide	5008	(A)₁₉=0.4459	delA=0.5541
1000Genomes	African	Sub	1322	(A)₁₉=0.2481	delA=0.7519
1000Genomes	East Asian	Sub	1008	(A)₁₉=0.5694	delA=0.4306
1000Genomes	Europe	Sub	1006	(A)₁₉=0.4702	delA=0.5298
1000Genomes	South Asian	Sub	978	(A)₁₉=0.496	delA=0.504
1000Genomes	American	Sub	694	(A)₁₉=0.537	delA=0.463

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.21312134_21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312136_21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312137_21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312138_21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312139_21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312140_21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312141del
GRCh38.p14 chr 1	NC_000001.11:g.21312141dup
GRCh38.p14 chr 1	NC_000001.11:g.21312140_21312141dup
GRCh37.p13 chr 1	NC_000001.10:g.21638627_21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638629_21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638630_21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638631_21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638632_21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638633_21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638634del
GRCh37.p13 chr 1	NC_000001.10:g.21638634dup
GRCh37.p13 chr 1	NC_000001.10:g.21638633_21638634dup
ECE1 RefSeqGene	NG_013008.2:g.38412_38419del
ECE1 RefSeqGene	NG_013008.2:g.38414_38419del
ECE1 RefSeqGene	NG_013008.2:g.38415_38419del
ECE1 RefSeqGene	NG_013008.2:g.38416_38419del
ECE1 RefSeqGene	NG_013008.2:g.38417_38419del
ECE1 RefSeqGene	NG_013008.2:g.38418_38419del
ECE1 RefSeqGene	NG_013008.2:g.38419del
ECE1 RefSeqGene	NG_013008.2:g.38419dup
ECE1 RefSeqGene	NG_013008.2:g.38418_38419dup

Gene: ECE1, endothelin converting enzyme 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ECE1 transcript variant 4	NM_001113348.2:c.4-21974_… NM_001113348.2:c.4-21974_4-21967del	N/A	Intron Variant
ECE1 transcript variant 3	NM_001113347.2:c.	N/A	Genic Upstream Transcript Variant
ECE1 transcript variant 2	NM_001113349.2:c.	N/A	Genic Upstream Transcript Variant
ECE1 transcript variant 1	NM_001397.3:c.	N/A	Genic Upstream Transcript Variant
ECE1 transcript variant X1	XM_011540872.3:c.75+17076… XM_011540872.3:c.75+17076_75+17083del	N/A	Intron Variant
ECE1 transcript variant X4	XM_011540873.3:c.1-21974_… XM_011540873.3:c.1-21974_1-21967del	N/A	Intron Variant
ECE1 transcript variant X2	XM_047448096.1:c.-1+8587_… XM_047448096.1:c.-1+8587_-1+8594del	N/A	Intron Variant
ECE1 transcript variant X3	XM_006710398.3: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	(A)₁₉=	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 1	NC_000001.11:g.21312123_21312141=	NC_000001.11:g.21312134_21312141del	NC_000001.11:g.21312136_21312141del	NC_000001.11:g.21312137_21312141del	NC_000001.11:g.21312138_21312141del	NC_000001.11:g.21312139_21312141del	NC_000001.11:g.21312140_21312141del	NC_000001.11:g.21312141del	NC_000001.11:g.21312141dup	NC_000001.11:g.21312140_21312141dup
GRCh37.p13 chr 1	NC_000001.10:g.21638616_21638634=	NC_000001.10:g.21638627_21638634del	NC_000001.10:g.21638629_21638634del	NC_000001.10:g.21638630_21638634del	NC_000001.10:g.21638631_21638634del	NC_000001.10:g.21638632_21638634del	NC_000001.10:g.21638633_21638634del	NC_000001.10:g.21638634del	NC_000001.10:g.21638634dup	NC_000001.10:g.21638633_21638634dup
ECE1 RefSeqGene	NG_013008.2:g.38401_38419=	NG_013008.2:g.38412_38419del	NG_013008.2:g.38414_38419del	NG_013008.2:g.38415_38419del	NG_013008.2:g.38416_38419del	NG_013008.2:g.38417_38419del	NG_013008.2:g.38418_38419del	NG_013008.2:g.38419del	NG_013008.2:g.38419dup	NG_013008.2:g.38418_38419dup
ECE1 transcript variant 4	NM_001113348.1:c.4-21967=	NM_001113348.1:c.4-21974_4-21967del	NM_001113348.1:c.4-21972_4-21967del	NM_001113348.1:c.4-21971_4-21967del	NM_001113348.1:c.4-21970_4-21967del	NM_001113348.1:c.4-21969_4-21967del	NM_001113348.1:c.4-21968_4-21967del	NM_001113348.1:c.4-21967del	NM_001113348.1:c.4-21967dup	NM_001113348.1:c.4-21968_4-21967dup
ECE1 transcript variant 4	NM_001113348.2:c.4-21967=	NM_001113348.2:c.4-21974_4-21967del	NM_001113348.2:c.4-21972_4-21967del	NM_001113348.2:c.4-21971_4-21967del	NM_001113348.2:c.4-21970_4-21967del	NM_001113348.2:c.4-21969_4-21967del	NM_001113348.2:c.4-21968_4-21967del	NM_001113348.2:c.4-21967del	NM_001113348.2:c.4-21967dup	NM_001113348.2:c.4-21968_4-21967dup
ECE1 transcript variant X1	XM_011540872.3:c.75+17083=	XM_011540872.3:c.75+17076_75+17083del	XM_011540872.3:c.75+17078_75+17083del	XM_011540872.3:c.75+17079_75+17083del	XM_011540872.3:c.75+17080_75+17083del	XM_011540872.3:c.75+17081_75+17083del	XM_011540872.3:c.75+17082_75+17083del	XM_011540872.3:c.75+17083del	XM_011540872.3:c.75+17083dup	XM_011540872.3:c.75+17082_75+17083dup
ECE1 transcript variant X4	XM_011540873.3:c.1-21967=	XM_011540873.3:c.1-21974_1-21967del	XM_011540873.3:c.1-21972_1-21967del	XM_011540873.3:c.1-21971_1-21967del	XM_011540873.3:c.1-21970_1-21967del	XM_011540873.3:c.1-21969_1-21967del	XM_011540873.3:c.1-21968_1-21967del	XM_011540873.3:c.1-21967del	XM_011540873.3:c.1-21967dup	XM_011540873.3:c.1-21968_1-21967dup
ECE1 transcript variant X2	XM_047448096.1:c.-1+8594=	XM_047448096.1:c.-1+8587_-1+8594del	XM_047448096.1:c.-1+8589_-1+8594del	XM_047448096.1:c.-1+8590_-1+8594del	XM_047448096.1:c.-1+8591_-1+8594del	XM_047448096.1:c.-1+8592_-1+8594del	XM_047448096.1:c.-1+8593_-1+8594del	XM_047448096.1:c.-1+8594del	XM_047448096.1:c.-1+8594dup	XM_047448096.1:c.-1+8593_-1+8594dup

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, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41229063	Mar 13, 2006 (126)
2	HGSV	ss82681248	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95223308	Mar 15, 2016 (147)
4	PJP	ss294569134	May 09, 2011 (134)
5	PJP	ss294569135	May 09, 2011 (137)
6	1000GENOMES	ss1367670444	Aug 21, 2014 (142)
7	EVA_UK10K_ALSPAC	ss1700352578	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1700352584	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1709912181	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1709912183	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1709914912	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1709914914	Apr 01, 2015 (144)
13	SWEGEN	ss2986441022	Nov 08, 2017 (151)
14	URBANLAB	ss3646618669	Oct 11, 2018 (152)
15	EVA_DECODE	ss3686315521	Jul 12, 2019 (153)
16	EVA_DECODE	ss3686315522	Jul 12, 2019 (153)
17	EVA_DECODE	ss3686315523	Jul 12, 2019 (153)
18	EVA_DECODE	ss3686315524	Jul 12, 2019 (153)
19	ACPOP	ss3726856336	Jul 12, 2019 (153)
20	ACPOP	ss3726856337	Jul 12, 2019 (153)
21	PACBIO	ss3789018651	Jul 12, 2019 (153)
22	PACBIO	ss3793891130	Jul 12, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3798942067	Jul 12, 2019 (153)
24	EVA	ss3826062921	Apr 25, 2020 (154)
25	KOGIC	ss3944000378	Apr 25, 2020 (154)
26	KOGIC	ss3944000379	Apr 25, 2020 (154)
27	KOGIC	ss3944000380	Apr 25, 2020 (154)
28	KOGIC	ss3944000381	Apr 25, 2020 (154)
29	GNOMAD	ss3989581074	Apr 25, 2021 (155)
30	GNOMAD	ss3989581075	Apr 25, 2021 (155)
31	GNOMAD	ss3989581076	Apr 25, 2021 (155)
32	GNOMAD	ss3989581077	Apr 25, 2021 (155)
33	GNOMAD	ss3989581078	Apr 25, 2021 (155)
34	GNOMAD	ss3989581079	Apr 25, 2021 (155)
35	GNOMAD	ss3989581080	Apr 25, 2021 (155)
36	GNOMAD	ss3989581081	Apr 25, 2021 (155)
37	GNOMAD	ss3989581082	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5142858587	Apr 25, 2021 (155)
39	TOMMO_GENOMICS	ss5142858588	Apr 25, 2021 (155)
40	TOMMO_GENOMICS	ss5142858589	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5142858590	Apr 25, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5241455570	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5241455571	Oct 12, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5241455572	Oct 12, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5241455573	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5442611572	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5442611573	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5442611574	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5667273747	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5667273748	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5667273749	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5667273750	Oct 12, 2022 (156)
53	EVA	ss5848816722	Oct 12, 2022 (156)
54	1000Genomes	NC_000001.10 - 21638616	Oct 11, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 350806 (NC_000001.10:21638616:A: 1279/3854) Row 350807 (NC_000001.10:21638615:AAA: 282/3854)	-	Oct 11, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 350806 (NC_000001.10:21638616:A: 1279/3854) Row 350807 (NC_000001.10:21638615:AAA: 282/3854)	-	Oct 11, 2018 (152)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4616553 (NC_000001.11:21312122::A 529/103774) Row 4616554 (NC_000001.11:21312122::AA 1/103818) Row 4616555 (NC_000001.11:21312122:A: 53075/103844)...	-	Apr 25, 2021 (155)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 378379 (NC_000001.11:21312123:AA: 572/1826) Row 378380 (NC_000001.11:21312122:AAA: 25/1826) Row 378381 (NC_000001.11:21312124:A: 313/1826)...	-	Apr 25, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 378379 (NC_000001.11:21312123:AA: 572/1826) Row 378380 (NC_000001.11:21312122:AAA: 25/1826) Row 378381 (NC_000001.11:21312124:A: 313/1826)...	-	Apr 25, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 378379 (NC_000001.11:21312123:AA: 572/1826) Row 378380 (NC_000001.11:21312122:AAA: 25/1826) Row 378381 (NC_000001.11:21312124:A: 313/1826)...	-	Apr 25, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 378379 (NC_000001.11:21312123:AA: 572/1826) Row 378380 (NC_000001.11:21312122:AAA: 25/1826) Row 378381 (NC_000001.11:21312124:A: 313/1826)...	-	Apr 25, 2020 (154)
70	Northern Sweden Submission ignored due to conflicting rows: Row 141201 (NC_000001.10:21638615:A: 275/576) Row 141202 (NC_000001.10:21638615:AA: 42/576)	-	Jul 12, 2019 (153)
71	Northern Sweden Submission ignored due to conflicting rows: Row 141201 (NC_000001.10:21638615:A: 275/576) Row 141202 (NC_000001.10:21638615:AA: 42/576)	-	Jul 12, 2019 (153)
72	8.3KJPN Submission ignored due to conflicting rows: Row 827894 (NC_000001.10:21638615:AA: 5530/16746) Row 827895 (NC_000001.10:21638615:A: 2810/16746) Row 827896 (NC_000001.10:21638615:AAA: 13/16746)...	-	Apr 25, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 827894 (NC_000001.10:21638615:AA: 5530/16746) Row 827895 (NC_000001.10:21638615:A: 2810/16746) Row 827896 (NC_000001.10:21638615:AAA: 13/16746)...	-	Apr 25, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 827894 (NC_000001.10:21638615:AA: 5530/16746) Row 827895 (NC_000001.10:21638615:A: 2810/16746) Row 827896 (NC_000001.10:21638615:AAA: 13/16746)...	-	Apr 25, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 827894 (NC_000001.10:21638615:AA: 5530/16746) Row 827895 (NC_000001.10:21638615:A: 2810/16746) Row 827896 (NC_000001.10:21638615:AAA: 13/16746)...	-	Apr 25, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 1110851 (NC_000001.11:21312122:AA: 9441/28252) Row 1110852 (NC_000001.11:21312122:A: 4777/28252) Row 1110853 (NC_000001.11:21312122::A 39/28252)...	-	Oct 12, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 1110851 (NC_000001.11:21312122:AA: 9441/28252) Row 1110852 (NC_000001.11:21312122:A: 4777/28252) Row 1110853 (NC_000001.11:21312122::A 39/28252)...	-	Oct 12, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 1110851 (NC_000001.11:21312122:AA: 9441/28252) Row 1110852 (NC_000001.11:21312122:A: 4777/28252) Row 1110853 (NC_000001.11:21312122::A 39/28252)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 1110851 (NC_000001.11:21312122:AA: 9441/28252) Row 1110852 (NC_000001.11:21312122:A: 4777/28252) Row 1110853 (NC_000001.11:21312122::A 39/28252)...	-	Oct 12, 2022 (156)
80	UK 10K study - Twins Submission ignored due to conflicting rows: Row 350805 (NC_000001.10:21638617:A: 1535/3708) Row 350806 (NC_000001.10:21638616:AA: 1321/3708) Row 350807 (NC_000001.10:21638615:AAA: 230/3708)	-	Apr 25, 2020 (154)
81	UK 10K study - Twins Submission ignored due to conflicting rows: Row 350806 (NC_000001.10:21638616:A: 1321/3708) Row 350807 (NC_000001.10:21638615:AAA: 230/3708)	-	Oct 11, 2018 (152)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 350806 (NC_000001.10:21638616:A: 1321/3708) Row 350807 (NC_000001.10:21638615:AAA: 230/3708)	-	Oct 11, 2018 (152)
83	ALFA	NC_000001.11 - 21312123	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)
rs145585128	May 11, 2012 (137)
rs869038633	Jul 19, 2016 (147)
rs71014185	Oct 26, 2010 (133)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3989581082	NC_000001.11:21312122:AAAAAAAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
5122365446	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3989581081	NC_000001.11:21312122:AAAAAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3989581080	NC_000001.11:21312122:AAAAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3989581079	NC_000001.11:21312122:AAAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss82681248	NC_000001.8:21383937:AAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1700352578, ss1700352584, ss5142858589	NC_000001.10:21638615:AAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3686315524, ss3944000379, ss3989581078, ss5241455573, ss5667273750	NC_000001.11:21312122:AAA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5122365446	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2986441022, ss3726856337, ss3789018651, ss3793891130, ss5142858587	NC_000001.10:21638615:AA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1709912183, ss1709914914	NC_000001.10:21638616:AA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3989581077, ss5241455571, ss5442611572, ss5667273747, ss5848816722	NC_000001.11:21312122:AA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5122365446	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3686315523, ss3944000378	NC_000001.11:21312123:AA:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss294569134	NC_000001.9:21511202:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss294569135	NC_000001.9:21511220:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
663422, ss1367670444, ss3726856336, ss3826062921, ss5142858588	NC_000001.10:21638615:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
	NC_000001.10:21638616:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1709912181, ss1709914912	NC_000001.10:21638617:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3646618669, ss3798942067, ss3989581076, ss5241455570, ss5442611573, ss5667273748	NC_000001.11:21312122:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
5122365446	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3686315522, ss3944000380	NC_000001.11:21312124:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss41229063	NT_004610.19:8318703:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95223308	NT_004610.19:8318721:A:	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5142858590	NC_000001.10:21638615::A	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3989581074, ss5241455572, ss5442611574, ss5667273749	NC_000001.11:21312122::A	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5122365446	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3686315521, ss3944000381	NC_000001.11:21312125::A	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3989581075	NC_000001.11:21312122::AA	NC_000001.11:21312122:AAAAAAAAAAAA… NC_000001.11:21312122:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(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 rs34057869

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

rs34057869