Name: rs35249053
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.

rs35249053

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:46115459-46115478 (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)₈ / del(A)₇ / del(…
del(A)₉ / del(A)₈ / del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.1843 (1197/6494, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HAUS1 : 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	6494	AAAAAAAAAAAAAAAAAAAA=0.7555	AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0585, AAAAAAAAAAAAAAAAAAA=0.1843, AAAAAAAAAAAAAAAAAAAAA=0.0017, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.693241	0.069324	0.237435	32
European	Sub	5964	AAAAAAAAAAAAAAAAAAAA=0.7342	AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0635, AAAAAAAAAAAAAAAAAAA=0.2004, AAAAAAAAAAAAAAAAAAAAA=0.0018, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.662724	0.076307	0.260969	32
African	Sub	248	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	244	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	34	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	18	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	132	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	18	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	80	AAAAAAAAAAAAAAAAAAAA=0.96	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.01, AAAAAAAAAAAAAAAAAAA=0.03, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	0.974359	0.0	0.025641	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6494	(A)₂₀=0.7555	del(A)₉=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0585, delA=0.1843, dupA=0.0017, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	5964	(A)₂₀=0.7342	del(A)₉=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0635, delA=0.2004, dupA=0.0018, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	248	(A)₂₀=1.000	del(A)₉=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	132	(A)₂₀=1.000	del(A)₉=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	80	(A)₂₀=0.96	del(A)₉=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.01, delA=0.03, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	34	(A)₂₀=1.00	del(A)₉=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(A)₂₀=1.00	del(A)₉=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	18	(A)₂₀=1.00	del(A)₉=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=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 18	NC_000018.10:g.46115470_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115471_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115472_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115474_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115475_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115476_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115477_46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115478del
GRCh38.p14 chr 18	NC_000018.10:g.46115478dup
GRCh38.p14 chr 18	NC_000018.10:g.46115477_46115478dup
GRCh37.p13 chr 18	NC_000018.9:g.43695436_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695437_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695438_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695440_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695441_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695442_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695443_43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695444del
GRCh37.p13 chr 18	NC_000018.9:g.43695444dup
GRCh37.p13 chr 18	NC_000018.9:g.43695443_43695444dup

Gene: HAUS1, HAUS augmin like complex subunit 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HAUS1 transcript variant 1	NM_138443.4:c.206-2711_20… NM_138443.4:c.206-2711_206-2703del	N/A	Intron Variant
HAUS1 transcript variant 2	NR_026978.2: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	(A)₂₀=	del(A)₉	del(A)₈	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 18	NC_000018.10:g.46115459_46115478=	NC_000018.10:g.46115470_46115478del	NC_000018.10:g.46115471_46115478del	NC_000018.10:g.46115472_46115478del	NC_000018.10:g.46115474_46115478del	NC_000018.10:g.46115475_46115478del	NC_000018.10:g.46115476_46115478del	NC_000018.10:g.46115477_46115478del	NC_000018.10:g.46115478del	NC_000018.10:g.46115478dup	NC_000018.10:g.46115477_46115478dup
GRCh37.p13 chr 18	NC_000018.9:g.43695425_43695444=	NC_000018.9:g.43695436_43695444del	NC_000018.9:g.43695437_43695444del	NC_000018.9:g.43695438_43695444del	NC_000018.9:g.43695440_43695444del	NC_000018.9:g.43695441_43695444del	NC_000018.9:g.43695442_43695444del	NC_000018.9:g.43695443_43695444del	NC_000018.9:g.43695444del	NC_000018.9:g.43695444dup	NC_000018.9:g.43695443_43695444dup
HAUS1 transcript variant 1	NM_138443.3:c.206-2722=	NM_138443.3:c.206-2711_206-2703del	NM_138443.3:c.206-2710_206-2703del	NM_138443.3:c.206-2709_206-2703del	NM_138443.3:c.206-2707_206-2703del	NM_138443.3:c.206-2706_206-2703del	NM_138443.3:c.206-2705_206-2703del	NM_138443.3:c.206-2704_206-2703del	NM_138443.3:c.206-2703del	NM_138443.3:c.206-2703dup	NM_138443.3:c.206-2704_206-2703dup
HAUS1 transcript variant 1	NM_138443.4:c.206-2722=	NM_138443.4:c.206-2711_206-2703del	NM_138443.4:c.206-2710_206-2703del	NM_138443.4:c.206-2709_206-2703del	NM_138443.4:c.206-2707_206-2703del	NM_138443.4:c.206-2706_206-2703del	NM_138443.4:c.206-2705_206-2703del	NM_138443.4:c.206-2704_206-2703del	NM_138443.4:c.206-2703del	NM_138443.4:c.206-2703dup	NM_138443.4:c.206-2704_206-2703dup

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#.

48 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40881095	Mar 14, 2006 (126)
2	ABI	ss40955796	Dec 03, 2013 (138)
3	HUMANGENOME_JCVI	ss95710900	Feb 06, 2009 (130)
4	HUMANGENOME_JCVI	ss96368876	Mar 15, 2016 (147)
5	PJP	ss294939164	May 09, 2011 (134)
6	EVA_UK10K_ALSPAC	ss1708984768	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1708985351	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710761121	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710761126	Apr 01, 2015 (144)
10	SWEGEN	ss3016506607	Nov 08, 2017 (151)
11	MCHAISSO	ss3063892517	Nov 08, 2017 (151)
12	MCHAISSO	ss3065682283	Nov 08, 2017 (151)
13	EVA_DECODE	ss3701633347	Jul 13, 2019 (153)
14	EVA_DECODE	ss3701633348	Jul 13, 2019 (153)
15	EVA_DECODE	ss3701633349	Jul 13, 2019 (153)
16	EVA_DECODE	ss3701633350	Jul 13, 2019 (153)
17	EVA_DECODE	ss3701633351	Jul 13, 2019 (153)
18	EVA	ss3835162393	Apr 27, 2020 (154)
19	KOGIC	ss3980125683	Apr 27, 2020 (154)
20	KOGIC	ss3980125684	Apr 27, 2020 (154)
21	KOGIC	ss3980125685	Apr 27, 2020 (154)
22	KOGIC	ss3980125686	Apr 27, 2020 (154)
23	GNOMAD	ss4321828091	Apr 26, 2021 (155)
24	GNOMAD	ss4321828092	Apr 26, 2021 (155)
25	GNOMAD	ss4321828093	Apr 26, 2021 (155)
26	GNOMAD	ss4321828094	Apr 26, 2021 (155)
27	GNOMAD	ss4321828095	Apr 26, 2021 (155)
28	GNOMAD	ss4321828096	Apr 26, 2021 (155)
29	GNOMAD	ss4321828097	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5225113945	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5225113946	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5225113947	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5225113948	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5225113949	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5305250728	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5305250729	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5305250730	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5305250731	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5305250732	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5498025776	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5498025777	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5498025778	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5782889192	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5782889193	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5782889194	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5782889195	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5782889196	Oct 16, 2022 (156)
48	EVA	ss5852046896	Oct 16, 2022 (156)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41166272 (NC_000018.9:43695425:A: 2003/3854) Row 41166273 (NC_000018.9:43695424:AAA: 463/3854)	-	Oct 12, 2018 (152)
50	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 41166272 (NC_000018.9:43695425:A: 2003/3854) Row 41166273 (NC_000018.9:43695424:AAA: 463/3854)	-	Oct 12, 2018 (152)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 524203571 (NC_000018.10:46115458::A 1458/100154) Row 524203572 (NC_000018.10:46115458::AA 14/100228) Row 524203573 (NC_000018.10:46115458:A: 35513/99796)...	-	Apr 26, 2021 (155)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 36503684 (NC_000018.10:46115458:AAA: 127/1826) Row 36503685 (NC_000018.10:46115460:A: 243/1826) Row 36503686 (NC_000018.10:46115459:AA: 668/1826)...	-	Apr 27, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 36503684 (NC_000018.10:46115458:AAA: 127/1826) Row 36503685 (NC_000018.10:46115460:A: 243/1826) Row 36503686 (NC_000018.10:46115459:AA: 668/1826)...	-	Apr 27, 2020 (154)
61	Korean Genome Project Submission ignored due to conflicting rows: Row 36503684 (NC_000018.10:46115458:AAA: 127/1826) Row 36503685 (NC_000018.10:46115460:A: 243/1826) Row 36503686 (NC_000018.10:46115459:AA: 668/1826)...	-	Apr 27, 2020 (154)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 36503684 (NC_000018.10:46115458:AAA: 127/1826) Row 36503685 (NC_000018.10:46115460:A: 243/1826) Row 36503686 (NC_000018.10:46115459:AA: 668/1826)...	-	Apr 27, 2020 (154)
63	8.3KJPN Submission ignored due to conflicting rows: Row 83083252 (NC_000018.9:43695424:AA: 7717/16728) Row 83083253 (NC_000018.9:43695424:A: 325/16728) Row 83083254 (NC_000018.9:43695424:AAA: 17/16728)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 83083252 (NC_000018.9:43695424:AA: 7717/16728) Row 83083253 (NC_000018.9:43695424:A: 325/16728) Row 83083254 (NC_000018.9:43695424:AAA: 17/16728)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 83083252 (NC_000018.9:43695424:AA: 7717/16728) Row 83083253 (NC_000018.9:43695424:A: 325/16728) Row 83083254 (NC_000018.9:43695424:AAA: 17/16728)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 83083252 (NC_000018.9:43695424:AA: 7717/16728) Row 83083253 (NC_000018.9:43695424:A: 325/16728) Row 83083254 (NC_000018.9:43695424:AAA: 17/16728)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 83083252 (NC_000018.9:43695424:AA: 7717/16728) Row 83083253 (NC_000018.9:43695424:A: 325/16728) Row 83083254 (NC_000018.9:43695424:AAA: 17/16728)...	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 116726296 (NC_000018.10:46115458:AA: 13477/28186) Row 116726297 (NC_000018.10:46115458:A: 577/28186) Row 116726298 (NC_000018.10:46115458:AAA: 26/28186)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 116726296 (NC_000018.10:46115458:AA: 13477/28186) Row 116726297 (NC_000018.10:46115458:A: 577/28186) Row 116726298 (NC_000018.10:46115458:AAA: 26/28186)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 116726296 (NC_000018.10:46115458:AA: 13477/28186) Row 116726297 (NC_000018.10:46115458:A: 577/28186) Row 116726298 (NC_000018.10:46115458:AAA: 26/28186)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 116726296 (NC_000018.10:46115458:AA: 13477/28186) Row 116726297 (NC_000018.10:46115458:A: 577/28186) Row 116726298 (NC_000018.10:46115458:AAA: 26/28186)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 116726296 (NC_000018.10:46115458:AA: 13477/28186) Row 116726297 (NC_000018.10:46115458:A: 577/28186) Row 116726298 (NC_000018.10:46115458:AAA: 26/28186)...	-	Oct 16, 2022 (156)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41166272 (NC_000018.9:43695425:A: 1922/3708) Row 41166273 (NC_000018.9:43695424:AAA: 481/3708)	-	Oct 12, 2018 (152)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 41166272 (NC_000018.9:43695425:A: 1922/3708) Row 41166273 (NC_000018.9:43695424:AAA: 481/3708)	-	Oct 12, 2018 (152)
75	ALFA	NC_000018.10 - 46115459	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)
rs35281464	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3016506607	NC_000018.9:43695424:AAAAAAAAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4321828097	NC_000018.10:46115458:AAAAAAAAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss5305250732	NC_000018.10:46115458:AAAAAAAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA
ss4321828096	NC_000018.10:46115458:AAAAAAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3701633351, ss4321828095	NC_000018.10:46115458:AAAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1708984768, ss1708985351, ss5225113947	NC_000018.9:43695424:AAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3980125683, ss4321828094, ss5305250731, ss5782889194	NC_000018.10:46115458:AAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3701633350	NC_000018.10:46115459:AAA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss294939164	NC_000018.8:41949422:AA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5225113945	NC_000018.9:43695424:AA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710761121, ss1710761126	NC_000018.9:43695425:AA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3063892517, ss3065682283, ss4321828093, ss5305250728, ss5498025776, ss5782889192, ss5852046896	NC_000018.10:46115458:AA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3980125685	NC_000018.10:46115459:AA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3701633349	NC_000018.10:46115460:AA:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss96368876	NT_010966.14:25184544:AATTAGCC:TTA… NT_010966.14:25184544:AATTAGCC:TTAGCC	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3835162393, ss5225113946	NC_000018.9:43695424:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
	NC_000018.9:43695425:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5305250729, ss5498025777, ss5782889193	NC_000018.10:46115458:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3980125684	NC_000018.10:46115460:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3701633348	NC_000018.10:46115461:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss40955796	NT_010966.14:25184544:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss40881095, ss95710900	NT_010966.14:25184545:A:	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5225113948	NC_000018.9:43695424::A	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4321828091, ss5305250730, ss5498025778, ss5782889195	NC_000018.10:46115458::A	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3980125686	NC_000018.10:46115461::A	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3701633347	NC_000018.10:46115462::A	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5225113949	NC_000018.9:43695424::AA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4321828092, ss5782889196	NC_000018.10:46115458::AA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3849004630	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:46115458:AAAAAAAAAAAA… NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(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 rs35249053

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

rs35249053