Name: rs3029530
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.

rs3029530

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:183120446-183120463 (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)₁₁ / del(A)₈ / del(A)₅ / del…
del(A)₁₁ / del(A)₈ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.4583 (2295/5008, 1000G)
delAA=0.1186 (457/3854, ALSPAC)
del(A)₁₁=0.000 (0/180, ALFA) (+ 6 more)
delAAA=0.000 (0/180, ALFA)
delAA=0.000 (0/180, ALFA)
delA=0.000 (0/180, ALFA)
dupA=0.000 (0/180, ALFA)
dupAA=0.000 (0/180, ALFA)
dupAAA=0.000 (0/180, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NUP35 : 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	180	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAAAAA=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	104	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAAAAA=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	56	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAAAAAAA=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	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAAA=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	54	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAAAAAAA=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	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAAA=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
Latin American 2	Sub	10	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAAA=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	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAAA=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	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAAAAA=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

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	(A)₁₈=0.4583	delA=0.5417
1000Genomes	African	Sub	1322	(A)₁₈=0.6430	delA=0.3570
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.2550	delA=0.7450
1000Genomes	Europe	Sub	1006	(A)₁₈=0.4682	delA=0.5318
1000Genomes	South Asian	Sub	978	(A)₁₈=0.434	delA=0.566
1000Genomes	American	Sub	694	(A)₁₈=0.422	delA=0.578
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₈=0.8814	delAA=0.1186
Allele Frequency Aggregator	Total	Global	180	(A)₁₈=1.000	del(A)₁₁=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	European	Sub	104	(A)₁₈=1.000	del(A)₁₁=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	African	Sub	56	(A)₁₈=1.00	del(A)₁₁=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	10	(A)₁₈=1.0	del(A)₁₁=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₁₈=1.0	del(A)₁₁=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Other	Sub	4	(A)₁₈=1.0	del(A)₁₁=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₁₈=1.0	del(A)₁₁=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₈=0	del(A)₁₁=0, delAAA=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 2	NC_000002.12:g.183120453_183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120456_183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120459_183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120460_183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120461_183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120462_183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120463del
GRCh38.p14 chr 2	NC_000002.12:g.183120463dup
GRCh38.p14 chr 2	NC_000002.12:g.183120462_183120463dup
GRCh38.p14 chr 2	NC_000002.12:g.183120461_183120463dup
GRCh38.p14 chr 2	NC_000002.12:g.183120460_183120463dup
GRCh37.p13 chr 2	NC_000002.11:g.183985181_183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985184_183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985187_183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985188_183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985189_183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985190_183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985191del
GRCh37.p13 chr 2	NC_000002.11:g.183985191dup
GRCh37.p13 chr 2	NC_000002.11:g.183985190_183985191dup
GRCh37.p13 chr 2	NC_000002.11:g.183985189_183985191dup
GRCh37.p13 chr 2	NC_000002.11:g.183985188_183985191dup

Gene: NUP35, nucleoporin 35 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NUP35 transcript variant 3	NM_001287584.2:c.-12+339_… NM_001287584.2:c.-12+339_-12+349del	N/A	Intron Variant
NUP35 transcript variant 4	NM_001287585.2:c.	N/A	Genic Upstream Transcript Variant
NUP35 transcript variant 1	NM_138285.5:c.	N/A	Genic Upstream Transcript Variant
NUP35 transcript variant 2	NR_109856.2:n.	N/A	Genic Upstream Transcript Variant
NUP35 transcript variant X2	XM_006712254.4:c.-12+2827… XM_006712254.4:c.-12+2827_-12+2837del	N/A	Intron Variant
NUP35 transcript variant X5	XM_011510576.4:c.-12+339_… XM_011510576.4:c.-12+339_-12+349del	N/A	Intron Variant
NUP35 transcript variant X3	XM_011510577.3:c.-12+339_… XM_011510577.3:c.-12+339_-12+349del	N/A	Intron Variant
NUP35 transcript variant X4	XM_047443270.1:c.-12+1711… XM_047443270.1:c.-12+1711_-12+1721del	N/A	Intron Variant
NUP35 transcript variant X1	XM_017003308.1:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(A)₁₈=	del(A)₁₁	del(A)₈	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 2	NC_000002.12:g.183120446_183120463=	NC_000002.12:g.183120453_183120463del	NC_000002.12:g.183120456_183120463del	NC_000002.12:g.183120459_183120463del	NC_000002.12:g.183120460_183120463del	NC_000002.12:g.183120461_183120463del	NC_000002.12:g.183120462_183120463del	NC_000002.12:g.183120463del	NC_000002.12:g.183120463dup	NC_000002.12:g.183120462_183120463dup	NC_000002.12:g.183120461_183120463dup	NC_000002.12:g.183120460_183120463dup
GRCh37.p13 chr 2	NC_000002.11:g.183985174_183985191=	NC_000002.11:g.183985181_183985191del	NC_000002.11:g.183985184_183985191del	NC_000002.11:g.183985187_183985191del	NC_000002.11:g.183985188_183985191del	NC_000002.11:g.183985189_183985191del	NC_000002.11:g.183985190_183985191del	NC_000002.11:g.183985191del	NC_000002.11:g.183985191dup	NC_000002.11:g.183985190_183985191dup	NC_000002.11:g.183985189_183985191dup	NC_000002.11:g.183985188_183985191dup
NUP35 transcript variant 3	NM_001287584.2:c.-12+332=	NM_001287584.2:c.-12+339_-12+349del	NM_001287584.2:c.-12+342_-12+349del	NM_001287584.2:c.-12+345_-12+349del	NM_001287584.2:c.-12+346_-12+349del	NM_001287584.2:c.-12+347_-12+349del	NM_001287584.2:c.-12+348_-12+349del	NM_001287584.2:c.-12+349del	NM_001287584.2:c.-12+349dup	NM_001287584.2:c.-12+348_-12+349dup	NM_001287584.2:c.-12+347_-12+349dup	NM_001287584.2:c.-12+346_-12+349dup
NUP35 transcript variant X2	XM_005246285.1:c.-12+332=	XM_005246285.1:c.-12+339_-12+349del	XM_005246285.1:c.-12+342_-12+349del	XM_005246285.1:c.-12+345_-12+349del	XM_005246285.1:c.-12+346_-12+349del	XM_005246285.1:c.-12+347_-12+349del	XM_005246285.1:c.-12+348_-12+349del	XM_005246285.1:c.-12+349del	XM_005246285.1:c.-12+349dup	XM_005246285.1:c.-12+348_-12+349dup	XM_005246285.1:c.-12+347_-12+349dup	XM_005246285.1:c.-12+346_-12+349dup
NUP35 transcript variant X2	XM_006712254.4:c.-12+2820=	XM_006712254.4:c.-12+2827_-12+2837del	XM_006712254.4:c.-12+2830_-12+2837del	XM_006712254.4:c.-12+2833_-12+2837del	XM_006712254.4:c.-12+2834_-12+2837del	XM_006712254.4:c.-12+2835_-12+2837del	XM_006712254.4:c.-12+2836_-12+2837del	XM_006712254.4:c.-12+2837del	XM_006712254.4:c.-12+2837dup	XM_006712254.4:c.-12+2836_-12+2837dup	XM_006712254.4:c.-12+2835_-12+2837dup	XM_006712254.4:c.-12+2834_-12+2837dup
NUP35 transcript variant X5	XM_011510576.4:c.-12+332=	XM_011510576.4:c.-12+339_-12+349del	XM_011510576.4:c.-12+342_-12+349del	XM_011510576.4:c.-12+345_-12+349del	XM_011510576.4:c.-12+346_-12+349del	XM_011510576.4:c.-12+347_-12+349del	XM_011510576.4:c.-12+348_-12+349del	XM_011510576.4:c.-12+349del	XM_011510576.4:c.-12+349dup	XM_011510576.4:c.-12+348_-12+349dup	XM_011510576.4:c.-12+347_-12+349dup	XM_011510576.4:c.-12+346_-12+349dup
NUP35 transcript variant X3	XM_011510577.3:c.-12+332=	XM_011510577.3:c.-12+339_-12+349del	XM_011510577.3:c.-12+342_-12+349del	XM_011510577.3:c.-12+345_-12+349del	XM_011510577.3:c.-12+346_-12+349del	XM_011510577.3:c.-12+347_-12+349del	XM_011510577.3:c.-12+348_-12+349del	XM_011510577.3:c.-12+349del	XM_011510577.3:c.-12+349dup	XM_011510577.3:c.-12+348_-12+349dup	XM_011510577.3:c.-12+347_-12+349dup	XM_011510577.3:c.-12+346_-12+349dup
NUP35 transcript variant X4	XM_047443270.1:c.-12+1704=	XM_047443270.1:c.-12+1711_-12+1721del	XM_047443270.1:c.-12+1714_-12+1721del	XM_047443270.1:c.-12+1717_-12+1721del	XM_047443270.1:c.-12+1718_-12+1721del	XM_047443270.1:c.-12+1719_-12+1721del	XM_047443270.1:c.-12+1720_-12+1721del	XM_047443270.1:c.-12+1721del	XM_047443270.1:c.-12+1721dup	XM_047443270.1:c.-12+1720_-12+1721dup	XM_047443270.1:c.-12+1719_-12+1721dup	XM_047443270.1:c.-12+1718_-12+1721dup

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#.

61 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4260557	Mar 15, 2016 (147)
2	ABI	ss41725549	Mar 14, 2006 (126)
3	ABI	ss41791775	Mar 14, 2006 (126)
4	HGSV	ss81090899	Dec 16, 2007 (130)
5	HUMANGENOME_JCVI	ss95295453	Feb 05, 2009 (130)
6	HUMANGENOME_JCVI	ss96733897	Mar 15, 2016 (147)
7	BCMHGSC_JDW	ss103639666	Mar 15, 2016 (147)
8	PJP	ss295017546	May 09, 2011 (137)
9	PJP	ss295017547	May 09, 2011 (137)
10	SSMP	ss663265407	Apr 01, 2015 (144)
11	1000GENOMES	ss1369286532	Aug 21, 2014 (142)
12	EVA_UK10K_ALSPAC	ss1703314638	Jan 10, 2018 (151)
13	EVA_UK10K_TWINSUK	ss1703314641	Jan 10, 2018 (151)
14	EVA_UK10K_TWINSUK	ss1710042202	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1710042227	Apr 01, 2015 (144)
16	SYSTEMSBIOZJU	ss2625017343	Nov 08, 2017 (151)
17	SWEGEN	ss2990996759	Jan 10, 2018 (151)
18	URBANLAB	ss3647225086	Oct 11, 2018 (152)
19	EVA_DECODE	ss3705581851	Jul 13, 2019 (153)
20	EVA_DECODE	ss3705581852	Jul 13, 2019 (153)
21	EVA_DECODE	ss3705581853	Jul 13, 2019 (153)
22	EVA_DECODE	ss3705581854	Jul 13, 2019 (153)
23	EVA_DECODE	ss3705581855	Jul 13, 2019 (153)
24	ACPOP	ss3729179066	Jul 13, 2019 (153)
25	ACPOP	ss3729179067	Jul 13, 2019 (153)
26	ACPOP	ss3729179068	Jul 13, 2019 (153)
27	KHV_HUMAN_GENOMES	ss3802175116	Jul 13, 2019 (153)
28	EVA	ss3827394436	Apr 25, 2020 (154)
29	GNOMAD	ss4057015570	Apr 26, 2021 (155)
30	GNOMAD	ss4057015571	Apr 26, 2021 (155)
31	GNOMAD	ss4057015572	Apr 26, 2021 (155)
32	GNOMAD	ss4057015573	Apr 26, 2021 (155)
33	GNOMAD	ss4057015575	Apr 26, 2021 (155)
34	GNOMAD	ss4057015576	Apr 26, 2021 (155)
35	GNOMAD	ss4057015577	Apr 26, 2021 (155)
36	GNOMAD	ss4057015578	Apr 26, 2021 (155)
37	GNOMAD	ss4057015579	Apr 26, 2021 (155)
38	GNOMAD	ss4057015580	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5155475231	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5155475232	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5155475233	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5155475234	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5155475235	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5155475236	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5251243441	Oct 12, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5251243442	Oct 12, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5251243443	Oct 12, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5251243445	Oct 12, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5251243446	Oct 12, 2022 (156)
50	HUGCELL_USP	ss5450939949	Oct 12, 2022 (156)
51	HUGCELL_USP	ss5450939950	Oct 12, 2022 (156)
52	HUGCELL_USP	ss5450939951	Oct 12, 2022 (156)
53	HUGCELL_USP	ss5450939952	Oct 12, 2022 (156)
54	TOMMO_GENOMICS	ss5686061653	Oct 12, 2022 (156)
55	TOMMO_GENOMICS	ss5686061654	Oct 12, 2022 (156)
56	TOMMO_GENOMICS	ss5686061655	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5686061656	Oct 12, 2022 (156)
58	YY_MCH	ss5803036217	Oct 12, 2022 (156)
59	EVA	ss5821288987	Oct 12, 2022 (156)
60	EVA	ss5821288988	Oct 12, 2022 (156)
61	EVA	ss5852865409	Oct 12, 2022 (156)
62	1000Genomes	NC_000002.11 - 183985174	Oct 11, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 183985174	Oct 11, 2018 (152)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 84187233 (NC_000002.12:183120445::A 34383/108440) Row 84187234 (NC_000002.12:183120445::AA 6458/108472) Row 84187235 (NC_000002.12:183120445::AAA 321/108602)...	-	Apr 26, 2021 (155)
74	Northern Sweden Submission ignored due to conflicting rows: Row 2463931 (NC_000002.11:183985173:AA: 27/538) Row 2463932 (NC_000002.11:183985173:A: 215/538) Row 2463933 (NC_000002.11:183985173::A 86/538)	-	Jul 13, 2019 (153)
75	Northern Sweden Submission ignored due to conflicting rows: Row 2463931 (NC_000002.11:183985173:AA: 27/538) Row 2463932 (NC_000002.11:183985173:A: 215/538) Row 2463933 (NC_000002.11:183985173::A 86/538)	-	Jul 13, 2019 (153)
76	Northern Sweden Submission ignored due to conflicting rows: Row 2463931 (NC_000002.11:183985173:AA: 27/538) Row 2463932 (NC_000002.11:183985173:A: 215/538) Row 2463933 (NC_000002.11:183985173::A 86/538)	-	Jul 13, 2019 (153)
77	8.3KJPN Submission ignored due to conflicting rows: Row 13444538 (NC_000002.11:183985173:A: 14404/16632) Row 13444539 (NC_000002.11:183985173:AA: 24/16632) Row 13444540 (NC_000002.11:183985173::A 342/16632)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 13444538 (NC_000002.11:183985173:A: 14404/16632) Row 13444539 (NC_000002.11:183985173:AA: 24/16632) Row 13444540 (NC_000002.11:183985173::A 342/16632)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 13444538 (NC_000002.11:183985173:A: 14404/16632) Row 13444539 (NC_000002.11:183985173:AA: 24/16632) Row 13444540 (NC_000002.11:183985173::A 342/16632)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 13444538 (NC_000002.11:183985173:A: 14404/16632) Row 13444539 (NC_000002.11:183985173:AA: 24/16632) Row 13444540 (NC_000002.11:183985173::A 342/16632)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 13444538 (NC_000002.11:183985173:A: 14404/16632) Row 13444539 (NC_000002.11:183985173:AA: 24/16632) Row 13444540 (NC_000002.11:183985173::A 342/16632)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 13444538 (NC_000002.11:183985173:A: 14404/16632) Row 13444539 (NC_000002.11:183985173:AA: 24/16632) Row 13444540 (NC_000002.11:183985173::A 342/16632)...	-	Apr 26, 2021 (155)
83	14KJPN Submission ignored due to conflicting rows: Row 19898757 (NC_000002.12:183120445:A: 24904/28234) Row 19898758 (NC_000002.12:183120445::A 598/28234) Row 19898759 (NC_000002.12:183120445:AA: 35/28234)...	-	Oct 12, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 19898757 (NC_000002.12:183120445:A: 24904/28234) Row 19898758 (NC_000002.12:183120445::A 598/28234) Row 19898759 (NC_000002.12:183120445:AA: 35/28234)...	-	Oct 12, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 19898757 (NC_000002.12:183120445:A: 24904/28234) Row 19898758 (NC_000002.12:183120445::A 598/28234) Row 19898759 (NC_000002.12:183120445:AA: 35/28234)...	-	Oct 12, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 19898757 (NC_000002.12:183120445:A: 24904/28234) Row 19898758 (NC_000002.12:183120445::A 598/28234) Row 19898759 (NC_000002.12:183120445:AA: 35/28234)...	-	Oct 12, 2022 (156)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 6527865 (NC_000002.11:183985174:A: 2889/3708) Row 6527866 (NC_000002.11:183985173:AA: 433/3708)	-	Apr 25, 2020 (154)
88	UK 10K study - Twins	-	Oct 11, 2018 (152)
89	ALFA	NC_000002.12 - 183120446	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)
rs61315037	May 26, 2008 (130)
rs76145735	May 11, 2012 (137)
rs146243809	May 04, 2012 (137)
rs71902953	May 11, 2012 (137)
rs141699601	May 11, 2012 (137)
rs796389190	Nov 08, 2017 (151)
rs66564615	Feb 26, 2009 (130)
rs66564616	Feb 26, 2009 (130)
rs368460426	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4057015580	NC_000002.12:183120445:AAAAAAAAAAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss5155475234	NC_000002.11:183985173:AAAAAAAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4057015579	NC_000002.12:183120445:AAAAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5155475236	NC_000002.11:183985173:AAAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4057015578	NC_000002.12:183120445:AAAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3705581855, ss4057015577	NC_000002.12:183120445:AAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss103639666	NT_005403.17:34194606:AAA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6527866, ss1703314638, ss1703314641, ss2990996759, ss3729179066, ss5155475232, ss5821288988	NC_000002.11:183985173:AA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4057015576, ss5251243445, ss5450939952, ss5686061655	NC_000002.12:183120445:AA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3705581854	NC_000002.12:183120446:AA:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss81090899	NC_000002.9:183810696:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295017547	NC_000002.10:183693435:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
11813723, ss663265407, ss1369286532, ss2625017343, ss3729179067, ss5155475231, ss5821288987	NC_000002.11:183985173:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710042202, ss1710042227	NC_000002.11:183985174:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3647225086, ss3802175116, ss4057015575, ss5251243441, ss5450939949, ss5686061653, ss5803036217, ss5852865409	NC_000002.12:183120445:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3705581853	NC_000002.12:183120447:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss96733897	NT_005403.17:34194591:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4260557, ss41791775	NT_005403.17:34194608:A:	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295017546	NC_000002.10:183693419::A	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3729179068, ss3827394436, ss5155475233	NC_000002.11:183985173::A	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4057015570, ss5251243442, ss5450939950, ss5686061654	NC_000002.12:183120445::A	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3705581852	NC_000002.12:183120448::A	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss96733897	NT_005403.17:34194591:A:AA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4260557	NT_005403.17:34194608:A:AA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss41725549, ss95295453	NT_005403.17:34194609::A	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5155475235	NC_000002.11:183985173::AA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4057015571, ss5251243443, ss5450939951, ss5686061656	NC_000002.12:183120445::AA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3705581851	NC_000002.12:183120448::AA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4057015572, ss5251243446	NC_000002.12:183120445::AAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9737049019	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4057015573	NC_000002.12:183120445::AAAA	NC_000002.12:183120445:AAAAAAAAAAA… NC_000002.12:183120445:AAAAAAAAAAAAAAAAAA: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 rs3029530

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

rs3029530