Name: rs3048332
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.

rs3048332

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:62140653-62140666 (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: delAA / delA / dupA / dupAA / dupA…
delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₁₃ / ins(A)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₄=0.2827 (1416/5008, 1000G)
delAA=0.00 (0/70, ALFA)
delA=0.00 (0/70, ALFA) (+ 5 more)
dupA=0.00 (0/70, ALFA)
dupAA=0.00 (0/70, ALFA)
dupAAA=0.00 (0/70, ALFA)
dup(A)₄=0.00 (0/70, ALFA)
dup(A)₅=0.00 (0/70, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADGRL3-AS1 : Intron Variant
LOC101927145 : 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	70	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	4	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African	Sub	50	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	8	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	42	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	8	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	6	AAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=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	- No frequency provided	dupA=0.7173
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.4433
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.7560
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.7932
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.911
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.800
Allele Frequency Aggregator	Total	Global	70	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	African	Sub	50	(A)₁₄=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	8	(A)₁₄=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Other	Sub	6	(A)₁₄=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	European	Sub	4	(A)₁₄=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Asian	Sub	2	(A)₁₄=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₄=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₄=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 4	NC_000004.12:g.62140665_62140666del
GRCh38.p14 chr 4	NC_000004.12:g.62140666del
GRCh38.p14 chr 4	NC_000004.12:g.62140666dup
GRCh38.p14 chr 4	NC_000004.12:g.62140665_62140666dup
GRCh38.p14 chr 4	NC_000004.12:g.62140664_62140666dup
GRCh38.p14 chr 4	NC_000004.12:g.62140663_62140666dup
GRCh38.p14 chr 4	NC_000004.12:g.62140662_62140666dup
GRCh38.p14 chr 4	NC_000004.12:g.62140654_62140666dup
GRCh38.p14 chr 4	NC_000004.12:g.62140666_62140667insAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.63006383_63006384del
GRCh37.p13 chr 4	NC_000004.11:g.63006384del
GRCh37.p13 chr 4	NC_000004.11:g.63006384dup
GRCh37.p13 chr 4	NC_000004.11:g.63006383_63006384dup
GRCh37.p13 chr 4	NC_000004.11:g.63006382_63006384dup
GRCh37.p13 chr 4	NC_000004.11:g.63006381_63006384dup
GRCh37.p13 chr 4	NC_000004.11:g.63006380_63006384dup
GRCh37.p13 chr 4	NC_000004.11:g.63006372_63006384dup
GRCh37.p13 chr 4	NC_000004.11:g.63006384_63006385insAAAAAAAAAAAAAAA

Gene: ADGRL3-AS1, ADGRL3 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADGRL3-AS1 transcript	NR_110595.1:n.	N/A	Intron Variant

Gene: LOC101927145, uncharacterized LOC101927145 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101927145 transcript variant X3	XR_001741397.2:n.	N/A	Intron Variant
LOC101927145 transcript variant X4	XR_001741398.2:n.	N/A	Intron Variant
LOC101927145 transcript variant X1	XR_245246.5:n.	N/A	Intron Variant
LOC101927145 transcript variant X2	XR_938809.3: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)₁₄=	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₁₃	ins(A)₁₅
GRCh38.p14 chr 4	NC_000004.12:g.62140653_62140666=	NC_000004.12:g.62140665_62140666del	NC_000004.12:g.62140666del	NC_000004.12:g.62140666dup	NC_000004.12:g.62140665_62140666dup	NC_000004.12:g.62140664_62140666dup	NC_000004.12:g.62140663_62140666dup	NC_000004.12:g.62140662_62140666dup	NC_000004.12:g.62140654_62140666dup	NC_000004.12:g.62140666_62140667insAAAAAAAAAAAAAAA
GRCh37.p13 chr 4	NC_000004.11:g.63006371_63006384=	NC_000004.11:g.63006383_63006384del	NC_000004.11:g.63006384del	NC_000004.11:g.63006384dup	NC_000004.11:g.63006383_63006384dup	NC_000004.11:g.63006382_63006384dup	NC_000004.11:g.63006381_63006384dup	NC_000004.11:g.63006380_63006384dup	NC_000004.11:g.63006372_63006384dup	NC_000004.11:g.63006384_63006385insAAAAAAAAAAAAAAA

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#.

70 SubSNP, 36 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4279539	Jan 05, 2002 (102)
2	HGSV	ss80877043	Oct 12, 2018 (152)
3	HUMANGENOME_JCVI	ss95356365	Feb 04, 2009 (138)
4	BL	ss256014631	May 09, 2011 (135)
5	GMI	ss288530605	May 04, 2012 (138)
6	PJP	ss295167927	May 09, 2011 (138)
7	BILGI_BIOE	ss666260500	Apr 25, 2013 (138)
8	1000GENOMES	ss1372233439	Aug 21, 2014 (142)
9	DDI	ss1536409287	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1704178090	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1704178092	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1704178093	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1704178819	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1704178822	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1704178825	Apr 01, 2015 (144)
16	SWEGEN	ss2994772242	Nov 08, 2017 (151)
17	SWEGEN	ss2994772243	Nov 08, 2017 (151)
18	SWEGEN	ss2994772244	Nov 08, 2017 (151)
19	URBANLAB	ss3647740662	Oct 12, 2018 (152)
20	EVA_DECODE	ss3712138881	Jul 13, 2019 (153)
21	EVA_DECODE	ss3712138882	Jul 13, 2019 (153)
22	EVA_DECODE	ss3712138883	Jul 13, 2019 (153)
23	EVA_DECODE	ss3712138884	Jul 13, 2019 (153)
24	ACPOP	ss3731188756	Jul 13, 2019 (153)
25	ACPOP	ss3731188757	Jul 13, 2019 (153)
26	ACPOP	ss3731188758	Jul 13, 2019 (153)
27	ACPOP	ss3731188759	Jul 13, 2019 (153)
28	PACBIO	ss3784725524	Jul 13, 2019 (153)
29	PACBIO	ss3790181687	Jul 13, 2019 (153)
30	PACBIO	ss3795056795	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3804988960	Jul 13, 2019 (153)
32	EVA	ss3828564254	Apr 26, 2020 (154)
33	EVA	ss3837719942	Apr 26, 2020 (154)
34	KOGIC	ss3954267035	Apr 26, 2020 (154)
35	KOGIC	ss3954267036	Apr 26, 2020 (154)
36	KOGIC	ss3954267037	Apr 26, 2020 (154)
37	KOGIC	ss3954267038	Apr 26, 2020 (154)
38	KOGIC	ss3954267039	Apr 26, 2020 (154)
39	GNOMAD	ss4112055433	Apr 26, 2021 (155)
40	GNOMAD	ss4112055434	Apr 26, 2021 (155)
41	GNOMAD	ss4112055435	Apr 26, 2021 (155)
42	GNOMAD	ss4112055436	Apr 26, 2021 (155)
43	GNOMAD	ss4112055437	Apr 26, 2021 (155)
44	GNOMAD	ss4112055438	Apr 26, 2021 (155)
45	GNOMAD	ss4112055442	Apr 26, 2021 (155)
46	GNOMAD	ss4112055443	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5165911775	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5165911776	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5165911777	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5165911778	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5165911779	Apr 26, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5259357245	Oct 17, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5259357246	Oct 17, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5259357247	Oct 17, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5259357248	Oct 17, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5259357249	Oct 17, 2022 (156)
57	HUGCELL_USP	ss5458098542	Oct 17, 2022 (156)
58	HUGCELL_USP	ss5458098543	Oct 17, 2022 (156)
59	HUGCELL_USP	ss5458098544	Oct 17, 2022 (156)
60	HUGCELL_USP	ss5458098545	Oct 17, 2022 (156)
61	EVA	ss5507532294	Oct 17, 2022 (156)
62	TOMMO_GENOMICS	ss5700311068	Oct 17, 2022 (156)
63	TOMMO_GENOMICS	ss5700311069	Oct 17, 2022 (156)
64	TOMMO_GENOMICS	ss5700311070	Oct 17, 2022 (156)
65	TOMMO_GENOMICS	ss5700311071	Oct 17, 2022 (156)
66	TOMMO_GENOMICS	ss5700311072	Oct 17, 2022 (156)
67	TOMMO_GENOMICS	ss5700311073	Oct 17, 2022 (156)
68	EVA	ss5844057678	Oct 17, 2022 (156)
69	EVA	ss5844057679	Oct 17, 2022 (156)
70	EVA	ss5844057680	Oct 17, 2022 (156)
71	1000Genomes	NC_000004.11 - 63006371	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 11857275 (NC_000004.11:63006370::AA 837/3854) Row 11857276 (NC_000004.11:63006370::A 2018/3854) Row 11857277 (NC_000004.11:63006370::AAA 990/3854)	-	Oct 12, 2018 (152)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 11857275 (NC_000004.11:63006370::AA 837/3854) Row 11857276 (NC_000004.11:63006370::A 2018/3854) Row 11857277 (NC_000004.11:63006370::AAA 990/3854)	-	Oct 12, 2018 (152)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 11857275 (NC_000004.11:63006370::AA 837/3854) Row 11857276 (NC_000004.11:63006370::A 2018/3854) Row 11857277 (NC_000004.11:63006370::AAA 990/3854)	-	Oct 12, 2018 (152)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 151041918 (NC_000004.12:62140652::A 77839/131584) Row 151041919 (NC_000004.12:62140652::AA 31907/131580) Row 151041920 (NC_000004.12:62140652::AAA 13049/131598)...	-	Apr 26, 2021 (155)
83	Korean Genome Project Submission ignored due to conflicting rows: Row 10645036 (NC_000004.12:62140652::A 904/1828) Row 10645037 (NC_000004.12:62140652::AA 343/1828) Row 10645038 (NC_000004.12:62140652::AAA 223/1828)...	-	Apr 26, 2020 (154)
84	Korean Genome Project Submission ignored due to conflicting rows: Row 10645036 (NC_000004.12:62140652::A 904/1828) Row 10645037 (NC_000004.12:62140652::AA 343/1828) Row 10645038 (NC_000004.12:62140652::AAA 223/1828)...	-	Apr 26, 2020 (154)
85	Korean Genome Project Submission ignored due to conflicting rows: Row 10645036 (NC_000004.12:62140652::A 904/1828) Row 10645037 (NC_000004.12:62140652::AA 343/1828) Row 10645038 (NC_000004.12:62140652::AAA 223/1828)...	-	Apr 26, 2020 (154)
86	Korean Genome Project Submission ignored due to conflicting rows: Row 10645036 (NC_000004.12:62140652::A 904/1828) Row 10645037 (NC_000004.12:62140652::AA 343/1828) Row 10645038 (NC_000004.12:62140652::AAA 223/1828)...	-	Apr 26, 2020 (154)
87	Korean Genome Project Submission ignored due to conflicting rows: Row 10645036 (NC_000004.12:62140652::A 904/1828) Row 10645037 (NC_000004.12:62140652::AA 343/1828) Row 10645038 (NC_000004.12:62140652::AAA 223/1828)...	-	Apr 26, 2020 (154)
88	Northern Sweden Submission ignored due to conflicting rows: Row 4473621 (NC_000004.11:63006370::A 264/498) Row 4473622 (NC_000004.11:63006370::AA 139/498) Row 4473623 (NC_000004.11:63006370::AAA 47/498)...	-	Jul 13, 2019 (153)
89	Northern Sweden Submission ignored due to conflicting rows: Row 4473621 (NC_000004.11:63006370::A 264/498) Row 4473622 (NC_000004.11:63006370::AA 139/498) Row 4473623 (NC_000004.11:63006370::AAA 47/498)...	-	Jul 13, 2019 (153)
90	Northern Sweden Submission ignored due to conflicting rows: Row 4473621 (NC_000004.11:63006370::A 264/498) Row 4473622 (NC_000004.11:63006370::AA 139/498) Row 4473623 (NC_000004.11:63006370::AAA 47/498)...	-	Jul 13, 2019 (153)
91	Northern Sweden Submission ignored due to conflicting rows: Row 4473621 (NC_000004.11:63006370::A 264/498) Row 4473622 (NC_000004.11:63006370::AA 139/498) Row 4473623 (NC_000004.11:63006370::AAA 47/498)...	-	Jul 13, 2019 (153)
92	8.3KJPN Submission ignored due to conflicting rows: Row 23881082 (NC_000004.11:63006370::A 9285/16750) Row 23881083 (NC_000004.11:63006370::AA 1993/16750) Row 23881084 (NC_000004.11:63006370::AAA 2691/16750)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 23881082 (NC_000004.11:63006370::A 9285/16750) Row 23881083 (NC_000004.11:63006370::AA 1993/16750) Row 23881084 (NC_000004.11:63006370::AAA 2691/16750)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 23881082 (NC_000004.11:63006370::A 9285/16750) Row 23881083 (NC_000004.11:63006370::AA 1993/16750) Row 23881084 (NC_000004.11:63006370::AAA 2691/16750)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 23881082 (NC_000004.11:63006370::A 9285/16750) Row 23881083 (NC_000004.11:63006370::AA 1993/16750) Row 23881084 (NC_000004.11:63006370::AAA 2691/16750)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 23881082 (NC_000004.11:63006370::A 9285/16750) Row 23881083 (NC_000004.11:63006370::AA 1993/16750) Row 23881084 (NC_000004.11:63006370::AAA 2691/16750)...	-	Apr 26, 2021 (155)
97	14KJPN Submission ignored due to conflicting rows: Row 34148172 (NC_000004.12:62140652::AAA 4620/28256) Row 34148173 (NC_000004.12:62140652::A 15558/28256) Row 34148174 (NC_000004.12:62140652::AA 3392/28256)...	-	Oct 17, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 34148172 (NC_000004.12:62140652::AAA 4620/28256) Row 34148173 (NC_000004.12:62140652::A 15558/28256) Row 34148174 (NC_000004.12:62140652::AA 3392/28256)...	-	Oct 17, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 34148172 (NC_000004.12:62140652::AAA 4620/28256) Row 34148173 (NC_000004.12:62140652::A 15558/28256) Row 34148174 (NC_000004.12:62140652::AA 3392/28256)...	-	Oct 17, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 34148172 (NC_000004.12:62140652::AAA 4620/28256) Row 34148173 (NC_000004.12:62140652::A 15558/28256) Row 34148174 (NC_000004.12:62140652::AA 3392/28256)...	-	Oct 17, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 34148172 (NC_000004.12:62140652::AAA 4620/28256) Row 34148173 (NC_000004.12:62140652::A 15558/28256) Row 34148174 (NC_000004.12:62140652::AA 3392/28256)...	-	Oct 17, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 34148172 (NC_000004.12:62140652::AAA 4620/28256) Row 34148173 (NC_000004.12:62140652::A 15558/28256) Row 34148174 (NC_000004.12:62140652::AA 3392/28256)...	-	Oct 17, 2022 (156)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 11857275 (NC_000004.11:63006370::AA 854/3708) Row 11857276 (NC_000004.11:63006370::A 1909/3708) Row 11857277 (NC_000004.11:63006370::AAA 932/3708)	-	Oct 12, 2018 (152)
104	UK 10K study - Twins Submission ignored due to conflicting rows: Row 11857275 (NC_000004.11:63006370::AA 854/3708) Row 11857276 (NC_000004.11:63006370::A 1909/3708) Row 11857277 (NC_000004.11:63006370::AAA 932/3708)	-	Oct 12, 2018 (152)
105	UK 10K study - Twins Submission ignored due to conflicting rows: Row 11857275 (NC_000004.11:63006370::AA 854/3708) Row 11857276 (NC_000004.11:63006370::A 1909/3708) Row 11857277 (NC_000004.11:63006370::AAA 932/3708)	-	Oct 12, 2018 (152)
106	ALFA	NC_000004.12 - 62140653	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)
rs58581525	May 15, 2013 (138)
rs72400802	May 11, 2012 (137)
rs139922606	May 11, 2012 (137)
rs150752851	Oct 04, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4112055443	NC_000004.12:62140652:AA:	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3712138884, ss4112055442, ss5700311071	NC_000004.12:62140652:A:	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss256014631	NC_000004.10:62688965::A	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss288530605	NC_000004.10:62688979::A	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
21314243, ss1372233439, ss1704178092, ss1704178822, ss2994772242, ss3731188756, ss3784725524, ss3790181687, ss3795056795, ss3828564254, ss3837719942, ss5165911775, ss5507532294, ss5844057678	NC_000004.11:63006370::A	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3804988960, ss3954267035, ss4112055433, ss5259357245, ss5458098542, ss5700311069	NC_000004.12:62140652::A	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3712138883	NC_000004.12:62140653::A	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss295167927	NC_000004.10:62688978::AA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss666260500, ss1536409287, ss1704178090, ss1704178819, ss2994772243, ss3731188757, ss5165911776, ss5844057679	NC_000004.11:63006370::AA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3647740662, ss3954267036, ss4112055434, ss5259357246, ss5458098543, ss5700311070	NC_000004.12:62140652::AA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3712138882	NC_000004.12:62140653::AA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss80877043, ss95356365	NT_022778.16:3217051::AA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1704178093, ss1704178825, ss2994772244, ss3731188758, ss5165911777, ss5844057680	NC_000004.11:63006370::AAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3954267037, ss4112055435, ss5259357247, ss5458098544, ss5700311068	NC_000004.12:62140652::AAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3712138881	NC_000004.12:62140653::AAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4279539	NT_022778.16:3217037::AAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5165911778	NC_000004.11:63006370::AAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3954267039, ss4112055436, ss5259357248, ss5458098545, ss5700311072	NC_000004.12:62140652::AAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5165911779	NC_000004.11:63006370::AAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3954267038, ss4112055437, ss5259357249, ss5700311073	NC_000004.12:62140652::AAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4649010661	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4112055438	NC_000004.12:62140652::AAAAAAAAAAA… NC_000004.12:62140652::AAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3731188759	NC_000004.11:63006370::AAAAAAAAAAA… NC_000004.11:63006370::AAAAAAAAAAAAAAA	NC_000004.12:62140652:AAAAAAAAAAAA… NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs3048332

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

rs3048332