Name: rs3076071
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.

rs3076071

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99321651-99321659 (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: delCC / delC / dupC / dupCC / dupC…
delCC / delC / dupC / dupCC / dupCCC / dup(C)₅ / dup(C)₇ / dup(C)₈ / dup(C)₉
Variation Type: Indel Insertion and Deletion
Frequency: delC=0.2114 (1552/7340, ALFA)
(C)₉=0.2993 (1499/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADH1B : 2KB Upstream Variant
Publications: 1 citation
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	7340	CCCCCCCCC=0.7292	CCCCCCC=0.0000, CCCCCCCC=0.2114, CCCCCCCCCC=0.0505, CCCCCCCCCCC=0.0089, CCCCCCCCCCCC=0.0000	0.662643	0.092232	0.245125	32
European	Sub	6930	CCCCCCCCC=0.7140	CCCCCCC=0.0000, CCCCCCCC=0.2231, CCCCCCCCCC=0.0535, CCCCCCCCCCC=0.0094, CCCCCCCCCCCC=0.0000	0.64111	0.097819	0.261071	32
African	Sub	184	CCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	CCCCCCCCC=1.0	CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
African American	Sub	180	CCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	CCCCCCCCC=0	CCCCCCC=0, CCCCCCCC=0, CCCCCCCCCC=0, CCCCCCCCCCC=0, CCCCCCCCCCCC=0	0	0	0	N/A
East Asian	Sub	0	CCCCCCCCC=0	CCCCCCC=0, CCCCCCCC=0, CCCCCCCCCC=0, CCCCCCCCCCC=0, CCCCCCCCCCCC=0	0	0	0	N/A
Other Asian	Sub	0	CCCCCCCCC=0	CCCCCCC=0, CCCCCCCC=0, CCCCCCCCCC=0, CCCCCCCCCCC=0, CCCCCCCCCCCC=0	0	0	0	N/A
Latin American 1	Sub	22	CCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	104	CCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	8	CCCCCCCCC=1.0	CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Other	Sub	92	CCCCCCCCC=0.93	CCCCCCC=0.00, CCCCCCCC=0.07, CCCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00	0.913043	0.043478	0.043478	11

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	7340	(C)₉=0.7292	delCC=0.0000, delC=0.2114, dupC=0.0505, dupCC=0.0089, dupCCC=0.0000
Allele Frequency Aggregator	European	Sub	6930	(C)₉=0.7140	delCC=0.0000, delC=0.2231, dupC=0.0535, dupCC=0.0094, dupCCC=0.0000
Allele Frequency Aggregator	African	Sub	184	(C)₉=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Latin American 2	Sub	104	(C)₉=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Other	Sub	92	(C)₉=0.93	delCC=0.00, delC=0.07, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	22	(C)₉=1.00	delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	South Asian	Sub	8	(C)₉=1.0	delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0, dupCCC=0.0
Allele Frequency Aggregator	Asian	Sub	0	(C)₉=0	delCC=0, delC=0, dupC=0, dupCC=0, dupCCC=0
1000Genomes	Global	Study-wide	5008	(C)₉=0.2993	delC=0.7007
1000Genomes	African	Sub	1322	(C)₉=0.1755	delC=0.8245
1000Genomes	East Asian	Sub	1008	(C)₉=0.0804	delC=0.9196
1000Genomes	Europe	Sub	1006	(C)₉=0.5348	delC=0.4652
1000Genomes	South Asian	Sub	978	(C)₉=0.364	delC=0.636
1000Genomes	American	Sub	694	(C)₉=0.421	delC=0.579

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.99321658_99321659del
GRCh38.p14 chr 4	NC_000004.12:g.99321659del
GRCh38.p14 chr 4	NC_000004.12:g.99321659dup
GRCh38.p14 chr 4	NC_000004.12:g.99321658_99321659dup
GRCh38.p14 chr 4	NC_000004.12:g.99321657_99321659dup
GRCh38.p14 chr 4	NC_000004.12:g.99321655_99321659dup
GRCh38.p14 chr 4	NC_000004.12:g.99321653_99321659dup
GRCh38.p14 chr 4	NC_000004.12:g.99321652_99321659dup
GRCh38.p14 chr 4	NC_000004.12:g.99321651_99321659dup
GRCh37.p13 chr 4	NC_000004.11:g.100242815_100242816del
GRCh37.p13 chr 4	NC_000004.11:g.100242816del
GRCh37.p13 chr 4	NC_000004.11:g.100242816dup
GRCh37.p13 chr 4	NC_000004.11:g.100242815_100242816dup
GRCh37.p13 chr 4	NC_000004.11:g.100242814_100242816dup
GRCh37.p13 chr 4	NC_000004.11:g.100242812_100242816dup
GRCh37.p13 chr 4	NC_000004.11:g.100242810_100242816dup
GRCh37.p13 chr 4	NC_000004.11:g.100242809_100242816dup
GRCh37.p13 chr 4	NC_000004.11:g.100242808_100242816dup
ADH1B RefSeqGene	NG_011435.1:g.4764_4765del
ADH1B RefSeqGene	NG_011435.1:g.4765del
ADH1B RefSeqGene	NG_011435.1:g.4765dup
ADH1B RefSeqGene	NG_011435.1:g.4764_4765dup
ADH1B RefSeqGene	NG_011435.1:g.4763_4765dup
ADH1B RefSeqGene	NG_011435.1:g.4761_4765dup
ADH1B RefSeqGene	NG_011435.1:g.4759_4765dup
ADH1B RefSeqGene	NG_011435.1:g.4758_4765dup
ADH1B RefSeqGene	NG_011435.1:g.4757_4765dup
LOC111216273 genomic region	NG_055569.1:g.392_393del
LOC111216273 genomic region	NG_055569.1:g.393del
LOC111216273 genomic region	NG_055569.1:g.393dup
LOC111216273 genomic region	NG_055569.1:g.392_393dup
LOC111216273 genomic region	NG_055569.1:g.391_393dup
LOC111216273 genomic region	NG_055569.1:g.389_393dup
LOC111216273 genomic region	NG_055569.1:g.387_393dup
LOC111216273 genomic region	NG_055569.1:g.386_393dup
LOC111216273 genomic region	NG_055569.1:g.385_393dup

Gene: ADH1B, alcohol dehydrogenase 1B (class I), beta polypeptide (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
ADH1B transcript variant 1	NM_000668.6:c.	N/A	Upstream Transcript Variant
ADH1B transcript variant 2	NM_001286650.2:c.	N/A	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	(C)₉=	delCC	delC	dupC	dupCC	dupCCC	dup(C)₅	dup(C)₇	dup(C)₈	dup(C)₉
GRCh38.p14 chr 4	NC_000004.12:g.99321651_99321659=	NC_000004.12:g.99321658_99321659del	NC_000004.12:g.99321659del	NC_000004.12:g.99321659dup	NC_000004.12:g.99321658_99321659dup	NC_000004.12:g.99321657_99321659dup	NC_000004.12:g.99321655_99321659dup	NC_000004.12:g.99321653_99321659dup	NC_000004.12:g.99321652_99321659dup	NC_000004.12:g.99321651_99321659dup
GRCh37.p13 chr 4	NC_000004.11:g.100242808_100242816=	NC_000004.11:g.100242815_100242816del	NC_000004.11:g.100242816del	NC_000004.11:g.100242816dup	NC_000004.11:g.100242815_100242816dup	NC_000004.11:g.100242814_100242816dup	NC_000004.11:g.100242812_100242816dup	NC_000004.11:g.100242810_100242816dup	NC_000004.11:g.100242809_100242816dup	NC_000004.11:g.100242808_100242816dup
ADH1B RefSeqGene	NG_011435.1:g.4757_4765=	NG_011435.1:g.4764_4765del	NG_011435.1:g.4765del	NG_011435.1:g.4765dup	NG_011435.1:g.4764_4765dup	NG_011435.1:g.4763_4765dup	NG_011435.1:g.4761_4765dup	NG_011435.1:g.4759_4765dup	NG_011435.1:g.4758_4765dup	NG_011435.1:g.4757_4765dup
LOC111216273 genomic region	NG_055569.1:g.385_393=	NG_055569.1:g.392_393del	NG_055569.1:g.393del	NG_055569.1:g.393dup	NG_055569.1:g.392_393dup	NG_055569.1:g.391_393dup	NG_055569.1:g.389_393dup	NG_055569.1:g.387_393dup	NG_055569.1:g.386_393dup	NG_055569.1:g.385_393dup

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#.

66 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4307486	Mar 15, 2016 (147)
2	DEVINE_LAB	ss8127032	Mar 15, 2016 (147)
3	DEVINE_LAB	ss8127033	Mar 15, 2016 (147)
4	HGSV	ss81028821	Dec 14, 2007 (130)
5	HGSV	ss82517813	Dec 14, 2007 (130)
6	HUMANGENOME_JCVI	ss95363677	Feb 04, 2009 (130)
7	HUMANGENOME_JCVI	ss98914717	Feb 04, 2009 (130)
8	BGI	ss104752239	Feb 13, 2009 (137)
9	BUSHMAN	ss193752057	Jul 04, 2010 (132)
10	GMI	ss287753514	May 09, 2011 (134)
11	GMI	ss288561735	May 04, 2012 (137)
12	PJP	ss295179492	May 09, 2011 (134)
13	PJP	ss295179493	May 09, 2011 (137)
14	1000GENOMES	ss326552518	May 09, 2011 (137)
15	1000GENOMES	ss326585284	May 09, 2011 (137)
16	1000GENOMES	ss326760338	May 09, 2011 (137)
17	LUNTER	ss551393963	Apr 25, 2013 (138)
18	LUNTER	ss551521279	Apr 25, 2013 (138)
19	LUNTER	ss553150306	Apr 25, 2013 (138)
20	TISHKOFF	ss554110950	Apr 25, 2013 (138)
21	TISHKOFF	ss557340702	Apr 25, 2013 (138)
22	SSMP	ss663439702	Apr 01, 2015 (144)
23	BILGI_BIOE	ss666270647	Apr 25, 2013 (138)
24	1000GENOMES	ss1372538001	Aug 21, 2014 (142)
25	DDI	ss1536419973	Apr 01, 2015 (144)
26	HAMMER_LAB	ss1801910155	Sep 08, 2015 (146)
27	BEROUKHIMLAB	ss3644160774	Oct 12, 2018 (152)
28	BIOINF_KMB_FNS_UNIBA	ss3645814330	Oct 12, 2018 (152)
29	URBANLAB	ss3647802777	Oct 12, 2018 (152)
30	EVA_DECODE	ss3712657864	Jul 13, 2019 (153)
31	EVA_DECODE	ss3712657865	Jul 13, 2019 (153)
32	EVA_DECODE	ss3712657866	Jul 13, 2019 (153)
33	ACPOP	ss3731422262	Jul 13, 2019 (153)
34	ACPOP	ss3731422264	Jul 13, 2019 (153)
35	ACPOP	ss3731422265	Jul 13, 2019 (153)
36	PACBIO	ss3784802109	Jul 13, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3805315994	Jul 13, 2019 (153)
38	EVA	ss3828703821	Apr 26, 2020 (154)
39	EVA	ss3837793001	Apr 26, 2020 (154)
40	EVA	ss3843231398	Apr 26, 2020 (154)
41	GNOMAD	ss4116739047	Apr 26, 2021 (155)
42	GNOMAD	ss4116739048	Apr 26, 2021 (155)
43	GNOMAD	ss4116739049	Apr 26, 2021 (155)
44	GNOMAD	ss4116739050	Apr 26, 2021 (155)
45	GNOMAD	ss4116739051	Apr 26, 2021 (155)
46	GNOMAD	ss4116739052	Apr 26, 2021 (155)
47	GNOMAD	ss4116739053	Apr 26, 2021 (155)
48	GNOMAD	ss4116739055	Apr 26, 2021 (155)
49	GNOMAD	ss4116739056	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5167080519	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5167080520	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5167080521	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5167080522	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5260290113	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5458932475	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5458932476	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5458932478	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5701812401	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5701812402	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5701812404	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5701812405	Oct 13, 2022 (156)
62	EVA	ss5844424964	Oct 13, 2022 (156)
63	EVA	ss5844424965	Oct 13, 2022 (156)
64	EVA	ss5854356186	Oct 13, 2022 (156)
65	EVA	ss5864679085	Oct 13, 2022 (156)
66	EVA	ss5980240242	Oct 13, 2022 (156)
67	1000Genomes	NC_000004.11 - 100242808	Oct 12, 2018 (152)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 158849114 (NC_000004.12:99321650::C 13577/122898) Row 158849115 (NC_000004.12:99321650::CC 1011/124888) Row 158849116 (NC_000004.12:99321650::CCC 5/125558)...	-	Apr 26, 2021 (155)
77	Northern Sweden Submission ignored due to conflicting rows: Row 4707127 (NC_000004.11:100242807:C: 182/600) Row 4707129 (NC_000004.11:100242807::C 54/600) Row 4707130 (NC_000004.11:100242807::CC 3/600)	-	Jul 13, 2019 (153)
78	Northern Sweden Submission ignored due to conflicting rows: Row 4707127 (NC_000004.11:100242807:C: 182/600) Row 4707129 (NC_000004.11:100242807::C 54/600) Row 4707130 (NC_000004.11:100242807::CC 3/600)	-	Jul 13, 2019 (153)
79	Northern Sweden Submission ignored due to conflicting rows: Row 4707127 (NC_000004.11:100242807:C: 182/600) Row 4707129 (NC_000004.11:100242807::C 54/600) Row 4707130 (NC_000004.11:100242807::CC 3/600)	-	Jul 13, 2019 (153)
80	8.3KJPN Submission ignored due to conflicting rows: Row 25049826 (NC_000004.11:100242807:C: 15173/16760) Row 25049827 (NC_000004.11:100242807::C 910/16760) Row 25049828 (NC_000004.11:100242807:CC: 1/16760)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 25049826 (NC_000004.11:100242807:C: 15173/16760) Row 25049827 (NC_000004.11:100242807::C 910/16760) Row 25049828 (NC_000004.11:100242807:CC: 1/16760)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 25049826 (NC_000004.11:100242807:C: 15173/16760) Row 25049827 (NC_000004.11:100242807::C 910/16760) Row 25049828 (NC_000004.11:100242807:CC: 1/16760)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 25049826 (NC_000004.11:100242807:C: 15173/16760) Row 25049827 (NC_000004.11:100242807::C 910/16760) Row 25049828 (NC_000004.11:100242807:CC: 1/16760)...	-	Apr 26, 2021 (155)
84	14KJPN Submission ignored due to conflicting rows: Row 35649505 (NC_000004.12:99321650:C: 25414/28258) Row 35649506 (NC_000004.12:99321650::C 1540/28258) Row 35649508 (NC_000004.12:99321650::CC 58/28258)...	-	Oct 13, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 35649505 (NC_000004.12:99321650:C: 25414/28258) Row 35649506 (NC_000004.12:99321650::C 1540/28258) Row 35649508 (NC_000004.12:99321650::CC 58/28258)...	-	Oct 13, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 35649505 (NC_000004.12:99321650:C: 25414/28258) Row 35649506 (NC_000004.12:99321650::C 1540/28258) Row 35649508 (NC_000004.12:99321650::CC 58/28258)...	-	Oct 13, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 35649505 (NC_000004.12:99321650:C: 25414/28258) Row 35649506 (NC_000004.12:99321650::C 1540/28258) Row 35649508 (NC_000004.12:99321650::CC 58/28258)...	-	Oct 13, 2022 (156)
88	ALFA	NC_000004.12 - 99321651	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)
rs11439242	Sep 24, 2004 (123)
rs33919941	May 23, 2006 (127)
rs72599889	May 11, 2012 (137)
rs139203169	May 04, 2012 (137)
rs150354313	May 11, 2012 (137)
rs371605610	May 13, 2013 (138)
rs869082560	Jul 19, 2016 (147)
rs33956728	May 23, 2006 (127)
rs57375951	May 23, 2008 (130)
rs376738405	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5167080521	NC_000004.11:100242807:CC:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCC	(self)
ss4116739056, ss5701812405	NC_000004.12:99321650:CC:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCC	(self)
3314549227	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCC	(self)
ss81028821, ss82517813	NC_000004.9:100599993:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss288561735, ss295179492, ss326552518, ss326585284, ss326760338, ss551393963, ss551521279, ss553150306	NC_000004.10:100461830:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss295179493	NC_000004.10:100461838:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
22424039, ss663439702, ss666270647, ss1372538001, ss1536419973, ss1801910155, ss3644160774, ss3731422262, ss3784802109, ss3828703821, ss3837793001, ss5167080519, ss5844424964, ss5980240242	NC_000004.11:100242807:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss554110950	NC_000004.11:100242815:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss3645814330, ss3647802777, ss3712657866, ss3805315994, ss3843231398, ss4116739055, ss5260290113, ss5458932475, ss5701812401, ss5854356186, ss5864679085	NC_000004.12:99321650:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
3314549227	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss8127032, ss98914717, ss287753514	NT_016354.19:24790528:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss104752239	NT_016354.19:24790535:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss4307486, ss8127033, ss95363677	NT_016354.19:24790536:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss193752057	NT_016354.20:40400269:C:	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCC	(self)
ss3731422264, ss5167080520, ss5844424965	NC_000004.11:100242807::C	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	(self)
ss557340702	NC_000004.11:100242816::C	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	(self)
ss4116739047, ss5458932478, ss5701812402	NC_000004.12:99321650::C	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	(self)
3314549227	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	(self)
ss3712657865	NC_000004.12:99321651::C	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	(self)
ss4307486	NT_016354.19:24790536:C:CC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCC	(self)
ss3731422265, ss5167080522	NC_000004.11:100242807::CC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCC	(self)
ss4116739048, ss5458932476, ss5701812404	NC_000004.12:99321650::CC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCC	(self)
3314549227	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCC	(self)
ss3712657864	NC_000004.12:99321651::CC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCC	(self)
ss4116739049	NC_000004.12:99321650::CCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCC	(self)
3314549227	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCC	(self)
ss4116739050	NC_000004.12:99321650::CCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss4116739051	NC_000004.12:99321650::CCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
ss4116739052	NC_000004.12:99321650::CCCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCCCCC	(self)
ss4116739053	NC_000004.12:99321650::CCCCCCCCC	NC_000004.12:99321650:CCCCCCCCC:CC… NC_000004.12:99321650:CCCCCCCCC:CCCCCCCCCCCCCCCCCC	(self)

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

1 citation for rs3076071

PMID	Title	Author	Year	Journal
21168396	Variation in the ADH1B proximal promoter affects expression.	Pochareddy S et al.	2011	Chemico-biological interactions

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

rs3076071