Name: rs67780786
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.

rs67780786

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:125024259-125024268 (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(C)₄ / delCCC / delCC / delC / …
del(C)₄ / delCCC / delCC / delC / dupC / dupCC / dupCCC / dup(C)₄ / dup(C)₅ / dup(C)₆ / dup(C)₇ / dup(C)₈ / dup(C)₉ / dup(C)₁₀ / ins(C)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: delCC=0.2054 (1507/7336, ALFA)
(C)₁₀=0.4399 (2203/5008, 1000G)
delCC=0.3538 (1462/4132, Estonian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BRI3BP : 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	7336	CCCCCCCCCC=0.7699	CCCCCCC=0.0014, CCCCCCCC=0.2054, CCCCCCCCCCC=0.0233, CCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000	0.660755	0.077231	0.262014	32
European	Sub	6852	CCCCCCCCCC=0.7539	CCCCCCC=0.0015, CCCCCCCC=0.2196, CCCCCCCCCCC=0.0250, CCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000	0.63614	0.082975	0.280885	32
African	Sub	188	CCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	CCCCCCCCCC=1.0	CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
African American	Sub	180	CCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	24	CCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	CCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	CCCCCCCCCC=1.0	CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	26	CCCCCCCCCC=1.00	CCCCCCC=0.00, CCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	144	CCCCCCCCCC=1.000	CCCCCCC=0.000, CCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	10	CCCCCCCCCC=1.0	CCCCCCC=0.0, CCCCCCCC=0.0, CCCCCCCCCCC=0.0, CCCCCCCCC=0.0, CCCCCCCCCCCC=0.0, CCCCCCCCCCCCC=0.0	1.0	0.0	0.0	N/A
Other	Sub	92	CCCCCCCCCC=0.98	CCCCCCC=0.00, CCCCCCCC=0.02, CCCCCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00	0.956522	0.0	0.043478	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	7336	(C)₁₀=0.7699	delCCC=0.0014, delCC=0.2054, delC=0.0000, dupC=0.0233, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator	European	Sub	6852	(C)₁₀=0.7539	delCCC=0.0015, delCC=0.2196, delC=0.0000, dupC=0.0250, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator	African	Sub	188	(C)₁₀=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Latin American 2	Sub	144	(C)₁₀=1.000	delCCC=0.000, delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Other	Sub	92	(C)₁₀=0.98	delCCC=0.00, delCC=0.02, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	26	(C)₁₀=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	Asian	Sub	24	(C)₁₀=1.00	delCCC=0.00, delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Allele Frequency Aggregator	South Asian	Sub	10	(C)₁₀=1.0	delCCC=0.0, delCC=0.0, delC=0.0, dupC=0.0, dupCC=0.0, dupCCC=0.0
1000Genomes	Global	Study-wide	5008	(C)₁₀=0.4399	delCC=0.5601
1000Genomes	African	Sub	1322	(C)₁₀=0.1831	delCC=0.8169
1000Genomes	East Asian	Sub	1008	(C)₁₀=0.4960	delCC=0.5040
1000Genomes	Europe	Sub	1006	(C)₁₀=0.6233	delCC=0.3767
1000Genomes	South Asian	Sub	978	(C)₁₀=0.520	delCC=0.480
1000Genomes	American	Sub	694	(C)₁₀=0.468	delCC=0.532
Genetic variation in the Estonian population	Estonian	Study-wide	4132	(C)₁₀=0.6462	delCC=0.3538

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 12	NC_000012.12:g.125024265_125024268del
GRCh38.p14 chr 12	NC_000012.12:g.125024266_125024268del
GRCh38.p14 chr 12	NC_000012.12:g.125024267_125024268del
GRCh38.p14 chr 12	NC_000012.12:g.125024268del
GRCh38.p14 chr 12	NC_000012.12:g.125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024267_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024266_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024265_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024264_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024263_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024262_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024261_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024260_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024259_125024268dup
GRCh38.p14 chr 12	NC_000012.12:g.125024268_125024269insCCCCCCCCCCCCC
GRCh37.p13 chr 12	NC_000012.11:g.125508811_125508814del
GRCh37.p13 chr 12	NC_000012.11:g.125508812_125508814del
GRCh37.p13 chr 12	NC_000012.11:g.125508813_125508814del
GRCh37.p13 chr 12	NC_000012.11:g.125508814del
GRCh37.p13 chr 12	NC_000012.11:g.125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508813_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508812_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508811_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508810_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508809_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508808_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508807_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508806_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508805_125508814dup
GRCh37.p13 chr 12	NC_000012.11:g.125508814_125508815insCCCCCCCCCCCCC

Gene: BRI3BP, BRI3 binding protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRI3BP transcript	NM_080626.6:c.317-726_317… NM_080626.6:c.317-726_317-723del	N/A	Intron Variant
BRI3BP transcript variant X1	XM_011537940.3:c.316+1162… XM_011537940.3:c.316+11629_316+11632del	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	(C)₁₀=	del(C)₄	delCCC	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄	dup(C)₅	dup(C)₆	dup(C)₇	dup(C)₈	dup(C)₉	dup(C)₁₀	ins(C)₁₃
GRCh38.p14 chr 12	NC_000012.12:g.125024259_125024268=	NC_000012.12:g.125024265_125024268del	NC_000012.12:g.125024266_125024268del	NC_000012.12:g.125024267_125024268del	NC_000012.12:g.125024268del	NC_000012.12:g.125024268dup	NC_000012.12:g.125024267_125024268dup	NC_000012.12:g.125024266_125024268dup	NC_000012.12:g.125024265_125024268dup	NC_000012.12:g.125024264_125024268dup	NC_000012.12:g.125024263_125024268dup	NC_000012.12:g.125024262_125024268dup	NC_000012.12:g.125024261_125024268dup	NC_000012.12:g.125024260_125024268dup	NC_000012.12:g.125024259_125024268dup	NC_000012.12:g.125024268_125024269insCCCCCCCCCCCCC
GRCh37.p13 chr 12	NC_000012.11:g.125508805_125508814=	NC_000012.11:g.125508811_125508814del	NC_000012.11:g.125508812_125508814del	NC_000012.11:g.125508813_125508814del	NC_000012.11:g.125508814del	NC_000012.11:g.125508814dup	NC_000012.11:g.125508813_125508814dup	NC_000012.11:g.125508812_125508814dup	NC_000012.11:g.125508811_125508814dup	NC_000012.11:g.125508810_125508814dup	NC_000012.11:g.125508809_125508814dup	NC_000012.11:g.125508808_125508814dup	NC_000012.11:g.125508807_125508814dup	NC_000012.11:g.125508806_125508814dup	NC_000012.11:g.125508805_125508814dup	NC_000012.11:g.125508814_125508815insCCCCCCCCCCCCC
BRI3BP transcript	NM_080626.5:c.317-732=	NM_080626.5:c.317-726_317-723del	NM_080626.5:c.317-725_317-723del	NM_080626.5:c.317-724_317-723del	NM_080626.5:c.317-723del	NM_080626.5:c.317-723dup	NM_080626.5:c.317-724_317-723dup	NM_080626.5:c.317-725_317-723dup	NM_080626.5:c.317-726_317-723dup	NM_080626.5:c.317-727_317-723dup	NM_080626.5:c.317-728_317-723dup	NM_080626.5:c.317-729_317-723dup	NM_080626.5:c.317-730_317-723dup	NM_080626.5:c.317-731_317-723dup	NM_080626.5:c.317-732_317-723dup	NM_080626.5:c.317-723_317-722insCCCCCCCCCCCCC
BRI3BP transcript	NM_080626.6:c.317-732=	NM_080626.6:c.317-726_317-723del	NM_080626.6:c.317-725_317-723del	NM_080626.6:c.317-724_317-723del	NM_080626.6:c.317-723del	NM_080626.6:c.317-723dup	NM_080626.6:c.317-724_317-723dup	NM_080626.6:c.317-725_317-723dup	NM_080626.6:c.317-726_317-723dup	NM_080626.6:c.317-727_317-723dup	NM_080626.6:c.317-728_317-723dup	NM_080626.6:c.317-729_317-723dup	NM_080626.6:c.317-730_317-723dup	NM_080626.6:c.317-731_317-723dup	NM_080626.6:c.317-732_317-723dup	NM_080626.6:c.317-723_317-722insCCCCCCCCCCCCC
BRI3BP transcript variant X1	XM_011537940.3:c.316+11623=	XM_011537940.3:c.316+11629_316+11632del	XM_011537940.3:c.316+11630_316+11632del	XM_011537940.3:c.316+11631_316+11632del	XM_011537940.3:c.316+11632del	XM_011537940.3:c.316+11632dup	XM_011537940.3:c.316+11631_316+11632dup	XM_011537940.3:c.316+11630_316+11632dup	XM_011537940.3:c.316+11629_316+11632dup	XM_011537940.3:c.316+11628_316+11632dup	XM_011537940.3:c.316+11627_316+11632dup	XM_011537940.3:c.316+11626_316+11632dup	XM_011537940.3:c.316+11625_316+11632dup	XM_011537940.3:c.316+11624_316+11632dup	XM_011537940.3:c.316+11623_316+11632dup	XM_011537940.3:c.316+11632_316+11633insCCCCCCCCCCCCC

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#.

76 SubSNP, 34 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss97277589	Feb 13, 2009 (131)
2	BL	ss256139905	May 09, 2011 (137)
3	GMI	ss287899291	Mar 15, 2016 (147)
4	GMI	ss289158225	May 04, 2012 (137)
5	1000GENOMES	ss327491608	May 09, 2011 (137)
6	1000GENOMES	ss327590527	May 09, 2011 (137)
7	1000GENOMES	ss328041971	May 09, 2011 (137)
8	LUNTER	ss552260979	Apr 25, 2013 (138)
9	LUNTER	ss552560105	Apr 25, 2013 (138)
10	LUNTER	ss553506795	Apr 25, 2013 (138)
11	SSMP	ss664098722	Apr 01, 2015 (144)
12	BILGI_BIOE	ss666587271	Apr 25, 2013 (138)
13	1000GENOMES	ss1372759181	Aug 21, 2014 (142)
14	DDI	ss1536746575	Apr 01, 2015 (144)
15	SWEGEN	ss3010516382	Nov 08, 2017 (151)
16	BEROUKHIMLAB	ss3644351204	Oct 12, 2018 (152)
17	BIOINF_KMB_FNS_UNIBA	ss3645282120	Oct 12, 2018 (152)
18	URBANLAB	ss3649942385	Oct 12, 2018 (152)
19	EGCUT_WGS	ss3677816026	Jul 13, 2019 (153)
20	EVA_DECODE	ss3694675549	Jul 13, 2019 (153)
21	EVA_DECODE	ss3694675550	Jul 13, 2019 (153)
22	EVA_DECODE	ss3694675551	Jul 13, 2019 (153)
23	EVA_DECODE	ss3694675552	Jul 13, 2019 (153)
24	EVA_DECODE	ss3694675553	Jul 13, 2019 (153)
25	ACPOP	ss3739470297	Jul 13, 2019 (153)
26	ACPOP	ss3739470298	Jul 13, 2019 (153)
27	PACBIO	ss3787364471	Jul 13, 2019 (153)
28	PACBIO	ss3792441591	Jul 13, 2019 (153)
29	PACBIO	ss3797324791	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3816416304	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3816416305	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3816416306	Jul 13, 2019 (153)
33	EVA	ss3833378882	Apr 27, 2020 (154)
34	EVA	ss3840259991	Apr 27, 2020 (154)
35	EVA	ss3845749152	Apr 27, 2020 (154)
36	KOGIC	ss3972955449	Apr 27, 2020 (154)
37	KOGIC	ss3972955450	Apr 27, 2020 (154)
38	KOGIC	ss3972955451	Apr 27, 2020 (154)
39	KOGIC	ss3972955452	Apr 27, 2020 (154)
40	KOGIC	ss3972955453	Apr 27, 2020 (154)
41	GNOMAD	ss4260804579	Apr 26, 2021 (155)
42	GNOMAD	ss4260804580	Apr 26, 2021 (155)
43	GNOMAD	ss4260804581	Apr 26, 2021 (155)
44	GNOMAD	ss4260804582	Apr 26, 2021 (155)
45	GNOMAD	ss4260804583	Apr 26, 2021 (155)
46	GNOMAD	ss4260804584	Apr 26, 2021 (155)
47	GNOMAD	ss4260804585	Apr 26, 2021 (155)
48	GNOMAD	ss4260804586	Apr 26, 2021 (155)
49	GNOMAD	ss4260804587	Apr 26, 2021 (155)
50	GNOMAD	ss4260804588	Apr 26, 2021 (155)
51	GNOMAD	ss4260804589	Apr 26, 2021 (155)
52	GNOMAD	ss4260804591	Apr 26, 2021 (155)
53	GNOMAD	ss4260804592	Apr 26, 2021 (155)
54	GNOMAD	ss4260804593	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5208645717	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5208645718	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5208645719	Apr 26, 2021 (155)
58	TOMMO_GENOMICS	ss5208645720	Apr 26, 2021 (155)
59	TOMMO_GENOMICS	ss5208645721	Apr 26, 2021 (155)
60	1000G_HIGH_COVERAGE	ss5292595108	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5292595109	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5292595110	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5292595111	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5292595112	Oct 16, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5292595113	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5487160760	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5487160761	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5487160762	Oct 16, 2022 (156)
69	HUGCELL_USP	ss5487160763	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5759122859	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5759122860	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5759122861	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5759122862	Oct 16, 2022 (156)
74	TOMMO_GENOMICS	ss5759122863	Oct 16, 2022 (156)
75	EVA	ss5838654241	Oct 16, 2022 (156)
76	EVA	ss5906429165	Oct 16, 2022 (156)
77	1000Genomes	NC_000012.11 - 125508805	Oct 12, 2018 (152)
78	Genetic variation in the Estonian population	NC_000012.11 - 125508805	Oct 12, 2018 (152)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422274883 (NC_000012.12:125024258::C 3744/124520) Row 422274884 (NC_000012.12:125024258::CC 76/125594) Row 422274885 (NC_000012.12:125024258::CCC 10/125620)...	-	Apr 26, 2021 (155)
93	Korean Genome Project Submission ignored due to conflicting rows: Row 29333450 (NC_000012.12:125024260::C 120/1832) Row 29333451 (NC_000012.12:125024260::CC 52/1832) Row 29333452 (NC_000012.12:125024258:CC: 715/1832)...	-	Apr 27, 2020 (154)
94	Korean Genome Project Submission ignored due to conflicting rows: Row 29333450 (NC_000012.12:125024260::C 120/1832) Row 29333451 (NC_000012.12:125024260::CC 52/1832) Row 29333452 (NC_000012.12:125024258:CC: 715/1832)...	-	Apr 27, 2020 (154)
95	Korean Genome Project Submission ignored due to conflicting rows: Row 29333450 (NC_000012.12:125024260::C 120/1832) Row 29333451 (NC_000012.12:125024260::CC 52/1832) Row 29333452 (NC_000012.12:125024258:CC: 715/1832)...	-	Apr 27, 2020 (154)
96	Korean Genome Project Submission ignored due to conflicting rows: Row 29333450 (NC_000012.12:125024260::C 120/1832) Row 29333451 (NC_000012.12:125024260::CC 52/1832) Row 29333452 (NC_000012.12:125024258:CC: 715/1832)...	-	Apr 27, 2020 (154)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 29333450 (NC_000012.12:125024260::C 120/1832) Row 29333451 (NC_000012.12:125024260::CC 52/1832) Row 29333452 (NC_000012.12:125024258:CC: 715/1832)...	-	Apr 27, 2020 (154)
98	Northern Sweden Submission ignored due to conflicting rows: Row 12755162 (NC_000012.11:125508804:CC: 206/600) Row 12755163 (NC_000012.11:125508804::C 25/600)	-	Jul 13, 2019 (153)
99	Northern Sweden Submission ignored due to conflicting rows: Row 12755162 (NC_000012.11:125508804:CC: 206/600) Row 12755163 (NC_000012.11:125508804::C 25/600)	-	Jul 13, 2019 (153)
100	8.3KJPN Submission ignored due to conflicting rows: Row 66615024 (NC_000012.11:125508804:CC: 6276/16566) Row 66615025 (NC_000012.11:125508804::C 1666/16566) Row 66615026 (NC_000012.11:125508804::CCC 59/16566)...	-	Apr 26, 2021 (155)
101	8.3KJPN Submission ignored due to conflicting rows: Row 66615024 (NC_000012.11:125508804:CC: 6276/16566) Row 66615025 (NC_000012.11:125508804::C 1666/16566) Row 66615026 (NC_000012.11:125508804::CCC 59/16566)...	-	Apr 26, 2021 (155)
102	8.3KJPN Submission ignored due to conflicting rows: Row 66615024 (NC_000012.11:125508804:CC: 6276/16566) Row 66615025 (NC_000012.11:125508804::C 1666/16566) Row 66615026 (NC_000012.11:125508804::CCC 59/16566)...	-	Apr 26, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 66615024 (NC_000012.11:125508804:CC: 6276/16566) Row 66615025 (NC_000012.11:125508804::C 1666/16566) Row 66615026 (NC_000012.11:125508804::CCC 59/16566)...	-	Apr 26, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 66615024 (NC_000012.11:125508804:CC: 6276/16566) Row 66615025 (NC_000012.11:125508804::C 1666/16566) Row 66615026 (NC_000012.11:125508804::CCC 59/16566)...	-	Apr 26, 2021 (155)
105	14KJPN Submission ignored due to conflicting rows: Row 92959963 (NC_000012.12:125024258:CC: 10436/27850) Row 92959964 (NC_000012.12:125024258::C 3004/27850) Row 92959965 (NC_000012.12:125024258::CC 751/27850)...	-	Oct 16, 2022 (156)
106	14KJPN Submission ignored due to conflicting rows: Row 92959963 (NC_000012.12:125024258:CC: 10436/27850) Row 92959964 (NC_000012.12:125024258::C 3004/27850) Row 92959965 (NC_000012.12:125024258::CC 751/27850)...	-	Oct 16, 2022 (156)
107	14KJPN Submission ignored due to conflicting rows: Row 92959963 (NC_000012.12:125024258:CC: 10436/27850) Row 92959964 (NC_000012.12:125024258::C 3004/27850) Row 92959965 (NC_000012.12:125024258::CC 751/27850)...	-	Oct 16, 2022 (156)
108	14KJPN Submission ignored due to conflicting rows: Row 92959963 (NC_000012.12:125024258:CC: 10436/27850) Row 92959964 (NC_000012.12:125024258::C 3004/27850) Row 92959965 (NC_000012.12:125024258::CC 751/27850)...	-	Oct 16, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 92959963 (NC_000012.12:125024258:CC: 10436/27850) Row 92959964 (NC_000012.12:125024258::C 3004/27850) Row 92959965 (NC_000012.12:125024258::CC 751/27850)...	-	Oct 16, 2022 (156)
110	ALFA	NC_000012.12 - 125024259	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)
rs67780787	Feb 27, 2009 (130)
rs71447028	Dec 02, 2009 (131)
rs140313345	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4260804593, ss5292595110, ss5487160762	NC_000012.12:125024258:CCCC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCC	(self)
ss3010516382	NC_000012.11:125508804:CCC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCC	(self)
ss3694675553, ss4260804592, ss5292595112	NC_000012.12:125024258:CCC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCC	(self)
1373218802	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCC	(self)
ss256139905, ss289158225, ss327491608, ss327590527, ss328041971, ss552260979, ss552560105, ss553506795	NC_000012.10:124074757:CC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
59865190, 23554274, ss664098722, ss666587271, ss1372759181, ss1536746575, ss3644351204, ss3677816026, ss3739470297, ss3787364471, ss3792441591, ss3797324791, ss3833378882, ss3840259991, ss5208645717, ss5838654241	NC_000012.11:125508804:CC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
ss3645282120, ss3649942385, ss3816416306, ss3845749152, ss3972955451, ss5292595108, ss5487160760, ss5759122859, ss5906429165	NC_000012.12:125024258:CC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
1373218802	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
ss3694675552	NC_000012.12:125024259:CC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
ss287899291	NT_009755.19:2928181:CC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
ss97277589	NT_009755.19:2928189:CC:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC	(self)
ss5208645721	NC_000012.11:125508804:C:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC	(self)
ss4260804591, ss5487160763, ss5759122863	NC_000012.12:125024258:C:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC	(self)
1373218802	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC	(self)
ss3972955452	NC_000012.12:125024259:C:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC	(self)
ss3694675551	NC_000012.12:125024260:C:	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC	(self)
ss3739470298, ss5208645718	NC_000012.11:125508804::C	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss4260804579, ss5292595109, ss5487160761, ss5759122860	NC_000012.12:125024258::C	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC	(self)
1373218802	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss3816416305, ss3972955449	NC_000012.12:125024260::C	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss3694675550	NC_000012.12:125024261::C	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss5208645720	NC_000012.11:125508804::CC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4260804580, ss5292595111, ss5759122861	NC_000012.12:125024258::CC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC	(self)
1373218802	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3816416304, ss3972955450	NC_000012.12:125024260::CC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3694675549	NC_000012.12:125024261::CC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss5208645719	NC_000012.11:125508804::CCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4260804581, ss5292595113, ss5759122862	NC_000012.12:125024258::CCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCC	(self)
1373218802	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss3972955453	NC_000012.12:125024260::CCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4260804582	NC_000012.12:125024258::CCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss4260804583	NC_000012.12:125024258::CCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss4260804584	NC_000012.12:125024258::CCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCC	(self)
ss4260804585	NC_000012.12:125024258::CCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCC	(self)
ss4260804586	NC_000012.12:125024258::CCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC	(self)
ss4260804587	NC_000012.12:125024258::CCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC	(self)
ss4260804588	NC_000012.12:125024258::CCCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC	(self)
ss4260804589	NC_000012.12:125024258::CCCCCCCCCC… NC_000012.12:125024258::CCCCCCCCCCCCC	NC_000012.12:125024258:CCCCCCCCCC:… NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC	(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 rs67780786

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

rs67780786