Name: rs55938703
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.

rs55938703

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:125016356-125016369 (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(T)₆ / delTT / delT / dupT / du…
del(T)₆ / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.1508 (972/6444, ALFA)
dupT=0.4235 (2121/5008, 1000G)

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	6444	TTTTTTTTTTTTTT=0.7258	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.1508, TTTTTTTTTTTTTTTT=0.1198, TTTTTTTTTTTTTTTTT=0.0036, TTTTTTTTTTTTTTTTTT=0.0000	0.766654	0.076354	0.156993	32
European	Sub	5416	TTTTTTTTTTTTTT=0.6743	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.1795, TTTTTTTTTTTTTTTT=0.1420, TTTTTTTTTTTTTTTTT=0.0042, TTTTTTTTTTTTTTTTTT=0.0000	0.708516	0.095377	0.196107	32
African	Sub	768	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	26	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	742	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	14	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	8	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	6	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	24	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	94	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	10	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	118	TTTTTTTTTTTTTT=0.975	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.025, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	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
Allele Frequency Aggregator	Total	Global	6444	(T)₁₄=0.7258	delTT=0.0000, delT=0.0000, dupT=0.1508, dupTT=0.1198, dupTTT=0.0036, dup(T)₄=0.0000
Allele Frequency Aggregator	European	Sub	5416	(T)₁₄=0.6743	delTT=0.0000, delT=0.0000, dupT=0.1795, dupTT=0.1420, dupTTT=0.0042, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	768	(T)₁₄=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	118	(T)₁₄=0.975	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.025, dupTTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	94	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	24	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	Asian	Sub	14	(T)₁₄=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	10	(T)₁₄=1.0	delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4235
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.3321
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.4504
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.4046
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.529
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.438

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.125016364_125016369del
GRCh38.p14 chr 12	NC_000012.12:g.125016368_125016369del
GRCh38.p14 chr 12	NC_000012.12:g.125016369del
GRCh38.p14 chr 12	NC_000012.12:g.125016369dup
GRCh38.p14 chr 12	NC_000012.12:g.125016368_125016369dup
GRCh38.p14 chr 12	NC_000012.12:g.125016367_125016369dup
GRCh38.p14 chr 12	NC_000012.12:g.125016366_125016369dup
GRCh37.p13 chr 12	NC_000012.11:g.125500910_125500915del
GRCh37.p13 chr 12	NC_000012.11:g.125500914_125500915del
GRCh37.p13 chr 12	NC_000012.11:g.125500915del
GRCh37.p13 chr 12	NC_000012.11:g.125500915dup
GRCh37.p13 chr 12	NC_000012.11:g.125500914_125500915dup
GRCh37.p13 chr 12	NC_000012.11:g.125500913_125500915dup
GRCh37.p13 chr 12	NC_000012.11:g.125500912_125500915dup

Gene: BRI3BP, BRI3 binding protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRI3BP transcript	NM_080626.6:c.316+3728_31… NM_080626.6:c.316+3728_316+3733del	N/A	Intron Variant
BRI3BP transcript variant X1	XM_011537940.3:c.316+3728… XM_011537940.3:c.316+3728_316+3733del	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	(T)₁₄=	del(T)₆	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄
GRCh38.p14 chr 12	NC_000012.12:g.125016356_125016369=	NC_000012.12:g.125016364_125016369del	NC_000012.12:g.125016368_125016369del	NC_000012.12:g.125016369del	NC_000012.12:g.125016369dup	NC_000012.12:g.125016368_125016369dup	NC_000012.12:g.125016367_125016369dup	NC_000012.12:g.125016366_125016369dup
GRCh37.p13 chr 12	NC_000012.11:g.125500902_125500915=	NC_000012.11:g.125500910_125500915del	NC_000012.11:g.125500914_125500915del	NC_000012.11:g.125500915del	NC_000012.11:g.125500915dup	NC_000012.11:g.125500914_125500915dup	NC_000012.11:g.125500913_125500915dup	NC_000012.11:g.125500912_125500915dup
BRI3BP transcript	NM_080626.5:c.316+3720=	NM_080626.5:c.316+3728_316+3733del	NM_080626.5:c.316+3732_316+3733del	NM_080626.5:c.316+3733del	NM_080626.5:c.316+3733dup	NM_080626.5:c.316+3732_316+3733dup	NM_080626.5:c.316+3731_316+3733dup	NM_080626.5:c.316+3730_316+3733dup
BRI3BP transcript	NM_080626.6:c.316+3720=	NM_080626.6:c.316+3728_316+3733del	NM_080626.6:c.316+3732_316+3733del	NM_080626.6:c.316+3733del	NM_080626.6:c.316+3733dup	NM_080626.6:c.316+3732_316+3733dup	NM_080626.6:c.316+3731_316+3733dup	NM_080626.6:c.316+3730_316+3733dup
BRI3BP transcript variant X1	XM_011537940.3:c.316+3720=	XM_011537940.3:c.316+3728_316+3733del	XM_011537940.3:c.316+3732_316+3733del	XM_011537940.3:c.316+3733del	XM_011537940.3:c.316+3733dup	XM_011537940.3:c.316+3732_316+3733dup	XM_011537940.3:c.316+3731_316+3733dup	XM_011537940.3:c.316+3730_316+3733dup

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#.

60 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40188203	Oct 12, 2018 (152)
2	HGSV	ss77909712	Dec 06, 2007 (129)
3	HGSV	ss77912487	Dec 06, 2007 (129)
4	HGSV	ss80901413	Dec 14, 2007 (130)
5	HGSV	ss81662875	Dec 14, 2007 (130)
6	HGSV	ss82495686	Dec 14, 2007 (130)
7	HGSV	ss82575920	Dec 14, 2007 (130)
8	DEVINE_LAB	ss94217469	Oct 12, 2018 (152)
9	HUMANGENOME_JCVI	ss95971713	Feb 04, 2009 (130)
10	GMI	ss289158218	Sep 14, 2016 (149)
11	PJP	ss294780406	Oct 12, 2018 (152)
12	PJP	ss294780407	Oct 12, 2018 (152)
13	PJP	ss294780408	Oct 12, 2018 (152)
14	SSMP	ss664098715	Apr 01, 2015 (144)
15	1000GENOMES	ss1372758963	Aug 21, 2014 (142)
16	DDI	ss1536746569	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1707666160	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1707666161	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1707666486	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1707666489	Apr 01, 2015 (144)
21	SWEGEN	ss3010516276	Nov 08, 2017 (151)
22	SWEGEN	ss3010516277	Nov 08, 2017 (151)
23	SWEGEN	ss3010516278	Nov 08, 2017 (151)
24	EVA_DECODE	ss3694675391	Jul 13, 2019 (153)
25	EVA_DECODE	ss3694675392	Jul 13, 2019 (153)
26	EVA_DECODE	ss3694675393	Jul 13, 2019 (153)
27	EVA_DECODE	ss3694675394	Jul 13, 2019 (153)
28	PACBIO	ss3792441552	Jul 13, 2019 (153)
29	PACBIO	ss3797324752	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3816416238	Jul 13, 2019 (153)
31	KOGIC	ss3972955264	Apr 27, 2020 (154)
32	KOGIC	ss3972955265	Apr 27, 2020 (154)
33	KOGIC	ss3972955266	Apr 27, 2020 (154)
34	KOGIC	ss3972955267	Apr 27, 2020 (154)
35	GNOMAD	ss4260803335	Apr 26, 2021 (155)
36	GNOMAD	ss4260803336	Apr 26, 2021 (155)
37	GNOMAD	ss4260803337	Apr 26, 2021 (155)
38	GNOMAD	ss4260803338	Apr 26, 2021 (155)
39	GNOMAD	ss4260803340	Apr 26, 2021 (155)
40	GNOMAD	ss4260803341	Apr 26, 2021 (155)
41	GNOMAD	ss4260803342	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5208645355	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5208645356	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5208645357	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5208645358	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5292594871	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5292594872	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5292594873	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5487160571	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5487160572	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5487160573	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5759122384	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5759122385	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5759122386	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5759122387	Oct 16, 2022 (156)
56	EVA	ss5838654159	Oct 16, 2022 (156)
57	EVA	ss5838654160	Oct 16, 2022 (156)
58	EVA	ss5838654161	Oct 16, 2022 (156)
59	EVA	ss5850591776	Oct 16, 2022 (156)
60	EVA	ss5980769145	Oct 16, 2022 (156)
61	1000Genomes	NC_000012.11 - 125500902	Oct 12, 2018 (152)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33250682 (NC_000012.11:125500901::TT 1110/3854) Row 33250683 (NC_000012.11:125500901::T 1163/3854)	-	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33250682 (NC_000012.11:125500901::TT 1110/3854) Row 33250683 (NC_000012.11:125500901::T 1163/3854)	-	Oct 12, 2018 (152)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 422272944 (NC_000012.12:125016355::T 40182/131522) Row 422272945 (NC_000012.12:125016355::TT 32798/131472) Row 422272946 (NC_000012.12:125016355::TTT 556/131618)...	-	Apr 26, 2021 (155)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 29333265 (NC_000012.12:125016356::T 565/1826) Row 29333266 (NC_000012.12:125016355:T: 19/1826) Row 29333267 (NC_000012.12:125016356::TT 503/1826)...	-	Apr 27, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 29333265 (NC_000012.12:125016356::T 565/1826) Row 29333266 (NC_000012.12:125016355:T: 19/1826) Row 29333267 (NC_000012.12:125016356::TT 503/1826)...	-	Apr 27, 2020 (154)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 29333265 (NC_000012.12:125016356::T 565/1826) Row 29333266 (NC_000012.12:125016355:T: 19/1826) Row 29333267 (NC_000012.12:125016356::TT 503/1826)...	-	Apr 27, 2020 (154)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 29333265 (NC_000012.12:125016356::T 565/1826) Row 29333266 (NC_000012.12:125016355:T: 19/1826) Row 29333267 (NC_000012.12:125016356::TT 503/1826)...	-	Apr 27, 2020 (154)
75	8.3KJPN Submission ignored due to conflicting rows: Row 66614662 (NC_000012.11:125500901::T 5738/16738) Row 66614663 (NC_000012.11:125500901::TT 5296/16738) Row 66614664 (NC_000012.11:125500901::TTT 71/16738)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 66614662 (NC_000012.11:125500901::T 5738/16738) Row 66614663 (NC_000012.11:125500901::TT 5296/16738) Row 66614664 (NC_000012.11:125500901::TTT 71/16738)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 66614662 (NC_000012.11:125500901::T 5738/16738) Row 66614663 (NC_000012.11:125500901::TT 5296/16738) Row 66614664 (NC_000012.11:125500901::TTT 71/16738)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 66614662 (NC_000012.11:125500901::T 5738/16738) Row 66614663 (NC_000012.11:125500901::TT 5296/16738) Row 66614664 (NC_000012.11:125500901::TTT 71/16738)...	-	Apr 26, 2021 (155)
79	14KJPN Submission ignored due to conflicting rows: Row 92959488 (NC_000012.12:125016355::TT 9082/28258) Row 92959489 (NC_000012.12:125016355::T 9666/28258) Row 92959490 (NC_000012.12:125016355::TTT 138/28258)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 92959488 (NC_000012.12:125016355::TT 9082/28258) Row 92959489 (NC_000012.12:125016355::T 9666/28258) Row 92959490 (NC_000012.12:125016355::TTT 138/28258)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 92959488 (NC_000012.12:125016355::TT 9082/28258) Row 92959489 (NC_000012.12:125016355::T 9666/28258) Row 92959490 (NC_000012.12:125016355::TTT 138/28258)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 92959488 (NC_000012.12:125016355::TT 9082/28258) Row 92959489 (NC_000012.12:125016355::T 9666/28258) Row 92959490 (NC_000012.12:125016355::TTT 138/28258)...	-	Oct 16, 2022 (156)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33250682 (NC_000012.11:125500901::TT 1080/3708) Row 33250683 (NC_000012.11:125500901::T 1102/3708)	-	Oct 12, 2018 (152)
84	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33250682 (NC_000012.11:125500901::TT 1080/3708) Row 33250683 (NC_000012.11:125500901::T 1102/3708)	-	Oct 12, 2018 (152)
85	ALFA	NC_000012.12 - 125016356	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)
rs57541576	May 24, 2008 (130)
rs386363354	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4260803342	NC_000012.12:125016355:TTTTTT:	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4260803341	NC_000012.12:125016355:TT:	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9834466169	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5208645358	NC_000012.11:125500901:T:	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3694675391, ss3972955265, ss4260803340, ss5759122387	NC_000012.12:125016355:T:	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9834466169	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss294780407	NC_000012.10:124066862::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss289158218	NC_000012.10:124066868::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
59864961, ss1372758963, ss1707666161, ss1707666489, ss3010516277, ss5208645355, ss5838654160	NC_000012.11:125500901::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3816416238, ss4260803335, ss5292594872, ss5487160571, ss5759122385, ss5850591776	NC_000012.12:125016355::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
9834466169	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3694675392, ss3972955264	NC_000012.12:125016356::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss40188203	NT_009755.19:2920278::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss95971713	NT_009755.19:2920292::T	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294780406	NC_000012.10:124066855::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss294780408	NC_000012.10:124066867::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss289158218	NC_000012.10:124066868::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss664098715, ss1536746569, ss1707666160, ss1707666486, ss3010516276, ss3792441552, ss3797324752, ss5208645356, ss5838654159, ss5980769145	NC_000012.11:125500901::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4260803336, ss5292594871, ss5487160572, ss5759122384	NC_000012.12:125016355::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
9834466169	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3694675393, ss3972955266	NC_000012.12:125016356::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss94217469	NT_009755.19:2920279::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss77909712, ss77912487, ss80901413, ss81662875, ss82495686, ss82575920	NT_009755.19:2920292::TT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3010516278, ss5208645357, ss5838654161	NC_000012.11:125500901::TTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4260803337, ss5292594873, ss5487160573, ss5759122386	NC_000012.12:125016355::TTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
9834466169	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3694675394, ss3972955267	NC_000012.12:125016356::TTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4260803338	NC_000012.12:125016355::TTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9834466169	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:125016355:TTTTTTTTTTT… NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(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 rs55938703

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

rs55938703