Name: rs199554405
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.

rs199554405

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:190447350-190447366 (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: delATAT / delAT / dupAT / dupATAT …
delATAT / delAT / dupAT / dupATAT / dup(AT)₃
Variation Type: Indel Insertion and Deletion
Frequency: dupAT=0.04514 (609/13490, ALFA)
dupAT=0.1371 (613/4470, Estonian)
dupAT=0.140 (84/600, NorthernSweden) (+ 1 more)
dupAT=0.20 (6/30, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BRINP3 : 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	13490	TATATATATATATATAT=0.95456	TATATATATATAT=0.00000, TATATATATATATAT=0.00015, TATATATATATATATATAT=0.04514, TATATATATATATATATATAT=0.00015, TATATATATATATATATATATAT=0.00000	0.916778	0.007121	0.076101	32
European	Sub	10130	TATATATATATATATAT=0.93968	TATATATATATAT=0.00000, TATATATATATATAT=0.00020, TATATATATATATATATAT=0.05992, TATATATATATATATATATAT=0.00020, TATATATATATATATATATATAT=0.00000	0.889548	0.009484	0.100968	29
African	Sub	2382	TATATATATATATATAT=1.0000	TATATATATATAT=0.0000, TATATATATATATAT=0.0000, TATATATATATATATATAT=0.0000, TATATATATATATATATATAT=0.0000, TATATATATATATATATATATAT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	96	TATATATATATATATAT=1.00	TATATATATATAT=0.00, TATATATATATATAT=0.00, TATATATATATATATATAT=0.00, TATATATATATATATATATAT=0.00, TATATATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2286	TATATATATATATATAT=1.0000	TATATATATATAT=0.0000, TATATATATATATAT=0.0000, TATATATATATATATATAT=0.0000, TATATATATATATATATATAT=0.0000, TATATATATATATATATATATAT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	62	TATATATATATATATAT=1.00	TATATATATATAT=0.00, TATATATATATATAT=0.00, TATATATATATATATATAT=0.00, TATATATATATATATATATAT=0.00, TATATATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	TATATATATATATATAT=1.00	TATATATATATAT=0.00, TATATATATATATAT=0.00, TATATATATATATATATAT=0.00, TATATATATATATATATATAT=0.00, TATATATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TATATATATATATATAT=1.00	TATATATATATAT=0.00, TATATATATATATAT=0.00, TATATATATATATATATAT=0.00, TATATATATATATATATATAT=0.00, TATATATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	120	TATATATATATATATAT=1.000	TATATATATATAT=0.000, TATATATATATATAT=0.000, TATATATATATATATATAT=0.000, TATATATATATATATATATAT=0.000, TATATATATATATATATATATAT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	372	TATATATATATATATAT=1.000	TATATATATATAT=0.000, TATATATATATATAT=0.000, TATATATATATATATATAT=0.000, TATATATATATATATATATAT=0.000, TATATATATATATATATATATAT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	86	TATATATATATATATAT=1.00	TATATATATATAT=0.00, TATATATATATATAT=0.00, TATATATATATATATATAT=0.00, TATATATATATATATATATAT=0.00, TATATATATATATATATATATAT=0.00	1.0	0.0	0.0	N/A
Other	Sub	338	TATATATATATATATAT=0.994	TATATATATATAT=0.000, TATATATATATATAT=0.000, TATATATATATATATATAT=0.006, TATATATATATATATATATAT=0.000, TATATATATATATATATATATAT=0.000	0.988166	0.0	0.011834	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	13490	(TA)₈T=0.95456	delATAT=0.00000, delAT=0.00015, dupAT=0.04514, dupATAT=0.00015, dup(AT)₃=0.00000
Allele Frequency Aggregator	European	Sub	10130	(TA)₈T=0.93968	delATAT=0.00000, delAT=0.00020, dupAT=0.05992, dupATAT=0.00020, dup(AT)₃=0.00000
Allele Frequency Aggregator	African	Sub	2382	(TA)₈T=1.0000	delATAT=0.0000, delAT=0.0000, dupAT=0.0000, dupATAT=0.0000, dup(AT)₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	372	(TA)₈T=1.000	delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)₃=0.000
Allele Frequency Aggregator	Other	Sub	338	(TA)₈T=0.994	delATAT=0.000, delAT=0.000, dupAT=0.006, dupATAT=0.000, dup(AT)₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	120	(TA)₈T=1.000	delATAT=0.000, delAT=0.000, dupAT=0.000, dupATAT=0.000, dup(AT)₃=0.000
Allele Frequency Aggregator	South Asian	Sub	86	(TA)₈T=1.00	delATAT=0.00, delAT=0.00, dupAT=0.00, dupATAT=0.00, dup(AT)₃=0.00
Allele Frequency Aggregator	Asian	Sub	62	(TA)₈T=1.00	delATAT=0.00, delAT=0.00, dupAT=0.00, dupATAT=0.00, dup(AT)₃=0.00
Genetic variation in the Estonian population	Estonian	Study-wide	4470	- No frequency provided	dupAT=0.1371
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupAT=0.140
The Danish reference pan genome	Danish	Study-wide	30	- No frequency provided	dupAT=0.20

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 1	NC_000001.11:g.190447351AT[6]
GRCh38.p14 chr 1	NC_000001.11:g.190447351AT[7]
GRCh38.p14 chr 1	NC_000001.11:g.190447351AT[9]
GRCh38.p14 chr 1	NC_000001.11:g.190447351AT[10]
GRCh38.p14 chr 1	NC_000001.11:g.190447351AT[11]
GRCh37.p13 chr 1	NC_000001.10:g.190416481AT[6]
GRCh37.p13 chr 1	NC_000001.10:g.190416481AT[7]
GRCh37.p13 chr 1	NC_000001.10:g.190416481AT[9]
GRCh37.p13 chr 1	NC_000001.10:g.190416481AT[10]
GRCh37.p13 chr 1	NC_000001.10:g.190416481AT[11]

Gene: BRINP3, BMP/retinoic acid inducible neural specific 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRINP3 transcript variant 2	NM_001317188.2:c.121+7290… NM_001317188.2:c.121+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant 1	NM_199051.3:c.236+7290TA[… NM_199051.3:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X5	XM_011509472.3:c.121+7290… XM_011509472.3:c.121+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X9	XM_011509476.3:c.121+7290… XM_011509476.3:c.121+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X4	XM_017001125.2:c.236+7290… XM_017001125.2:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X2	XM_017001126.2:c.236+7290… XM_017001126.2:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X6	XM_017001127.2:c.121+7290… XM_017001127.2:c.121+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X7	XM_017001128.2:c.121+7290… XM_017001128.2:c.121+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X10	XM_017001129.2:c.121+7290… XM_017001129.2:c.121+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X11	XM_017001132.2:c.236+7290… XM_017001132.2:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X12	XM_017001133.2:c.236+7290… XM_017001133.2:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X1	XM_047419245.1:c.236+7290… XM_047419245.1:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X3	XM_047419250.1:c.236+7290… XM_047419250.1:c.236+7290TA[6]	N/A	Intron Variant
BRINP3 transcript variant X8	XM_011509475.3:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(TA)₈T=	delATAT	delAT	dupAT	dupATAT	dup(AT)₃
GRCh38.p14 chr 1	NC_000001.11:g.190447350_190447366=	NC_000001.11:g.190447351AT[6]	NC_000001.11:g.190447351AT[7]	NC_000001.11:g.190447351AT[9]	NC_000001.11:g.190447351AT[10]	NC_000001.11:g.190447351AT[11]
GRCh37.p13 chr 1	NC_000001.10:g.190416480_190416496=	NC_000001.10:g.190416481AT[6]	NC_000001.10:g.190416481AT[7]	NC_000001.10:g.190416481AT[9]	NC_000001.10:g.190416481AT[10]	NC_000001.10:g.190416481AT[11]
BRINP3 transcript variant 2	NM_001317188.2:c.121+7305=	NM_001317188.2:c.121+7290TA[6]	NM_001317188.2:c.121+7290TA[7]	NM_001317188.2:c.121+7290TA[9]	NM_001317188.2:c.121+7290TA[10]	NM_001317188.2:c.121+7290TA[11]
BRINP3 transcript	NM_199051.1:c.236+7305=	NM_199051.1:c.236+7290TA[6]	NM_199051.1:c.236+7290TA[7]	NM_199051.1:c.236+7290TA[9]	NM_199051.1:c.236+7290TA[10]	NM_199051.1:c.236+7290TA[11]
BRINP3 transcript variant 1	NM_199051.3:c.236+7305=	NM_199051.3:c.236+7290TA[6]	NM_199051.3:c.236+7290TA[7]	NM_199051.3:c.236+7290TA[9]	NM_199051.3:c.236+7290TA[10]	NM_199051.3:c.236+7290TA[11]
BRINP3 transcript variant X2	XM_005245117.1:c.236+7305=	XM_005245117.1:c.236+7290TA[6]	XM_005245117.1:c.236+7290TA[7]	XM_005245117.1:c.236+7290TA[9]	XM_005245117.1:c.236+7290TA[10]	XM_005245117.1:c.236+7290TA[11]
FAM5C transcript variant X2	XM_005245118.1:c.236+7305=	XM_005245118.1:c.236+7290TA[6]	XM_005245118.1:c.236+7290TA[7]	XM_005245118.1:c.236+7290TA[9]	XM_005245118.1:c.236+7290TA[10]	XM_005245118.1:c.236+7290TA[11]
BRINP3 transcript variant X3	XM_005245119.1:c.236+7305=	XM_005245119.1:c.236+7290TA[6]	XM_005245119.1:c.236+7290TA[7]	XM_005245119.1:c.236+7290TA[9]	XM_005245119.1:c.236+7290TA[10]	XM_005245119.1:c.236+7290TA[11]
BRINP3 transcript variant X4	XM_005245120.1:c.236+7305=	XM_005245120.1:c.236+7290TA[6]	XM_005245120.1:c.236+7290TA[7]	XM_005245120.1:c.236+7290TA[9]	XM_005245120.1:c.236+7290TA[10]	XM_005245120.1:c.236+7290TA[11]
FAM5C transcript variant X5	XM_005245121.1:c.121+7305=	XM_005245121.1:c.121+7290TA[6]	XM_005245121.1:c.121+7290TA[7]	XM_005245121.1:c.121+7290TA[9]	XM_005245121.1:c.121+7290TA[10]	XM_005245121.1:c.121+7290TA[11]
FAM5C transcript variant X6	XM_005245122.1:c.121+7305=	XM_005245122.1:c.121+7290TA[6]	XM_005245122.1:c.121+7290TA[7]	XM_005245122.1:c.121+7290TA[9]	XM_005245122.1:c.121+7290TA[10]	XM_005245122.1:c.121+7290TA[11]
BRINP3 transcript variant X7	XM_005245123.1:c.236+7305=	XM_005245123.1:c.236+7290TA[6]	XM_005245123.1:c.236+7290TA[7]	XM_005245123.1:c.236+7290TA[9]	XM_005245123.1:c.236+7290TA[10]	XM_005245123.1:c.236+7290TA[11]
BRINP3 transcript variant X5	XM_011509472.3:c.121+7305=	XM_011509472.3:c.121+7290TA[6]	XM_011509472.3:c.121+7290TA[7]	XM_011509472.3:c.121+7290TA[9]	XM_011509472.3:c.121+7290TA[10]	XM_011509472.3:c.121+7290TA[11]
BRINP3 transcript variant X9	XM_011509476.3:c.121+7305=	XM_011509476.3:c.121+7290TA[6]	XM_011509476.3:c.121+7290TA[7]	XM_011509476.3:c.121+7290TA[9]	XM_011509476.3:c.121+7290TA[10]	XM_011509476.3:c.121+7290TA[11]
BRINP3 transcript variant X4	XM_017001125.2:c.236+7305=	XM_017001125.2:c.236+7290TA[6]	XM_017001125.2:c.236+7290TA[7]	XM_017001125.2:c.236+7290TA[9]	XM_017001125.2:c.236+7290TA[10]	XM_017001125.2:c.236+7290TA[11]
BRINP3 transcript variant X2	XM_017001126.2:c.236+7305=	XM_017001126.2:c.236+7290TA[6]	XM_017001126.2:c.236+7290TA[7]	XM_017001126.2:c.236+7290TA[9]	XM_017001126.2:c.236+7290TA[10]	XM_017001126.2:c.236+7290TA[11]
BRINP3 transcript variant X6	XM_017001127.2:c.121+7305=	XM_017001127.2:c.121+7290TA[6]	XM_017001127.2:c.121+7290TA[7]	XM_017001127.2:c.121+7290TA[9]	XM_017001127.2:c.121+7290TA[10]	XM_017001127.2:c.121+7290TA[11]
BRINP3 transcript variant X7	XM_017001128.2:c.121+7305=	XM_017001128.2:c.121+7290TA[6]	XM_017001128.2:c.121+7290TA[7]	XM_017001128.2:c.121+7290TA[9]	XM_017001128.2:c.121+7290TA[10]	XM_017001128.2:c.121+7290TA[11]
BRINP3 transcript variant X10	XM_017001129.2:c.121+7305=	XM_017001129.2:c.121+7290TA[6]	XM_017001129.2:c.121+7290TA[7]	XM_017001129.2:c.121+7290TA[9]	XM_017001129.2:c.121+7290TA[10]	XM_017001129.2:c.121+7290TA[11]
BRINP3 transcript variant X11	XM_017001132.2:c.236+7305=	XM_017001132.2:c.236+7290TA[6]	XM_017001132.2:c.236+7290TA[7]	XM_017001132.2:c.236+7290TA[9]	XM_017001132.2:c.236+7290TA[10]	XM_017001132.2:c.236+7290TA[11]
BRINP3 transcript variant X12	XM_017001133.2:c.236+7305=	XM_017001133.2:c.236+7290TA[6]	XM_017001133.2:c.236+7290TA[7]	XM_017001133.2:c.236+7290TA[9]	XM_017001133.2:c.236+7290TA[10]	XM_017001133.2:c.236+7290TA[11]
BRINP3 transcript variant X1	XM_047419245.1:c.236+7305=	XM_047419245.1:c.236+7290TA[6]	XM_047419245.1:c.236+7290TA[7]	XM_047419245.1:c.236+7290TA[9]	XM_047419245.1:c.236+7290TA[10]	XM_047419245.1:c.236+7290TA[11]
BRINP3 transcript variant X3	XM_047419250.1:c.236+7305=	XM_047419250.1:c.236+7290TA[6]	XM_047419250.1:c.236+7290TA[7]	XM_047419250.1:c.236+7290TA[9]	XM_047419250.1:c.236+7290TA[10]	XM_047419250.1:c.236+7290TA[11]

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#.

47 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288070004	May 04, 2012 (137)
2	LUNTER	ss551004105	Apr 25, 2013 (138)
3	SSMP	ss663142328	Apr 01, 2015 (144)
4	SSIP	ss947035909	Aug 21, 2014 (142)
5	EVA_GENOME_DK	ss1574067639	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1701558953	Jan 10, 2018 (151)
7	EVA_UK10K_TWINSUK	ss1701559083	Jan 10, 2018 (151)
8	EVA_UK10K_TWINSUK	ss1709962561	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1709962575	Apr 01, 2015 (144)
10	JJLAB	ss2030364637	Sep 14, 2016 (149)
11	SWEGEN	ss2988151945	Jan 10, 2018 (151)
12	SWEGEN	ss2988151946	Jan 10, 2018 (151)
13	MCHAISSO	ss3063618523	Jan 10, 2018 (151)
14	MCHAISSO	ss3064435499	Jan 10, 2018 (151)
15	MCHAISSO	ss3065341103	Jan 10, 2018 (151)
16	EGCUT_WGS	ss3656106520	Jul 12, 2019 (153)
17	EVA_DECODE	ss3688266594	Jul 12, 2019 (153)
18	EVA_DECODE	ss3688266595	Jul 12, 2019 (153)
19	EVA_DECODE	ss3688266596	Jul 12, 2019 (153)
20	EVA_DECODE	ss3688266597	Jul 12, 2019 (153)
21	ACPOP	ss3727700875	Jul 12, 2019 (153)
22	EVA	ss3826552784	Apr 25, 2020 (154)
23	EVA	ss3836673701	Apr 25, 2020 (154)
24	EVA	ss3842084359	Apr 25, 2020 (154)
25	KOGIC	ss3946134442	Apr 25, 2020 (154)
26	KOGIC	ss3946134443	Apr 25, 2020 (154)
27	KOGIC	ss3946134444	Apr 25, 2020 (154)
28	KOGIC	ss3946134445	Apr 25, 2020 (154)
29	GNOMAD	ss4008044952	Apr 25, 2021 (155)
30	GNOMAD	ss4008044953	Apr 25, 2021 (155)
31	GNOMAD	ss4008044954	Apr 25, 2021 (155)
32	GNOMAD	ss4008044955	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5147601866	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5147601867	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5147601868	Apr 25, 2021 (155)
36	1000G_HIGH_COVERAGE	ss5245158459	Oct 12, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5245158460	Oct 12, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5245158461	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5445657135	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5445657136	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5445657137	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5675121998	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5675121999	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5675122000	Oct 12, 2022 (156)
45	EVA	ss5833006044	Oct 12, 2022 (156)
46	EVA	ss5833006045	Oct 12, 2022 (156)
47	EVA	ss5849208358	Oct 12, 2022 (156)
48	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2605320 (NC_000001.10:190416479::TA 469/3854) Row 2605321 (NC_000001.10:190416479:TA: 31/3854)	-	Oct 11, 2018 (152)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2605320 (NC_000001.10:190416479::TA 469/3854) Row 2605321 (NC_000001.10:190416479:TA: 31/3854)	-	Oct 11, 2018 (152)
50	Genetic variation in the Estonian population	NC_000001.10 - 190416480	Oct 11, 2018 (152)
51	The Danish reference pan genome	NC_000001.10 - 190416480	Apr 25, 2020 (154)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34247338 (NC_000001.11:190447349::TA 16067/132704) Row 34247339 (NC_000001.11:190447349::TATA 153/132828) Row 34247340 (NC_000001.11:190447349:TA: 66/132768)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34247338 (NC_000001.11:190447349::TA 16067/132704) Row 34247339 (NC_000001.11:190447349::TATA 153/132828) Row 34247340 (NC_000001.11:190447349:TA: 66/132768)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34247338 (NC_000001.11:190447349::TA 16067/132704) Row 34247339 (NC_000001.11:190447349::TATA 153/132828) Row 34247340 (NC_000001.11:190447349:TA: 66/132768)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34247338 (NC_000001.11:190447349::TA 16067/132704) Row 34247339 (NC_000001.11:190447349::TATA 153/132828) Row 34247340 (NC_000001.11:190447349:TA: 66/132768)...	-	Apr 25, 2021 (155)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 2512443 (NC_000001.11:190447351::TATA 37/1794) Row 2512444 (NC_000001.11:190447349:TA: 16/1794) Row 2512445 (NC_000001.11:190447351::TA 239/1794)...	-	Apr 25, 2020 (154)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 2512443 (NC_000001.11:190447351::TATA 37/1794) Row 2512444 (NC_000001.11:190447349:TA: 16/1794) Row 2512445 (NC_000001.11:190447351::TA 239/1794)...	-	Apr 25, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 2512443 (NC_000001.11:190447351::TATA 37/1794) Row 2512444 (NC_000001.11:190447349:TA: 16/1794) Row 2512445 (NC_000001.11:190447351::TA 239/1794)...	-	Apr 25, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 2512443 (NC_000001.11:190447351::TATA 37/1794) Row 2512444 (NC_000001.11:190447349:TA: 16/1794) Row 2512445 (NC_000001.11:190447351::TA 239/1794)...	-	Apr 25, 2020 (154)
60	Northern Sweden	NC_000001.10 - 190416480	Jul 12, 2019 (153)
61	8.3KJPN Submission ignored due to conflicting rows: Row 5571173 (NC_000001.10:190416479::TA 2791/16758) Row 5571174 (NC_000001.10:190416479:TA: 17/16758) Row 5571175 (NC_000001.10:190416479::TATA 269/16758)	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 5571173 (NC_000001.10:190416479::TA 2791/16758) Row 5571174 (NC_000001.10:190416479:TA: 17/16758) Row 5571175 (NC_000001.10:190416479::TATA 269/16758)	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 5571173 (NC_000001.10:190416479::TA 2791/16758) Row 5571174 (NC_000001.10:190416479:TA: 17/16758) Row 5571175 (NC_000001.10:190416479::TATA 269/16758)	-	Apr 25, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 8959102 (NC_000001.11:190447349::TA 4636/28254) Row 8959103 (NC_000001.11:190447349::TATA 461/28254) Row 8959104 (NC_000001.11:190447349:TA: 22/28254)	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 8959102 (NC_000001.11:190447349::TA 4636/28254) Row 8959103 (NC_000001.11:190447349::TATA 461/28254) Row 8959104 (NC_000001.11:190447349:TA: 22/28254)	-	Oct 12, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 8959102 (NC_000001.11:190447349::TA 4636/28254) Row 8959103 (NC_000001.11:190447349::TATA 461/28254) Row 8959104 (NC_000001.11:190447349:TA: 22/28254)	-	Oct 12, 2022 (156)
67	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2605320 (NC_000001.10:190416479::TA 416/3708) Row 2605321 (NC_000001.10:190416479:TA: 26/3708)	-	Oct 11, 2018 (152)
68	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2605320 (NC_000001.10:190416479::TA 416/3708) Row 2605321 (NC_000001.10:190416479:TA: 26/3708)	-	Oct 11, 2018 (152)
69	ALFA	NC_000001.11 - 190447350	Apr 25, 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)
rs370370774	May 15, 2013 (138)
rs796759525	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3688266594, ss4008044955	NC_000001.11:190447349:TATA:	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATAT	(self)
3159839242	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATAT	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATAT	(self)
ss1701558953, ss1701559083, ss5147601867, ss5833006045	NC_000001.10:190416479:TA:	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATAT	(self)
ss3946134443, ss4008044954, ss5245158461, ss5445657137, ss5675122000	NC_000001.11:190447349:TA:	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATAT	(self)
3159839242	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATAT	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATAT	(self)
ss3688266595	NC_000001.11:190447351:TA:	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATAT	(self)
ss551004105	NC_000001.9:188683102::TA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
ss288070004	NC_000001.9:188683119::AT	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
1844768, 188634, 985740, ss663142328, ss947035909, ss1574067639, ss2030364637, ss2988151945, ss3656106520, ss3727700875, ss3826552784, ss3836673701, ss5147601866, ss5833006044	NC_000001.10:190416479::TA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
ss1709962561, ss1709962575	NC_000001.10:190416481::TA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
ss3063618523, ss3064435499, ss3065341103, ss3842084359, ss4008044952, ss5245158459, ss5445657135, ss5675121998, ss5849208358	NC_000001.11:190447349::TA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
3159839242	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
ss3946134444	NC_000001.11:190447351::TA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
ss3688266596	NC_000001.11:190447353::TA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT	(self)
ss2988151946, ss5147601868	NC_000001.10:190416479::TATA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT	(self)
ss4008044953, ss5245158460, ss5445657136, ss5675121999	NC_000001.11:190447349::TATA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT	(self)
3159839242	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT	(self)
ss3946134442	NC_000001.11:190447351::TATA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT	(self)
ss3688266597	NC_000001.11:190447353::TATA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT	(self)
3159839242	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATATAT	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATATAT	(self)
ss3946134445	NC_000001.11:190447351::TATATA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATATAT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3098613506	NC_000001.11:190447349::TATATA	NC_000001.11:190447349:TATATATATAT… NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATATAT

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

No publications for rs199554405

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

rs199554405