Name: rs143037724
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.

rs143037724

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:14162249-14162257 (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: delT / dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.110374 (29215/264690, TOPMED)
dupT=0.15783 (4460/28258, 14KJPN)
dupT=0.15967 (2676/16760, 8.3KJPN) (+ 7 more)
dupT=0.03603 (471/13074, ALFA)
delT=0.0695 (311/4472, 1000G)
dupT=0.1059 (470/4440, Estonian)
dupT=0.1214 (468/3854, ALSPAC)
dupT=0.1222 (453/3708, TWINSUK)
dupT=0.1829 (335/1832, Korea1K)
dupT=0.10 (4/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NFIB : 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	13074	TTTTTTTTT=0.96252	TTTTTTTT=0.00145, TTTTTTTTTT=0.03603, TTTTTTTTTTT=0.00000	0.931267	0.003222	0.065511	11
European	Sub	10316	TTTTTTTTT=0.95250	TTTTTTTT=0.00184, TTTTTTTTTT=0.04566, TTTTTTTTTTT=0.00000	0.912824	0.004086	0.08309	6
African	Sub	1670	TTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	48	TTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1622	TTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	70	TTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	54	TTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	TTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	120	TTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	478	TTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	94	TTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	326	TTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	- No frequency provided	dupT=0.110374
14KJPN	JAPANESE	Study-wide	28258	- No frequency provided	dupT=0.15783
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	dupT=0.15967
Allele Frequency Aggregator	Total	Global	13074	(T)₉=0.96252	delT=0.00145, dupT=0.03603, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	10316	(T)₉=0.95250	delT=0.00184, dupT=0.04566, dupTT=0.00000
Allele Frequency Aggregator	African	Sub	1670	(T)₉=1.0000	delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	478	(T)₉=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	326	(T)₉=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	120	(T)₉=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₉=1.00	delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Asian	Sub	70	(T)₉=1.00	delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes	Global	Study-wide	4472	(T)₉=0.9305	delT=0.0695
1000Genomes	African	Sub	1219	(T)₉=0.7801	delT=0.2199
1000Genomes	South Asian	Sub	946	(T)₉=0.990	delT=0.010
1000Genomes	Europe	Sub	881	(T)₉=0.988	delT=0.012
1000Genomes	East Asian	Sub	818	(T)₉=0.998	delT=0.002
1000Genomes	American	Sub	608	(T)₉=0.965	delT=0.035
Genetic variation in the Estonian population	Estonian	Study-wide	4440	- No frequency provided	dupT=0.1059
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.1214
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.1222
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	dupT=0.1829
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.10

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 9	NC_000009.12:g.14162257del
GRCh38.p14 chr 9	NC_000009.12:g.14162257dup
GRCh38.p14 chr 9	NC_000009.12:g.14162256_14162257dup
GRCh37.p13 chr 9	NC_000009.11:g.14162256del
GRCh37.p13 chr 9	NC_000009.11:g.14162256dup
GRCh37.p13 chr 9	NC_000009.11:g.14162255_14162256dup

Gene: NFIB, nuclear factor I B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NFIB transcript variant 1	NM_001190737.2:c.617-6356… NM_001190737.2:c.617-6356del	N/A	Intron Variant
NFIB transcript variant 2	NM_001190738.2:c.695-6356… NM_001190738.2:c.695-6356del	N/A	Intron Variant
NFIB transcript variant 4	NM_001282787.2:c.-140-635… NM_001282787.2:c.-140-6356del	N/A	Intron Variant
NFIB transcript variant 5	NM_001369458.1:c.683-6356… NM_001369458.1:c.683-6356del	N/A	Intron Variant
NFIB transcript variant 6	NM_001369459.1:c.683-6356… NM_001369459.1:c.683-6356del	N/A	Intron Variant
NFIB transcript variant 7	NM_001369460.1:c.605-6356… NM_001369460.1:c.605-6356del	N/A	Intron Variant
NFIB transcript variant 8	NM_001369461.1:c.617-6356… NM_001369461.1:c.617-6356del	N/A	Intron Variant
NFIB transcript variant 9	NM_001369462.1:c.683-6356… NM_001369462.1:c.683-6356del	N/A	Intron Variant
NFIB transcript variant 10	NM_001369463.1:c.605-6356… NM_001369463.1:c.605-6356del	N/A	Intron Variant
NFIB transcript variant 11	NM_001369464.1:c.617-6356… NM_001369464.1:c.617-6356del	N/A	Intron Variant
NFIB transcript variant 12	NM_001369465.1:c.590-6356… NM_001369465.1:c.590-6356del	N/A	Intron Variant
NFIB transcript variant 13	NM_001369466.1:c.605-6356… NM_001369466.1:c.605-6356del	N/A	Intron Variant
NFIB transcript variant 14	NM_001369467.1:c.590-6356… NM_001369467.1:c.590-6356del	N/A	Intron Variant
NFIB transcript variant 15	NM_001369468.1:c.683-6356… NM_001369468.1:c.683-6356del	N/A	Intron Variant
NFIB transcript variant 16	NM_001369469.1:c.473-6356… NM_001369469.1:c.473-6356del	N/A	Intron Variant
NFIB transcript variant 17	NM_001369470.1:c.380-6356… NM_001369470.1:c.380-6356del	N/A	Intron Variant
NFIB transcript variant 18	NM_001369471.1:c.617-6356… NM_001369471.1:c.617-6356del	N/A	Intron Variant
NFIB transcript variant 19	NM_001369472.1:c.605-6356… NM_001369472.1:c.605-6356del	N/A	Intron Variant
NFIB transcript variant 20	NM_001369473.1:c.605-6356… NM_001369473.1:c.605-6356del	N/A	Intron Variant
NFIB transcript variant 21	NM_001369474.1:c.602-6356… NM_001369474.1:c.602-6356del	N/A	Intron Variant
NFIB transcript variant 22	NM_001369475.1:c.392-6356… NM_001369475.1:c.392-6356del	N/A	Intron Variant
NFIB transcript variant 23	NM_001369476.1:c.590-6356… NM_001369476.1:c.590-6356del	N/A	Intron Variant
NFIB transcript variant 24	NM_001369477.1:c.563-6356… NM_001369477.1:c.563-6356del	N/A	Intron Variant
NFIB transcript variant 25	NM_001369478.1:c.380-6356… NM_001369478.1:c.380-6356del	N/A	Intron Variant
NFIB transcript variant 26	NM_001369479.1:c.80-6356d… NM_001369479.1:c.80-6356del	N/A	Intron Variant
NFIB transcript variant 27	NM_001369480.1:c.80-6356d… NM_001369480.1:c.80-6356del	N/A	Intron Variant
NFIB transcript variant 3	NM_005596.3:c.617-6356del	N/A	Intron Variant
NFIB transcript variant 28	NM_001369481.1:c.	N/A	Genic Downstream Transcript Variant
NFIB transcript variant 29	NR_161382.1:n.	N/A	Intron Variant
NFIB transcript variant 30	NR_161383.1:n.	N/A	Intron Variant
NFIB transcript variant 31	NR_161384.1:n.	N/A	Intron Variant
NFIB transcript variant 32	NR_161385.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(T)₉=	delT	dupT	dupTT
GRCh38.p14 chr 9	NC_000009.12:g.14162249_14162257=	NC_000009.12:g.14162257del	NC_000009.12:g.14162257dup	NC_000009.12:g.14162256_14162257dup
GRCh37.p13 chr 9	NC_000009.11:g.14162248_14162256=	NC_000009.11:g.14162256del	NC_000009.11:g.14162256dup	NC_000009.11:g.14162255_14162256dup
NFIB transcript variant 1	NM_001190737.1:c.617-6356=	NM_001190737.1:c.617-6356del	NM_001190737.1:c.617-6356dup	NM_001190737.1:c.617-6357_617-6356dup
NFIB transcript variant 1	NM_001190737.2:c.617-6356=	NM_001190737.2:c.617-6356del	NM_001190737.2:c.617-6356dup	NM_001190737.2:c.617-6357_617-6356dup
NFIB transcript variant 2	NM_001190738.1:c.695-6356=	NM_001190738.1:c.695-6356del	NM_001190738.1:c.695-6356dup	NM_001190738.1:c.695-6357_695-6356dup
NFIB transcript variant 2	NM_001190738.2:c.695-6356=	NM_001190738.2:c.695-6356del	NM_001190738.2:c.695-6356dup	NM_001190738.2:c.695-6357_695-6356dup
NFIB transcript variant 4	NM_001282787.2:c.-140-6356=	NM_001282787.2:c.-140-6356del	NM_001282787.2:c.-140-6356dup	NM_001282787.2:c.-140-6357_-140-6356dup
NFIB transcript variant 5	NM_001369458.1:c.683-6356=	NM_001369458.1:c.683-6356del	NM_001369458.1:c.683-6356dup	NM_001369458.1:c.683-6357_683-6356dup
NFIB transcript variant 6	NM_001369459.1:c.683-6356=	NM_001369459.1:c.683-6356del	NM_001369459.1:c.683-6356dup	NM_001369459.1:c.683-6357_683-6356dup
NFIB transcript variant 7	NM_001369460.1:c.605-6356=	NM_001369460.1:c.605-6356del	NM_001369460.1:c.605-6356dup	NM_001369460.1:c.605-6357_605-6356dup
NFIB transcript variant 8	NM_001369461.1:c.617-6356=	NM_001369461.1:c.617-6356del	NM_001369461.1:c.617-6356dup	NM_001369461.1:c.617-6357_617-6356dup
NFIB transcript variant 9	NM_001369462.1:c.683-6356=	NM_001369462.1:c.683-6356del	NM_001369462.1:c.683-6356dup	NM_001369462.1:c.683-6357_683-6356dup
NFIB transcript variant 10	NM_001369463.1:c.605-6356=	NM_001369463.1:c.605-6356del	NM_001369463.1:c.605-6356dup	NM_001369463.1:c.605-6357_605-6356dup
NFIB transcript variant 11	NM_001369464.1:c.617-6356=	NM_001369464.1:c.617-6356del	NM_001369464.1:c.617-6356dup	NM_001369464.1:c.617-6357_617-6356dup
NFIB transcript variant 12	NM_001369465.1:c.590-6356=	NM_001369465.1:c.590-6356del	NM_001369465.1:c.590-6356dup	NM_001369465.1:c.590-6357_590-6356dup
NFIB transcript variant 13	NM_001369466.1:c.605-6356=	NM_001369466.1:c.605-6356del	NM_001369466.1:c.605-6356dup	NM_001369466.1:c.605-6357_605-6356dup
NFIB transcript variant 14	NM_001369467.1:c.590-6356=	NM_001369467.1:c.590-6356del	NM_001369467.1:c.590-6356dup	NM_001369467.1:c.590-6357_590-6356dup
NFIB transcript variant 15	NM_001369468.1:c.683-6356=	NM_001369468.1:c.683-6356del	NM_001369468.1:c.683-6356dup	NM_001369468.1:c.683-6357_683-6356dup
NFIB transcript variant 16	NM_001369469.1:c.473-6356=	NM_001369469.1:c.473-6356del	NM_001369469.1:c.473-6356dup	NM_001369469.1:c.473-6357_473-6356dup
NFIB transcript variant 17	NM_001369470.1:c.380-6356=	NM_001369470.1:c.380-6356del	NM_001369470.1:c.380-6356dup	NM_001369470.1:c.380-6357_380-6356dup
NFIB transcript variant 18	NM_001369471.1:c.617-6356=	NM_001369471.1:c.617-6356del	NM_001369471.1:c.617-6356dup	NM_001369471.1:c.617-6357_617-6356dup
NFIB transcript variant 19	NM_001369472.1:c.605-6356=	NM_001369472.1:c.605-6356del	NM_001369472.1:c.605-6356dup	NM_001369472.1:c.605-6357_605-6356dup
NFIB transcript variant 20	NM_001369473.1:c.605-6356=	NM_001369473.1:c.605-6356del	NM_001369473.1:c.605-6356dup	NM_001369473.1:c.605-6357_605-6356dup
NFIB transcript variant 21	NM_001369474.1:c.602-6356=	NM_001369474.1:c.602-6356del	NM_001369474.1:c.602-6356dup	NM_001369474.1:c.602-6357_602-6356dup
NFIB transcript variant 22	NM_001369475.1:c.392-6356=	NM_001369475.1:c.392-6356del	NM_001369475.1:c.392-6356dup	NM_001369475.1:c.392-6357_392-6356dup
NFIB transcript variant 23	NM_001369476.1:c.590-6356=	NM_001369476.1:c.590-6356del	NM_001369476.1:c.590-6356dup	NM_001369476.1:c.590-6357_590-6356dup
NFIB transcript variant 24	NM_001369477.1:c.563-6356=	NM_001369477.1:c.563-6356del	NM_001369477.1:c.563-6356dup	NM_001369477.1:c.563-6357_563-6356dup
NFIB transcript variant 25	NM_001369478.1:c.380-6356=	NM_001369478.1:c.380-6356del	NM_001369478.1:c.380-6356dup	NM_001369478.1:c.380-6357_380-6356dup
NFIB transcript variant 26	NM_001369479.1:c.80-6356=	NM_001369479.1:c.80-6356del	NM_001369479.1:c.80-6356dup	NM_001369479.1:c.80-6357_80-6356dup
NFIB transcript variant 27	NM_001369480.1:c.80-6356=	NM_001369480.1:c.80-6356del	NM_001369480.1:c.80-6356dup	NM_001369480.1:c.80-6357_80-6356dup
NFIB transcript variant 3	NM_005596.3:c.617-6356=	NM_005596.3:c.617-6356del	NM_005596.3:c.617-6356dup	NM_005596.3:c.617-6357_617-6356dup
NFIB transcript variant X1	XM_005251467.1:c.617-6356=	XM_005251467.1:c.617-6356del	XM_005251467.1:c.617-6356dup	XM_005251467.1:c.617-6357_617-6356dup
NFIB transcript variant X2	XM_005251468.1:c.605-6356=	XM_005251468.1:c.605-6356del	XM_005251468.1:c.605-6356dup	XM_005251468.1:c.605-6357_605-6356dup
NFIB transcript variant X4	XM_005251469.1:c.617-6356=	XM_005251469.1:c.617-6356del	XM_005251469.1:c.617-6356dup	XM_005251469.1:c.617-6357_617-6356dup
NFIB transcript variant X7	XM_005251470.1:c.617-6356=	XM_005251470.1:c.617-6356del	XM_005251470.1:c.617-6356dup	XM_005251470.1:c.617-6357_617-6356dup
NFIB transcript variant X5	XM_005251471.1:c.-140-6356=	XM_005251471.1:c.-140-6356del	XM_005251471.1:c.-140-6356dup	XM_005251471.1:c.-140-6357_-140-6356dup
NFIB transcript variant X6	XM_005251472.1:c.-140-6356=	XM_005251472.1:c.-140-6356del	XM_005251472.1:c.-140-6356dup	XM_005251472.1:c.-140-6357_-140-6356dup

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#.

40 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288948950	May 04, 2012 (138)
2	1000GENOMES	ss327126924	May 09, 2011 (134)
3	1000GENOMES	ss327196806	May 09, 2011 (134)
4	1000GENOMES	ss327550185	Jan 10, 2018 (151)
5	LUNTER	ss551917529	Apr 25, 2013 (138)
6	LUNTER	ss552145390	Apr 25, 2013 (138)
7	LUNTER	ss553369026	Apr 25, 2013 (138)
8	SSMP	ss663907909	Apr 01, 2015 (144)
9	1000GENOMES	ss1368173415	Aug 21, 2014 (142)
10	1000GENOMES	ss1368173416	Aug 21, 2014 (142)
11	EVA_GENOME_DK	ss1577338357	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1706334754	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1706334872	Apr 01, 2015 (144)
14	JJLAB	ss2030953180	Sep 14, 2016 (149)
15	SWEGEN	ss3004431231	Nov 08, 2017 (151)
16	MCHAISSO	ss3065217751	Nov 08, 2017 (151)
17	BIOINF_KMB_FNS_UNIBA	ss3646137310	Oct 12, 2018 (152)
18	EGCUT_WGS	ss3672172837	Jul 13, 2019 (153)
19	EVA_DECODE	ss3723532677	Jul 13, 2019 (153)
20	EVA_DECODE	ss3723532678	Jul 13, 2019 (153)
21	ACPOP	ss3736335582	Jul 13, 2019 (153)
22	ACPOP	ss3736335583	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3812111216	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3812111217	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3812111218	Jul 13, 2019 (153)
26	EVA	ss3831552522	Apr 26, 2020 (154)
27	KOGIC	ss3965352961	Apr 26, 2020 (154)
28	GNOMAD	ss4198064369	Apr 26, 2021 (155)
29	GNOMAD	ss4198064370	Apr 26, 2021 (155)
30	TOPMED	ss4813622529	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5192211962	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5279896722	Oct 16, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5279896723	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5476168644	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5476168645	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5735296423	Oct 16, 2022 (156)
37	YY_MCH	ss5810369383	Oct 16, 2022 (156)
38	EVA	ss5828891049	Oct 16, 2022 (156)
39	EVA	ss5856684156	Oct 16, 2022 (156)
40	EVA	ss5976238887	Oct 16, 2022 (156)
41	1000Genomes	NC_000009.11 - 14162248	Oct 12, 2018 (152)
42	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 14162248	Oct 12, 2018 (152)
43	Genetic variation in the Estonian population	NC_000009.11 - 14162248	Oct 12, 2018 (152)
44	The Danish reference pan genome	NC_000009.11 - 14162248	Apr 26, 2020 (154)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 318957402 (NC_000009.12:14162248::T 14940/139466) Row 318957403 (NC_000009.12:14162248:T: 7515/139488)	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 318957402 (NC_000009.12:14162248::T 14940/139466) Row 318957403 (NC_000009.12:14162248:T: 7515/139488)	-	Apr 26, 2021 (155)
47	Korean Genome Project	NC_000009.12 - 14162249	Apr 26, 2020 (154)
48	Northern Sweden Submission ignored due to conflicting rows: Row 9620447 (NC_000009.11:14162247::T 75/600) Row 9620448 (NC_000009.11:14162247:T: 2/600)	-	Jul 13, 2019 (153)
49	Northern Sweden Submission ignored due to conflicting rows: Row 9620447 (NC_000009.11:14162247::T 75/600) Row 9620448 (NC_000009.11:14162247:T: 2/600)	-	Jul 13, 2019 (153)
50	8.3KJPN	NC_000009.11 - 14162248	Apr 26, 2021 (155)
51	14KJPN	NC_000009.12 - 14162249	Oct 16, 2022 (156)
52	TopMed	NC_000009.12 - 14162249	Apr 26, 2021 (155)
53	UK 10K study - Twins	NC_000009.11 - 14162248	Oct 12, 2018 (152)
54	ALFA	NC_000009.12 - 14162249	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)
rs201002768	May 15, 2013 (138)
rs373856365	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss327550185, ss552145390	NC_000009.10:14152247:T:	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTT	(self)
45250877, ss1368173415, ss3004431231, ss3736335583, ss3831552522	NC_000009.11:14162247:T:	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTT	(self)
ss3723532677, ss3812111217, ss4198064370, ss5279896722, ss5476168644	NC_000009.12:14162248:T:	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTT	(self)
6264516816	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTT	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTT	(self)
ss327126924, ss327196806, ss551917529, ss553369026	NC_000009.10:14152247::T	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
ss288948950	NC_000009.10:14152256::T	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
25176401, 17911085, 1264253, 50181269, 25176401, ss663907909, ss1577338357, ss1706334754, ss1706334872, ss2030953180, ss3672172837, ss3736335582, ss5192211962, ss5828891049, ss5976238887	NC_000009.11:14162247::T	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
ss1368173416	NC_000009.11:14162248::T	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
21730962, 69133527, 651000090, ss3065217751, ss3646137310, ss3812111216, ss3965352961, ss4198064369, ss4813622529, ss5279896723, ss5476168645, ss5735296423, ss5810369383, ss5856684156	NC_000009.12:14162248::T	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
6264516816	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
ss3723532678, ss3812111218	NC_000009.12:14162249::T	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT	(self)
6264516816	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTTT	NC_000009.12:14162248:TTTTTTTTT:TT… NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTTT	(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 rs143037724

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

rs143037724