Name: rs5812437
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.

rs5812437

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:48197015-48197028 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₉ / dup(T)₁₄
Variation Type: Indel Insertion and Deletion
Frequency: (T)₁₄=0.3936 (1971/5008, 1000G)
(T)₁₄=0.1404 (630/4488, ALFA)
(T)₁₄=0.0000 (0/3854, ALSPAC) (+ 1 more)
(T)₁₄=0.0003 (1/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CTXN2-AS1 : Intron Variant
CTXN2 : 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	4488	TTTTTTTTTTTTTT=0.1404	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0013, TTTTTTTTTTTTTTT=0.8529, TTTTTTTTTTTTTTTT=0.0051, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTT=0.0000	0.045987	0.762849	0.191163	32
European	Sub	4342	TTTTTTTTTTTTTT=0.1131	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0012, TTTTTTTTTTTTTTT=0.8802, TTTTTTTTTTTTTTTT=0.0053, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTT=0.0000	0.015377	0.787512	0.197111	1
African	Sub	112	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	108	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	0	TTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 2	Sub	18	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	14	TTTTTTTTTTTTTT=0.50	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTT=0.43, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00	0.5	0.333333	0.166667	2

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
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.6064
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.3865
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.5268
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.8241
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.706
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.686
Allele Frequency Aggregator	Total	Global	4488	(T)₁₄=0.1404	delTTT=0.0000, delTT=0.0000, delT=0.0013, dupT=0.8529, dupTT=0.0051, dupTTT=0.0000, dup(T)₁₄=0.0002
Allele Frequency Aggregator	European	Sub	4342	(T)₁₄=0.1131	delTTT=0.0000, delTT=0.0000, delT=0.0012, dupT=0.8802, dupTT=0.0053, dupTTT=0.0000, dup(T)₁₄=0.0002
Allele Frequency Aggregator	African	Sub	112	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₁₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	18	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₁₄=0.00
Allele Frequency Aggregator	Other	Sub	14	(T)₁₄=0.50	delTTT=0.00, delTT=0.00, delT=0.07, dupT=0.43, dupTT=0.00, dupTTT=0.00, dup(T)₁₄=0.00
Allele Frequency Aggregator	Asian	Sub	2	(T)₁₄=1.0	delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₁₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(T)₁₄=0	delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₁₄=0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₁₄=0	delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₁₄=0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=1.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.9997

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 15	NC_000015.10:g.48197026_48197028del
GRCh38.p14 chr 15	NC_000015.10:g.48197027_48197028del
GRCh38.p14 chr 15	NC_000015.10:g.48197028del
GRCh38.p14 chr 15	NC_000015.10:g.48197028dup
GRCh38.p14 chr 15	NC_000015.10:g.48197027_48197028dup
GRCh38.p14 chr 15	NC_000015.10:g.48197026_48197028dup
GRCh38.p14 chr 15	NC_000015.10:g.48197020_48197028dup
GRCh38.p14 chr 15	NC_000015.10:g.48197015_48197028dup
GRCh37.p13 chr 15	NC_000015.9:g.48489223_48489225del
GRCh37.p13 chr 15	NC_000015.9:g.48489224_48489225del
GRCh37.p13 chr 15	NC_000015.9:g.48489225del
GRCh37.p13 chr 15	NC_000015.9:g.48489225dup
GRCh37.p13 chr 15	NC_000015.9:g.48489224_48489225dup
GRCh37.p13 chr 15	NC_000015.9:g.48489223_48489225dup
GRCh37.p13 chr 15	NC_000015.9:g.48489217_48489225dup
GRCh37.p13 chr 15	NC_000015.9:g.48489212_48489225dup

Gene: CTXN2, cortexin 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CTXN2 transcript variant 1	NM_001145668.2:c.-57-4218… NM_001145668.2:c.-57-4218_-57-4216del	N/A	Intron Variant
CTXN2 transcript variant 2	NM_001370415.1:c.-57-4218… NM_001370415.1:c.-57-4218_-57-4216del	N/A	Intron Variant
CTXN2 transcript variant 3	NM_001370416.1:c.-57-4218… NM_001370416.1:c.-57-4218_-57-4216del	N/A	Intron Variant
CTXN2 transcript variant X3	XM_006720504.3:c.-57-4218… XM_006720504.3:c.-57-4218_-57-4216del	N/A	Intron Variant
CTXN2 transcript variant X1	XM_017022178.2:c.-57-4218… XM_017022178.2:c.-57-4218_-57-4216del	N/A	Intron Variant
CTXN2 transcript variant X2	XM_047432494.1:c.-57-4218… XM_047432494.1:c.-57-4218_-57-4216del	N/A	Intron Variant

Gene: CTXN2-AS1, uncharacterized CTXN2-AS1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CTXN2-AS1 transcript variant X1	XR_007064620.1:n.	N/A	Intron Variant
CTXN2-AS1 transcript variant X2	XR_007064621.1:n.	N/A	Intron Variant
CTXN2-AS1 transcript variant X3	XR_007064622.1:n.	N/A	Intron Variant
CTXN2-AS1 transcript variant X4	XR_002957764.2:n.	N/A	Genic Upstream Transcript Variant
LOC128966560 transcript	XR_932204.4:n.	N/A	Genic Downstream 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	(T)₁₄=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₉	dup(T)₁₄
GRCh38.p14 chr 15	NC_000015.10:g.48197015_48197028=	NC_000015.10:g.48197026_48197028del	NC_000015.10:g.48197027_48197028del	NC_000015.10:g.48197028del	NC_000015.10:g.48197028dup	NC_000015.10:g.48197027_48197028dup	NC_000015.10:g.48197026_48197028dup	NC_000015.10:g.48197020_48197028dup	NC_000015.10:g.48197015_48197028dup
GRCh37.p13 chr 15	NC_000015.9:g.48489212_48489225=	NC_000015.9:g.48489223_48489225del	NC_000015.9:g.48489224_48489225del	NC_000015.9:g.48489225del	NC_000015.9:g.48489225dup	NC_000015.9:g.48489224_48489225dup	NC_000015.9:g.48489223_48489225dup	NC_000015.9:g.48489217_48489225dup	NC_000015.9:g.48489212_48489225dup
CTXN2 transcript	NM_001145668.1:c.-57-4229=	NM_001145668.1:c.-57-4218_-57-4216del	NM_001145668.1:c.-57-4217_-57-4216del	NM_001145668.1:c.-57-4216del	NM_001145668.1:c.-57-4216dup	NM_001145668.1:c.-57-4217_-57-4216dup	NM_001145668.1:c.-57-4218_-57-4216dup	NM_001145668.1:c.-57-4224_-57-4216dup	NM_001145668.1:c.-57-4229_-57-4216dup
CTXN2 transcript variant 1	NM_001145668.2:c.-57-4229=	NM_001145668.2:c.-57-4218_-57-4216del	NM_001145668.2:c.-57-4217_-57-4216del	NM_001145668.2:c.-57-4216del	NM_001145668.2:c.-57-4216dup	NM_001145668.2:c.-57-4217_-57-4216dup	NM_001145668.2:c.-57-4218_-57-4216dup	NM_001145668.2:c.-57-4224_-57-4216dup	NM_001145668.2:c.-57-4229_-57-4216dup
CTXN2 transcript variant 2	NM_001370415.1:c.-57-4229=	NM_001370415.1:c.-57-4218_-57-4216del	NM_001370415.1:c.-57-4217_-57-4216del	NM_001370415.1:c.-57-4216del	NM_001370415.1:c.-57-4216dup	NM_001370415.1:c.-57-4217_-57-4216dup	NM_001370415.1:c.-57-4218_-57-4216dup	NM_001370415.1:c.-57-4224_-57-4216dup	NM_001370415.1:c.-57-4229_-57-4216dup
CTXN2 transcript variant 3	NM_001370416.1:c.-57-4229=	NM_001370416.1:c.-57-4218_-57-4216del	NM_001370416.1:c.-57-4217_-57-4216del	NM_001370416.1:c.-57-4216del	NM_001370416.1:c.-57-4216dup	NM_001370416.1:c.-57-4217_-57-4216dup	NM_001370416.1:c.-57-4218_-57-4216dup	NM_001370416.1:c.-57-4224_-57-4216dup	NM_001370416.1:c.-57-4229_-57-4216dup
CTXN2 transcript variant X1	XM_005254377.1:c.-57-4229=	XM_005254377.1:c.-57-4218_-57-4216del	XM_005254377.1:c.-57-4217_-57-4216del	XM_005254377.1:c.-57-4216del	XM_005254377.1:c.-57-4216dup	XM_005254377.1:c.-57-4217_-57-4216dup	XM_005254377.1:c.-57-4218_-57-4216dup	XM_005254377.1:c.-57-4224_-57-4216dup	XM_005254377.1:c.-57-4229_-57-4216dup
CTXN2 transcript variant X2	XM_005254378.1:c.-57-4229=	XM_005254378.1:c.-57-4218_-57-4216del	XM_005254378.1:c.-57-4217_-57-4216del	XM_005254378.1:c.-57-4216del	XM_005254378.1:c.-57-4216dup	XM_005254378.1:c.-57-4217_-57-4216dup	XM_005254378.1:c.-57-4218_-57-4216dup	XM_005254378.1:c.-57-4224_-57-4216dup	XM_005254378.1:c.-57-4229_-57-4216dup
CTXN2 transcript variant X3	XM_005254379.1:c.-57-4229=	XM_005254379.1:c.-57-4218_-57-4216del	XM_005254379.1:c.-57-4217_-57-4216del	XM_005254379.1:c.-57-4216del	XM_005254379.1:c.-57-4216dup	XM_005254379.1:c.-57-4217_-57-4216dup	XM_005254379.1:c.-57-4218_-57-4216dup	XM_005254379.1:c.-57-4224_-57-4216dup	XM_005254379.1:c.-57-4229_-57-4216dup
CTXN2 transcript variant X3	XM_006720504.3:c.-57-4229=	XM_006720504.3:c.-57-4218_-57-4216del	XM_006720504.3:c.-57-4217_-57-4216del	XM_006720504.3:c.-57-4216del	XM_006720504.3:c.-57-4216dup	XM_006720504.3:c.-57-4217_-57-4216dup	XM_006720504.3:c.-57-4218_-57-4216dup	XM_006720504.3:c.-57-4224_-57-4216dup	XM_006720504.3:c.-57-4229_-57-4216dup
CTXN2 transcript variant X1	XM_017022178.2:c.-57-4229=	XM_017022178.2:c.-57-4218_-57-4216del	XM_017022178.2:c.-57-4217_-57-4216del	XM_017022178.2:c.-57-4216del	XM_017022178.2:c.-57-4216dup	XM_017022178.2:c.-57-4217_-57-4216dup	XM_017022178.2:c.-57-4218_-57-4216dup	XM_017022178.2:c.-57-4224_-57-4216dup	XM_017022178.2:c.-57-4229_-57-4216dup
CTXN2 transcript variant X2	XM_047432494.1:c.-57-4229=	XM_047432494.1:c.-57-4218_-57-4216del	XM_047432494.1:c.-57-4217_-57-4216del	XM_047432494.1:c.-57-4216del	XM_047432494.1:c.-57-4216dup	XM_047432494.1:c.-57-4217_-57-4216dup	XM_047432494.1:c.-57-4218_-57-4216dup	XM_047432494.1:c.-57-4224_-57-4216dup	XM_047432494.1:c.-57-4229_-57-4216dup

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#.

54 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	DEVINE_LAB	ss8073656	Mar 15, 2016 (147)
2	ABI	ss40569343	Mar 15, 2006 (126)
3	HGSV	ss78004999	Oct 12, 2018 (152)
4	HGSV	ss79924682	Oct 12, 2018 (152)
5	HUMANGENOME_JCVI	ss95657587	Oct 12, 2018 (152)
6	GMI	ss289255786	May 04, 2012 (137)
7	GMI	ss289255787	May 04, 2012 (138)
8	PJP	ss294858427	May 09, 2011 (138)
9	PJP	ss294858428	May 09, 2011 (138)
10	BILGI_BIOE	ss666647669	Apr 25, 2013 (138)
11	1000GENOMES	ss1374878345	Aug 21, 2014 (142)
12	EVA_UK10K_ALSPAC	ss1708283146	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1708283258	Apr 01, 2015 (144)
14	HAMMER_LAB	ss1808191905	Sep 08, 2015 (146)
15	HAMMER_LAB	ss1808191906	Sep 08, 2015 (146)
16	SWEGEN	ss3013240337	Nov 08, 2017 (151)
17	MCHAISSO	ss3063817496	Nov 08, 2017 (151)
18	BIOINF_KMB_FNS_UNIBA	ss3645380898	Oct 12, 2018 (152)
19	URBANLAB	ss3650347429	Oct 12, 2018 (152)
20	EVA_DECODE	ss3697841559	Jul 13, 2019 (153)
21	EVA_DECODE	ss3697841560	Jul 13, 2019 (153)
22	EVA_DECODE	ss3697841561	Jul 13, 2019 (153)
23	EVA_DECODE	ss3697841562	Jul 13, 2019 (153)
24	ACPOP	ss3740900582	Jul 13, 2019 (153)
25	ACPOP	ss3740900583	Jul 13, 2019 (153)
26	PACBIO	ss3787838417	Jul 13, 2019 (153)
27	PACBIO	ss3792851405	Jul 13, 2019 (153)
28	PACBIO	ss3797735885	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3818370853	Jul 13, 2019 (153)
30	EVA	ss3834221391	Apr 27, 2020 (154)
31	GNOMAD	ss4288323133	Apr 27, 2021 (155)
32	GNOMAD	ss4288323134	Apr 27, 2021 (155)
33	GNOMAD	ss4288323135	Apr 27, 2021 (155)
34	GNOMAD	ss4288323136	Apr 27, 2021 (155)
35	GNOMAD	ss4288323137	Apr 27, 2021 (155)
36	GNOMAD	ss4288323138	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5216072846	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5216072847	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5216072848	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5216072849	Apr 27, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5298351880	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5298351881	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5298351882	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5298351883	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5492090187	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5492090188	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5492090189	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5769844446	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5769844447	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5769844448	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5769844449	Oct 16, 2022 (156)
52	EVA	ss5828167188	Oct 16, 2022 (156)
53	EVA	ss5828167189	Oct 16, 2022 (156)
54	EVA	ss5875772083	Oct 16, 2022 (156)
55	1000Genomes	NC_000015.9 - 48489212	Oct 12, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 48489212	Oct 12, 2018 (152)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468306137 (NC_000015.10:48197014::T 100266/133146) Row 468306138 (NC_000015.10:48197014::TT 1135/133070) Row 468306139 (NC_000015.10:48197014::TTTTTTTTT 1/133186)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468306137 (NC_000015.10:48197014::T 100266/133146) Row 468306138 (NC_000015.10:48197014::TT 1135/133070) Row 468306139 (NC_000015.10:48197014::TTTTTTTTT 1/133186)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468306137 (NC_000015.10:48197014::T 100266/133146) Row 468306138 (NC_000015.10:48197014::TT 1135/133070) Row 468306139 (NC_000015.10:48197014::TTTTTTTTT 1/133186)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468306137 (NC_000015.10:48197014::T 100266/133146) Row 468306138 (NC_000015.10:48197014::TT 1135/133070) Row 468306139 (NC_000015.10:48197014::TTTTTTTTT 1/133186)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468306137 (NC_000015.10:48197014::T 100266/133146) Row 468306138 (NC_000015.10:48197014::TT 1135/133070) Row 468306139 (NC_000015.10:48197014::TTTTTTTTT 1/133186)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468306137 (NC_000015.10:48197014::T 100266/133146) Row 468306138 (NC_000015.10:48197014::TT 1135/133070) Row 468306139 (NC_000015.10:48197014::TTTTTTTTT 1/133186)...	-	Apr 27, 2021 (155)
63	Northern Sweden Submission ignored due to conflicting rows: Row 14185447 (NC_000015.9:48489211::T 531/586) Row 14185448 (NC_000015.9:48489211::TT 3/586)	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 14185447 (NC_000015.9:48489211::T 531/586) Row 14185448 (NC_000015.9:48489211::TT 3/586)	-	Jul 13, 2019 (153)
65	8.3KJPN Submission ignored due to conflicting rows: Row 74042153 (NC_000015.9:48489211::T 9130/16758) Row 74042154 (NC_000015.9:48489211:T: 6685/16758) Row 74042155 (NC_000015.9:48489211::TT 105/16758)...	-	Apr 27, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 74042153 (NC_000015.9:48489211::T 9130/16758) Row 74042154 (NC_000015.9:48489211:T: 6685/16758) Row 74042155 (NC_000015.9:48489211::TT 105/16758)...	-	Apr 27, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 74042153 (NC_000015.9:48489211::T 9130/16758) Row 74042154 (NC_000015.9:48489211:T: 6685/16758) Row 74042155 (NC_000015.9:48489211::TT 105/16758)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 74042153 (NC_000015.9:48489211::T 9130/16758) Row 74042154 (NC_000015.9:48489211:T: 6685/16758) Row 74042155 (NC_000015.9:48489211::TT 105/16758)...	-	Apr 27, 2021 (155)
69	14KJPN Submission ignored due to conflicting rows: Row 103681550 (NC_000015.10:48197014:T: 11169/28254) Row 103681551 (NC_000015.10:48197014::T 15503/28254) Row 103681552 (NC_000015.10:48197014::TT 176/28254)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 103681550 (NC_000015.10:48197014:T: 11169/28254) Row 103681551 (NC_000015.10:48197014::T 15503/28254) Row 103681552 (NC_000015.10:48197014::TT 176/28254)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 103681550 (NC_000015.10:48197014:T: 11169/28254) Row 103681551 (NC_000015.10:48197014::T 15503/28254) Row 103681552 (NC_000015.10:48197014::TT 176/28254)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 103681550 (NC_000015.10:48197014:T: 11169/28254) Row 103681551 (NC_000015.10:48197014::T 15503/28254) Row 103681552 (NC_000015.10:48197014::TT 176/28254)...	-	Oct 16, 2022 (156)
73	UK 10K study - Twins	NC_000015.9 - 48489212	Oct 12, 2018 (152)
74	ALFA	NC_000015.10 - 48197015	Apr 27, 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)
rs56328242	May 15, 2013 (138)
rs60210518	May 24, 2008 (130)
rs66468938	May 11, 2012 (137)
rs72297810	May 11, 2012 (137)
rs139030996	May 11, 2012 (137)
rs141939888	May 11, 2012 (137)
rs33984825	May 23, 2006 (127)
rs202091623	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3013240337	NC_000015.9:48489211:TTT:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4288323138	NC_000015.10:48197014:TTT:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5216072849	NC_000015.9:48489211:TT:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4288323137, ss5298351882, ss5492090189, ss5769844449	NC_000015.10:48197014:TT:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss289255786	NC_000015.8:46276503:T:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1808191906, ss5216072847	NC_000015.9:48489211:T:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3063817496, ss3697841559, ss4288323136, ss5298351881, ss5492090188, ss5769844446	NC_000015.10:48197014:T:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss8073656	NT_010194.17:19279781:T:	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss294858427	NC_000015.8:46276510::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss294858428	NC_000015.8:46276511::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss289255787	NC_000015.8:46276517::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
66428438, 36874313, 36874313, ss666647669, ss1374878345, ss1708283146, ss1708283258, ss1808191905, ss3740900582, ss3787838417, ss3792851405, ss3797735885, ss3834221391, ss5216072846, ss5828167188	NC_000015.9:48489211::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3645380898, ss3650347429, ss3818370853, ss4288323133, ss5298351880, ss5492090187, ss5769844447, ss5875772083	NC_000015.10:48197014::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3697841560	NC_000015.10:48197015::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss40569343	NT_010194.17:19279768::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss78004999, ss79924682, ss95657587	NT_010194.17:19279782::T	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3740900583, ss5216072848, ss5828167189	NC_000015.9:48489211::TT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4288323134, ss5298351883, ss5769844448	NC_000015.10:48197014::TT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3697841561	NC_000015.10:48197015::TT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4288323135	NC_000015.10:48197014::TTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3697841562	NC_000015.10:48197015::TTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
1442024406	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3226953600	NC_000015.10:48197014::TTT	NC_000015.10:48197014:TTTTTTTTTTTT… NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

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

No publications for rs5812437

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

rs5812437