Name: rs112781467
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.

rs112781467

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:96522723-96522732 (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: delCC / delC / dupC / dupCC / dupC…
delCC / delC / dupC / dupCC / dupCCC / dup(C)₄
Variation Type: Indel Insertion and Deletion
Frequency: delC=0.2030 (1295/6378, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEM1 : Intron Variant
LOC105375412 : 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	6378	CCCCCCCCCC=0.6262	CCCCCCCC=0.0017, CCCCCCCCC=0.2030, CCCCCCCCCCC=0.1632, CCCCCCCCCCCC=0.0058, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	0.665215	0.11798	0.216805	32
European	Sub	5578	CCCCCCCCCC=0.5731	CCCCCCCC=0.0020, CCCCCCCCC=0.2320, CCCCCCCCCCC=0.1863, CCCCCCCCCCCC=0.0066, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	0.59505	0.142707	0.262243	32
African	Sub	418	CCCCCCCCCC=1.000	CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
African Others	Sub	18	CCCCCCCCCC=1.00	CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
African American	Sub	400	CCCCCCCCCC=1.000	CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
Asian	Sub	56	CCCCCCCCCC=1.00	CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	40	CCCCCCCCCC=1.00	CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	CCCCCCCCCC=1.00	CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	14	CCCCCCCCCC=1.00	CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	190	CCCCCCCCCC=1.000	CCCCCCCC=0.000, CCCCCCCCC=0.000, CCCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	18	CCCCCCCCCC=1.00	CCCCCCCC=0.00, CCCCCCCCC=0.00, CCCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	0.0	0.0	N/A
Other	Sub	104	CCCCCCCCCC=0.971	CCCCCCCC=0.000, CCCCCCCCC=0.010, CCCCCCCCCCC=0.019, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=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
Allele Frequency Aggregator	Total	Global	6378	(C)₁₀=0.6262	delCC=0.0017, delC=0.2030, dupC=0.1632, dupCC=0.0058, dupCCC=0.0000, dup(C)₄=0.0000
Allele Frequency Aggregator	European	Sub	5578	(C)₁₀=0.5731	delCC=0.0020, delC=0.2320, dupC=0.1863, dupCC=0.0066, dupCCC=0.0000, dup(C)₄=0.0000
Allele Frequency Aggregator	African	Sub	418	(C)₁₀=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	190	(C)₁₀=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000
Allele Frequency Aggregator	Other	Sub	104	(C)₁₀=0.971	delCC=0.000, delC=0.010, dupC=0.019, dupCC=0.000, dupCCC=0.000, dup(C)₄=0.000
Allele Frequency Aggregator	Asian	Sub	56	(C)₁₀=1.00	delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	18	(C)₁₀=1.00	delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	14	(C)₁₀=1.00	delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00, dup(C)₄=0.00

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 7	NC_000007.14:g.96522731_96522732del
GRCh38.p14 chr 7	NC_000007.14:g.96522732del
GRCh38.p14 chr 7	NC_000007.14:g.96522732dup
GRCh38.p14 chr 7	NC_000007.14:g.96522731_96522732dup
GRCh38.p14 chr 7	NC_000007.14:g.96522730_96522732dup
GRCh38.p14 chr 7	NC_000007.14:g.96522729_96522732dup
GRCh37.p13 chr 7	NC_000007.13:g.96152043_96152044del
GRCh37.p13 chr 7	NC_000007.13:g.96152044del
GRCh37.p13 chr 7	NC_000007.13:g.96152044dup
GRCh37.p13 chr 7	NC_000007.13:g.96152043_96152044dup
GRCh37.p13 chr 7	NC_000007.13:g.96152042_96152044dup
GRCh37.p13 chr 7	NC_000007.13:g.96152041_96152044dup
SEM1 RefSeqGene	NG_009273.2:g.192168_192169del
SEM1 RefSeqGene	NG_009273.2:g.192169del
SEM1 RefSeqGene	NG_009273.2:g.192169dup
SEM1 RefSeqGene	NG_009273.2:g.192168_192169dup
SEM1 RefSeqGene	NG_009273.2:g.192167_192169dup
SEM1 RefSeqGene	NG_009273.2:g.192166_192169dup

Gene: SEM1, SEM1 26S proteasome subunit (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEM1 transcript variant 9	NM_001393898.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 10	NM_001393899.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 11	NM_001393900.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 12	NM_001393901.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 13	NM_001393902.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 14	NM_001393903.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 15	NM_001393904.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 16	NM_001393905.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 17	NM_001393906.1:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 5	NM_006304.2:c.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant 1	NR_163950.1:n.	N/A	Intron Variant
SEM1 transcript variant 2	NR_163951.1:n.	N/A	Intron Variant
SEM1 transcript variant 3	NR_163952.1:n.	N/A	Intron Variant
SEM1 transcript variant 4	NR_163953.1:n.	N/A	Intron Variant
SEM1 transcript variant 6	NR_163948.1:n.	N/A	Genic Upstream Transcript Variant
SEM1 transcript variant 7	NR_163949.1:n.	N/A	Genic Upstream Transcript Variant
SEM1 transcript variant 8	NR_038948.2:n.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant X1	XR_007060159.1:n.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant X2	XR_007060160.1:n.	N/A	Genic Downstream Transcript Variant
SEM1 transcript variant X3	XR_007060161.1:n.	N/A	Genic Downstream Transcript Variant

Gene: LOC105375412, uncharacterized LOC105375412 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375412 transcript	XR_927781.3: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	(C)₁₀=	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄
GRCh38.p14 chr 7	NC_000007.14:g.96522723_96522732=	NC_000007.14:g.96522731_96522732del	NC_000007.14:g.96522732del	NC_000007.14:g.96522732dup	NC_000007.14:g.96522731_96522732dup	NC_000007.14:g.96522730_96522732dup	NC_000007.14:g.96522729_96522732dup
GRCh37.p13 chr 7	NC_000007.13:g.96152035_96152044=	NC_000007.13:g.96152043_96152044del	NC_000007.13:g.96152044del	NC_000007.13:g.96152044dup	NC_000007.13:g.96152043_96152044dup	NC_000007.13:g.96152042_96152044dup	NC_000007.13:g.96152041_96152044dup
SEM1 RefSeqGene	NG_009273.2:g.192160_192169=	NG_009273.2:g.192168_192169del	NG_009273.2:g.192169del	NG_009273.2:g.192169dup	NG_009273.2:g.192168_192169dup	NG_009273.2:g.192167_192169dup	NG_009273.2:g.192166_192169dup

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#.

52 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42985075	Oct 12, 2018 (152)
2	BUSHMAN	ss193934705	Jul 04, 2010 (132)
3	1000GENOMES	ss327020422	May 09, 2011 (137)
4	1000GENOMES	ss327315128	May 09, 2011 (137)
5	LUNTER	ss551764013	Apr 25, 2013 (138)
6	LUNTER	ss551968090	Apr 25, 2013 (138)
7	BILGI_BIOE	ss666408811	Apr 25, 2013 (138)
8	EVA_UK10K_ALSPAC	ss1705740261	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1705740695	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710338234	Oct 12, 2018 (152)
11	EVA_UK10K_TWINSUK	ss1710342378	Oct 12, 2018 (152)
12	HAMMER_LAB	ss1805123639	Sep 08, 2015 (146)
13	SYSTEMSBIOZJU	ss2626790617	Nov 08, 2017 (151)
14	SWEGEN	ss3001670025	Jan 10, 2018 (151)
15	BIOINF_KMB_FNS_UNIBA	ss3646045248	Oct 12, 2018 (152)
16	EVA_DECODE	ss3720255697	Jul 13, 2019 (153)
17	EVA_DECODE	ss3720255698	Jul 13, 2019 (153)
18	EVA_DECODE	ss3720255699	Jul 13, 2019 (153)
19	EVA_DECODE	ss3720255700	Jul 13, 2019 (153)
20	EVA_DECODE	ss3720255706	Jul 13, 2019 (153)
21	ACPOP	ss3734883117	Jul 13, 2019 (153)
22	ACPOP	ss3734883118	Jul 13, 2019 (153)
23	ACPOP	ss3734883119	Jul 13, 2019 (153)
24	ACPOP	ss3734883120	Jul 13, 2019 (153)
25	PACBIO	ss3785899261	Jul 13, 2019 (153)
26	PACBIO	ss3791188703	Jul 13, 2019 (153)
27	PACBIO	ss3796068699	Jul 13, 2019 (153)
28	EVA	ss3830711385	Apr 26, 2020 (154)
29	EVA	ss3838854548	Apr 26, 2020 (154)
30	EVA	ss3844309557	Apr 26, 2020 (154)
31	GNOMAD	ss4168977343	Apr 26, 2021 (155)
32	GNOMAD	ss4168977344	Apr 26, 2021 (155)
33	GNOMAD	ss4168977345	Apr 26, 2021 (155)
34	GNOMAD	ss4168977346	Apr 26, 2021 (155)
35	GNOMAD	ss4168977348	Apr 26, 2021 (155)
36	GNOMAD	ss4168977349	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5184556043	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5184556044	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5184556045	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5273951268	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5273951269	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5273951270	Oct 13, 2022 (156)
43	HUGCELL_USP	ss5470931998	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5470931999	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5470932000	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5470932001	Oct 13, 2022 (156)
47	TOMMO_GENOMICS	ss5725232207	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5725232208	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5725232209	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5725232211	Oct 13, 2022 (156)
51	EVA	ss5823224893	Oct 13, 2022 (156)
52	EVA	ss5823224894	Oct 13, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 21291758 (NC_000007.13:96152034:C: 1151/3854) Row 21291759 (NC_000007.13:96152034::C 1248/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 21291758 (NC_000007.13:96152034:C: 1151/3854) Row 21291759 (NC_000007.13:96152034::C 1248/3854)	-	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269984413 (NC_000007.14:96522722::C 33526/111334) Row 269984414 (NC_000007.14:96522722::CC 3822/112078) Row 269984415 (NC_000007.14:96522722::CCC 727/112244)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269984413 (NC_000007.14:96522722::C 33526/111334) Row 269984414 (NC_000007.14:96522722::CC 3822/112078) Row 269984415 (NC_000007.14:96522722::CCC 727/112244)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269984413 (NC_000007.14:96522722::C 33526/111334) Row 269984414 (NC_000007.14:96522722::CC 3822/112078) Row 269984415 (NC_000007.14:96522722::CCC 727/112244)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269984413 (NC_000007.14:96522722::C 33526/111334) Row 269984414 (NC_000007.14:96522722::CC 3822/112078) Row 269984415 (NC_000007.14:96522722::CCC 727/112244)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269984413 (NC_000007.14:96522722::C 33526/111334) Row 269984414 (NC_000007.14:96522722::CC 3822/112078) Row 269984415 (NC_000007.14:96522722::CCC 727/112244)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 269984413 (NC_000007.14:96522722::C 33526/111334) Row 269984414 (NC_000007.14:96522722::CC 3822/112078) Row 269984415 (NC_000007.14:96522722::CCC 727/112244)...	-	Apr 26, 2021 (155)
61	Northern Sweden Submission ignored due to conflicting rows: Row 8167982 (NC_000007.13:96152034::C 87/590) Row 8167983 (NC_000007.13:96152034:C: 209/590) Row 8167984 (NC_000007.13:96152034:CC: 8/590)...	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 8167982 (NC_000007.13:96152034::C 87/590) Row 8167983 (NC_000007.13:96152034:C: 209/590) Row 8167984 (NC_000007.13:96152034:CC: 8/590)...	-	Jul 13, 2019 (153)
63	Northern Sweden Submission ignored due to conflicting rows: Row 8167982 (NC_000007.13:96152034::C 87/590) Row 8167983 (NC_000007.13:96152034:C: 209/590) Row 8167984 (NC_000007.13:96152034:CC: 8/590)...	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 8167982 (NC_000007.13:96152034::C 87/590) Row 8167983 (NC_000007.13:96152034:C: 209/590) Row 8167984 (NC_000007.13:96152034:CC: 8/590)...	-	Jul 13, 2019 (153)
65	8.3KJPN Submission ignored due to conflicting rows: Row 42525350 (NC_000007.13:96152034::CC 349/16170) Row 42525351 (NC_000007.13:96152034::C 1338/16170) Row 42525352 (NC_000007.13:96152034:C: 1240/16170)	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 42525350 (NC_000007.13:96152034::CC 349/16170) Row 42525351 (NC_000007.13:96152034::C 1338/16170) Row 42525352 (NC_000007.13:96152034:C: 1240/16170)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 42525350 (NC_000007.13:96152034::CC 349/16170) Row 42525351 (NC_000007.13:96152034::C 1338/16170) Row 42525352 (NC_000007.13:96152034:C: 1240/16170)	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 59069311 (NC_000007.14:96522722:C: 1973/28234) Row 59069312 (NC_000007.14:96522722::C 2115/28234) Row 59069313 (NC_000007.14:96522722::CC 562/28234)...	-	Oct 13, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 59069311 (NC_000007.14:96522722:C: 1973/28234) Row 59069312 (NC_000007.14:96522722::C 2115/28234) Row 59069313 (NC_000007.14:96522722::CC 562/28234)...	-	Oct 13, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 59069311 (NC_000007.14:96522722:C: 1973/28234) Row 59069312 (NC_000007.14:96522722::C 2115/28234) Row 59069313 (NC_000007.14:96522722::CC 562/28234)...	-	Oct 13, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 59069311 (NC_000007.14:96522722:C: 1973/28234) Row 59069312 (NC_000007.14:96522722::C 2115/28234) Row 59069313 (NC_000007.14:96522722::CC 562/28234)...	-	Oct 13, 2022 (156)
72	UK 10K study - Twins Submission ignored due to conflicting rows: Row 21291758 (NC_000007.13:96152034:C: 1107/3708) Row 21291759 (NC_000007.13:96152034::C 1257/3708)	-	Oct 12, 2018 (152)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 21291758 (NC_000007.13:96152034:C: 1107/3708) Row 21291759 (NC_000007.13:96152034::C 1257/3708)	-	Oct 12, 2018 (152)
74	ALFA	NC_000007.14 - 96522723	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)
rs144036297	May 04, 2012 (137)
rs374569830	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3001670025, ss3734883119	NC_000007.13:96152034:CC:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCC	(self)
ss3720255700, ss4168977349, ss5470932001	NC_000007.14:96522722:CC:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCC	(self)
8985920871	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCC	(self)
ss327020422, ss327315128, ss551764013, ss551968090	NC_000007.12:95989970:C:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	(self)
ss666408811, ss1705740261, ss1705740695, ss1805123639, ss3734883118, ss3830711385, ss3838854548, ss5184556045, ss5823224893	NC_000007.13:96152034:C:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	(self)
ss3646045248, ss3844309557, ss4168977348, ss5273951268, ss5470931998, ss5725232207	NC_000007.14:96522722:C:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	(self)
8985920871	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	(self)
ss3720255699	NC_000007.14:96522723:C:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	(self)
ss193934705	NT_007933.16:34015943:C:	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCC	(self)
ss2626790617, ss3734883117, ss3785899261, ss3791188703, ss3796068699, ss5184556044, ss5823224894	NC_000007.13:96152034::C	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss1710338234, ss1710342378	NC_000007.13:96152035::C	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss4168977343, ss5273951270, ss5470931999, ss5725232208	NC_000007.14:96522722::C	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	(self)
8985920871	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss3720255698	NC_000007.14:96522724::C	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss42985075	NT_007933.15:34184887::C	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCC	(self)
ss3734883120, ss5184556043	NC_000007.13:96152034::CC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4168977344, ss5273951269, ss5470932000, ss5725232209	NC_000007.14:96522722::CC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC	(self)
8985920871	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3720255697	NC_000007.14:96522724::CC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3720255706	NC_000007.14:96522732::CC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4168977345, ss5725232211	NC_000007.14:96522722::CCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCC	(self)
8985920871	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4168977346	NC_000007.14:96522722::CCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCCC	(self)
8985920871	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCCC	NC_000007.14:96522722:CCCCCCCCCC:C… NC_000007.14:96522722:CCCCCCCCCC:CCCCCCCCCCCCCC	(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 rs112781467

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

rs112781467