Name: rs112667532
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.

rs112667532

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:95004696-95004712 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₆ / del(T)₅ / del(T)₄ / delT…
del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₅ / dup(T)₆ / dup(T)₈ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₆=0.000011 (3/264690, TOPMED)
dupT=0.11512 (1159/10068, ALFA)
dupT=0.2214 (1109/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NDUFA12 : 2KB Upstream 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	10068	TTTTTTTTTTTTTTTTT=0.88300	TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.11512, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00020, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00030, TTTTTTTTTTTTTTTTTTTTTTT=0.00020, TTTTTTTTTTTTTTTTTTT=0.00119, TTTTTTTTTTTTTTTTTTTT=0.00000	0.82014	0.050249	0.129611	32
European	Sub	7916	TTTTTTTTTTTTTTTTT=0.8514	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.1462, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTTTT=0.0000	0.771262	0.063722	0.165017	32
African	Sub	1546	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	64	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1482	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	62	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	46	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	68	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	252	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	32	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	192	TTTTTTTTTTTTTTTTT=0.990	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.010, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	0.989583	0.010417	0.0	32

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	(T)₁₇=0.999989	del(T)₆=0.000011
Allele Frequency Aggregator	Total	Global	10068	(T)₁₇=0.88300	del(T)₆=0.00000, del(T)₅=0.00000, delTT=0.00000, delT=0.00000, dupT=0.11512, dupTT=0.00119, dupTTT=0.00000, dup(T)₆=0.00020, dup(T)₁₀=0.00020, dup(T)₁₁=0.00030
Allele Frequency Aggregator	European	Sub	7916	(T)₁₇=0.8514	del(T)₆=0.0000, del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.1462, dupTT=0.0015, dupTTT=0.0000, dup(T)₆=0.0003, dup(T)₁₀=0.0003, dup(T)₁₁=0.0004
Allele Frequency Aggregator	African	Sub	1546	(T)₁₇=1.0000	del(T)₆=0.0000, del(T)₅=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₆=0.0000, dup(T)₁₀=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	252	(T)₁₇=1.000	del(T)₆=0.000, del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₆=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	192	(T)₁₇=0.990	del(T)₆=0.000, del(T)₅=0.000, delTT=0.000, delT=0.000, dupT=0.010, dupTT=0.000, dupTTT=0.000, dup(T)₆=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Latin American 1	Sub	68	(T)₁₇=1.00	del(T)₆=0.00, del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₆=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	Asian	Sub	62	(T)₁₇=1.00	del(T)₆=0.00, del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₆=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	32	(T)₁₇=1.00	del(T)₆=0.00, del(T)₅=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₆=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.2214
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.1702
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.2242
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.2684
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.242
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.218

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 12	NC_000012.12:g.95004707_95004712del
GRCh38.p14 chr 12	NC_000012.12:g.95004708_95004712del
GRCh38.p14 chr 12	NC_000012.12:g.95004709_95004712del
GRCh38.p14 chr 12	NC_000012.12:g.95004710_95004712del
GRCh38.p14 chr 12	NC_000012.12:g.95004711_95004712del
GRCh38.p14 chr 12	NC_000012.12:g.95004712del
GRCh38.p14 chr 12	NC_000012.12:g.95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004711_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004710_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004708_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004707_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004705_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004703_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004702_95004712dup
GRCh38.p14 chr 12	NC_000012.12:g.95004701_95004712dup
GRCh37.p13 chr 12	NC_000012.11:g.95398483_95398488del
GRCh37.p13 chr 12	NC_000012.11:g.95398484_95398488del
GRCh37.p13 chr 12	NC_000012.11:g.95398485_95398488del
GRCh37.p13 chr 12	NC_000012.11:g.95398486_95398488del
GRCh37.p13 chr 12	NC_000012.11:g.95398487_95398488del
GRCh37.p13 chr 12	NC_000012.11:g.95398488del
GRCh37.p13 chr 12	NC_000012.11:g.95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398487_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398486_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398484_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398483_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398481_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398479_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398478_95398488dup
GRCh37.p13 chr 12	NC_000012.11:g.95398477_95398488dup
NDUFA12 RefSeqGene	NG_032672.1:g.4013_4018del
NDUFA12 RefSeqGene	NG_032672.1:g.4014_4018del
NDUFA12 RefSeqGene	NG_032672.1:g.4015_4018del
NDUFA12 RefSeqGene	NG_032672.1:g.4016_4018del
NDUFA12 RefSeqGene	NG_032672.1:g.4017_4018del
NDUFA12 RefSeqGene	NG_032672.1:g.4018del
NDUFA12 RefSeqGene	NG_032672.1:g.4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4017_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4016_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4014_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4013_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4011_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4009_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4008_4018dup
NDUFA12 RefSeqGene	NG_032672.1:g.4007_4018dup

Gene: NDUFA12, NADH:ubiquinone oxidoreductase subunit A12 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFA12 transcript variant 2	NM_001258338.2:c.	N/A	Upstream Transcript Variant
NDUFA12 transcript variant 1	NM_018838.5:c.	N/A	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	(T)₁₇=	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₅	dup(T)₆	dup(T)₈	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂
GRCh38.p14 chr 12	NC_000012.12:g.95004696_95004712=	NC_000012.12:g.95004707_95004712del	NC_000012.12:g.95004708_95004712del	NC_000012.12:g.95004709_95004712del	NC_000012.12:g.95004710_95004712del	NC_000012.12:g.95004711_95004712del	NC_000012.12:g.95004712del	NC_000012.12:g.95004712dup	NC_000012.12:g.95004711_95004712dup	NC_000012.12:g.95004710_95004712dup	NC_000012.12:g.95004708_95004712dup	NC_000012.12:g.95004707_95004712dup	NC_000012.12:g.95004705_95004712dup	NC_000012.12:g.95004703_95004712dup	NC_000012.12:g.95004702_95004712dup	NC_000012.12:g.95004701_95004712dup
GRCh37.p13 chr 12	NC_000012.11:g.95398472_95398488=	NC_000012.11:g.95398483_95398488del	NC_000012.11:g.95398484_95398488del	NC_000012.11:g.95398485_95398488del	NC_000012.11:g.95398486_95398488del	NC_000012.11:g.95398487_95398488del	NC_000012.11:g.95398488del	NC_000012.11:g.95398488dup	NC_000012.11:g.95398487_95398488dup	NC_000012.11:g.95398486_95398488dup	NC_000012.11:g.95398484_95398488dup	NC_000012.11:g.95398483_95398488dup	NC_000012.11:g.95398481_95398488dup	NC_000012.11:g.95398479_95398488dup	NC_000012.11:g.95398478_95398488dup	NC_000012.11:g.95398477_95398488dup
NDUFA12 RefSeqGene	NG_032672.1:g.4002_4018=	NG_032672.1:g.4013_4018del	NG_032672.1:g.4014_4018del	NG_032672.1:g.4015_4018del	NG_032672.1:g.4016_4018del	NG_032672.1:g.4017_4018del	NG_032672.1:g.4018del	NG_032672.1:g.4018dup	NG_032672.1:g.4017_4018dup	NG_032672.1:g.4016_4018dup	NG_032672.1:g.4014_4018dup	NG_032672.1:g.4013_4018dup	NG_032672.1:g.4011_4018dup	NG_032672.1:g.4009_4018dup	NG_032672.1:g.4008_4018dup	NG_032672.1:g.4007_4018dup

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#.

46 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193292170	Jul 04, 2010 (132)
2	SSIP	ss947303297	Aug 21, 2014 (142)
3	1000GENOMES	ss1372473278	Aug 21, 2014 (142)
4	SWEGEN	ss3010169364	Nov 08, 2017 (151)
5	SWEGEN	ss3010169365	Nov 08, 2017 (151)
6	MCHAISSO	ss3064571454	Nov 08, 2017 (151)
7	EVA_DECODE	ss3694245032	Jul 13, 2019 (153)
8	EVA_DECODE	ss3694245033	Jul 13, 2019 (153)
9	EVA_DECODE	ss3694245034	Jul 13, 2019 (153)
10	EVA_DECODE	ss3694245035	Jul 13, 2019 (153)
11	EVA_DECODE	ss3694245036	Jul 13, 2019 (153)
12	EVA_DECODE	ss3694245037	Jul 13, 2019 (153)
13	PACBIO	ss3787305827	Jul 13, 2019 (153)
14	KHV_HUMAN_GENOMES	ss3816166578	Jul 13, 2019 (153)
15	EVA	ss3833270940	Apr 27, 2020 (154)
16	KOGIC	ss3972504062	Apr 27, 2020 (154)
17	KOGIC	ss3972504063	Apr 27, 2020 (154)
18	KOGIC	ss3972504064	Apr 27, 2020 (154)
19	KOGIC	ss3972504065	Apr 27, 2020 (154)
20	GNOMAD	ss4257104896	Apr 26, 2021 (155)
21	GNOMAD	ss4257104897	Apr 26, 2021 (155)
22	GNOMAD	ss4257104898	Apr 26, 2021 (155)
23	GNOMAD	ss4257104899	Apr 26, 2021 (155)
24	GNOMAD	ss4257104900	Apr 26, 2021 (155)
25	GNOMAD	ss4257104901	Apr 26, 2021 (155)
26	GNOMAD	ss4257104902	Apr 26, 2021 (155)
27	GNOMAD	ss4257104903	Apr 26, 2021 (155)
28	TOPMED	ss4928960566	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5207667005	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5207667006	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5207667007	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5207667008	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5207667009	Apr 26, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5291850413	Oct 16, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5291850414	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5291850415	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5486490090	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5486490091	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5486490092	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5486490093	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5757844056	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5757844057	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5757844058	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5757844059	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5757844060	Oct 16, 2022 (156)
46	EVA	ss5850500175	Oct 16, 2022 (156)
47	1000Genomes	NC_000012.11 - 95398472	Oct 12, 2018 (152)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416156721 (NC_000012.12:95004695::T 37450/121218) Row 416156722 (NC_000012.12:95004695::TT 774/121292) Row 416156723 (NC_000012.12:95004695::TTT 4/121302)...	-	Apr 26, 2021 (155)
57	Korean Genome Project Submission ignored due to conflicting rows: Row 28882063 (NC_000012.12:95004700:T: 122/1828) Row 28882064 (NC_000012.12:95004701::T 549/1828) Row 28882065 (NC_000012.12:95004701::TT 37/1828)...	-	Apr 27, 2020 (154)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 28882063 (NC_000012.12:95004700:T: 122/1828) Row 28882064 (NC_000012.12:95004701::T 549/1828) Row 28882065 (NC_000012.12:95004701::TT 37/1828)...	-	Apr 27, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 28882063 (NC_000012.12:95004700:T: 122/1828) Row 28882064 (NC_000012.12:95004701::T 549/1828) Row 28882065 (NC_000012.12:95004701::TT 37/1828)...	-	Apr 27, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 28882063 (NC_000012.12:95004700:T: 122/1828) Row 28882064 (NC_000012.12:95004701::T 549/1828) Row 28882065 (NC_000012.12:95004701::TT 37/1828)...	-	Apr 27, 2020 (154)
61	8.3KJPN Submission ignored due to conflicting rows: Row 65636312 (NC_000012.11:95398471::T 4079/16744) Row 65636313 (NC_000012.11:95398471:T: 60/16744) Row 65636314 (NC_000012.11:95398471::TT 254/16744)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 65636312 (NC_000012.11:95398471::T 4079/16744) Row 65636313 (NC_000012.11:95398471:T: 60/16744) Row 65636314 (NC_000012.11:95398471::TT 254/16744)...	-	Apr 26, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 65636312 (NC_000012.11:95398471::T 4079/16744) Row 65636313 (NC_000012.11:95398471:T: 60/16744) Row 65636314 (NC_000012.11:95398471::TT 254/16744)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 65636312 (NC_000012.11:95398471::T 4079/16744) Row 65636313 (NC_000012.11:95398471:T: 60/16744) Row 65636314 (NC_000012.11:95398471::TT 254/16744)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 65636312 (NC_000012.11:95398471::T 4079/16744) Row 65636313 (NC_000012.11:95398471:T: 60/16744) Row 65636314 (NC_000012.11:95398471::TT 254/16744)...	-	Apr 26, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 91681160 (NC_000012.12:95004695::T 6980/28258) Row 91681161 (NC_000012.12:95004695::TT 463/28258) Row 91681162 (NC_000012.12:95004695:T: 90/28258)...	-	Oct 16, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 91681160 (NC_000012.12:95004695::T 6980/28258) Row 91681161 (NC_000012.12:95004695::TT 463/28258) Row 91681162 (NC_000012.12:95004695:T: 90/28258)...	-	Oct 16, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 91681160 (NC_000012.12:95004695::T 6980/28258) Row 91681161 (NC_000012.12:95004695::TT 463/28258) Row 91681162 (NC_000012.12:95004695:T: 90/28258)...	-	Oct 16, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 91681160 (NC_000012.12:95004695::T 6980/28258) Row 91681161 (NC_000012.12:95004695::TT 463/28258) Row 91681162 (NC_000012.12:95004695:T: 90/28258)...	-	Oct 16, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 91681160 (NC_000012.12:95004695::T 6980/28258) Row 91681161 (NC_000012.12:95004695::TT 463/28258) Row 91681162 (NC_000012.12:95004695:T: 90/28258)...	-	Oct 16, 2022 (156)
71	TopMed	NC_000012.12 - 95004696	Apr 26, 2021 (155)
72	ALFA	NC_000012.12 - 95004696	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5207667008	NC_000012.11:95398471:TTTTTT:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
144506223, ss3972504065, ss4928960566, ss5757844059	NC_000012.12:95004695:TTTTTT:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4257104903	NC_000012.12:95004695:TTTT:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4257104902, ss5486490093	NC_000012.12:95004695:TTT:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3694245032, ss4257104901	NC_000012.12:95004695:TT:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3787305827, ss5207667006	NC_000012.11:95398471:T:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5291850414, ss5486490091, ss5757844058, ss5850500175	NC_000012.12:95004695:T:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3694245033	NC_000012.12:95004696:T:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3972504062	NC_000012.12:95004700:T:	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
58997288, ss1372473278, ss3010169364, ss3833270940, ss5207667005	NC_000012.11:95398471::T	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss947303297	NC_000012.11:95398472::T	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3064571454, ss3816166578, ss4257104896, ss5291850413, ss5486490090, ss5757844056	NC_000012.12:95004695::T	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3694245034	NC_000012.12:95004697::T	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3972504063	NC_000012.12:95004701::T	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss193292170	NT_029419.13:57769443::T	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3010169365, ss5207667007	NC_000012.11:95398471::TT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4257104897, ss5291850415, ss5486490092, ss5757844057	NC_000012.12:95004695::TT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3694245035	NC_000012.12:95004697::TT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3972504064	NC_000012.12:95004701::TT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5207667009	NC_000012.11:95398471::TTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4257104898, ss5757844060	NC_000012.12:95004695::TTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3694245036	NC_000012.12:95004697::TTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4257104899	NC_000012.12:95004695::TTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4257104900	NC_000012.12:95004695::TTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2249206860	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3694245037	NC_000012.12:95004697::TTTTTTTTTTTT	NC_000012.12:95004695:TTTTTTTTTTTT… NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs112667532

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

rs112667532