Name: rs10654978
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.

rs10654978

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:94996820-94996835 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.0000 (0/1490, ALFA)
delA=0.0000 (0/1490, ALFA)
dupA=0.0000 (0/1490, ALFA) (+ 2 more)
dupAA=0.0000 (0/1490, ALFA)
dupAAA=0.0000 (0/1490, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NDUFA12 : 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	HWEP
Total	Global	1490	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1180	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	90	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
African American	Sub	88	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Asian	Sub	40	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	30	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	10	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	20	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	92	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	10	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Other	Sub	58	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	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	1490	(A)₁₆=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	1180	(A)₁₆=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	92	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	African	Sub	90	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	58	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	40	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	10	(A)₁₆=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0

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.94996833_94996835del
GRCh38.p14 chr 12	NC_000012.12:g.94996834_94996835del
GRCh38.p14 chr 12	NC_000012.12:g.94996835del
GRCh38.p14 chr 12	NC_000012.12:g.94996835dup
GRCh38.p14 chr 12	NC_000012.12:g.94996834_94996835dup
GRCh38.p14 chr 12	NC_000012.12:g.94996833_94996835dup
GRCh38.p14 chr 12	NC_000012.12:g.94996832_94996835dup
GRCh37.p13 chr 12	NC_000012.11:g.95390609_95390611del
GRCh37.p13 chr 12	NC_000012.11:g.95390610_95390611del
GRCh37.p13 chr 12	NC_000012.11:g.95390611del
GRCh37.p13 chr 12	NC_000012.11:g.95390611dup
GRCh37.p13 chr 12	NC_000012.11:g.95390610_95390611dup
GRCh37.p13 chr 12	NC_000012.11:g.95390609_95390611dup
GRCh37.p13 chr 12	NC_000012.11:g.95390608_95390611dup
NDUFA12 RefSeqGene	NG_032672.1:g.11892_11894del
NDUFA12 RefSeqGene	NG_032672.1:g.11893_11894del
NDUFA12 RefSeqGene	NG_032672.1:g.11894del
NDUFA12 RefSeqGene	NG_032672.1:g.11894dup
NDUFA12 RefSeqGene	NG_032672.1:g.11893_11894dup
NDUFA12 RefSeqGene	NG_032672.1:g.11892_11894dup
NDUFA12 RefSeqGene	NG_032672.1:g.11891_11894dup

Gene: NDUFA12, NADH:ubiquinone oxidoreductase subunit A12 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFA12 transcript variant 2	NM_001258338.2:c.169+5917… NM_001258338.2:c.169+5917_169+5919del	N/A	Intron Variant
NDUFA12 transcript variant 1	NM_018838.5:c.170-2565_17… NM_018838.5:c.170-2565_170-2563del	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	(A)₁₆=	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 12	NC_000012.12:g.94996820_94996835=	NC_000012.12:g.94996833_94996835del	NC_000012.12:g.94996834_94996835del	NC_000012.12:g.94996835del	NC_000012.12:g.94996835dup	NC_000012.12:g.94996834_94996835dup	NC_000012.12:g.94996833_94996835dup	NC_000012.12:g.94996832_94996835dup
GRCh37.p13 chr 12	NC_000012.11:g.95390596_95390611=	NC_000012.11:g.95390609_95390611del	NC_000012.11:g.95390610_95390611del	NC_000012.11:g.95390611del	NC_000012.11:g.95390611dup	NC_000012.11:g.95390610_95390611dup	NC_000012.11:g.95390609_95390611dup	NC_000012.11:g.95390608_95390611dup
NDUFA12 RefSeqGene	NG_032672.1:g.11879_11894=	NG_032672.1:g.11892_11894del	NG_032672.1:g.11893_11894del	NG_032672.1:g.11894del	NG_032672.1:g.11894dup	NG_032672.1:g.11893_11894dup	NG_032672.1:g.11892_11894dup	NG_032672.1:g.11891_11894dup
NDUFA12 transcript variant 2	NM_001258338.1:c.169+5919=	NM_001258338.1:c.169+5917_169+5919del	NM_001258338.1:c.169+5918_169+5919del	NM_001258338.1:c.169+5919del	NM_001258338.1:c.169+5919dup	NM_001258338.1:c.169+5918_169+5919dup	NM_001258338.1:c.169+5917_169+5919dup	NM_001258338.1:c.169+5916_169+5919dup
NDUFA12 transcript variant 2	NM_001258338.2:c.169+5919=	NM_001258338.2:c.169+5917_169+5919del	NM_001258338.2:c.169+5918_169+5919del	NM_001258338.2:c.169+5919del	NM_001258338.2:c.169+5919dup	NM_001258338.2:c.169+5918_169+5919dup	NM_001258338.2:c.169+5917_169+5919dup	NM_001258338.2:c.169+5916_169+5919dup
NDUFA12 transcript variant 1	NM_018838.4:c.170-2563=	NM_018838.4:c.170-2565_170-2563del	NM_018838.4:c.170-2564_170-2563del	NM_018838.4:c.170-2563del	NM_018838.4:c.170-2563dup	NM_018838.4:c.170-2564_170-2563dup	NM_018838.4:c.170-2565_170-2563dup	NM_018838.4:c.170-2566_170-2563dup
NDUFA12 transcript variant 1	NM_018838.5:c.170-2563=	NM_018838.5:c.170-2565_170-2563del	NM_018838.5:c.170-2564_170-2563del	NM_018838.5:c.170-2563del	NM_018838.5:c.170-2563dup	NM_018838.5:c.170-2564_170-2563dup	NM_018838.5:c.170-2565_170-2563dup	NM_018838.5:c.170-2566_170-2563dup

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#.

72 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40271827	Mar 13, 2006 (137)
2	HGSV	ss82158872	Oct 12, 2018 (152)
3	HUMANGENOME_JCVI	ss97274703	Dec 05, 2013 (138)
4	BUSHMAN	ss193292161	Jul 04, 2010 (137)
5	GMI	ss289145866	May 04, 2012 (137)
6	GMI	ss289145867	May 04, 2012 (138)
7	SSMP	ss664151150	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1707580380	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1707580382	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1707580451	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1707580452	Apr 01, 2015 (144)
12	SWEGEN	ss3010169252	Nov 08, 2017 (151)
13	MCHAISSO	ss3065491940	Nov 08, 2017 (151)
14	URBANLAB	ss3649901096	Oct 12, 2018 (152)
15	EVA_DECODE	ss3694244909	Jul 13, 2019 (153)
16	EVA_DECODE	ss3694244910	Jul 13, 2019 (153)
17	EVA_DECODE	ss3694244911	Jul 13, 2019 (153)
18	EVA_DECODE	ss3694244912	Jul 13, 2019 (153)
19	EVA_DECODE	ss3694244913	Jul 13, 2019 (153)
20	ACPOP	ss3739284096	Jul 13, 2019 (153)
21	ACPOP	ss3739284097	Jul 13, 2019 (153)
22	ACPOP	ss3739284098	Jul 13, 2019 (153)
23	PACBIO	ss3787305791	Jul 13, 2019 (153)
24	PACBIO	ss3787305792	Jul 13, 2019 (153)
25	PACBIO	ss3792393815	Jul 13, 2019 (153)
26	PACBIO	ss3792393816	Jul 13, 2019 (153)
27	PACBIO	ss3792393817	Jul 13, 2019 (153)
28	PACBIO	ss3797276800	Jul 13, 2019 (153)
29	PACBIO	ss3797276801	Jul 13, 2019 (153)
30	PACBIO	ss3797276802	Jul 13, 2019 (153)
31	EVA	ss3833270891	Apr 27, 2020 (154)
32	EVA	ss3840208661	Apr 27, 2020 (154)
33	EVA	ss3845696661	Apr 27, 2020 (154)
34	KOGIC	ss3972503909	Apr 27, 2020 (154)
35	KOGIC	ss3972503910	Apr 27, 2020 (154)
36	KOGIC	ss3972503911	Apr 27, 2020 (154)
37	KOGIC	ss3972503912	Apr 27, 2020 (154)
38	KOGIC	ss3972503913	Apr 27, 2020 (154)
39	FSA-LAB	ss3984034317	Apr 26, 2021 (155)
40	FSA-LAB	ss3984034318	Apr 26, 2021 (155)
41	GNOMAD	ss4257103896	Apr 26, 2021 (155)
42	GNOMAD	ss4257103897	Apr 26, 2021 (155)
43	GNOMAD	ss4257103898	Apr 26, 2021 (155)
44	GNOMAD	ss4257103899	Apr 26, 2021 (155)
45	GNOMAD	ss4257103900	Apr 26, 2021 (155)
46	GNOMAD	ss4257103901	Apr 26, 2021 (155)
47	GNOMAD	ss4257103902	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5207666722	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5207666723	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5207666724	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5207666725	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5207666726	Apr 26, 2021 (155)
53	EVA	ss5237221431	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5291850211	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5291850212	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5291850213	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5291850214	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5486489898	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5486489899	Oct 16, 2022 (156)
60	HUGCELL_USP	ss5486489900	Oct 16, 2022 (156)
61	EVA	ss5624035257	Oct 16, 2022 (156)
62	EVA	ss5624035258	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5757843691	Oct 16, 2022 (156)
64	TOMMO_GENOMICS	ss5757843692	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5757843693	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5757843694	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5757843695	Oct 16, 2022 (156)
68	EVA	ss5838363899	Oct 16, 2022 (156)
69	EVA	ss5838363900	Oct 16, 2022 (156)
70	EVA	ss5905578960	Oct 16, 2022 (156)
71	EVA	ss5980754747	Oct 16, 2022 (156)
72	EVA	ss5981277572	Oct 16, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32754202 (NC_000012.11:95390595::AAA 208/3854) Row 32754203 (NC_000012.11:95390595::AA 1554/3854)	-	Oct 12, 2018 (152)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32754202 (NC_000012.11:95390595::AAA 208/3854) Row 32754203 (NC_000012.11:95390595::AA 1554/3854)	-	Oct 12, 2018 (152)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 416155072 (NC_000012.12:94996819::A 16388/119252) Row 416155073 (NC_000012.12:94996819::AA 44804/118844) Row 416155074 (NC_000012.12:94996819::AAA 173/119304)...	-	Apr 26, 2021 (155)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 28881910 (NC_000012.12:94996821::A 76/1832) Row 28881911 (NC_000012.12:94996820:A: 307/1832) Row 28881912 (NC_000012.12:94996821::AA 466/1832)...	-	Apr 27, 2020 (154)
83	Korean Genome Project Submission ignored due to conflicting rows: Row 28881910 (NC_000012.12:94996821::A 76/1832) Row 28881911 (NC_000012.12:94996820:A: 307/1832) Row 28881912 (NC_000012.12:94996821::AA 466/1832)...	-	Apr 27, 2020 (154)
84	Korean Genome Project Submission ignored due to conflicting rows: Row 28881910 (NC_000012.12:94996821::A 76/1832) Row 28881911 (NC_000012.12:94996820:A: 307/1832) Row 28881912 (NC_000012.12:94996821::AA 466/1832)...	-	Apr 27, 2020 (154)
85	Korean Genome Project Submission ignored due to conflicting rows: Row 28881910 (NC_000012.12:94996821::A 76/1832) Row 28881911 (NC_000012.12:94996820:A: 307/1832) Row 28881912 (NC_000012.12:94996821::AA 466/1832)...	-	Apr 27, 2020 (154)
86	Korean Genome Project Submission ignored due to conflicting rows: Row 28881910 (NC_000012.12:94996821::A 76/1832) Row 28881911 (NC_000012.12:94996820:A: 307/1832) Row 28881912 (NC_000012.12:94996821::AA 466/1832)...	-	Apr 27, 2020 (154)
87	Northern Sweden Submission ignored due to conflicting rows: Row 12568961 (NC_000012.11:95390595:A: 96/582) Row 12568962 (NC_000012.11:95390595::AA 188/582) Row 12568963 (NC_000012.11:95390595::A 29/582)	-	Jul 13, 2019 (153)
88	Northern Sweden Submission ignored due to conflicting rows: Row 12568961 (NC_000012.11:95390595:A: 96/582) Row 12568962 (NC_000012.11:95390595::AA 188/582) Row 12568963 (NC_000012.11:95390595::A 29/582)	-	Jul 13, 2019 (153)
89	Northern Sweden Submission ignored due to conflicting rows: Row 12568961 (NC_000012.11:95390595:A: 96/582) Row 12568962 (NC_000012.11:95390595::AA 188/582) Row 12568963 (NC_000012.11:95390595::A 29/582)	-	Jul 13, 2019 (153)
90	8.3KJPN Submission ignored due to conflicting rows: Row 65636029 (NC_000012.11:95390595:A: 3866/16752) Row 65636030 (NC_000012.11:95390595::AA 4025/16752) Row 65636031 (NC_000012.11:95390595::A 21/16752)...	-	Apr 26, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 65636029 (NC_000012.11:95390595:A: 3866/16752) Row 65636030 (NC_000012.11:95390595::AA 4025/16752) Row 65636031 (NC_000012.11:95390595::A 21/16752)...	-	Apr 26, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 65636029 (NC_000012.11:95390595:A: 3866/16752) Row 65636030 (NC_000012.11:95390595::AA 4025/16752) Row 65636031 (NC_000012.11:95390595::A 21/16752)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 65636029 (NC_000012.11:95390595:A: 3866/16752) Row 65636030 (NC_000012.11:95390595::AA 4025/16752) Row 65636031 (NC_000012.11:95390595::A 21/16752)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 65636029 (NC_000012.11:95390595:A: 3866/16752) Row 65636030 (NC_000012.11:95390595::AA 4025/16752) Row 65636031 (NC_000012.11:95390595::A 21/16752)...	-	Apr 26, 2021 (155)
95	14KJPN Submission ignored due to conflicting rows: Row 91680795 (NC_000012.12:94996819:A: 6412/28246) Row 91680796 (NC_000012.12:94996819::AA 6594/28246) Row 91680797 (NC_000012.12:94996819::A 32/28246)...	-	Oct 16, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 91680795 (NC_000012.12:94996819:A: 6412/28246) Row 91680796 (NC_000012.12:94996819::AA 6594/28246) Row 91680797 (NC_000012.12:94996819::A 32/28246)...	-	Oct 16, 2022 (156)
97	14KJPN Submission ignored due to conflicting rows: Row 91680795 (NC_000012.12:94996819:A: 6412/28246) Row 91680796 (NC_000012.12:94996819::AA 6594/28246) Row 91680797 (NC_000012.12:94996819::A 32/28246)...	-	Oct 16, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 91680795 (NC_000012.12:94996819:A: 6412/28246) Row 91680796 (NC_000012.12:94996819::AA 6594/28246) Row 91680797 (NC_000012.12:94996819::A 32/28246)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 91680795 (NC_000012.12:94996819:A: 6412/28246) Row 91680796 (NC_000012.12:94996819::AA 6594/28246) Row 91680797 (NC_000012.12:94996819::A 32/28246)...	-	Oct 16, 2022 (156)
100	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32754202 (NC_000012.11:95390595::AAA 152/3708) Row 32754203 (NC_000012.11:95390595::AA 1485/3708)	-	Oct 12, 2018 (152)
101	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32754202 (NC_000012.11:95390595::AAA 152/3708) Row 32754203 (NC_000012.11:95390595::AA 1485/3708)	-	Oct 12, 2018 (152)
102	ALFA	NC_000012.12 - 94996820	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)
rs35408493	May 15, 2013 (138)
rs58491190	May 11, 2012 (137)
rs71995004	May 11, 2012 (137)
rs33944460	May 23, 2006 (127)
rs34142503	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4257103902	NC_000012.12:94996819:AAA:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3787305792, ss3984034318, ss5207666726	NC_000012.11:95390595:AA:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3694244913, ss3972503913, ss4257103901, ss5757843695	NC_000012.12:94996819:AA:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
4746543748	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss289145866	NC_000012.10:93914726:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3010169252, ss3739284096, ss3792393815, ss3797276800, ss5207666722, ss5624035258, ss5838363899, ss5981277572	NC_000012.11:95390595:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3065491940, ss3649901096, ss4257103900, ss5291850213, ss5486489899, ss5757843691	NC_000012.12:94996819:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4746543748	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3694244912, ss3972503910	NC_000012.12:94996820:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss40271827	NT_029419.12:57533901:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss97274703	NT_029419.12:57533916:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193292161	NT_029419.13:57761567:A:	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3739284098, ss3787305791, ss3792393816, ss3797276801, ss3840208661, ss5207666724	NC_000012.11:95390595::A	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3845696661, ss4257103896, ss5291850212, ss5486489900, ss5757843693	NC_000012.12:94996819::A	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4746543748	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3694244911, ss3972503909	NC_000012.12:94996821::A	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss289145867	NC_000012.10:93914742::AA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss664151150, ss1707580382, ss1707580452, ss3739284097, ss3792393817, ss3797276802, ss3833270891, ss3984034317, ss5207666723, ss5624035257, ss5838363900, ss5980754747	NC_000012.11:95390595::AA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4257103897, ss5237221431, ss5291850211, ss5486489898, ss5757843692, ss5905578960	NC_000012.12:94996819::AA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4746543748	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3694244910, ss3972503911	NC_000012.12:94996821::AA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss82158872	NT_029419.12:57533917::AA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1707580380, ss1707580451, ss5207666725	NC_000012.11:95390595::AAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4257103898, ss5291850214, ss5757843694	NC_000012.12:94996819::AAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4746543748	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3694244909, ss3972503912	NC_000012.12:94996821::AAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4257103899	NC_000012.12:94996819::AAAA	NC_000012.12:94996819:AAAAAAAAAAAA… NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(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 rs10654978

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

rs10654978