Name: rs11285395
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.

rs11285395

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:60947766-60947783 (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(A)₅ / del(A)₄ / delAAA / delAA…
del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: delAAA=0.0000 (0/1704, ALFA)
delAA=0.0000 (0/1704, ALFA)
delA=0.0000 (0/1704, ALFA) (+ 3 more)
dupA=0.0000 (0/1704, ALFA)
dupAA=0.0000 (0/1704, ALFA)
dupAAA=0.0000 (0/1704, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NDUFAF2 : 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	1704	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	1218	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	328	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	316	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	30	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	50	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	16	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	60	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	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	1704	(A)₁₈=1.0000	delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	1218	(A)₁₈=1.0000	delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	328	(A)₁₈=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	60	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	50	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	30	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(A)₁₈=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	2	(A)₁₈=1.0	delAAA=0.0, 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 5	NC_000005.10:g.60947779_60947783del
GRCh38.p14 chr 5	NC_000005.10:g.60947780_60947783del
GRCh38.p14 chr 5	NC_000005.10:g.60947781_60947783del
GRCh38.p14 chr 5	NC_000005.10:g.60947782_60947783del
GRCh38.p14 chr 5	NC_000005.10:g.60947783del
GRCh38.p14 chr 5	NC_000005.10:g.60947783dup
GRCh38.p14 chr 5	NC_000005.10:g.60947782_60947783dup
GRCh38.p14 chr 5	NC_000005.10:g.60947781_60947783dup
GRCh38.p14 chr 5	NC_000005.10:g.60947779_60947783dup
GRCh37.p13 chr 5	NC_000005.9:g.60243606_60243610del
GRCh37.p13 chr 5	NC_000005.9:g.60243607_60243610del
GRCh37.p13 chr 5	NC_000005.9:g.60243608_60243610del
GRCh37.p13 chr 5	NC_000005.9:g.60243609_60243610del
GRCh37.p13 chr 5	NC_000005.9:g.60243610del
GRCh37.p13 chr 5	NC_000005.9:g.60243610dup
GRCh37.p13 chr 5	NC_000005.9:g.60243609_60243610dup
GRCh37.p13 chr 5	NC_000005.9:g.60243608_60243610dup
GRCh37.p13 chr 5	NC_000005.9:g.60243606_60243610dup
NDUFAF2 RefSeqGene	NG_008978.1:g.7651_7655del
NDUFAF2 RefSeqGene	NG_008978.1:g.7652_7655del
NDUFAF2 RefSeqGene	NG_008978.1:g.7653_7655del
NDUFAF2 RefSeqGene	NG_008978.1:g.7654_7655del
NDUFAF2 RefSeqGene	NG_008978.1:g.7655del
NDUFAF2 RefSeqGene	NG_008978.1:g.7655dup
NDUFAF2 RefSeqGene	NG_008978.1:g.7654_7655dup
NDUFAF2 RefSeqGene	NG_008978.1:g.7653_7655dup
NDUFAF2 RefSeqGene	NG_008978.1:g.7651_7655dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2309_2313del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2310_2313del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2311_2313del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2312_2313del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2313del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2313dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2312_2313dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2311_2313dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2309_2313dup

Gene: NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFAF2 transcript	NM_174889.5:c.127+2397_12… NM_174889.5:c.127+2397_127+2401del	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)₁₈=	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅
GRCh38.p14 chr 5	NC_000005.10:g.60947766_60947783=	NC_000005.10:g.60947779_60947783del	NC_000005.10:g.60947780_60947783del	NC_000005.10:g.60947781_60947783del	NC_000005.10:g.60947782_60947783del	NC_000005.10:g.60947783del	NC_000005.10:g.60947783dup	NC_000005.10:g.60947782_60947783dup	NC_000005.10:g.60947781_60947783dup	NC_000005.10:g.60947779_60947783dup
GRCh37.p13 chr 5	NC_000005.9:g.60243593_60243610=	NC_000005.9:g.60243606_60243610del	NC_000005.9:g.60243607_60243610del	NC_000005.9:g.60243608_60243610del	NC_000005.9:g.60243609_60243610del	NC_000005.9:g.60243610del	NC_000005.9:g.60243610dup	NC_000005.9:g.60243609_60243610dup	NC_000005.9:g.60243608_60243610dup	NC_000005.9:g.60243606_60243610dup
NDUFAF2 RefSeqGene	NG_008978.1:g.7638_7655=	NG_008978.1:g.7651_7655del	NG_008978.1:g.7652_7655del	NG_008978.1:g.7653_7655del	NG_008978.1:g.7654_7655del	NG_008978.1:g.7655del	NG_008978.1:g.7655dup	NG_008978.1:g.7654_7655dup	NG_008978.1:g.7653_7655dup	NG_008978.1:g.7651_7655dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.2296_2313=	NG_009289.1:g.2309_2313del	NG_009289.1:g.2310_2313del	NG_009289.1:g.2311_2313del	NG_009289.1:g.2312_2313del	NG_009289.1:g.2313del	NG_009289.1:g.2313dup	NG_009289.1:g.2312_2313dup	NG_009289.1:g.2311_2313dup	NG_009289.1:g.2309_2313dup
NDUFAF2 transcript	NM_174889.4:c.127+2384=	NM_174889.4:c.127+2397_127+2401del	NM_174889.4:c.127+2398_127+2401del	NM_174889.4:c.127+2399_127+2401del	NM_174889.4:c.127+2400_127+2401del	NM_174889.4:c.127+2401del	NM_174889.4:c.127+2401dup	NM_174889.4:c.127+2400_127+2401dup	NM_174889.4:c.127+2399_127+2401dup	NM_174889.4:c.127+2397_127+2401dup
NDUFAF2 transcript	NM_174889.5:c.127+2384=	NM_174889.5:c.127+2397_127+2401del	NM_174889.5:c.127+2398_127+2401del	NM_174889.5:c.127+2399_127+2401del	NM_174889.5:c.127+2400_127+2401del	NM_174889.5:c.127+2401del	NM_174889.5:c.127+2401dup	NM_174889.5:c.127+2400_127+2401dup	NM_174889.5:c.127+2399_127+2401dup	NM_174889.5:c.127+2397_127+2401dup

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	ss42486123	Dec 03, 2013 (144)
2	HGSV	ss80255558	Dec 15, 2007 (130)
3	HGSV	ss80260923	Dec 15, 2007 (130)
4	HUMANGENOME_JCVI	ss98676962	Feb 06, 2009 (137)
5	GMI	ss288633006	May 04, 2012 (137)
6	PJP	ss295226906	May 09, 2011 (137)
7	PJP	ss295226907	May 09, 2011 (134)
8	SSMP	ss663613033	Apr 01, 2015 (144)
9	BILGI_BIOE	ss666311783	Apr 25, 2013 (138)
10	EVA_UK10K_ALSPAC	ss1704688784	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1704688787	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710210690	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710210697	Apr 01, 2015 (144)
14	SWEGEN	ss2997001493	Nov 08, 2017 (151)
15	MCHAISSO	ss3064158589	Nov 08, 2017 (151)
16	MCHAISSO	ss3065031528	Nov 08, 2017 (151)
17	MCHAISSO	ss3065031529	Nov 08, 2017 (151)
18	MCHAISSO	ss3066019506	Nov 08, 2017 (151)
19	EVA_DECODE	ss3714766984	Jul 13, 2019 (153)
20	EVA_DECODE	ss3714766985	Jul 13, 2019 (153)
21	EVA_DECODE	ss3714766986	Jul 13, 2019 (153)
22	EVA_DECODE	ss3714766987	Jul 13, 2019 (153)
23	ACPOP	ss3732392579	Jul 13, 2019 (153)
24	ACPOP	ss3732392580	Jul 13, 2019 (153)
25	PACBIO	ss3785121706	Jul 13, 2019 (153)
26	PACBIO	ss3790526512	Jul 13, 2019 (153)
27	PACBIO	ss3795403157	Jul 13, 2019 (153)
28	EVA	ss3829265980	Apr 26, 2020 (154)
29	EVA	ss3838104959	Apr 26, 2020 (154)
30	GNOMAD	ss4105196165	Apr 26, 2021 (155)
31	GNOMAD	ss4105196166	Apr 26, 2021 (155)
32	GNOMAD	ss4105196167	Apr 26, 2021 (155)
33	GNOMAD	ss4105196168	Apr 26, 2021 (155)
34	GNOMAD	ss4105196169	Apr 26, 2021 (155)
35	GNOMAD	ss4105196170	Apr 26, 2021 (155)
36	GNOMAD	ss4105196171	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5171928696	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5171928697	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5171928698	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5264120906	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5264120908	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5264120909	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5264120910	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5462286908	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5462286909	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5462286910	Oct 13, 2022 (156)
47	TOMMO_GENOMICS	ss5708378320	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5708378321	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5708378322	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5708378324	Oct 13, 2022 (156)
51	EVA	ss5834984565	Oct 13, 2022 (156)
52	EVA	ss5834984566	Oct 13, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14938350 (NC_000005.9:60243593:A: 2835/3854) Row 14938351 (NC_000005.9:60243592:AAA: 369/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14938350 (NC_000005.9:60243593:A: 2835/3854) Row 14938351 (NC_000005.9:60243592:AAA: 369/3854)	-	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189881195 (NC_000005.10:60947765::A 231/106034) Row 189881196 (NC_000005.10:60947765::AA 3/106104) Row 189881197 (NC_000005.10:60947765::AAAAA 1/106112)...	-	Apr 26, 2021 (155)
63	Northern Sweden Submission ignored due to conflicting rows: Row 5677444 (NC_000005.9:60243592:AA: 115/470) Row 5677445 (NC_000005.9:60243592:A: 65/470)	-	Jul 13, 2019 (153)
64	Northern Sweden Submission ignored due to conflicting rows: Row 5677444 (NC_000005.9:60243592:AA: 115/470) Row 5677445 (NC_000005.9:60243592:A: 65/470)	-	Jul 13, 2019 (153)
65	8.3KJPN Submission ignored due to conflicting rows: Row 29898003 (NC_000005.9:60243592:AA: 12292/16522) Row 29898004 (NC_000005.9:60243592:A: 2491/16522) Row 29898005 (NC_000005.9:60243592:AAA: 94/16522)	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 29898003 (NC_000005.9:60243592:AA: 12292/16522) Row 29898004 (NC_000005.9:60243592:A: 2491/16522) Row 29898005 (NC_000005.9:60243592:AAA: 94/16522)	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 29898003 (NC_000005.9:60243592:AA: 12292/16522) Row 29898004 (NC_000005.9:60243592:A: 2491/16522) Row 29898005 (NC_000005.9:60243592:AAA: 94/16522)	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 42215424 (NC_000005.10:60947765:AA: 21208/28224) Row 42215425 (NC_000005.10:60947765:A: 4522/28224) Row 42215426 (NC_000005.10:60947765:AAA: 158/28224)...	-	Oct 13, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 42215424 (NC_000005.10:60947765:AA: 21208/28224) Row 42215425 (NC_000005.10:60947765:A: 4522/28224) Row 42215426 (NC_000005.10:60947765:AAA: 158/28224)...	-	Oct 13, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 42215424 (NC_000005.10:60947765:AA: 21208/28224) Row 42215425 (NC_000005.10:60947765:A: 4522/28224) Row 42215426 (NC_000005.10:60947765:AAA: 158/28224)...	-	Oct 13, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 42215424 (NC_000005.10:60947765:AA: 21208/28224) Row 42215425 (NC_000005.10:60947765:A: 4522/28224) Row 42215426 (NC_000005.10:60947765:AAA: 158/28224)...	-	Oct 13, 2022 (156)
72	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14938350 (NC_000005.9:60243593:A: 2717/3708) Row 14938351 (NC_000005.9:60243592:AAA: 372/3708)	-	Oct 12, 2018 (152)
73	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14938350 (NC_000005.9:60243593:A: 2717/3708) Row 14938351 (NC_000005.9:60243592:AAA: 372/3708)	-	Oct 12, 2018 (152)
74	ALFA	NC_000005.10 - 60947766	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)
rs59167143	May 25, 2008 (130)
rs67599956	May 11, 2012 (137)
rs67599957	Feb 27, 2009 (130)
rs67599958	Feb 27, 2009 (130)
rs397882701	Jul 01, 2015 (144)
rs200023866	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4105196171	NC_000005.10:60947765:AAAAA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4105196170	NC_000005.10:60947765:AAAA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1704688784, ss1704688787, ss5171928698, ss5834984566	NC_000005.9:60243592:AAA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3714766987, ss4105196169, ss5264120910, ss5708378322	NC_000005.10:60947765:AAA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12473235887	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss288633006	NC_000005.8:60279349:AA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss663613033, ss666311783, ss2997001493, ss3732392579, ss3785121706, ss3790526512, ss3795403157, ss3829265980, ss3838104959, ss5171928696, ss5834984565	NC_000005.9:60243592:AA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1710210690, ss1710210697	NC_000005.9:60243593:AA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3064158589, ss3065031528, ss3065031529, ss3066019506, ss4105196168, ss5264120906, ss5462286908, ss5708378320	NC_000005.10:60947765:AA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
12473235887	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3714766986	NC_000005.10:60947766:AA:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss295226906	NC_000005.8:60279349:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss80255558, ss80260923, ss295226907	NC_000005.8:60279366:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3732392580, ss5171928697	NC_000005.9:60243592:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000005.9:60243593:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5264120908, ss5462286910, ss5708378321	NC_000005.10:60947765:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
12473235887	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3714766985	NC_000005.10:60947767:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss98676962	NT_006713.15:10837951:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss42486123	NT_006713.15:10837968:A:	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4105196165, ss5264120909, ss5462286909, ss5708378324	NC_000005.10:60947765::A	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
12473235887	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3714766984	NC_000005.10:60947768::A	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4105196166	NC_000005.10:60947765::AA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
12473235887	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
12473235887	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4105196167	NC_000005.10:60947765::AAAAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3465575604	NC_000005.10:60947765::AAA	NC_000005.10:60947765:AAAAAAAAAAAA… NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

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

No publications for rs11285395

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

rs11285395