Name: rs11284494
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.

rs11284494

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:47822110-47822128 (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)₇ / del(A)₅ / del(A)₄ / delA…
del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.06287 (661/10513, ALFA)
delA=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OPN5 : 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	10513	AAAAAAAAAAAAAAAAAAA=0.93674	AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00019, AAAAAAAAAAAAAAAAAA=0.06287, AAAAAAAAAAAAAAAAA=0.00019, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000	0.886992	0.012855	0.100153	32
European	Sub	8482	AAAAAAAAAAAAAAAAAAA=0.9217	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAAAA=0.0778, AAAAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	0.8599	0.015964	0.124136	32
African	Sub	1096	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	44	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1052	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	82	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	66	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	90	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	442	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	259	AAAAAAAAAAAAAAAAAAA=0.996	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	0.992248	0.0	0.007752	0

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	10513	(A)₁₉=0.93674	del(A)₇=0.00000, del(A)₄=0.00019, delAAA=0.00000, delAA=0.00019, delA=0.06287, dupA=0.00000, dupAA=0.00000
Allele Frequency Aggregator	European	Sub	8482	(A)₁₉=0.9217	del(A)₇=0.0000, del(A)₄=0.0002, delAAA=0.0000, delAA=0.0002, delA=0.0778, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	1096	(A)₁₉=1.0000	del(A)₇=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	442	(A)₁₉=1.000	del(A)₇=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	259	(A)₁₉=0.996	del(A)₇=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.004, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	90	(A)₁₉=1.00	del(A)₇=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	82	(A)₁₉=1.00	del(A)₇=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(A)₁₉=1.00	del(A)₇=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₉=0.62	delA=0.38

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 6	NC_000006.12:g.47822122_47822128del
GRCh38.p14 chr 6	NC_000006.12:g.47822124_47822128del
GRCh38.p14 chr 6	NC_000006.12:g.47822125_47822128del
GRCh38.p14 chr 6	NC_000006.12:g.47822126_47822128del
GRCh38.p14 chr 6	NC_000006.12:g.47822127_47822128del
GRCh38.p14 chr 6	NC_000006.12:g.47822128del
GRCh38.p14 chr 6	NC_000006.12:g.47822128dup
GRCh38.p14 chr 6	NC_000006.12:g.47822127_47822128dup
GRCh38.p14 chr 6	NC_000006.12:g.47822126_47822128dup
GRCh38.p14 chr 6	NC_000006.12:g.47822125_47822128dup
GRCh37.p13 chr 6	NC_000006.11:g.47789858_47789864del
GRCh37.p13 chr 6	NC_000006.11:g.47789860_47789864del
GRCh37.p13 chr 6	NC_000006.11:g.47789861_47789864del
GRCh37.p13 chr 6	NC_000006.11:g.47789862_47789864del
GRCh37.p13 chr 6	NC_000006.11:g.47789863_47789864del
GRCh37.p13 chr 6	NC_000006.11:g.47789864del
GRCh37.p13 chr 6	NC_000006.11:g.47789864dup
GRCh37.p13 chr 6	NC_000006.11:g.47789863_47789864dup
GRCh37.p13 chr 6	NC_000006.11:g.47789862_47789864dup
GRCh37.p13 chr 6	NC_000006.11:g.47789861_47789864dup

Gene: OPN5, opsin 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OPN5 transcript variant 1	NM_181744.4:c.1057-1861_1… NM_181744.4:c.1057-1861_1057-1855del	N/A	Intron Variant
OPN5 transcript variant 2	NR_033806.2:n.	N/A	Intron Variant
OPN5 transcript variant X1	XM_017010410.2:c.861-1861… XM_017010410.2:c.861-1861_861-1855del	N/A	Intron Variant
OPN5 transcript variant X2	XM_017010411.2:c.889-1861… XM_017010411.2:c.889-1861_889-1855del	N/A	Intron Variant
OPN5 transcript variant X3	XM_017010412.2:c.819-1861… XM_017010412.2:c.819-1861_819-1855del	N/A	Intron Variant
OPN5 transcript variant X4	XM_017010413.2:c.819-1861… XM_017010413.2:c.819-1861_819-1855del	N/A	Intron Variant
OPN5 transcript variant X5	XM_017010414.2:c.714-1861… XM_017010414.2:c.714-1861_714-1855del	N/A	Intron Variant
OPN5 transcript variant X7	XM_017010416.2:c.1188-186… XM_017010416.2:c.1188-1861_1188-1855del	N/A	Intron Variant
OPN5 transcript variant X6	XM_047418325.1:c.693-1861… XM_047418325.1:c.693-1861_693-1855del	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)₁₉=	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 6	NC_000006.12:g.47822110_47822128=	NC_000006.12:g.47822122_47822128del	NC_000006.12:g.47822124_47822128del	NC_000006.12:g.47822125_47822128del	NC_000006.12:g.47822126_47822128del	NC_000006.12:g.47822127_47822128del	NC_000006.12:g.47822128del	NC_000006.12:g.47822128dup	NC_000006.12:g.47822127_47822128dup	NC_000006.12:g.47822126_47822128dup	NC_000006.12:g.47822125_47822128dup
GRCh37.p13 chr 6	NC_000006.11:g.47789846_47789864=	NC_000006.11:g.47789858_47789864del	NC_000006.11:g.47789860_47789864del	NC_000006.11:g.47789861_47789864del	NC_000006.11:g.47789862_47789864del	NC_000006.11:g.47789863_47789864del	NC_000006.11:g.47789864del	NC_000006.11:g.47789864dup	NC_000006.11:g.47789863_47789864dup	NC_000006.11:g.47789862_47789864dup	NC_000006.11:g.47789861_47789864dup
OPN5 transcript variant 1	NM_181744.3:c.1057-1873=	NM_181744.3:c.1057-1861_1057-1855del	NM_181744.3:c.1057-1859_1057-1855del	NM_181744.3:c.1057-1858_1057-1855del	NM_181744.3:c.1057-1857_1057-1855del	NM_181744.3:c.1057-1856_1057-1855del	NM_181744.3:c.1057-1855del	NM_181744.3:c.1057-1855dup	NM_181744.3:c.1057-1856_1057-1855dup	NM_181744.3:c.1057-1857_1057-1855dup	NM_181744.3:c.1057-1858_1057-1855dup
OPN5 transcript variant 1	NM_181744.4:c.1057-1873=	NM_181744.4:c.1057-1861_1057-1855del	NM_181744.4:c.1057-1859_1057-1855del	NM_181744.4:c.1057-1858_1057-1855del	NM_181744.4:c.1057-1857_1057-1855del	NM_181744.4:c.1057-1856_1057-1855del	NM_181744.4:c.1057-1855del	NM_181744.4:c.1057-1855dup	NM_181744.4:c.1057-1856_1057-1855dup	NM_181744.4:c.1057-1857_1057-1855dup	NM_181744.4:c.1057-1858_1057-1855dup
OPN5 transcript variant X1	XM_017010410.2:c.861-1873=	XM_017010410.2:c.861-1861_861-1855del	XM_017010410.2:c.861-1859_861-1855del	XM_017010410.2:c.861-1858_861-1855del	XM_017010410.2:c.861-1857_861-1855del	XM_017010410.2:c.861-1856_861-1855del	XM_017010410.2:c.861-1855del	XM_017010410.2:c.861-1855dup	XM_017010410.2:c.861-1856_861-1855dup	XM_017010410.2:c.861-1857_861-1855dup	XM_017010410.2:c.861-1858_861-1855dup
OPN5 transcript variant X2	XM_017010411.2:c.889-1873=	XM_017010411.2:c.889-1861_889-1855del	XM_017010411.2:c.889-1859_889-1855del	XM_017010411.2:c.889-1858_889-1855del	XM_017010411.2:c.889-1857_889-1855del	XM_017010411.2:c.889-1856_889-1855del	XM_017010411.2:c.889-1855del	XM_017010411.2:c.889-1855dup	XM_017010411.2:c.889-1856_889-1855dup	XM_017010411.2:c.889-1857_889-1855dup	XM_017010411.2:c.889-1858_889-1855dup
OPN5 transcript variant X3	XM_017010412.2:c.819-1873=	XM_017010412.2:c.819-1861_819-1855del	XM_017010412.2:c.819-1859_819-1855del	XM_017010412.2:c.819-1858_819-1855del	XM_017010412.2:c.819-1857_819-1855del	XM_017010412.2:c.819-1856_819-1855del	XM_017010412.2:c.819-1855del	XM_017010412.2:c.819-1855dup	XM_017010412.2:c.819-1856_819-1855dup	XM_017010412.2:c.819-1857_819-1855dup	XM_017010412.2:c.819-1858_819-1855dup
OPN5 transcript variant X4	XM_017010413.2:c.819-1873=	XM_017010413.2:c.819-1861_819-1855del	XM_017010413.2:c.819-1859_819-1855del	XM_017010413.2:c.819-1858_819-1855del	XM_017010413.2:c.819-1857_819-1855del	XM_017010413.2:c.819-1856_819-1855del	XM_017010413.2:c.819-1855del	XM_017010413.2:c.819-1855dup	XM_017010413.2:c.819-1856_819-1855dup	XM_017010413.2:c.819-1857_819-1855dup	XM_017010413.2:c.819-1858_819-1855dup
OPN5 transcript variant X5	XM_017010414.2:c.714-1873=	XM_017010414.2:c.714-1861_714-1855del	XM_017010414.2:c.714-1859_714-1855del	XM_017010414.2:c.714-1858_714-1855del	XM_017010414.2:c.714-1857_714-1855del	XM_017010414.2:c.714-1856_714-1855del	XM_017010414.2:c.714-1855del	XM_017010414.2:c.714-1855dup	XM_017010414.2:c.714-1856_714-1855dup	XM_017010414.2:c.714-1857_714-1855dup	XM_017010414.2:c.714-1858_714-1855dup
OPN5 transcript variant X7	XM_017010416.2:c.1188-1873=	XM_017010416.2:c.1188-1861_1188-1855del	XM_017010416.2:c.1188-1859_1188-1855del	XM_017010416.2:c.1188-1858_1188-1855del	XM_017010416.2:c.1188-1857_1188-1855del	XM_017010416.2:c.1188-1856_1188-1855del	XM_017010416.2:c.1188-1855del	XM_017010416.2:c.1188-1855dup	XM_017010416.2:c.1188-1856_1188-1855dup	XM_017010416.2:c.1188-1857_1188-1855dup	XM_017010416.2:c.1188-1858_1188-1855dup
OPN5 transcript variant X6	XM_047418325.1:c.693-1873=	XM_047418325.1:c.693-1861_693-1855del	XM_047418325.1:c.693-1859_693-1855del	XM_047418325.1:c.693-1858_693-1855del	XM_047418325.1:c.693-1857_693-1855del	XM_047418325.1:c.693-1856_693-1855del	XM_047418325.1:c.693-1855del	XM_047418325.1:c.693-1855dup	XM_047418325.1:c.693-1856_693-1855dup	XM_047418325.1:c.693-1857_693-1855dup	XM_047418325.1:c.693-1858_693-1855dup

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#.

34 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81906007	Dec 15, 2007 (130)
2	EVA_GENOME_DK	ss1576752889	Apr 01, 2015 (144)
3	MCHAISSO	ss3065082925	Nov 08, 2017 (151)
4	MCHAISSO	ss3066079995	Nov 08, 2017 (151)
5	EVA	ss3829911363	Apr 26, 2020 (154)
6	KOGIC	ss3958989862	Apr 26, 2020 (154)
7	KOGIC	ss3958989863	Apr 26, 2020 (154)
8	KOGIC	ss3958989864	Apr 26, 2020 (154)
9	GNOMAD	ss4141320299	Apr 26, 2021 (155)
10	GNOMAD	ss4141320300	Apr 26, 2021 (155)
11	GNOMAD	ss4141320301	Apr 26, 2021 (155)
12	GNOMAD	ss4141320302	Apr 26, 2021 (155)
13	GNOMAD	ss4141320303	Apr 26, 2021 (155)
14	GNOMAD	ss4141320304	Apr 26, 2021 (155)
15	GNOMAD	ss4141320305	Apr 26, 2021 (155)
16	GNOMAD	ss4141320306	Apr 26, 2021 (155)
17	GNOMAD	ss4141320307	Apr 26, 2021 (155)
18	GNOMAD	ss4141320308	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5177397720	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5177397721	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5177397722	Apr 26, 2021 (155)
22	1000G_HIGH_COVERAGE	ss5268362297	Oct 13, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5268362299	Oct 13, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5268362300	Oct 13, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5268362301	Oct 13, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5268362302	Oct 13, 2022 (156)
27	HUGCELL_USP	ss5466043713	Oct 13, 2022 (156)
28	HUGCELL_USP	ss5466043714	Oct 13, 2022 (156)
29	HUGCELL_USP	ss5466043715	Oct 13, 2022 (156)
30	HUGCELL_USP	ss5466043716	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5466043717	Oct 13, 2022 (156)
32	TOMMO_GENOMICS	ss5715413765	Oct 13, 2022 (156)
33	TOMMO_GENOMICS	ss5715413766	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5715413767	Oct 13, 2022 (156)
35	The Danish reference pan genome	NC_000006.11 - 47789846	Apr 26, 2020 (154)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224496791 (NC_000006.12:47822109::A 712/82238) Row 224496792 (NC_000006.12:47822109::AA 8/82390) Row 224496793 (NC_000006.12:47822109::AAA 1/82398)...	-	Apr 26, 2021 (155)
46	Korean Genome Project Submission ignored due to conflicting rows: Row 15367863 (NC_000006.12:47822110:A: 363/1820) Row 15367864 (NC_000006.12:47822111::A 141/1820) Row 15367865 (NC_000006.12:47822109:AA: 29/1820)	-	Apr 26, 2020 (154)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 15367863 (NC_000006.12:47822110:A: 363/1820) Row 15367864 (NC_000006.12:47822111::A 141/1820) Row 15367865 (NC_000006.12:47822109:AA: 29/1820)	-	Apr 26, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 15367863 (NC_000006.12:47822110:A: 363/1820) Row 15367864 (NC_000006.12:47822111::A 141/1820) Row 15367865 (NC_000006.12:47822109:AA: 29/1820)	-	Apr 26, 2020 (154)
49	8.3KJPN Submission ignored due to conflicting rows: Row 35367027 (NC_000006.11:47789845:A: 949/16760) Row 35367028 (NC_000006.11:47789845:AA: 12/16760) Row 35367029 (NC_000006.11:47789845::A 30/16760)	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 35367027 (NC_000006.11:47789845:A: 949/16760) Row 35367028 (NC_000006.11:47789845:AA: 12/16760) Row 35367029 (NC_000006.11:47789845::A 30/16760)	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 35367027 (NC_000006.11:47789845:A: 949/16760) Row 35367028 (NC_000006.11:47789845:AA: 12/16760) Row 35367029 (NC_000006.11:47789845::A 30/16760)	-	Apr 26, 2021 (155)
52	14KJPN Submission ignored due to conflicting rows: Row 49250869 (NC_000006.12:47822109:A: 1719/28258) Row 49250870 (NC_000006.12:47822109:AA: 25/28258) Row 49250871 (NC_000006.12:47822109::A 41/28258)	-	Oct 13, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 49250869 (NC_000006.12:47822109:A: 1719/28258) Row 49250870 (NC_000006.12:47822109:AA: 25/28258) Row 49250871 (NC_000006.12:47822109::A 41/28258)	-	Oct 13, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 49250869 (NC_000006.12:47822109:A: 1719/28258) Row 49250870 (NC_000006.12:47822109:AA: 25/28258) Row 49250871 (NC_000006.12:47822109::A 41/28258)	-	Oct 13, 2022 (156)
55	ALFA	NC_000006.12 - 47822110	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)
rs11361983	May 11, 2012 (137)
rs59901916	May 25, 2008 (130)
rs71992613	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4141320308	NC_000006.12:47822109:AAAAAAA:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4141320307	NC_000006.12:47822109:AAAAA:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4141320306, ss5268362301, ss5466043717	NC_000006.12:47822109:AAAA:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4141320305, ss5268362300, ss5466043716	NC_000006.12:47822109:AAA:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5177397721	NC_000006.11:47789845:AA:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3958989864, ss4141320304, ss5268362302, ss5466043715, ss5715413766	NC_000006.12:47822109:AA:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss81906007	NC_000006.9:47897822:A:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
1073722, ss1576752889, ss3829911363, ss5177397720	NC_000006.11:47789845:A:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3065082925, ss3066079995, ss4141320303, ss5268362297, ss5466043713, ss5715413765	NC_000006.12:47822109:A:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3958989862	NC_000006.12:47822110:A:	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5177397722	NC_000006.11:47789845::A	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4141320299, ss5268362299, ss5466043714, ss5715413767	NC_000006.12:47822109::A	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3958989863	NC_000006.12:47822111::A	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4141320300	NC_000006.12:47822109::AA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6563697001	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4141320301	NC_000006.12:47822109::AAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4141320302	NC_000006.12:47822109::AAAA	NC_000006.12:47822109:AAAAAAAAAAAA… NC_000006.12:47822109:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(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 rs11284494

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

rs11284494