Name: rs112984403
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.

rs112984403

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:47795762-47795779 (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(TC)₃ / delTCTC / delTC / dupTC…
del(TC)₃ / delTCTC / delTC / dupTC / dupTCTC / dup(TC)₃ / dup(TC)₄ / dup(TC)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupTC=0.04284 (534/12464, ALFA)
dupTC=0.0644 (118/1832, Korea1K)

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	12464	TCTCTCTCTCTCTCTCTC=0.92025	TCTCTCTCTCTC=0.00000, TCTCTCTCTCTCTC=0.03651, TCTCTCTCTCTCTCTC=0.00032, TCTCTCTCTCTCTCTCTCTC=0.04284, TCTCTCTCTCTCTCTCTCTCTCTC=0.00008, TCTCTCTCTCTCTCTCTCTCTC=0.00000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.00000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.00000	0.922612	0.00501	0.072379	22
European	Sub	9600	TCTCTCTCTCTCTCTCTC=0.8968	TCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTC=0.0473, TCTCTCTCTCTCTCTC=0.0004, TCTCTCTCTCTCTCTCTCTC=0.0554, TCTCTCTCTCTCTCTCTCTCTCTC=0.0001, TCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.0000	0.897659	0.006654	0.095686	12
African	Sub	1752	TCTCTCTCTCTCTCTCTC=1.0000	TCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	64	TCTCTCTCTCTCTCTCTC=1.00	TCTCTCTCTCTC=0.00, TCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.00	1.0	0.0	0.0	N/A
African American	Sub	1688	TCTCTCTCTCTCTCTCTC=1.0000	TCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	100	TCTCTCTCTCTCTCTCTC=1.00	TCTCTCTCTCTC=0.00, TCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TCTCTCTCTCTCTCTCTC=1.00	TCTCTCTCTCTC=0.00, TCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TCTCTCTCTCTCTCTCTC=1.00	TCTCTCTCTCTC=0.00, TCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	114	TCTCTCTCTCTCTCTCTC=1.000	TCTCTCTCTCTC=0.000, TCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	500	TCTCTCTCTCTCTCTCTC=1.000	TCTCTCTCTCTC=0.000, TCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	76	TCTCTCTCTCTCTCTCTC=1.00	TCTCTCTCTCTC=0.00, TCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.00	1.0	0.0	0.0	N/A
Other	Sub	322	TCTCTCTCTCTCTCTCTC=0.991	TCTCTCTCTCTC=0.000, TCTCTCTCTCTCTC=0.003, TCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTC=0.006, TCTCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTC=0.000, TCTCTCTCTCTCTCTCTCTCTCTCTCTC=0.000	0.9875	0.0	0.0125	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	12464	(TC)₉=0.92025	del(TC)₃=0.00000, delTCTC=0.03651, delTC=0.00032, dupTC=0.04284, dupTCTC=0.00000, dup(TC)₃=0.00008, dup(TC)₄=0.00000, dup(TC)₅=0.00000
Allele Frequency Aggregator	European	Sub	9600	(TC)₉=0.8968	del(TC)₃=0.0000, delTCTC=0.0473, delTC=0.0004, dupTC=0.0554, dupTCTC=0.0000, dup(TC)₃=0.0001, dup(TC)₄=0.0000, dup(TC)₅=0.0000
Allele Frequency Aggregator	African	Sub	1752	(TC)₉=1.0000	del(TC)₃=0.0000, delTCTC=0.0000, delTC=0.0000, dupTC=0.0000, dupTCTC=0.0000, dup(TC)₃=0.0000, dup(TC)₄=0.0000, dup(TC)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	500	(TC)₉=1.000	del(TC)₃=0.000, delTCTC=0.000, delTC=0.000, dupTC=0.000, dupTCTC=0.000, dup(TC)₃=0.000, dup(TC)₄=0.000, dup(TC)₅=0.000
Allele Frequency Aggregator	Other	Sub	322	(TC)₉=0.991	del(TC)₃=0.000, delTCTC=0.003, delTC=0.000, dupTC=0.006, dupTCTC=0.000, dup(TC)₃=0.000, dup(TC)₄=0.000, dup(TC)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	114	(TC)₉=1.000	del(TC)₃=0.000, delTCTC=0.000, delTC=0.000, dupTC=0.000, dupTCTC=0.000, dup(TC)₃=0.000, dup(TC)₄=0.000, dup(TC)₅=0.000
Allele Frequency Aggregator	Asian	Sub	100	(TC)₉=1.00	del(TC)₃=0.00, delTCTC=0.00, delTC=0.00, dupTC=0.00, dupTCTC=0.00, dup(TC)₃=0.00, dup(TC)₄=0.00, dup(TC)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	76	(TC)₉=1.00	del(TC)₃=0.00, delTCTC=0.00, delTC=0.00, dupTC=0.00, dupTCTC=0.00, dup(TC)₃=0.00, dup(TC)₄=0.00, dup(TC)₅=0.00
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	dupTC=0.0644

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.47795762TC[6]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[7]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[8]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[10]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[11]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[12]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[13]
GRCh38.p14 chr 6	NC_000006.12:g.47795762TC[14]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[6]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[7]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[8]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[10]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[11]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[12]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[13]
GRCh37.p13 chr 6	NC_000006.11:g.47763498TC[14]

Gene: OPN5, opsin 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OPN5 transcript variant 1	NM_181744.4:c.756+199TC[6]	N/A	Intron Variant
OPN5 transcript variant 2	NR_033806.2:n.	N/A	Intron Variant
OPN5 transcript variant X1	XM_017010410.2:c.429+199T… XM_017010410.2:c.429+199TC[6]	N/A	Intron Variant
OPN5 transcript variant X2	XM_017010411.2:c.588+199T… XM_017010411.2:c.588+199TC[6]	N/A	Intron Variant
OPN5 transcript variant X3	XM_017010412.2:c.387+199T… XM_017010412.2:c.387+199TC[6]	N/A	Intron Variant
OPN5 transcript variant X4	XM_017010413.2:c.387+199T… XM_017010413.2:c.387+199TC[6]	N/A	Intron Variant
OPN5 transcript variant X5	XM_017010414.2:c.282+199T… XM_017010414.2:c.282+199TC[6]	N/A	Intron Variant
OPN5 transcript variant X7	XM_017010416.2:c.756+199T… XM_017010416.2:c.756+199TC[6]	N/A	Intron Variant
OPN5 transcript variant X6	XM_047418325.1:c.261+199T… XM_047418325.1:c.261+199TC[6]	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	(TC)₉=	del(TC)₃	delTCTC	delTC	dupTC	dupTCTC	dup(TC)₃	dup(TC)₄	dup(TC)₅
GRCh38.p14 chr 6	NC_000006.12:g.47795762_47795779=	NC_000006.12:g.47795762TC[6]	NC_000006.12:g.47795762TC[7]	NC_000006.12:g.47795762TC[8]	NC_000006.12:g.47795762TC[10]	NC_000006.12:g.47795762TC[11]	NC_000006.12:g.47795762TC[12]	NC_000006.12:g.47795762TC[13]	NC_000006.12:g.47795762TC[14]
GRCh37.p13 chr 6	NC_000006.11:g.47763498_47763515=	NC_000006.11:g.47763498TC[6]	NC_000006.11:g.47763498TC[7]	NC_000006.11:g.47763498TC[8]	NC_000006.11:g.47763498TC[10]	NC_000006.11:g.47763498TC[11]	NC_000006.11:g.47763498TC[12]	NC_000006.11:g.47763498TC[13]	NC_000006.11:g.47763498TC[14]
OPN5 transcript variant 1	NM_181744.3:c.756+199=	NM_181744.3:c.756+199TC[6]	NM_181744.3:c.756+199TC[7]	NM_181744.3:c.756+199TC[8]	NM_181744.3:c.756+199TC[10]	NM_181744.3:c.756+199TC[11]	NM_181744.3:c.756+199TC[12]	NM_181744.3:c.756+199TC[13]	NM_181744.3:c.756+199TC[14]
OPN5 transcript variant 1	NM_181744.4:c.756+199=	NM_181744.4:c.756+199TC[6]	NM_181744.4:c.756+199TC[7]	NM_181744.4:c.756+199TC[8]	NM_181744.4:c.756+199TC[10]	NM_181744.4:c.756+199TC[11]	NM_181744.4:c.756+199TC[12]	NM_181744.4:c.756+199TC[13]	NM_181744.4:c.756+199TC[14]
OPN5 transcript variant X1	XM_017010410.2:c.429+199=	XM_017010410.2:c.429+199TC[6]	XM_017010410.2:c.429+199TC[7]	XM_017010410.2:c.429+199TC[8]	XM_017010410.2:c.429+199TC[10]	XM_017010410.2:c.429+199TC[11]	XM_017010410.2:c.429+199TC[12]	XM_017010410.2:c.429+199TC[13]	XM_017010410.2:c.429+199TC[14]
OPN5 transcript variant X2	XM_017010411.2:c.588+199=	XM_017010411.2:c.588+199TC[6]	XM_017010411.2:c.588+199TC[7]	XM_017010411.2:c.588+199TC[8]	XM_017010411.2:c.588+199TC[10]	XM_017010411.2:c.588+199TC[11]	XM_017010411.2:c.588+199TC[12]	XM_017010411.2:c.588+199TC[13]	XM_017010411.2:c.588+199TC[14]
OPN5 transcript variant X3	XM_017010412.2:c.387+199=	XM_017010412.2:c.387+199TC[6]	XM_017010412.2:c.387+199TC[7]	XM_017010412.2:c.387+199TC[8]	XM_017010412.2:c.387+199TC[10]	XM_017010412.2:c.387+199TC[11]	XM_017010412.2:c.387+199TC[12]	XM_017010412.2:c.387+199TC[13]	XM_017010412.2:c.387+199TC[14]
OPN5 transcript variant X4	XM_017010413.2:c.387+199=	XM_017010413.2:c.387+199TC[6]	XM_017010413.2:c.387+199TC[7]	XM_017010413.2:c.387+199TC[8]	XM_017010413.2:c.387+199TC[10]	XM_017010413.2:c.387+199TC[11]	XM_017010413.2:c.387+199TC[12]	XM_017010413.2:c.387+199TC[13]	XM_017010413.2:c.387+199TC[14]
OPN5 transcript variant X5	XM_017010414.2:c.282+199=	XM_017010414.2:c.282+199TC[6]	XM_017010414.2:c.282+199TC[7]	XM_017010414.2:c.282+199TC[8]	XM_017010414.2:c.282+199TC[10]	XM_017010414.2:c.282+199TC[11]	XM_017010414.2:c.282+199TC[12]	XM_017010414.2:c.282+199TC[13]	XM_017010414.2:c.282+199TC[14]
OPN5 transcript variant X7	XM_017010416.2:c.756+199=	XM_017010416.2:c.756+199TC[6]	XM_017010416.2:c.756+199TC[7]	XM_017010416.2:c.756+199TC[8]	XM_017010416.2:c.756+199TC[10]	XM_017010416.2:c.756+199TC[11]	XM_017010416.2:c.756+199TC[12]	XM_017010416.2:c.756+199TC[13]	XM_017010416.2:c.756+199TC[14]
OPN5 transcript variant X6	XM_047418325.1:c.261+199=	XM_047418325.1:c.261+199TC[6]	XM_047418325.1:c.261+199TC[7]	XM_047418325.1:c.261+199TC[8]	XM_047418325.1:c.261+199TC[10]	XM_047418325.1:c.261+199TC[11]	XM_047418325.1:c.261+199TC[12]	XM_047418325.1:c.261+199TC[13]	XM_047418325.1:c.261+199TC[14]

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#.

48 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77833051	Oct 12, 2018 (152)
2	BUSHMAN	ss193861100	Jul 04, 2010 (132)
3	1000GENOMES	ss327095902	May 09, 2011 (134)
4	LUNTER	ss551796652	Apr 25, 2013 (138)
5	EVA_UK10K_ALSPAC	ss1705154258	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1705154283	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710268986	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710268989	Apr 01, 2015 (144)
9	SWEGEN	ss2999025157	Nov 08, 2017 (151)
10	MCHAISSO	ss3065082911	Jan 10, 2018 (151)
11	EVA_DECODE	ss3717163789	Jul 13, 2019 (153)
12	EVA_DECODE	ss3717163790	Jul 13, 2019 (153)
13	EVA_DECODE	ss3717163791	Jul 13, 2019 (153)
14	EVA_DECODE	ss3717163792	Jul 13, 2019 (153)
15	EVA_DECODE	ss3717163793	Jul 13, 2019 (153)
16	EVA_DECODE	ss3717163802	Jul 13, 2019 (153)
17	ACPOP	ss3733484252	Jul 13, 2019 (153)
18	ACPOP	ss3733484253	Jul 13, 2019 (153)
19	ACPOP	ss3733484254	Jul 13, 2019 (153)
20	EVA	ss3829911257	Apr 26, 2020 (154)
21	KOGIC	ss3958989524	Apr 26, 2020 (154)
22	GNOMAD	ss4141317005	Apr 26, 2021 (155)
23	GNOMAD	ss4141317006	Apr 26, 2021 (155)
24	GNOMAD	ss4141317007	Apr 26, 2021 (155)
25	GNOMAD	ss4141317008	Apr 26, 2021 (155)
26	GNOMAD	ss4141317009	Apr 26, 2021 (155)
27	GNOMAD	ss4141317010	Apr 26, 2021 (155)
28	GNOMAD	ss4141317011	Apr 26, 2021 (155)
29	GNOMAD	ss4141317012	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5177396908	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5177396909	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5177396910	Apr 26, 2021 (155)
33	1000G_HIGH_COVERAGE	ss5268361633	Oct 13, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5268361634	Oct 13, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5268361635	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5466043104	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5466043105	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5466043106	Oct 13, 2022 (156)
39	HUGCELL_USP	ss5466043107	Oct 13, 2022 (156)
40	HUGCELL_USP	ss5466043108	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5715412699	Oct 13, 2022 (156)
42	TOMMO_GENOMICS	ss5715412700	Oct 13, 2022 (156)
43	TOMMO_GENOMICS	ss5715412701	Oct 13, 2022 (156)
44	EVA	ss5800131921	Oct 13, 2022 (156)
45	YY_MCH	ss5807447061	Oct 13, 2022 (156)
46	EVA	ss5842210368	Oct 13, 2022 (156)
47	EVA	ss5842210369	Oct 13, 2022 (156)
48	EVA	ss5980368412	Oct 13, 2022 (156)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17746534 (NC_000006.11:47763497::TC 628/3854) Row 17746535 (NC_000006.11:47763497:TCTC: 189/3854)	-	Oct 12, 2018 (152)
50	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 17746534 (NC_000006.11:47763497::TC 628/3854) Row 17746535 (NC_000006.11:47763497:TCTC: 189/3854)	-	Oct 12, 2018 (152)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 224491370 (NC_000006.12:47795761::TC 17208/126272) Row 224491371 (NC_000006.12:47795761::TCTC 435/126870) Row 224491372 (NC_000006.12:47795761::TCTCTC 2049/126646)...	-	Apr 26, 2021 (155)
59	Korean Genome Project	NC_000006.12 - 47795762	Apr 26, 2020 (154)
60	Northern Sweden Submission ignored due to conflicting rows: Row 6769117 (NC_000006.11:47763497::TC 124/600) Row 6769118 (NC_000006.11:47763497:TC: 3/600) Row 6769119 (NC_000006.11:47763497:TCTC: 34/600)	-	Jul 13, 2019 (153)
61	Northern Sweden Submission ignored due to conflicting rows: Row 6769117 (NC_000006.11:47763497::TC 124/600) Row 6769118 (NC_000006.11:47763497:TC: 3/600) Row 6769119 (NC_000006.11:47763497:TCTC: 34/600)	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 6769117 (NC_000006.11:47763497::TC 124/600) Row 6769118 (NC_000006.11:47763497:TC: 3/600) Row 6769119 (NC_000006.11:47763497:TCTC: 34/600)	-	Jul 13, 2019 (153)
63	8.3KJPN Submission ignored due to conflicting rows: Row 35366215 (NC_000006.11:47763497:TC: 2/16716) Row 35366216 (NC_000006.11:47763497::TC 713/16716) Row 35366217 (NC_000006.11:47763497:TCTCTC: 1/16716)	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 35366215 (NC_000006.11:47763497:TC: 2/16716) Row 35366216 (NC_000006.11:47763497::TC 713/16716) Row 35366217 (NC_000006.11:47763497:TCTCTC: 1/16716)	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 35366215 (NC_000006.11:47763497:TC: 2/16716) Row 35366216 (NC_000006.11:47763497::TC 713/16716) Row 35366217 (NC_000006.11:47763497:TCTCTC: 1/16716)	-	Apr 26, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 49249803 (NC_000006.12:47795761::TC 1163/28258) Row 49249804 (NC_000006.12:47795761:TC: 3/28258) Row 49249805 (NC_000006.12:47795761::TCTC 1/28258)	-	Oct 13, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 49249803 (NC_000006.12:47795761::TC 1163/28258) Row 49249804 (NC_000006.12:47795761:TC: 3/28258) Row 49249805 (NC_000006.12:47795761::TCTC 1/28258)	-	Oct 13, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 49249803 (NC_000006.12:47795761::TC 1163/28258) Row 49249804 (NC_000006.12:47795761:TC: 3/28258) Row 49249805 (NC_000006.12:47795761::TCTC 1/28258)	-	Oct 13, 2022 (156)
69	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17746534 (NC_000006.11:47763497::TC 616/3708) Row 17746535 (NC_000006.11:47763497:TCTC: 181/3708)	-	Oct 12, 2018 (152)
70	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17746534 (NC_000006.11:47763497::TC 616/3708) Row 17746535 (NC_000006.11:47763497:TCTC: 181/3708)	-	Oct 12, 2018 (152)
71	ALFA	NC_000006.12 - 47795762	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
ss5177396910	NC_000006.11:47763497:TCTCTC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTC	(self)
ss3717163789, ss4141317012	NC_000006.12:47795761:TCTCTC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTC	(self)
ss327095902	NC_000006.10:47871456:TCTC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC	(self)
ss1705154258, ss1705154283, ss2999025157, ss3733484254, ss3829911257, ss5842210369	NC_000006.11:47763497:TCTC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC	(self)
ss4141317011, ss5268361635, ss5466043106	NC_000006.12:47795761:TCTC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC	(self)
ss3717163790	NC_000006.12:47795763:TCTC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC	(self)
ss3733484253, ss5177396908	NC_000006.11:47763497:TC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC	(self)
ss3065082911, ss4141317010, ss5268361633, ss5466043104, ss5715412700	NC_000006.12:47795761:TC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC	(self)
ss3717163791	NC_000006.12:47795765:TC:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC	(self)
ss193861100	NT_007592.16:47735762:CT:	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC	(self)
ss551796652	NC_000006.10:47871456::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
ss3733484252, ss5177396909, ss5800131921, ss5842210368, ss5980368412	NC_000006.11:47763497::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
ss1710268986, ss1710268989	NC_000006.11:47763501::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
15367525, ss3958989524, ss4141317005, ss5268361634, ss5466043105, ss5715412699, ss5807447061	NC_000006.12:47795761::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
ss3717163792	NC_000006.12:47795767::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
ss3717163802	NC_000006.12:47795779::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
ss77833051	NT_007592.15:47703515::TC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC	(self)
ss4141317006, ss5466043108, ss5715412701	NC_000006.12:47795761::TCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC	(self)
ss3717163793	NC_000006.12:47795767::TCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC	(self)
ss4141317007, ss5466043107	NC_000006.12:47795761::TCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC	(self)
ss4141317008	NC_000006.12:47795761::TCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC	(self)
ss4141317009	NC_000006.12:47795761::TCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC	(self)
5725032752	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC	NC_000006.12:47795761:TCTCTCTCTCTC… NC_000006.12:47795761:TCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC	(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 rs112984403

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs112984403