Name: rs146568478
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.

rs146568478

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:154438211-154438220 (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: delT / dupT / dupTT / dup(T)₇ / du…
delT / dupT / dupTT / dup(T)₇ / dup(T)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.05249 (706/13450, ALFA)
dupT=0.1246 (624/5008, 1000G)
dupT=0.1568 (702/4476, Estonian) (+ 5 more)
dupT=0.1549 (597/3854, ALSPAC)
dupT=0.1610 (597/3708, TWINSUK)
dupT=0.1103 (202/1832, Korea1K)
dupT=0.155 (93/600, NorthernSweden)
dupT=0.17 (7/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IL6R : 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	13450	TTTTTTTTTT=0.94743	TTTTTTTTT=0.00007, TTTTTTTTTTT=0.05249, TTTTTTTTTTTT=0.00000	0.902439	0.007436	0.090125	32
European	Sub	9834	TTTTTTTTTT=0.9282	TTTTTTTTT=0.0001, TTTTTTTTTTT=0.0717, TTTTTTTTTTTT=0.0000	0.866762	0.010171	0.123068	15
African	Sub	2466	TTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	96	TTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	2370	TTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	92	TTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	72	TTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	110	TTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	500	TTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	62	TTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	386	TTTTTTTTTT=0.997	TTTTTTTTT=0.000, TTTTTTTTTTT=0.003, TTTTTTTTTTTT=0.000	0.994819	0.0	0.005181	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	13450	(T)₁₀=0.94743	delT=0.00007, dupT=0.05249, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	9834	(T)₁₀=0.9282	delT=0.0001, dupT=0.0717, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	2466	(T)₁₀=1.0000	delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	500	(T)₁₀=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	386	(T)₁₀=0.997	delT=0.000, dupT=0.003, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	110	(T)₁₀=1.000	delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	92	(T)₁₀=1.00	delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(T)₁₀=1.00	delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.1246
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.0552
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.1012
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.1809
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.200
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.102
Genetic variation in the Estonian population	Estonian	Study-wide	4476	- No frequency provided	dupT=0.1568
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.1549
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.1610
Korean Genome Project	KOREAN	Study-wide	1832	- No frequency provided	dupT=0.1103
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupT=0.155
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.17

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 1	NC_000001.11:g.154438220del
GRCh38.p14 chr 1	NC_000001.11:g.154438220dup
GRCh38.p14 chr 1	NC_000001.11:g.154438219_154438220dup
GRCh38.p14 chr 1	NC_000001.11:g.154438214_154438220dup
GRCh38.p14 chr 1	NC_000001.11:g.154438211_154438220dup
GRCh37.p13 chr 1	NC_000001.10:g.154410696del
GRCh37.p13 chr 1	NC_000001.10:g.154410696dup
GRCh37.p13 chr 1	NC_000001.10:g.154410695_154410696dup
GRCh37.p13 chr 1	NC_000001.10:g.154410690_154410696dup
GRCh37.p13 chr 1	NC_000001.10:g.154410687_154410696dup
IL6R RefSeqGene	NG_012087.1:g.38028del
IL6R RefSeqGene	NG_012087.1:g.38028dup
IL6R RefSeqGene	NG_012087.1:g.38027_38028dup
IL6R RefSeqGene	NG_012087.1:g.38022_38028dup
IL6R RefSeqGene	NG_012087.1:g.38019_38028dup

Gene: IL6R, interleukin 6 receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IL6R transcript variant 1	NM_000565.4:c.949+2110del	N/A	Intron Variant
IL6R transcript variant 4	NM_001382769.1:c.949+2110… NM_001382769.1:c.949+2110del	N/A	Intron Variant
IL6R transcript variant 5	NM_001382770.1:c.949+2110… NM_001382770.1:c.949+2110del	N/A	Intron Variant
IL6R transcript variant 6	NM_001382771.1:c.949+2110… NM_001382771.1:c.949+2110del	N/A	Intron Variant
IL6R transcript variant 7	NM_001382772.1:c.943+2110… NM_001382772.1:c.943+2110del	N/A	Intron Variant
IL6R transcript variant 8	NM_001382773.1:c.949+2110… NM_001382773.1:c.949+2110del	N/A	Intron Variant
IL6R transcript variant 9	NM_001382774.1:c.589+2110… NM_001382774.1:c.589+2110del	N/A	Intron Variant
IL6R transcript variant 2	NM_181359.3:c.949+2110del	N/A	Intron Variant
IL6R transcript variant 3	NM_001206866.2:c.	N/A	Genic Downstream Transcript Variant
IL6R transcript variant X8	XM_005245139.2:c.807+3064… XM_005245139.2:c.807+3064del	N/A	Intron Variant
IL6R transcript variant X1	XM_017001199.2:c.949+2110… XM_017001199.2:c.949+2110del	N/A	Intron Variant
IL6R transcript variant X2	XM_047419648.1:c.886+2110… XM_047419648.1:c.886+2110del	N/A	Intron Variant
IL6R transcript variant X3	XM_047419649.1:c.886+2110… XM_047419649.1:c.886+2110del	N/A	Intron Variant
IL6R transcript variant X4	XM_047419650.1:c.886+2110… XM_047419650.1:c.886+2110del	N/A	Intron Variant
IL6R transcript variant X5	XM_047419654.1:c.807+3064… XM_047419654.1:c.807+3064del	N/A	Intron Variant
IL6R transcript variant X6	XM_047419655.1:c.807+3064… XM_047419655.1:c.807+3064del	N/A	Intron Variant
IL6R transcript variant X7	XM_047419656.1:c.807+3064… XM_047419656.1:c.807+3064del	N/A	Intron Variant
IL6R transcript variant X9	XM_047419657.1:c.807+3064… XM_047419657.1:c.807+3064del	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	(T)₁₀=	delT	dupT	dupTT	dup(T)₇	dup(T)₁₀
GRCh38.p14 chr 1	NC_000001.11:g.154438211_154438220=	NC_000001.11:g.154438220del	NC_000001.11:g.154438220dup	NC_000001.11:g.154438219_154438220dup	NC_000001.11:g.154438214_154438220dup	NC_000001.11:g.154438211_154438220dup
GRCh37.p13 chr 1	NC_000001.10:g.154410687_154410696=	NC_000001.10:g.154410696del	NC_000001.10:g.154410696dup	NC_000001.10:g.154410695_154410696dup	NC_000001.10:g.154410690_154410696dup	NC_000001.10:g.154410687_154410696dup
IL6R RefSeqGene	NG_012087.1:g.38019_38028=	NG_012087.1:g.38028del	NG_012087.1:g.38028dup	NG_012087.1:g.38027_38028dup	NG_012087.1:g.38022_38028dup	NG_012087.1:g.38019_38028dup
IL6R transcript variant 1	NM_000565.3:c.949+2101=	NM_000565.3:c.949+2110del	NM_000565.3:c.949+2110dup	NM_000565.3:c.949+2109_949+2110dup	NM_000565.3:c.949+2104_949+2110dup	NM_000565.3:c.949+2101_949+2110dup
IL6R transcript variant 1	NM_000565.4:c.949+2101=	NM_000565.4:c.949+2110del	NM_000565.4:c.949+2110dup	NM_000565.4:c.949+2109_949+2110dup	NM_000565.4:c.949+2104_949+2110dup	NM_000565.4:c.949+2101_949+2110dup
IL6R transcript variant 4	NM_001382769.1:c.949+2101=	NM_001382769.1:c.949+2110del	NM_001382769.1:c.949+2110dup	NM_001382769.1:c.949+2109_949+2110dup	NM_001382769.1:c.949+2104_949+2110dup	NM_001382769.1:c.949+2101_949+2110dup
IL6R transcript variant 5	NM_001382770.1:c.949+2101=	NM_001382770.1:c.949+2110del	NM_001382770.1:c.949+2110dup	NM_001382770.1:c.949+2109_949+2110dup	NM_001382770.1:c.949+2104_949+2110dup	NM_001382770.1:c.949+2101_949+2110dup
IL6R transcript variant 6	NM_001382771.1:c.949+2101=	NM_001382771.1:c.949+2110del	NM_001382771.1:c.949+2110dup	NM_001382771.1:c.949+2109_949+2110dup	NM_001382771.1:c.949+2104_949+2110dup	NM_001382771.1:c.949+2101_949+2110dup
IL6R transcript variant 7	NM_001382772.1:c.943+2101=	NM_001382772.1:c.943+2110del	NM_001382772.1:c.943+2110dup	NM_001382772.1:c.943+2109_943+2110dup	NM_001382772.1:c.943+2104_943+2110dup	NM_001382772.1:c.943+2101_943+2110dup
IL6R transcript variant 8	NM_001382773.1:c.949+2101=	NM_001382773.1:c.949+2110del	NM_001382773.1:c.949+2110dup	NM_001382773.1:c.949+2109_949+2110dup	NM_001382773.1:c.949+2104_949+2110dup	NM_001382773.1:c.949+2101_949+2110dup
IL6R transcript variant 9	NM_001382774.1:c.589+2101=	NM_001382774.1:c.589+2110del	NM_001382774.1:c.589+2110dup	NM_001382774.1:c.589+2109_589+2110dup	NM_001382774.1:c.589+2104_589+2110dup	NM_001382774.1:c.589+2101_589+2110dup
IL6R transcript variant 2	NM_181359.2:c.949+2101=	NM_181359.2:c.949+2110del	NM_181359.2:c.949+2110dup	NM_181359.2:c.949+2109_949+2110dup	NM_181359.2:c.949+2104_949+2110dup	NM_181359.2:c.949+2101_949+2110dup
IL6R transcript variant 2	NM_181359.3:c.949+2101=	NM_181359.3:c.949+2110del	NM_181359.3:c.949+2110dup	NM_181359.3:c.949+2109_949+2110dup	NM_181359.3:c.949+2104_949+2110dup	NM_181359.3:c.949+2101_949+2110dup
IL6R transcript variant X1	XM_005245138.1:c.886+2101=	XM_005245138.1:c.886+2110del	XM_005245138.1:c.886+2110dup	XM_005245138.1:c.886+2109_886+2110dup	XM_005245138.1:c.886+2104_886+2110dup	XM_005245138.1:c.886+2101_886+2110dup
IL6R transcript variant X6	XM_005245139.1:c.807+3055=	XM_005245139.1:c.807+3064del	XM_005245139.1:c.807+3064dup	XM_005245139.1:c.807+3063_807+3064dup	XM_005245139.1:c.807+3058_807+3064dup	XM_005245139.1:c.807+3055_807+3064dup
IL6R transcript variant X8	XM_005245139.2:c.807+3055=	XM_005245139.2:c.807+3064del	XM_005245139.2:c.807+3064dup	XM_005245139.2:c.807+3063_807+3064dup	XM_005245139.2:c.807+3058_807+3064dup	XM_005245139.2:c.807+3055_807+3064dup
IL6R transcript variant X4	XM_005245140.1:c.807+3055=	XM_005245140.1:c.807+3064del	XM_005245140.1:c.807+3064dup	XM_005245140.1:c.807+3063_807+3064dup	XM_005245140.1:c.807+3058_807+3064dup	XM_005245140.1:c.807+3055_807+3064dup
IL6R transcript variant X1	XM_017001199.2:c.949+2101=	XM_017001199.2:c.949+2110del	XM_017001199.2:c.949+2110dup	XM_017001199.2:c.949+2109_949+2110dup	XM_017001199.2:c.949+2104_949+2110dup	XM_017001199.2:c.949+2101_949+2110dup
IL6R transcript variant X2	XM_047419648.1:c.886+2101=	XM_047419648.1:c.886+2110del	XM_047419648.1:c.886+2110dup	XM_047419648.1:c.886+2109_886+2110dup	XM_047419648.1:c.886+2104_886+2110dup	XM_047419648.1:c.886+2101_886+2110dup
IL6R transcript variant X3	XM_047419649.1:c.886+2101=	XM_047419649.1:c.886+2110del	XM_047419649.1:c.886+2110dup	XM_047419649.1:c.886+2109_886+2110dup	XM_047419649.1:c.886+2104_886+2110dup	XM_047419649.1:c.886+2101_886+2110dup
IL6R transcript variant X4	XM_047419650.1:c.886+2101=	XM_047419650.1:c.886+2110del	XM_047419650.1:c.886+2110dup	XM_047419650.1:c.886+2109_886+2110dup	XM_047419650.1:c.886+2104_886+2110dup	XM_047419650.1:c.886+2101_886+2110dup
IL6R transcript variant X5	XM_047419654.1:c.807+3055=	XM_047419654.1:c.807+3064del	XM_047419654.1:c.807+3064dup	XM_047419654.1:c.807+3063_807+3064dup	XM_047419654.1:c.807+3058_807+3064dup	XM_047419654.1:c.807+3055_807+3064dup
IL6R transcript variant X6	XM_047419655.1:c.807+3055=	XM_047419655.1:c.807+3064del	XM_047419655.1:c.807+3064dup	XM_047419655.1:c.807+3063_807+3064dup	XM_047419655.1:c.807+3058_807+3064dup	XM_047419655.1:c.807+3055_807+3064dup
IL6R transcript variant X7	XM_047419656.1:c.807+3055=	XM_047419656.1:c.807+3064del	XM_047419656.1:c.807+3064dup	XM_047419656.1:c.807+3063_807+3064dup	XM_047419656.1:c.807+3058_807+3064dup	XM_047419656.1:c.807+3055_807+3064dup
IL6R transcript variant X9	XM_047419657.1:c.807+3055=	XM_047419657.1:c.807+3064del	XM_047419657.1:c.807+3064dup	XM_047419657.1:c.807+3063_807+3064dup	XM_047419657.1:c.807+3058_807+3064dup	XM_047419657.1:c.807+3055_807+3064dup

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#.

45 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss326086759	May 09, 2011 (134)
2	1000GENOMES	ss326089739	May 09, 2011 (134)
3	1000GENOMES	ss326117945	Jan 10, 2018 (151)
4	LUNTER	ss550982046	Apr 25, 2013 (138)
5	LUNTER	ss550998771	Apr 25, 2013 (138)
6	LUNTER	ss552807530	Apr 25, 2013 (138)
7	TISHKOFF	ss554410344	Apr 25, 2013 (138)
8	SSMP	ss663122251	Apr 01, 2015 (144)
9	1000GENOMES	ss1367856011	Aug 21, 2014 (142)
10	EVA_GENOME_DK	ss1574028239	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1701252687	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1701252701	Apr 01, 2015 (144)
13	JJLAB	ss2030349667	Sep 14, 2016 (149)
14	SYSTEMSBIOZJU	ss2624494602	Nov 08, 2017 (151)
15	SWEGEN	ss2987750596	Nov 08, 2017 (151)
16	MCHAISSO	ss3063609217	Nov 08, 2017 (151)
17	BIOINF_KMB_FNS_UNIBA	ss3645072699	Oct 11, 2018 (152)
18	EGCUT_WGS	ss3655690581	Jul 12, 2019 (153)
19	EVA_DECODE	ss3687780313	Jul 12, 2019 (153)
20	EVA_DECODE	ss3687780314	Jul 12, 2019 (153)
21	EVA_DECODE	ss3687780315	Jul 12, 2019 (153)
22	EVA_DECODE	ss3687780316	Jul 12, 2019 (153)
23	ACPOP	ss3727484937	Jul 12, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3799808789	Jul 12, 2019 (153)
25	EVA	ss3826423617	Apr 25, 2020 (154)
26	EVA	ss3836606301	Apr 25, 2020 (154)
27	EVA	ss3842015517	Apr 25, 2020 (154)
28	KOGIC	ss3945648982	Apr 25, 2020 (154)
29	GNOMAD	ss4003717514	Apr 25, 2021 (155)
30	GNOMAD	ss4003717515	Apr 25, 2021 (155)
31	GNOMAD	ss4003717516	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5146478384	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5146478385	Apr 25, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5244289724	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5244289725	Oct 17, 2022 (156)
36	HUGCELL_USP	ss5444883502	Oct 17, 2022 (156)
37	HUGCELL_USP	ss5444883503	Oct 17, 2022 (156)
38	EVA	ss5506029074	Oct 17, 2022 (156)
39	TOMMO_GENOMICS	ss5673672612	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5673672613	Oct 17, 2022 (156)
41	YY_MCH	ss5801259345	Oct 17, 2022 (156)
42	EVA	ss5832664257	Oct 17, 2022 (156)
43	EVA	ss5849108524	Oct 17, 2022 (156)
44	EVA	ss5910241778	Oct 17, 2022 (156)
45	EVA	ss5938383485	Oct 17, 2022 (156)
46	1000Genomes	NC_000001.10 - 154410687	Oct 11, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 154410687	Oct 11, 2018 (152)
48	Genetic variation in the Estonian population	NC_000001.10 - 154410687	Oct 11, 2018 (152)
49	The Danish reference pan genome	NC_000001.10 - 154410687	Apr 25, 2020 (154)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 27022277 (NC_000001.11:154438210::T 17356/136276) Row 27022278 (NC_000001.11:154438210::TT 4/136370) Row 27022279 (NC_000001.11:154438210:T: 461/136342)	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 27022277 (NC_000001.11:154438210::T 17356/136276) Row 27022278 (NC_000001.11:154438210::TT 4/136370) Row 27022279 (NC_000001.11:154438210:T: 461/136342)	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 27022277 (NC_000001.11:154438210::T 17356/136276) Row 27022278 (NC_000001.11:154438210::TT 4/136370) Row 27022279 (NC_000001.11:154438210:T: 461/136342)	-	Apr 25, 2021 (155)
53	Korean Genome Project	NC_000001.11 - 154438211	Apr 25, 2020 (154)
54	Northern Sweden	NC_000001.10 - 154410687	Jul 12, 2019 (153)
55	8.3KJPN Submission ignored due to conflicting rows: Row 4447691 (NC_000001.10:154410686::T 1718/16760) Row 4447692 (NC_000001.10:154410686:T: 10/16760)	-	Apr 25, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 4447691 (NC_000001.10:154410686::T 1718/16760) Row 4447692 (NC_000001.10:154410686:T: 10/16760)	-	Apr 25, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 7509716 (NC_000001.11:154438210::T 2882/28256) Row 7509717 (NC_000001.11:154438210:T: 10/28256)	-	Oct 17, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 7509716 (NC_000001.11:154438210::T 2882/28256) Row 7509717 (NC_000001.11:154438210:T: 10/28256)	-	Oct 17, 2022 (156)
59	UK 10K study - Twins	NC_000001.10 - 154410687	Oct 11, 2018 (152)
60	ALFA	NC_000001.11 - 154438211	Apr 25, 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)
rs371534109	May 15, 2013 (138)
rs372947609	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss326117945, ss550998771	NC_000001.9:152677310:T:	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTT	(self)
ss5146478385, ss5506029074	NC_000001.10:154410686:T:	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTT	(self)
ss3687780313, ss4003717516, ss5244289725, ss5444883503, ss5673672613	NC_000001.11:154438210:T:	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTT	(self)
3566414603	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTT	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTT	(self)
ss326086759, ss326089739, ss550982046, ss552807530	NC_000001.9:152677310::T	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	(self)
3713725, 2018949, 1428829, 173420, 769802, 2018949, ss663122251, ss1367856011, ss1574028239, ss1701252687, ss1701252701, ss2030349667, ss2624494602, ss2987750596, ss3655690581, ss3727484937, ss3826423617, ss3836606301, ss5146478384, ss5832664257, ss5938383485	NC_000001.10:154410686::T	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss554410344	NC_000001.10:154410696::T	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	(self)
2026983, ss3063609217, ss3645072699, ss3799808789, ss3842015517, ss3945648982, ss4003717514, ss5244289724, ss5444883502, ss5673672612, ss5801259345, ss5849108524, ss5910241778	NC_000001.11:154438210::T	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	(self)
3566414603	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss3687780314	NC_000001.11:154438211::T	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT	(self)
ss4003717515	NC_000001.11:154438210::TT	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTT	(self)
3566414603	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3687780315	NC_000001.11:154438211::TTTTTTT	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3687780316	NC_000001.11:154438211::TTTTTTTTTT	NC_000001.11:154438210:TTTTTTTTTT:… NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(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 rs146568478

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

rs146568478