Name: rs5900920
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.

rs5900920

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:131099730-131099749 (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(T)₈ / del(T)₇ / del(T)₄ / delT…
del(T)₈ / del(T)₇ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.1951 (1266/6490, ALFA)
(T)₂₀=0.4511 (2259/5008, 1000G)
(T)₂₀=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AIF1L : 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	6490	TTTTTTTTTTTTTTTTTTTT=0.7764	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.1951, TTTTTTTTTTTTTTTTTTTTT=0.0282, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.720832	0.105297	0.173871	32
European	Sub	5716	TTTTTTTTTTTTTTTTTTTT=0.7469	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0003, TTTTTTTTTTTTTTTTTTT=0.2208, TTTTTTTTTTTTTTTTTTTTT=0.0320, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.681784	0.120074	0.198141	32
African	Sub	536	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	20	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	516	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	30	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	110	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	18	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	76	TTTTTTTTTTTTTTTTTTTT=0.95	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.05, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00	0.921053	0.026316	0.052632	5

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	6490	(T)₂₀=0.7764	del(T)₈=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0003, delT=0.1951, dupT=0.0282, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	5716	(T)₂₀=0.7469	del(T)₈=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0003, delT=0.2208, dupT=0.0320, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	536	(T)₂₀=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	110	(T)₂₀=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	76	(T)₂₀=0.95	del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.05, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	30	(T)₂₀=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	18	(T)₂₀=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	4	(T)₂₀=1.0	del(T)₈=0.0, del(T)₇=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
1000Genomes	Global	Study-wide	5008	(T)₂₀=0.4511	delT=0.5489
1000Genomes	African	Sub	1322	(T)₂₀=0.4947	delT=0.5053
1000Genomes	East Asian	Sub	1008	(T)₂₀=0.3899	delT=0.6101
1000Genomes	Europe	Sub	1006	(T)₂₀=0.4732	delT=0.5268
1000Genomes	South Asian	Sub	978	(T)₂₀=0.467	delT=0.533
1000Genomes	American	Sub	694	(T)₂₀=0.402	delT=0.598
The Danish reference pan genome	Danish	Study-wide	40	(T)₂₀=0.42	delT=0.57

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 9	NC_000009.12:g.131099742_131099749del
GRCh38.p14 chr 9	NC_000009.12:g.131099743_131099749del
GRCh38.p14 chr 9	NC_000009.12:g.131099746_131099749del
GRCh38.p14 chr 9	NC_000009.12:g.131099747_131099749del
GRCh38.p14 chr 9	NC_000009.12:g.131099748_131099749del
GRCh38.p14 chr 9	NC_000009.12:g.131099749del
GRCh38.p14 chr 9	NC_000009.12:g.131099749dup
GRCh38.p14 chr 9	NC_000009.12:g.131099748_131099749dup
GRCh38.p14 chr 9	NC_000009.12:g.131099747_131099749dup
GRCh37.p13 chr 9	NC_000009.11:g.133975129_133975136del
GRCh37.p13 chr 9	NC_000009.11:g.133975130_133975136del
GRCh37.p13 chr 9	NC_000009.11:g.133975133_133975136del
GRCh37.p13 chr 9	NC_000009.11:g.133975134_133975136del
GRCh37.p13 chr 9	NC_000009.11:g.133975135_133975136del
GRCh37.p13 chr 9	NC_000009.11:g.133975136del
GRCh37.p13 chr 9	NC_000009.11:g.133975136dup
GRCh37.p13 chr 9	NC_000009.11:g.133975135_133975136dup
GRCh37.p13 chr 9	NC_000009.11:g.133975134_133975136dup

Gene: AIF1L, allograft inflammatory factor 1 like (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AIF1L transcript variant 3	NM_001185095.2:c.93+2879_… NM_001185095.2:c.93+2879_93+2886del	N/A	Intron Variant
AIF1L transcript variant 4	NM_001185096.2:c.93+2879_… NM_001185096.2:c.93+2879_93+2886del	N/A	Intron Variant
AIF1L transcript variant 1	NM_031426.4:c.93+2879_93+… NM_031426.4:c.93+2879_93+2886del	N/A	Intron Variant
AIF1L transcript variant 2	NR_033701.2:n.	N/A	Intron Variant
AIF1L transcript variant X1	XM_017015177.2:c.	N/A	Genic Upstream Transcript 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)₂₀=	del(T)₈	del(T)₇	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 9	NC_000009.12:g.131099730_131099749=	NC_000009.12:g.131099742_131099749del	NC_000009.12:g.131099743_131099749del	NC_000009.12:g.131099746_131099749del	NC_000009.12:g.131099747_131099749del	NC_000009.12:g.131099748_131099749del	NC_000009.12:g.131099749del	NC_000009.12:g.131099749dup	NC_000009.12:g.131099748_131099749dup	NC_000009.12:g.131099747_131099749dup
GRCh37.p13 chr 9	NC_000009.11:g.133975117_133975136=	NC_000009.11:g.133975129_133975136del	NC_000009.11:g.133975130_133975136del	NC_000009.11:g.133975133_133975136del	NC_000009.11:g.133975134_133975136del	NC_000009.11:g.133975135_133975136del	NC_000009.11:g.133975136del	NC_000009.11:g.133975136dup	NC_000009.11:g.133975135_133975136dup	NC_000009.11:g.133975134_133975136dup
AIF1L transcript variant 3	NM_001185095.1:c.93+2867=	NM_001185095.1:c.93+2879_93+2886del	NM_001185095.1:c.93+2880_93+2886del	NM_001185095.1:c.93+2883_93+2886del	NM_001185095.1:c.93+2884_93+2886del	NM_001185095.1:c.93+2885_93+2886del	NM_001185095.1:c.93+2886del	NM_001185095.1:c.93+2886dup	NM_001185095.1:c.93+2885_93+2886dup	NM_001185095.1:c.93+2884_93+2886dup
AIF1L transcript variant 3	NM_001185095.2:c.93+2867=	NM_001185095.2:c.93+2879_93+2886del	NM_001185095.2:c.93+2880_93+2886del	NM_001185095.2:c.93+2883_93+2886del	NM_001185095.2:c.93+2884_93+2886del	NM_001185095.2:c.93+2885_93+2886del	NM_001185095.2:c.93+2886del	NM_001185095.2:c.93+2886dup	NM_001185095.2:c.93+2885_93+2886dup	NM_001185095.2:c.93+2884_93+2886dup
AIF1L transcript variant 4	NM_001185096.1:c.93+2867=	NM_001185096.1:c.93+2879_93+2886del	NM_001185096.1:c.93+2880_93+2886del	NM_001185096.1:c.93+2883_93+2886del	NM_001185096.1:c.93+2884_93+2886del	NM_001185096.1:c.93+2885_93+2886del	NM_001185096.1:c.93+2886del	NM_001185096.1:c.93+2886dup	NM_001185096.1:c.93+2885_93+2886dup	NM_001185096.1:c.93+2884_93+2886dup
AIF1L transcript variant 4	NM_001185096.2:c.93+2867=	NM_001185096.2:c.93+2879_93+2886del	NM_001185096.2:c.93+2880_93+2886del	NM_001185096.2:c.93+2883_93+2886del	NM_001185096.2:c.93+2884_93+2886del	NM_001185096.2:c.93+2885_93+2886del	NM_001185096.2:c.93+2886del	NM_001185096.2:c.93+2886dup	NM_001185096.2:c.93+2885_93+2886dup	NM_001185096.2:c.93+2884_93+2886dup
AIF1L transcript variant 1	NM_031426.3:c.93+2867=	NM_031426.3:c.93+2879_93+2886del	NM_031426.3:c.93+2880_93+2886del	NM_031426.3:c.93+2883_93+2886del	NM_031426.3:c.93+2884_93+2886del	NM_031426.3:c.93+2885_93+2886del	NM_031426.3:c.93+2886del	NM_031426.3:c.93+2886dup	NM_031426.3:c.93+2885_93+2886dup	NM_031426.3:c.93+2884_93+2886dup
AIF1L transcript variant 1	NM_031426.4:c.93+2867=	NM_031426.4:c.93+2879_93+2886del	NM_031426.4:c.93+2880_93+2886del	NM_031426.4:c.93+2883_93+2886del	NM_031426.4:c.93+2884_93+2886del	NM_031426.4:c.93+2885_93+2886del	NM_031426.4:c.93+2886del	NM_031426.4:c.93+2886dup	NM_031426.4:c.93+2885_93+2886dup	NM_031426.4:c.93+2884_93+2886dup

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#.

46 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79841932	Aug 21, 2014 (142)
2	HGSV	ss81136998	Dec 15, 2007 (136)
3	HUMANGENOME_JCVI	ss95528302	Feb 06, 2009 (136)
4	PJP	ss295442146	May 09, 2011 (137)
5	PJP	ss295442147	May 09, 2011 (136)
6	1000GENOMES	ss1368856995	Aug 21, 2014 (142)
7	EVA_GENOME_DK	ss1577475371	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1706581072	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1706581133	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710445725	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710445726	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710445727	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1710445729	Apr 01, 2015 (144)
14	SWEGEN	ss3005682089	Nov 08, 2017 (151)
15	MCHAISSO	ss3065248087	Nov 08, 2017 (151)
16	URBANLAB	ss3649250808	Oct 12, 2018 (152)
17	EVA_DECODE	ss3724863176	Jul 13, 2019 (153)
18	EVA_DECODE	ss3724863177	Jul 13, 2019 (153)
19	EVA_DECODE	ss3724863178	Jul 13, 2019 (153)
20	EVA_DECODE	ss3724863179	Jul 13, 2019 (153)
21	PACBIO	ss3786537645	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3812919643	Jul 13, 2019 (153)
23	EVA	ss3831886696	Apr 26, 2020 (154)
24	GNOMAD	ss4210389101	Apr 26, 2021 (155)
25	GNOMAD	ss4210389102	Apr 26, 2021 (155)
26	GNOMAD	ss4210389103	Apr 26, 2021 (155)
27	GNOMAD	ss4210389104	Apr 26, 2021 (155)
28	GNOMAD	ss4210389105	Apr 26, 2021 (155)
29	GNOMAD	ss4210389106	Apr 26, 2021 (155)
30	GNOMAD	ss4210389107	Apr 26, 2021 (155)
31	GNOMAD	ss4210389108	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5195554628	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5195554629	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5195554630	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5282371147	Oct 16, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5282371148	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5282371149	Oct 16, 2022 (156)
38	HUGCELL_USP	ss5478219845	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5478219846	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5478219847	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5740170403	Oct 16, 2022 (156)
42	TOMMO_GENOMICS	ss5740170404	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5740170405	Oct 16, 2022 (156)
44	EVA	ss5829823605	Oct 16, 2022 (156)
45	EVA	ss5829823606	Oct 16, 2022 (156)
46	EVA	ss5829823608	Oct 16, 2022 (156)
47	1000Genomes	NC_000009.11 - 133975117	Oct 12, 2018 (152)
48	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26676757 (NC_000009.11:133975117:T: 1760/3854) Row 26676759 (NC_000009.11:133975116:TTT: 280/3854)	-	Oct 12, 2018 (152)
49	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26676757 (NC_000009.11:133975117:T: 1760/3854) Row 26676759 (NC_000009.11:133975116:TTT: 280/3854)	-	Oct 12, 2018 (152)
50	The Danish reference pan genome	NC_000009.11 - 133975117	Apr 26, 2020 (154)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 339234511 (NC_000009.12:131099729::T 2819/103488) Row 339234512 (NC_000009.12:131099729::TT 7/103522) Row 339234513 (NC_000009.12:131099729::TTT 1/103522)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 53523935 (NC_000009.11:133975116:T: 7629/16322) Row 53523936 (NC_000009.11:133975116::T 53/16322) Row 53523937 (NC_000009.11:133975116:TT: 22/16322)	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 53523935 (NC_000009.11:133975116:T: 7629/16322) Row 53523936 (NC_000009.11:133975116::T 53/16322) Row 53523937 (NC_000009.11:133975116:TT: 22/16322)	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 53523935 (NC_000009.11:133975116:T: 7629/16322) Row 53523936 (NC_000009.11:133975116::T 53/16322) Row 53523937 (NC_000009.11:133975116:TT: 22/16322)	-	Apr 26, 2021 (155)
62	14KJPN Submission ignored due to conflicting rows: Row 74007507 (NC_000009.12:131099729:T: 14633/28166) Row 74007508 (NC_000009.12:131099729::T 94/28166) Row 74007509 (NC_000009.12:131099729:TT: 32/28166)	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 74007507 (NC_000009.12:131099729:T: 14633/28166) Row 74007508 (NC_000009.12:131099729::T 94/28166) Row 74007509 (NC_000009.12:131099729:TT: 32/28166)	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 74007507 (NC_000009.12:131099729:T: 14633/28166) Row 74007508 (NC_000009.12:131099729::T 94/28166) Row 74007509 (NC_000009.12:131099729:TT: 32/28166)	-	Oct 16, 2022 (156)
65	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26676757 (NC_000009.11:133975117:T: 1629/3708) Row 26676759 (NC_000009.11:133975116:TTT: 290/3708)	-	Oct 12, 2018 (152)
66	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26676757 (NC_000009.11:133975117:TT: 1629/3708) Row 26676758 (NC_000009.11:133975118:T: 1092/3708) Row 26676759 (NC_000009.11:133975116:TTT: 290/3708)	-	Apr 26, 2020 (154)
67	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26676757 (NC_000009.11:133975117:T: 1629/3708) Row 26676759 (NC_000009.11:133975116:TTT: 290/3708)	-	Oct 12, 2018 (152)
68	ALFA	NC_000009.12 - 131099730	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)
rs67045375	May 11, 2012 (137)
rs67045376	Feb 26, 2009 (130)
rs67045377	Feb 26, 2009 (130)
rs61024960	Oct 14, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4210389108	NC_000009.12:131099729:TTTTTTTT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4210389107	NC_000009.12:131099729:TTTTTTT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss1706581072, ss1706581133, ss5829823608	NC_000009.11:133975116:TTT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3724863176, ss4210389106	NC_000009.12:131099729:TTT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss79841932	NC_000009.9:131004688:TT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5195554630, ss5829823605	NC_000009.11:133975116:TT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss1710445725, ss1710445727	NC_000009.11:133975117:TT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4210389105, ss5282371149, ss5478219847, ss5740170405	NC_000009.12:131099729:TT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3724863177	NC_000009.12:131099730:TT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss81136998	NC_000009.9:131004689:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss295442146	NC_000009.10:132964937:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss295442147	NC_000009.10:132964956:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
47996736, 1305112, ss1368856995, ss1577475371, ss3005682089, ss3786537645, ss3831886696, ss5195554628, ss5829823606	NC_000009.11:133975116:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
	NC_000009.11:133975117:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1710445726, ss1710445729	NC_000009.11:133975118:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3065248087, ss3649250808, ss3812919643, ss4210389104, ss5282371147, ss5478219845, ss5740170403	NC_000009.12:131099729:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3724863178	NC_000009.12:131099731:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss95528302	NT_035014.4:752075:T:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5195554629	NC_000009.11:133975116::T	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4210389101, ss5282371148, ss5478219846, ss5740170404	NC_000009.12:131099729::T	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3724863179	NC_000009.12:131099732::T	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4210389102	NC_000009.12:131099729::TT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4210389103	NC_000009.12:131099729::TTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
9305134253	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3602008334	NC_000009.12:131099729:TTTT:	NC_000009.12:131099729:TTTTTTTTTTT… NC_000009.12:131099729:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

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

No publications for rs5900920

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

rs5900920