Name: rs397854726
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.

rs397854726

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:86514250-86514261 (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)₆ / delTTT / delTT / delT / …
del(T)₆ / delTTT / delTT / delT / dupT / dupTTT / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.4337 (2373/5472, ALFA)
delTT=0.1207 (465/3854, ALSPAC)
delTT=0.4273 (988/2312, 1000G)

Clinical Significance: Reported in ClinVar
Gene : Consequence: FOXF1 : 3 Prime UTR 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	5472	TTTTTTTTTTTT=0.4797	TTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0760, TTTTTTTTTTT=0.4337, TTTTTTTTTTTTTTTTT=0.0011, TTTTTTTTTTTTTTT=0.0062, TTTTTTTTTTTTTTTTTTT=0.0015, TTTTTTTTTTTTTTTTTT=0.0018, TTTTTTTTTTTTT=0.0000	0.343107	0.266083	0.39081	32
European	Sub	4986	TTTTTTTTTTTT=0.4302	TTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0834, TTTTTTTTTTT=0.4747, TTTTTTTTTTTTTTTTT=0.0012, TTTTTTTTTTTTTTT=0.0068, TTTTTTTTTTTTTTTTTTT=0.0016, TTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTT=0.0000	0.266895	0.296768	0.436337	18
African	Sub	392	TTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	20	TTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	372	TTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	2	TTTTTTTTTTTT=1.0	TTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	TTTTTTTTTTTT=1.0	TTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTT=0	TTTTTT=0, TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	8	TTTTTTTTTTTT=1.0	TTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	16	TTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	50	TTTTTTTTTTTT=0.88	TTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.12, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00	0.84	0.08	0.08	6

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	5472	(T)₁₂=0.4797	del(T)₆=0.0000, delTTT=0.0000, delTT=0.0760, delT=0.4337, dupT=0.0000, dupTTT=0.0062, dup(T)₅=0.0011, dup(T)₆=0.0018, dup(T)₇=0.0015
Allele Frequency Aggregator	European	Sub	4986	(T)₁₂=0.4302	del(T)₆=0.0000, delTTT=0.0000, delTT=0.0834, delT=0.4747, dupT=0.0000, dupTTT=0.0068, dup(T)₅=0.0012, dup(T)₆=0.0020, dup(T)₇=0.0016
Allele Frequency Aggregator	African	Sub	392	(T)₁₂=1.000	del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTTT=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Other	Sub	50	(T)₁₂=0.88	del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.12, dupT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₁₂=1.00	del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(T)₁₂=1.00	del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTTT=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Latin American 2	Sub	8	(T)₁₂=1.0	del(T)₆=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTTT=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0
Allele Frequency Aggregator	Asian	Sub	2	(T)₁₂=1.0	del(T)₆=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTTT=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₁₂=0.8793	delTT=0.1207
1000Genomes	Global	Study-wide	2312	(T)₁₂=0.5727	delTT=0.4273
1000Genomes	African	Sub	997	(T)₁₂=0.508	delTT=0.492
1000Genomes	South Asian	Sub	488	(T)₁₂=0.613	delTT=0.387
1000Genomes	Europe	Sub	391	(T)₁₂=0.662	delTT=0.338
1000Genomes	American	Sub	245	(T)₁₂=0.535	delTT=0.465
1000Genomes	East Asian	Sub	191	(T)₁₂=0.675	delTT=0.325

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 16	NC_000016.10:g.86514256_86514261del
GRCh38.p14 chr 16	NC_000016.10:g.86514259_86514261del
GRCh38.p14 chr 16	NC_000016.10:g.86514260_86514261del
GRCh38.p14 chr 16	NC_000016.10:g.86514261del
GRCh38.p14 chr 16	NC_000016.10:g.86514261dup
GRCh38.p14 chr 16	NC_000016.10:g.86514259_86514261dup
GRCh38.p14 chr 16	NC_000016.10:g.86514257_86514261dup
GRCh38.p14 chr 16	NC_000016.10:g.86514256_86514261dup
GRCh38.p14 chr 16	NC_000016.10:g.86514255_86514261dup
GRCh38.p14 chr 16	NC_000016.10:g.86514253_86514261dup
GRCh37.p13 chr 16	NC_000016.9:g.86547862_86547867del
GRCh37.p13 chr 16	NC_000016.9:g.86547865_86547867del
GRCh37.p13 chr 16	NC_000016.9:g.86547866_86547867del
GRCh37.p13 chr 16	NC_000016.9:g.86547867del
GRCh37.p13 chr 16	NC_000016.9:g.86547867dup
GRCh37.p13 chr 16	NC_000016.9:g.86547865_86547867dup
GRCh37.p13 chr 16	NC_000016.9:g.86547863_86547867dup
GRCh37.p13 chr 16	NC_000016.9:g.86547862_86547867dup
GRCh37.p13 chr 16	NC_000016.9:g.86547861_86547867dup
GRCh37.p13 chr 16	NC_000016.9:g.86547859_86547867dup
FOXF1 RefSeqGene	NG_016273.1:g.8730_8735del
FOXF1 RefSeqGene	NG_016273.1:g.8733_8735del
FOXF1 RefSeqGene	NG_016273.1:g.8734_8735del
FOXF1 RefSeqGene	NG_016273.1:g.8735del
FOXF1 RefSeqGene	NG_016273.1:g.8735dup
FOXF1 RefSeqGene	NG_016273.1:g.8733_8735dup
FOXF1 RefSeqGene	NG_016273.1:g.8731_8735dup
FOXF1 RefSeqGene	NG_016273.1:g.8730_8735dup
FOXF1 RefSeqGene	NG_016273.1:g.8729_8735dup
FOXF1 RefSeqGene	NG_016273.1:g.8727_8735dup

Gene: FOXF1, forkhead box F1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FOXF1 transcript	NM_001451.3:c.1165_1176=	N/A	3 Prime UTR 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.

Allele: delTT (allele ID: 344180 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000310628.4	Alveolar capillary dysplasia with pulmonary venous misalignment	Benign
RCV001672528.3	not provided	Benign

Allele: delT (allele ID: 342561 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000271929.5	Alveolar capillary dysplasia with pulmonary venous misalignment	Conflicting-Interpretations-Of-Pathogenicity
RCV001636904.4	not provided	Benign

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)₁₂=	del(T)₆	delTTT	delTT	delT	dupT	dupTTT	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₉
GRCh38.p14 chr 16	NC_000016.10:g.86514250_86514261=	NC_000016.10:g.86514256_86514261del	NC_000016.10:g.86514259_86514261del	NC_000016.10:g.86514260_86514261del	NC_000016.10:g.86514261del	NC_000016.10:g.86514261dup	NC_000016.10:g.86514259_86514261dup	NC_000016.10:g.86514257_86514261dup	NC_000016.10:g.86514256_86514261dup	NC_000016.10:g.86514255_86514261dup	NC_000016.10:g.86514253_86514261dup
GRCh37.p13 chr 16	NC_000016.9:g.86547856_86547867=	NC_000016.9:g.86547862_86547867del	NC_000016.9:g.86547865_86547867del	NC_000016.9:g.86547866_86547867del	NC_000016.9:g.86547867del	NC_000016.9:g.86547867dup	NC_000016.9:g.86547865_86547867dup	NC_000016.9:g.86547863_86547867dup	NC_000016.9:g.86547862_86547867dup	NC_000016.9:g.86547861_86547867dup	NC_000016.9:g.86547859_86547867dup
FOXF1 RefSeqGene	NG_016273.1:g.8724_8735=	NG_016273.1:g.8730_8735del	NG_016273.1:g.8733_8735del	NG_016273.1:g.8734_8735del	NG_016273.1:g.8735del	NG_016273.1:g.8735dup	NG_016273.1:g.8733_8735dup	NG_016273.1:g.8731_8735dup	NG_016273.1:g.8730_8735dup	NG_016273.1:g.8729_8735dup	NG_016273.1:g.8727_8735dup
FOXF1 transcript	NM_001451.3:c.1165_1176=	NM_001451.3:c.1171_1176del	NM_001451.3:c.1174_1176del	NM_001451.3:c.1175_1176del	NM_001451.3:c.*1176del	NM_001451.3:c.*1176dup	NM_001451.3:c.1174_1176dup	NM_001451.3:c.1172_1176dup	NM_001451.3:c.1171_1176dup	NM_001451.3:c.1170_1176dup	NM_001451.3:c.1168_1176dup
FOXF1 transcript	NM_001451.2:c.1165_1176=	NM_001451.2:c.1171_1176del	NM_001451.2:c.1174_1176del	NM_001451.2:c.1175_1176del	NM_001451.2:c.*1176del	NM_001451.2:c.*1176dup	NM_001451.2:c.1174_1176dup	NM_001451.2:c.1172_1176dup	NM_001451.2:c.1171_1176dup	NM_001451.2:c.1170_1176dup	NM_001451.2:c.1168_1176dup

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#.

63 SubSNP, 17 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40651274	Dec 03, 2013 (138)
2	HGSV	ss77956742	Sep 08, 2015 (146)
3	HGSV	ss81795569	Sep 08, 2015 (146)
4	HGSV	ss81898118	Sep 08, 2015 (146)
5	HGSV	ss82206604	Sep 08, 2015 (146)
6	HUMANGENOME_JCVI	ss96716756	Feb 04, 2009 (136)
7	BGI	ss104710221	Mar 15, 2016 (147)
8	GMI	ss289308875	May 04, 2012 (136)
9	PJP	ss294899737	May 09, 2011 (136)
10	PJP	ss294899738	May 09, 2011 (136)
11	BILGI_BIOE	ss666680390	Apr 25, 2013 (136)
12	1000GENOMES	ss1376188268	Aug 21, 2014 (142)
13	1000GENOMES	ss1376188270	Aug 21, 2014 (136)
14	DDI	ss1536836465	Apr 01, 2015 (136)
15	EVA_UK10K_ALSPAC	ss1708640629	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1708640649	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1710714308	Apr 01, 2015 (136)
18	EVA_UK10K_ALSPAC	ss1710714311	Apr 01, 2015 (136)
19	TMC_SNPDB	ss1997083426	Jul 19, 2016 (136)
20	CLINVAR	ss2137085755	Dec 14, 2016 (149)
21	SYSTEMSBIOZJU	ss2628943784	Nov 08, 2017 (151)
22	SWEGEN	ss3014982321	Nov 08, 2017 (151)
23	MCHAISSO	ss3064696364	Nov 08, 2017 (151)
24	MCHAISSO	ss3065633086	Nov 08, 2017 (151)
25	BIOINF_KMB_FNS_UNIBA	ss3645434142	Oct 12, 2018 (152)
26	BIOINF_KMB_FNS_UNIBA	ss3645434143	Oct 12, 2018 (152)
27	URBANLAB	ss3650571795	Oct 12, 2018 (152)
28	EVA_DECODE	ss3699831966	Jul 13, 2019 (153)
29	EVA_DECODE	ss3699831967	Jul 13, 2019 (153)
30	EVA_DECODE	ss3699831968	Jul 13, 2019 (153)
31	EVA_DECODE	ss3699831969	Jul 13, 2019 (153)
32	ACPOP	ss3741759920	Jul 13, 2019 (153)
33	ACPOP	ss3741759921	Jul 13, 2019 (153)
34	INMEGENXS	ss3745617612	Jul 13, 2019 (153)
35	PACBIO	ss3788115261	Jul 13, 2019 (153)
36	PACBIO	ss3793086678	Jul 13, 2019 (153)
37	PACBIO	ss3793086679	Jul 13, 2019 (153)
38	PACBIO	ss3797972026	Jul 13, 2019 (153)
39	PACBIO	ss3797972027	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3819569039	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3819569040	Jul 13, 2019 (153)
42	EVA	ss3834714538	Apr 27, 2020 (154)
43	EVA	ss3840964668	Apr 27, 2020 (154)
44	EVA	ss3846458133	Apr 27, 2020 (154)
45	FSA-LAB	ss3984100826	Apr 26, 2021 (155)
46	EVA	ss3986071768	Apr 26, 2021 (155)
47	GNOMAD	ss4305917211	Apr 26, 2021 (155)
48	GNOMAD	ss4305917212	Apr 26, 2021 (155)
49	GNOMAD	ss4305917213	Apr 26, 2021 (155)
50	GNOMAD	ss4305917214	Apr 26, 2021 (155)
51	GNOMAD	ss4305917215	Apr 26, 2021 (155)
52	GNOMAD	ss4305917216	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5220892695	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5220892696	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5301973083	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5301973084	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5495216040	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5495216041	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5776285085	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5776285086	Oct 16, 2022 (156)
61	EVA	ss5846807762	Oct 16, 2022 (156)
62	EVA	ss5846807763	Oct 16, 2022 (156)
63	EVA	ss5900258413	Oct 16, 2022 (156)
64	1000Genomes	NC_000016.9 - 86547856	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 86547856	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497966399 (NC_000016.10:86514249::T 54/135256) Row 497966400 (NC_000016.10:86514249::TTT 4/135250) Row 497966401 (NC_000016.10:86514249::TTTTTTT 3/135256)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497966399 (NC_000016.10:86514249::T 54/135256) Row 497966400 (NC_000016.10:86514249::TTT 4/135250) Row 497966401 (NC_000016.10:86514249::TTTTTTT 3/135256)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497966399 (NC_000016.10:86514249::T 54/135256) Row 497966400 (NC_000016.10:86514249::TTT 4/135250) Row 497966401 (NC_000016.10:86514249::TTTTTTT 3/135256)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497966399 (NC_000016.10:86514249::T 54/135256) Row 497966400 (NC_000016.10:86514249::TTT 4/135250) Row 497966401 (NC_000016.10:86514249::TTTTTTT 3/135256)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497966399 (NC_000016.10:86514249::T 54/135256) Row 497966400 (NC_000016.10:86514249::TTT 4/135250) Row 497966401 (NC_000016.10:86514249::TTTTTTT 3/135256)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 497966399 (NC_000016.10:86514249::T 54/135256) Row 497966400 (NC_000016.10:86514249::TTT 4/135250) Row 497966401 (NC_000016.10:86514249::TTTTTTT 3/135256)...	-	Apr 26, 2021 (155)
72	Northern Sweden Submission ignored due to conflicting rows: Row 15044785 (NC_000016.9:86547855:TT: 61/596) Row 15044786 (NC_000016.9:86547855:T: 365/596)	-	Jul 13, 2019 (153)
73	Northern Sweden Submission ignored due to conflicting rows: Row 15044785 (NC_000016.9:86547855:TT: 61/596) Row 15044786 (NC_000016.9:86547855:T: 365/596)	-	Jul 13, 2019 (153)
74	8.3KJPN Submission ignored due to conflicting rows: Row 78862002 (NC_000016.9:86547855:T: 14973/16760) Row 78862003 (NC_000016.9:86547855:TT: 333/16760)	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 78862002 (NC_000016.9:86547855:T: 14973/16760) Row 78862003 (NC_000016.9:86547855:TT: 333/16760)	-	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 110122189 (NC_000016.10:86514249:T: 25293/28258) Row 110122190 (NC_000016.10:86514249:TT: 570/28258)	-	Oct 16, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 110122189 (NC_000016.10:86514249:T: 25293/28258) Row 110122190 (NC_000016.10:86514249:TT: 570/28258)	-	Oct 16, 2022 (156)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 39180050 (NC_000016.9:86547856:T: 2267/3708) Row 39180051 (NC_000016.9:86547855:TT: 417/3708)	-	Apr 27, 2020 (154)
79	UK 10K study - Twins	-	Oct 12, 2018 (152)
80	ALFA	NC_000016.10 - 86514250	Apr 26, 2021 (155)
81	ClinVar	RCV000271929.5	Oct 16, 2022 (156)
82	ClinVar	RCV000310628.4	Oct 16, 2022 (156)
83	ClinVar	RCV001636904.4	Oct 16, 2022 (156)
84	ClinVar	RCV001672528.3	Oct 16, 2022 (156)

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)
rs35118288	Feb 27, 2017 (136)
rs57726143	May 24, 2008 (130)
rs66863233	May 11, 2012 (137)
rs66863234	Feb 26, 2009 (130)
rs71845725	May 11, 2012 (137)
rs72032932	May 11, 2012 (137)
rs72291937	May 11, 2012 (137)
rs76068275	May 11, 2012 (137)
rs369576987	May 13, 2013 (138)
rs543492784	Feb 27, 2017 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTT	(self)
ss4305917216	NC_000016.10:86514249:TTT:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTT	(self)
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTT	(self)
70609744, 39180051, ss1376188268, ss1708640629, ss1708640649, ss3014982321, ss3741759920, ss3745617612, ss3788115261, ss3793086678, ss3797972026, ss3840964668, ss3984100826, ss5220892696, ss5846807763	NC_000016.9:86547855:TT:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3064696364, ss3065633086, ss3645434143, ss3699831966, ss3819569040, ss3846458133, ss4305917215, ss5301973084, ss5495216041, ss5776285086	NC_000016.10:86514249:TT:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT	(self)
RCV000310628.4, RCV001672528.3, 7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss2137085755	NC_000016.10:86514259:TT:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss104710221	NT_010498.15:40162063:TT:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss289308875, ss294899737	NC_000016.8:85105356:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss77956742, ss81795569, ss81898118, ss82206604, ss294899738	NC_000016.8:85105367:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss666680390, ss1536836465, ss2628943784, ss3741759921, ss3793086679, ss3797972027, ss3834714538, ss3986071768, ss5220892695, ss5846807762	NC_000016.9:86547855:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss1376188270, ss1710714308, ss1710714311, ss1997083426	NC_000016.9:86547856:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3645434142, ss3650571795, ss4305917214, ss5301973083, ss5495216040, ss5776285085, ss5900258413	NC_000016.10:86514249:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
RCV000271929.5, RCV001636904.4, 7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3699831967, ss3819569039	NC_000016.10:86514250:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss96716756	NT_010498.15:40162054:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss40651274	NT_010498.15:40162065:T:	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4305917211	NC_000016.10:86514249::T	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3699831968	NC_000016.10:86514251::T	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4305917212	NC_000016.10:86514249::TTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4305917213	NC_000016.10:86514249::TTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
7749434967	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3699831969	NC_000016.10:86514251::TTTTTTTTT	NC_000016.10:86514249:TTTTTTTTTTTT… NC_000016.10:86514249:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(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 rs397854726

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

rs397854726