Name: rs62066716
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.

rs62066716

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:45211820 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.036533 (9670/264690, TOPMED)
T=0.040075 (5612/140036, GnomAD)
T=0.00011 (3/28258, 14KJPN) (+ 14 more)
T=0.05251 (992/18890, ALFA)
T=0.00012 (2/16760, 8.3KJPN)
T=0.0230 (147/6404, 1000G_30x)
T=0.0230 (115/5008, 1000G)
T=0.0565 (253/4480, Estonian)
T=0.0672 (259/3854, ALSPAC)
T=0.0639 (237/3708, TWINSUK)
T=0.0000 (0/2922, KOREAN)
T=0.052 (52/998, GoNL)
T=0.043 (26/600, NorthernSweden)
T=0.028 (6/216, Qatari)
C=0.46 (12/26, SGDP_PRJ)
C=0.5 (5/10, Siberian)
T=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FMNL1-DT : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18890	C=0.94749	T=0.05251
European	Sub	14286	C=0.93784	T=0.06216
African	Sub	2946	C=0.9868	T=0.0132
African Others	Sub	114	C=1.000	T=0.000
African American	Sub	2832	C=0.9862	T=0.0138
Asian	Sub	112	C=0.991	T=0.009
East Asian	Sub	86	C=0.99	T=0.01
Other Asian	Sub	26	C=1.00	T=0.00
Latin American 1	Sub	146	C=0.986	T=0.014
Latin American 2	Sub	610	C=0.966	T=0.034
South Asian	Sub	98	C=0.97	T=0.03
Other	Sub	692	C=0.945	T=0.055

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
TopMed	Global	Study-wide	264690	C=0.963467	T=0.036533
gnomAD - Genomes	Global	Study-wide	140036	C=0.959925	T=0.040075
gnomAD - Genomes	European	Sub	75852	C=0.94086	T=0.05914
gnomAD - Genomes	African	Sub	42008	C=0.98553	T=0.01447
gnomAD - Genomes	American	Sub	13576	C=0.97429	T=0.02571
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9699	T=0.0301
gnomAD - Genomes	East Asian	Sub	3134	C=0.9990	T=0.0010
gnomAD - Genomes	Other	Sub	2148	C=0.9693	T=0.0307
14KJPN	JAPANESE	Study-wide	28258	C=0.99989	T=0.00011
Allele Frequency Aggregator	Total	Global	18890	C=0.94749	T=0.05251
Allele Frequency Aggregator	European	Sub	14286	C=0.93784	T=0.06216
Allele Frequency Aggregator	African	Sub	2946	C=0.9868	T=0.0132
Allele Frequency Aggregator	Other	Sub	692	C=0.945	T=0.055
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.966	T=0.034
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.986	T=0.014
Allele Frequency Aggregator	Asian	Sub	112	C=0.991	T=0.009
Allele Frequency Aggregator	South Asian	Sub	98	C=0.97	T=0.03
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99988	T=0.00012
1000Genomes_30x	Global	Study-wide	6404	C=0.9770	T=0.0230
1000Genomes_30x	African	Sub	1786	C=0.9950	T=0.0050
1000Genomes_30x	Europe	Sub	1266	C=0.9494	T=0.0506
1000Genomes_30x	South Asian	Sub	1202	C=0.9567	T=0.0433
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.978	T=0.022
1000Genomes	Global	Study-wide	5008	C=0.9770	T=0.0230
1000Genomes	African	Sub	1322	C=0.9939	T=0.0061
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9503	T=0.0497
1000Genomes	South Asian	Sub	978	C=0.959	T=0.041
1000Genomes	American	Sub	694	C=0.976	T=0.024
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9435	T=0.0565
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9328	T=0.0672
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9361	T=0.0639
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=1.0000	T=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.948	T=0.052
Northern Sweden	ACPOP	Study-wide	600	C=0.957	T=0.043
Qatari	Global	Study-wide	216	C=0.972	T=0.028
SGDP_PRJ	Global	Study-wide	26	C=0.46	T=0.54
Siberian	Global	Study-wide	10	C=0.5	T=0.5

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 17	NC_000017.11:g.45211820C>T
GRCh37.p13 chr 17	NC_000017.10:g.43289187C>T

Gene: FMNL1-DT, FMNL1 divergent transcript (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FMNL1-DT transcript	NR_147507.1:n.	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	C=	T
GRCh38.p14 chr 17	NC_000017.11:g.45211820=	NC_000017.11:g.45211820C>T
GRCh37.p13 chr 17	NC_000017.10:g.43289187=	NC_000017.10:g.43289187C>T

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#.

36 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss90593894	Mar 24, 2008 (129)
2	ENSEMBL	ss137080368	Dec 01, 2009 (131)
3	COMPLETE_GENOMICS	ss168193259	Jul 04, 2010 (132)
4	1000GENOMES	ss339708754	May 09, 2011 (134)
5	TISHKOFF	ss565283643	Apr 25, 2013 (138)
6	EVA-GONL	ss993125419	Aug 21, 2014 (142)
7	JMKIDD_LAB	ss1081070009	Aug 21, 2014 (142)
8	1000GENOMES	ss1358728343	Aug 21, 2014 (142)
9	EVA_UK10K_ALSPAC	ss1635688311	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1678682344	Apr 01, 2015 (144)
11	EVA_DECODE	ss1697168930	Apr 01, 2015 (144)
12	WEILL_CORNELL_DGM	ss1936586075	Feb 12, 2016 (147)
13	JJLAB	ss2029069350	Sep 14, 2016 (149)
14	USC_VALOUEV	ss2157541860	Dec 20, 2016 (150)
15	HUMAN_LONGEVITY	ss2216992415	Dec 20, 2016 (150)
16	GNOMAD	ss2950089287	Nov 08, 2017 (151)
17	SWEGEN	ss3015565765	Nov 08, 2017 (151)
18	CSHL	ss3351754224	Nov 08, 2017 (151)
19	BIOINF_KMB_FNS_UNIBA	ss3645454277	Oct 12, 2018 (152)
20	EGCUT_WGS	ss3682450748	Jul 13, 2019 (153)
21	EVA_DECODE	ss3700503710	Jul 13, 2019 (153)
22	ACPOP	ss3742040890	Jul 13, 2019 (153)
23	EVA	ss3834876235	Apr 27, 2020 (154)
24	SGDP_PRJ	ss3885786990	Apr 27, 2020 (154)
25	KRGDB	ss3935484212	Apr 27, 2020 (154)
26	TOPMED	ss5036641438	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5222507253	Apr 27, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5303199785	Oct 16, 2022 (156)
29	EVA	ss5427714190	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5496248471	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5606950643	Oct 16, 2022 (156)
32	SANFORD_IMAGENETICS	ss5660139234	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5778749197	Oct 16, 2022 (156)
34	EVA	ss5834008929	Oct 16, 2022 (156)
35	EVA	ss5914031437	Oct 16, 2022 (156)
36	EVA	ss5951531841	Oct 16, 2022 (156)
37	1000Genomes	NC_000017.10 - 43289187	Oct 12, 2018 (152)
38	1000Genomes_30x	NC_000017.11 - 45211820	Oct 16, 2022 (156)
39	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 43289187	Oct 12, 2018 (152)
40	Genetic variation in the Estonian population	NC_000017.10 - 43289187	Oct 12, 2018 (152)
41	gnomAD - Genomes	NC_000017.11 - 45211820	Apr 27, 2021 (155)
42	Genome of the Netherlands Release 5	NC_000017.10 - 43289187	Apr 27, 2020 (154)
43	KOREAN population from KRGDB	NC_000017.10 - 43289187	Apr 27, 2020 (154)
44	Northern Sweden	NC_000017.10 - 43289187	Jul 13, 2019 (153)
45	Qatari	NC_000017.10 - 43289187	Apr 27, 2020 (154)
46	SGDP_PRJ	NC_000017.10 - 43289187	Apr 27, 2020 (154)
47	Siberian	NC_000017.10 - 43289187	Apr 27, 2020 (154)
48	8.3KJPN	NC_000017.10 - 43289187	Apr 27, 2021 (155)
49	14KJPN	NC_000017.11 - 45211820	Oct 16, 2022 (156)
50	TopMed	NC_000017.11 - 45211820	Apr 27, 2021 (155)
51	UK 10K study - Twins	NC_000017.10 - 43289187	Oct 12, 2018 (152)
52	ALFA	NC_000017.11 - 45211820	Apr 27, 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
ss90593894, ss168193259, ss1697168930	NC_000017.9:40644969:C:T	NC_000017.11:45211819:C:T	(self)
71972876, 39888196, 28188996, 17776427, 42661606, 15325755, 18627997, 37803970, 10058214, 80476560, 39888196, ss339708754, ss565283643, ss993125419, ss1081070009, ss1358728343, ss1635688311, ss1678682344, ss1936586075, ss2029069350, ss2157541860, ss2950089287, ss3015565765, ss3351754224, ss3682450748, ss3742040890, ss3834876235, ss3885786990, ss3935484212, ss5222507253, ss5427714190, ss5660139234, ss5834008929, ss5951531841	NC_000017.10:43289186:C:T	NC_000017.11:45211819:C:T	(self)
94476578, 507808776, 112586301, 252187100, 3995371566, ss2216992415, ss3645454277, ss3700503710, ss5036641438, ss5303199785, ss5496248471, ss5606950643, ss5778749197, ss5914031437	NC_000017.11:45211819:C:T	NC_000017.11:45211819:C:T	(self)
ss137080368	NT_010783.15:8563338:C:T	NC_000017.11:45211819:C:T	(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 rs62066716

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs62066716