Name: rs78608382
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.

rs78608382

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:67091587 (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: A>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.103038 (27273/264690, TOPMED)
G=0.03482 (984/28258, 14KJPN)
G=0.01929 (324/16796, ALFA) (+ 14 more)
G=0.03413 (572/16760, 8.3KJPN)
G=0.1209 (774/6404, 1000G_30x)
G=0.1166 (584/5008, 1000G)
G=0.0658 (295/4480, Estonian)
G=0.0451 (174/3854, ALSPAC)
G=0.0405 (150/3708, TWINSUK)
G=0.0619 (181/2922, KOREAN)
G=0.049 (49/998, GoNL)
G=0.055 (33/600, NorthernSweden)
G=0.069 (15/216, Qatari)
A=0.46 (36/78, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
A=0.5 (2/4, Siberian)
G=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	16796	A=0.98071	C=0.00000, G=0.01929
European	Sub	13502	A=0.97763	C=0.00000, G=0.02237
African	Sub	1828	A=0.9956	C=0.0000, G=0.0044
African Others	Sub	82	A=1.00	C=0.00, G=0.00
African American	Sub	1746	A=0.9954	C=0.0000, G=0.0046
Asian	Sub	104	A=1.000	C=0.000, G=0.000
East Asian	Sub	78	A=1.00	C=0.00, G=0.00
Other Asian	Sub	26	A=1.00	C=0.00, G=0.00
Latin American 1	Sub	120	A=1.000	C=0.000, G=0.000
Latin American 2	Sub	554	A=1.000	C=0.000, G=0.000
South Asian	Sub	86	A=1.00	C=0.00, G=0.00
Other	Sub	602	A=0.977	C=0.000, G=0.023

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	A=0.896962	G=0.103038
14KJPN	JAPANESE	Study-wide	28258	A=0.96518	G=0.03482
Allele Frequency Aggregator	Total	Global	16796	A=0.98071	C=0.00000, G=0.01929
Allele Frequency Aggregator	European	Sub	13502	A=0.97763	C=0.00000, G=0.02237
Allele Frequency Aggregator	African	Sub	1828	A=0.9956	C=0.0000, G=0.0044
Allele Frequency Aggregator	Other	Sub	602	A=0.977	C=0.000, G=0.023
Allele Frequency Aggregator	Latin American 2	Sub	554	A=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	120	A=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Asian	Sub	104	A=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	South Asian	Sub	86	A=1.00	C=0.00, G=0.00
8.3KJPN	JAPANESE	Study-wide	16760	A=0.96587	G=0.03413
1000Genomes_30x	Global	Study-wide	6404	A=0.8791	G=0.1209
1000Genomes_30x	African	Sub	1786	A=0.7352	G=0.2648
1000Genomes_30x	Europe	Sub	1266	A=0.9526	G=0.0474
1000Genomes_30x	South Asian	Sub	1202	A=0.9301	G=0.0699
1000Genomes_30x	East Asian	Sub	1170	A=0.9368	G=0.0632
1000Genomes_30x	American	Sub	980	A=0.915	G=0.085
1000Genomes	Global	Study-wide	5008	A=0.8834	G=0.1166
1000Genomes	African	Sub	1322	A=0.7368	G=0.2632
1000Genomes	East Asian	Sub	1008	A=0.9355	G=0.0645
1000Genomes	Europe	Sub	1006	A=0.9493	G=0.0507
1000Genomes	South Asian	Sub	978	A=0.938	G=0.062
1000Genomes	American	Sub	694	A=0.915	G=0.085
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9342	G=0.0658
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9549	G=0.0451
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9595	G=0.0405
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.9381	G=0.0619
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.951	G=0.049
Northern Sweden	ACPOP	Study-wide	600	A=0.945	G=0.055
Qatari	Global	Study-wide	216	A=0.931	G=0.069
SGDP_PRJ	Global	Study-wide	78	A=0.46	G=0.54
The Danish reference pan genome	Danish	Study-wide	40	A=0.90	G=0.10
Siberian	Global	Study-wide	4	A=0.5	G=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 1	NC_000001.11:g.67091587A>C
GRCh38.p14 chr 1	NC_000001.11:g.67091587A>G
GRCh37.p13 chr 1	NC_000001.10:g.67557270A>C
GRCh37.p13 chr 1	NC_000001.10:g.67557270A>G

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	A=	C	G
GRCh38.p14 chr 1	NC_000001.11:g.67091587=	NC_000001.11:g.67091587A>C	NC_000001.11:g.67091587A>G
GRCh37.p13 chr 1	NC_000001.10:g.67557270=	NC_000001.10:g.67557270A>C	NC_000001.10:g.67557270A>G

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#.

43 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss210545869	Jul 14, 2010 (132)
2	1000GENOMES	ss218431662	Jul 14, 2010 (132)
3	1000GENOMES	ss230568910	Jul 14, 2010 (132)
4	1000GENOMES	ss238256836	Jul 15, 2010 (132)
5	GMI	ss275860170	May 04, 2012 (137)
6	SSMP	ss648082405	Apr 25, 2013 (138)
7	EVA-GONL	ss975248366	Aug 21, 2014 (142)
8	JMKIDD_LAB	ss1067954896	Aug 21, 2014 (142)
9	1000GENOMES	ss1291227485	Aug 21, 2014 (142)
10	DDI	ss1425837916	Apr 01, 2015 (144)
11	EVA_GENOME_DK	ss1574121359	Apr 01, 2015 (144)
12	EVA_DECODE	ss1584617878	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1600352457	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1643346490	Apr 01, 2015 (144)
15	WEILL_CORNELL_DGM	ss1918456266	Feb 12, 2016 (147)
16	USC_VALOUEV	ss2147761385	Dec 20, 2016 (150)
17	HUMAN_LONGEVITY	ss2163202905	Dec 20, 2016 (150)
18	GRF	ss2697679033	Nov 08, 2017 (151)
19	GNOMAD	ss2756093488	Nov 08, 2017 (151)
20	SWEGEN	ss2986951130	Nov 08, 2017 (151)
21	CSHL	ss3343493593	Nov 08, 2017 (151)
22	EGCUT_WGS	ss3655021233	Jul 12, 2019 (153)
23	EVA_DECODE	ss3686936629	Jul 12, 2019 (153)
24	ACPOP	ss3727120858	Jul 12, 2019 (153)
25	EVA	ss3746308307	Jul 12, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3799315039	Jul 12, 2019 (153)
27	EVA	ss3826215442	Apr 25, 2020 (154)
28	SGDP_PRJ	ss3849022611	Apr 25, 2020 (154)
29	KRGDB	ss3894050684	Apr 25, 2020 (154)
30	TOPMED	ss4452693449	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5144325631	Apr 25, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5242559921	Oct 12, 2022 (156)
33	EVA	ss5319262844	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5443594195	Oct 12, 2022 (156)
35	EVA	ss5505880525	Oct 12, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5514982816	Oct 12, 2022 (156)
37	SANFORD_IMAGENETICS	ss5625695891	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5669205267	Oct 12, 2022 (156)
39	YY_MCH	ss5800669642	Oct 12, 2022 (156)
40	EVA	ss5832072724	Oct 12, 2022 (156)
41	EVA	ss5848942358	Oct 12, 2022 (156)
42	EVA	ss5908596680	Oct 12, 2022 (156)
43	EVA	ss5937534453	Oct 12, 2022 (156)
44	1000Genomes	NC_000001.10 - 67557270	Oct 11, 2018 (152)
45	1000Genomes_30x	NC_000001.11 - 67091587	Oct 12, 2022 (156)
46	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 67557270	Oct 11, 2018 (152)
47	Genetic variation in the Estonian population	NC_000001.10 - 67557270	Oct 11, 2018 (152)
48	The Danish reference pan genome	NC_000001.10 - 67557270	Apr 25, 2020 (154)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 13809284 (NC_000001.11:67091586:A:C 1/140112) Row 13809285 (NC_000001.11:67091586:A:G 14553/140074)	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 13809284 (NC_000001.11:67091586:A:C 1/140112) Row 13809285 (NC_000001.11:67091586:A:G 14553/140074)	-	Apr 25, 2021 (155)
51	Genome of the Netherlands Release 5	NC_000001.10 - 67557270	Apr 25, 2020 (154)
52	KOREAN population from KRGDB	NC_000001.10 - 67557270	Apr 25, 2020 (154)
53	Northern Sweden	NC_000001.10 - 67557270	Jul 12, 2019 (153)
54	Qatari	NC_000001.10 - 67557270	Apr 25, 2020 (154)
55	SGDP_PRJ	NC_000001.10 - 67557270	Apr 25, 2020 (154)
56	Siberian	NC_000001.10 - 67557270	Apr 25, 2020 (154)
57	8.3KJPN	NC_000001.10 - 67557270	Apr 25, 2021 (155)
58	14KJPN	NC_000001.11 - 67091587	Oct 12, 2022 (156)
59	TopMed	NC_000001.11 - 67091587	Apr 25, 2021 (155)
60	UK 10K study - Twins	NC_000001.10 - 67557270	Oct 11, 2018 (152)
61	ALFA	NC_000001.11 - 67091587	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7518791837	NC_000001.11:67091586:A:C	NC_000001.11:67091586:A:C	(self)
ss210545869, ss275860170, ss1584617878	NC_000001.9:67329857:A:G	NC_000001.11:67091586:A:G	(self)
1957857, 1072636, 759481, 1536795, 457810, 1228078, 405723, 498196, 1039591, 277739, 2294938, 1072636, ss218431662, ss230568910, ss238256836, ss648082405, ss975248366, ss1067954896, ss1291227485, ss1425837916, ss1574121359, ss1600352457, ss1643346490, ss1918456266, ss2147761385, ss2697679033, ss2756093488, ss2986951130, ss3343493593, ss3655021233, ss3727120858, ss3746308307, ss3826215442, ss3849022611, ss3894050684, ss5144325631, ss5319262844, ss5505880525, ss5625695891, ss5832072724, ss5937534453	NC_000001.10:67557269:A:G	NC_000001.11:67091586:A:G	(self)
2508751, 3042371, 16299784, 7518791837, ss2163202905, ss3686936629, ss3799315039, ss4452693449, ss5242559921, ss5443594195, ss5514982816, ss5669205267, ss5800669642, ss5848942358, ss5908596680	NC_000001.11:67091586:A:G	NC_000001.11:67091586:A:G	(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 rs78608382

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

rs78608382