Name: rs9357708
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.

rs9357708

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:13385590 (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 / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.498130 (131850/264690, TOPMED)
G=0.489172 (68485/140002, GnomAD)
A=0.49365 (20357/41238, ALFA) (+ 17 more)
A=0.29057 (8211/28258, 14KJPN)
A=0.29135 (4883/16760, 8.3KJPN)
A=0.4884 (3128/6404, 1000G_30x)
A=0.4810 (2409/5008, 1000G)
A=0.4525 (2027/4480, Estonian)
A=0.4543 (1751/3854, ALSPAC)
A=0.4515 (1674/3708, TWINSUK)
A=0.2802 (821/2930, KOREAN)
A=0.2975 (545/1832, Korea1K)
A=0.425 (424/998, GoNL)
A=0.447 (268/600, NorthernSweden)
A=0.268 (118/440, SGDP_PRJ)
G=0.453 (144/318, HapMap)
A=0.449 (97/216, Qatari)
A=0.435 (93/214, Vietnamese)
A=0.22 (11/50, Siberian)
A=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GFOD1 : 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	41238	A=0.49365	C=0.00000, G=0.50635
European	Sub	26730	A=0.47531	C=0.00000, G=0.52469
African	Sub	6336	A=0.7277	C=0.0000, G=0.2723
African Others	Sub	226	A=0.850	C=0.000, G=0.150
African American	Sub	6110	A=0.7232	C=0.0000, G=0.2768
Asian	Sub	344	A=0.305	C=0.000, G=0.695
East Asian	Sub	294	A=0.279	C=0.000, G=0.721
Other Asian	Sub	50	A=0.46	C=0.00, G=0.54
Latin American 1	Sub	458	A=0.548	C=0.000, G=0.452
Latin American 2	Sub	4334	A=0.2884	C=0.0000, G=0.7116
South Asian	Sub	94	A=0.55	C=0.00, G=0.45
Other	Sub	2942	A=0.4701	C=0.0000, G=0.5299

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=0.501870	G=0.498130
gnomAD - Genomes	Global	Study-wide	140002	A=0.510828	G=0.489172
gnomAD - Genomes	European	Sub	75842	A=0.45199	G=0.54801
gnomAD - Genomes	African	Sub	41926	A=0.68115	G=0.31885
gnomAD - Genomes	American	Sub	13636	A=0.39080	G=0.60920
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.3928	G=0.6072
gnomAD - Genomes	East Asian	Sub	3126	A=0.3199	G=0.6801
gnomAD - Genomes	Other	Sub	2150	A=0.4860	G=0.5140
Allele Frequency Aggregator	Total	Global	41238	A=0.49365	C=0.00000, G=0.50635
Allele Frequency Aggregator	European	Sub	26730	A=0.47531	C=0.00000, G=0.52469
Allele Frequency Aggregator	African	Sub	6336	A=0.7277	C=0.0000, G=0.2723
Allele Frequency Aggregator	Latin American 2	Sub	4334	A=0.2884	C=0.0000, G=0.7116
Allele Frequency Aggregator	Other	Sub	2942	A=0.4701	C=0.0000, G=0.5299
Allele Frequency Aggregator	Latin American 1	Sub	458	A=0.548	C=0.000, G=0.452
Allele Frequency Aggregator	Asian	Sub	344	A=0.305	C=0.000, G=0.695
Allele Frequency Aggregator	South Asian	Sub	94	A=0.55	C=0.00, G=0.45
14KJPN	JAPANESE	Study-wide	28258	A=0.29057	G=0.70943
8.3KJPN	JAPANESE	Study-wide	16760	A=0.29135	G=0.70865
1000Genomes_30x	Global	Study-wide	6404	A=0.4884	G=0.5116
1000Genomes_30x	African	Sub	1786	A=0.7161	G=0.2839
1000Genomes_30x	Europe	Sub	1266	A=0.4534	G=0.5466
1000Genomes_30x	South Asian	Sub	1202	A=0.4443	G=0.5557
1000Genomes_30x	East Asian	Sub	1170	A=0.3282	G=0.6718
1000Genomes_30x	American	Sub	980	A=0.364	G=0.636
1000Genomes	Global	Study-wide	5008	A=0.4810	G=0.5190
1000Genomes	African	Sub	1322	A=0.7194	G=0.2806
1000Genomes	East Asian	Sub	1008	A=0.3214	G=0.6786
1000Genomes	Europe	Sub	1006	A=0.4483	G=0.5517
1000Genomes	South Asian	Sub	978	A=0.440	G=0.560
1000Genomes	American	Sub	694	A=0.365	G=0.635
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4525	G=0.5475
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4543	G=0.5457
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4515	G=0.5485
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2802	C=0.0000, G=0.7198, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.2975	G=0.7025
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.425	G=0.575
Northern Sweden	ACPOP	Study-wide	600	A=0.447	G=0.553
SGDP_PRJ	Global	Study-wide	440	A=0.268	G=0.732
HapMap	Global	Study-wide	318	A=0.547	G=0.453
HapMap	African	Sub	114	A=0.807	G=0.193
HapMap	American	Sub	114	A=0.526	G=0.474
HapMap	Asian	Sub	90	A=0.24	G=0.76
Qatari	Global	Study-wide	216	A=0.449	G=0.551
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.435	G=0.565
Siberian	Global	Study-wide	50	A=0.22	G=0.78
The Danish reference pan genome	Danish	Study-wide	40	A=0.40	G=0.60

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 6	NC_000006.12:g.13385590A>C
GRCh38.p14 chr 6	NC_000006.12:g.13385590A>G
GRCh38.p14 chr 6	NC_000006.12:g.13385590A>T
GRCh37.p13 chr 6	NC_000006.11:g.13385822A>C
GRCh37.p13 chr 6	NC_000006.11:g.13385822A>G
GRCh37.p13 chr 6	NC_000006.11:g.13385822A>T

Gene: GFOD1, glucose-fructose oxidoreductase domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GFOD1 transcript variant 2	NM_001242628.2:c.-56-1992… NM_001242628.2:c.-56-19928T>G	N/A	Intron Variant
GFOD1 transcript variant 3	NM_001242630.2:c.-56-1992… NM_001242630.2:c.-56-19928T>G	N/A	Intron Variant
GFOD1 transcript variant 1	NM_018988.4:c.254-19928T>G	N/A	Intron Variant
GFOD1 transcript variant 4	NM_001242629.2:c.	N/A	Genic Downstream Transcript Variant
GFOD1 transcript variant 5	NR_038459.2:n.	N/A	Genic Downstream 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	A=	C	G	T
GRCh38.p14 chr 6	NC_000006.12:g.13385590=	NC_000006.12:g.13385590A>C	NC_000006.12:g.13385590A>G	NC_000006.12:g.13385590A>T
GRCh37.p13 chr 6	NC_000006.11:g.13385822=	NC_000006.11:g.13385822A>C	NC_000006.11:g.13385822A>G	NC_000006.11:g.13385822A>T
GFOD1 transcript variant 2	NM_001242628.1:c.-56-19928=	NM_001242628.1:c.-56-19928T>G	NM_001242628.1:c.-56-19928T>C	NM_001242628.1:c.-56-19928T>A
GFOD1 transcript variant 2	NM_001242628.2:c.-56-19928=	NM_001242628.2:c.-56-19928T>G	NM_001242628.2:c.-56-19928T>C	NM_001242628.2:c.-56-19928T>A
GFOD1 transcript variant 3	NM_001242630.1:c.-56-19928=	NM_001242630.1:c.-56-19928T>G	NM_001242630.1:c.-56-19928T>C	NM_001242630.1:c.-56-19928T>A
GFOD1 transcript variant 3	NM_001242630.2:c.-56-19928=	NM_001242630.2:c.-56-19928T>G	NM_001242630.2:c.-56-19928T>C	NM_001242630.2:c.-56-19928T>A
GFOD1 transcript variant 1	NM_018988.3:c.254-19928=	NM_018988.3:c.254-19928T>G	NM_018988.3:c.254-19928T>C	NM_018988.3:c.254-19928T>A
GFOD1 transcript variant 1	NM_018988.4:c.254-19928=	NM_018988.4:c.254-19928T>G	NM_018988.4:c.254-19928T>C	NM_018988.4:c.254-19928T>A

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#.

62 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12814908	Dec 05, 2003 (119)
2	HGSV	ss81969225	Dec 14, 2007 (130)
3	BGI	ss105981384	Feb 04, 2009 (130)
4	ILLUMINA-UK	ss116315161	Feb 14, 2009 (130)
5	GMI	ss156553266	Dec 01, 2009 (131)
6	ILLUMINA	ss160980183	Dec 01, 2009 (131)
7	COMPLETE_GENOMICS	ss162046502	Jul 04, 2010 (132)
8	BUSHMAN	ss201441120	Jul 04, 2010 (132)
9	1000GENOMES	ss222219270	Jul 14, 2010 (132)
10	1000GENOMES	ss233330793	Jul 14, 2010 (132)
11	1000GENOMES	ss240414512	Jul 15, 2010 (132)
12	GMI	ss278659655	May 04, 2012 (137)
13	PJP	ss293748611	May 09, 2011 (134)
14	ILLUMINA	ss482869157	Sep 08, 2015 (146)
15	TISHKOFF	ss559017855	Apr 25, 2013 (138)
16	SSMP	ss652926397	Apr 25, 2013 (138)
17	EVA-GONL	ss982601358	Aug 21, 2014 (142)
18	JMKIDD_LAB	ss1073394996	Aug 21, 2014 (142)
19	1000GENOMES	ss1319033601	Aug 21, 2014 (142)
20	DDI	ss1430643583	Apr 01, 2015 (144)
21	EVA_GENOME_DK	ss1581540044	Apr 01, 2015 (144)
22	EVA_DECODE	ss1592150789	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1614984401	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1657978434	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1804288686	Sep 08, 2015 (146)
26	WEILL_CORNELL_DGM	ss1925859083	Feb 12, 2016 (147)
27	GENOMED	ss1970315158	Jul 19, 2016 (147)
28	JJLAB	ss2023547152	Sep 14, 2016 (149)
29	USC_VALOUEV	ss2151710486	Dec 20, 2016 (150)
30	HUMAN_LONGEVITY	ss2281905376	Dec 20, 2016 (150)
31	SYSTEMSBIOZJU	ss2626261466	Nov 08, 2017 (151)
32	GRF	ss2707298191	Nov 08, 2017 (151)
33	GNOMAD	ss2835957696	Nov 08, 2017 (151)
34	SWEGEN	ss2998541886	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3025559047	Nov 08, 2017 (151)
36	CSHL	ss3346844584	Nov 08, 2017 (151)
37	ILLUMINA	ss3636760212	Oct 12, 2018 (152)
38	EGCUT_WGS	ss3666470253	Jul 13, 2019 (153)
39	EVA_DECODE	ss3716616290	Jul 13, 2019 (153)
40	ACPOP	ss3733219027	Jul 13, 2019 (153)
41	EVA	ss3764633495	Jul 13, 2019 (153)
42	KHV_HUMAN_GENOMES	ss3807796178	Jul 13, 2019 (153)
43	EVA	ss3829742129	Apr 26, 2020 (154)
44	EVA	ss3838346268	Apr 26, 2020 (154)
45	EVA	ss3843786613	Apr 26, 2020 (154)
46	SGDP_PRJ	ss3863952630	Apr 26, 2020 (154)
47	KRGDB	ss3910696970	Apr 26, 2020 (154)
48	KOGIC	ss3958531083	Apr 26, 2020 (154)
49	TOPMED	ss4694151111	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5176227097	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5267456545	Oct 13, 2022 (156)
52	EVA	ss5363907303	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5465242683	Oct 13, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5552905397	Oct 13, 2022 (156)
55	SANFORD_IMAGENETICS	ss5639801224	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5713911434	Oct 13, 2022 (156)
57	YY_MCH	ss5807166107	Oct 13, 2022 (156)
58	EVA	ss5841816215	Oct 13, 2022 (156)
59	EVA	ss5855211596	Oct 13, 2022 (156)
60	EVA	ss5882718901	Oct 13, 2022 (156)
61	EVA	ss5968299783	Oct 13, 2022 (156)
62	EVA	ss5980344527	Oct 13, 2022 (156)
63	1000Genomes	NC_000006.11 - 13385822	Oct 12, 2018 (152)
64	1000Genomes_30x	NC_000006.12 - 13385590	Oct 13, 2022 (156)
65	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 13385822	Oct 12, 2018 (152)
66	Genetic variation in the Estonian population	NC_000006.11 - 13385822	Oct 12, 2018 (152)
67	The Danish reference pan genome	NC_000006.11 - 13385822	Apr 26, 2020 (154)
68	gnomAD - Genomes	NC_000006.12 - 13385590	Apr 26, 2021 (155)
69	Genome of the Netherlands Release 5	NC_000006.11 - 13385822	Apr 26, 2020 (154)
70	HapMap	NC_000006.12 - 13385590	Apr 26, 2020 (154)
71	KOREAN population from KRGDB	NC_000006.11 - 13385822	Apr 26, 2020 (154)
72	Korean Genome Project	NC_000006.12 - 13385590	Apr 26, 2020 (154)
73	Northern Sweden	NC_000006.11 - 13385822	Jul 13, 2019 (153)
74	Qatari	NC_000006.11 - 13385822	Apr 26, 2020 (154)
75	SGDP_PRJ	NC_000006.11 - 13385822	Apr 26, 2020 (154)
76	Siberian	NC_000006.11 - 13385822	Apr 26, 2020 (154)
77	8.3KJPN	NC_000006.11 - 13385822	Apr 26, 2021 (155)
78	14KJPN	NC_000006.12 - 13385590	Oct 13, 2022 (156)
79	TopMed	NC_000006.12 - 13385590	Apr 26, 2021 (155)
80	UK 10K study - Twins	NC_000006.11 - 13385822	Oct 12, 2018 (152)
81	A Vietnamese Genetic Variation Database	NC_000006.11 - 13385822	Jul 13, 2019 (153)
82	ALFA	NC_000006.12 - 13385590	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)
rs57181075	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
17874364, ss3910696970	NC_000006.11:13385821:A:C	NC_000006.12:13385589:A:C	(self)
10873556429	NC_000006.12:13385589:A:C	NC_000006.12:13385589:A:C	(self)
ss81969225	NC_000006.9:13493800:A:G	NC_000006.12:13385589:A:G	(self)
ss116315161, ss160980183, ss162046502, ss201441120, ss278659655, ss293748611, ss1592150789	NC_000006.10:13493800:A:G	NC_000006.12:13385589:A:G	(self)
30779251, 17140867, 12208501, 7704983, 7605958, 17874364, 6503892, 7901013, 15969610, 4226840, 34196404, 17140867, 3796586, ss222219270, ss233330793, ss240414512, ss482869157, ss559017855, ss652926397, ss982601358, ss1073394996, ss1319033601, ss1430643583, ss1581540044, ss1614984401, ss1657978434, ss1804288686, ss1925859083, ss1970315158, ss2023547152, ss2151710486, ss2626261466, ss2707298191, ss2835957696, ss2998541886, ss3346844584, ss3636760212, ss3666470253, ss3733219027, ss3764633495, ss3829742129, ss3838346268, ss3863952630, ss3910696970, ss5176227097, ss5363907303, ss5639801224, ss5841816215, ss5968299783, ss5980344527	NC_000006.11:13385821:A:G	NC_000006.12:13385589:A:G	(self)
40431332, 217520610, 3065344, 14909084, 47748538, 531528669, 10873556429, ss2281905376, ss3025559047, ss3716616290, ss3807796178, ss3843786613, ss3958531083, ss4694151111, ss5267456545, ss5465242683, ss5552905397, ss5713911434, ss5807166107, ss5855211596, ss5882718901	NC_000006.12:13385589:A:G	NC_000006.12:13385589:A:G	(self)
ss12814908	NT_007592.13:4244072:A:G	NC_000006.12:13385589:A:G	(self)
ss105981384, ss156553266	NT_007592.15:13325821:A:G	NC_000006.12:13385589:A:G	(self)
17874364, ss3910696970	NC_000006.11:13385821:A:T	NC_000006.12:13385589:A: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 rs9357708

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

rs9357708