Name: rs11817774
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.

rs11817774

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:6265943 (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: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.420756 (111370/264690, TOPMED)
T=0.411335 (57331/139378, GnomAD)
A=0.37093 (10481/28256, 14KJPN) (+ 17 more)
T=0.38061 (6806/17882, ALFA)
A=0.37345 (6259/16760, 8.3KJPN)
T=0.4720 (3023/6404, 1000G_30x)
T=0.4776 (2392/5008, 1000G)
T=0.3433 (1536/4474, Estonian)
T=0.3233 (1246/3854, ALSPAC)
T=0.3366 (1248/3708, TWINSUK)
A=0.3614 (1059/2930, KOREAN)
A=0.3859 (707/1832, Korea1K)
T=0.310 (309/998, GoNL)
T=0.310 (186/600, NorthernSweden)
T=0.306 (136/444, SGDP_PRJ)
T=0.466 (151/324, HapMap)
T=0.352 (76/216, Qatari)
A=0.387 (82/212, Vietnamese)
T=0.26 (12/46, Siberian)
T=0.30 (12/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PFKFB3 : 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	17882	T=0.38061	A=0.61939, C=0.00000
European	Sub	13696	T=0.34302	A=0.65698, C=0.00000
African	Sub	2532	T=0.5344	A=0.4656, C=0.0000
African Others	Sub	96	T=0.53	A=0.47, C=0.00
African American	Sub	2436	T=0.5345	A=0.4655, C=0.0000
Asian	Sub	112	T=0.732	A=0.268, C=0.000
East Asian	Sub	86	T=0.73	A=0.27, C=0.00
Other Asian	Sub	26	T=0.73	A=0.27, C=0.00
Latin American 1	Sub	146	T=0.452	A=0.548, C=0.000
Latin American 2	Sub	610	T=0.477	A=0.523, C=0.000
South Asian	Sub	98	T=0.43	A=0.57, C=0.00
Other	Sub	688	T=0.398	A=0.602, C=0.000

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	T=0.420756	A=0.579244
gnomAD - Genomes	Global	Study-wide	139378	T=0.411335	A=0.588665
gnomAD - Genomes	European	Sub	75612	T=0.34454	A=0.65546
gnomAD - Genomes	African	Sub	41626	T=0.51377	A=0.48623
gnomAD - Genomes	American	Sub	13564	T=0.41758	A=0.58242
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.4234	A=0.5766
gnomAD - Genomes	East Asian	Sub	3122	T=0.6009	A=0.3991
gnomAD - Genomes	Other	Sub	2136	T=0.4443	A=0.5557
14KJPN	JAPANESE	Study-wide	28256	T=0.62907	A=0.37093
Allele Frequency Aggregator	Total	Global	17882	T=0.38061	A=0.61939, C=0.00000
Allele Frequency Aggregator	European	Sub	13696	T=0.34302	A=0.65698, C=0.00000
Allele Frequency Aggregator	African	Sub	2532	T=0.5344	A=0.4656, C=0.0000
Allele Frequency Aggregator	Other	Sub	688	T=0.398	A=0.602, C=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.477	A=0.523, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.452	A=0.548, C=0.000
Allele Frequency Aggregator	Asian	Sub	112	T=0.732	A=0.268, C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.43	A=0.57, C=0.00
8.3KJPN	JAPANESE	Study-wide	16760	T=0.62655	A=0.37345
1000Genomes_30x	Global	Study-wide	6404	T=0.4720	A=0.5280
1000Genomes_30x	African	Sub	1786	T=0.5414	A=0.4586
1000Genomes_30x	Europe	Sub	1266	T=0.3547	A=0.6453
1000Genomes_30x	South Asian	Sub	1202	T=0.3918	A=0.6082
1000Genomes_30x	East Asian	Sub	1170	T=0.6128	A=0.3872
1000Genomes_30x	American	Sub	980	T=0.428	A=0.572
1000Genomes	Global	Study-wide	5008	T=0.4776	A=0.5224
1000Genomes	African	Sub	1322	T=0.5499	A=0.4501
1000Genomes	East Asian	Sub	1008	T=0.6121	A=0.3879
1000Genomes	Europe	Sub	1006	T=0.3579	A=0.6421
1000Genomes	South Asian	Sub	978	T=0.391	A=0.609
1000Genomes	American	Sub	694	T=0.441	A=0.559
Genetic variation in the Estonian population	Estonian	Study-wide	4474	T=0.3433	A=0.6567
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3233	A=0.6767
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3366	A=0.6634
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6386	A=0.3614
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6141	A=0.3859
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.310	A=0.690
Northern Sweden	ACPOP	Study-wide	600	T=0.310	A=0.690
SGDP_PRJ	Global	Study-wide	444	T=0.306	A=0.694
HapMap	Global	Study-wide	324	T=0.466	A=0.534
HapMap	American	Sub	120	T=0.267	A=0.733
HapMap	African	Sub	118	T=0.602	A=0.398
HapMap	Asian	Sub	86	T=0.56	A=0.44
Qatari	Global	Study-wide	216	T=0.352	A=0.648
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.613	A=0.387
Siberian	Global	Study-wide	46	T=0.26	A=0.74
The Danish reference pan genome	Danish	Study-wide	40	T=0.30	A=0.70

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 10	NC_000010.11:g.6265943T>A
GRCh38.p14 chr 10	NC_000010.11:g.6265943T>C
GRCh37.p13 chr 10	NC_000010.10:g.6307906T>A
GRCh37.p13 chr 10	NC_000010.10:g.6307906T>C

Gene: PFKFB3, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PFKFB3 transcript variant 2	NM_001145443.3:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 3	NM_001282630.3:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 4	NM_001314063.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 5	NM_001323016.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 6	NM_001323017.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 8	NM_001363545.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 1	NM_004566.4:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant 7	NR_136554.2:n.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X2	XM_047425341.1:c.1455+395… XM_047425341.1:c.1455+39578T>A	N/A	Intron Variant
PFKFB3 transcript variant X8	XM_005252464.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X10	XM_011519493.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X1	XM_017016329.2:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X3	XM_047425342.1:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X4	XM_047425343.1:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X5	XM_047425344.1:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X6	XM_047425345.1:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X7	XM_047425346.1:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X9	XM_047425347.1:c.	N/A	Genic Downstream Transcript Variant
PFKFB3 transcript variant X11	XM_047425349.1:c.	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	T=	A	C
GRCh38.p14 chr 10	NC_000010.11:g.6265943=	NC_000010.11:g.6265943T>A	NC_000010.11:g.6265943T>C
GRCh37.p13 chr 10	NC_000010.10:g.6307906=	NC_000010.10:g.6307906T>A	NC_000010.10:g.6307906T>C
PFKFB3 transcript variant X2	XM_047425341.1:c.1455+39578=	XM_047425341.1:c.1455+39578T>A	XM_047425341.1:c.1455+39578T>C

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#.

71 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17403147	Feb 28, 2004 (120)
2	ABI	ss39782443	Mar 15, 2006 (126)
3	BCMHGSC_JDW	ss88080913	Mar 23, 2008 (129)
4	BGI	ss102850377	Dec 01, 2009 (131)
5	1000GENOMES	ss109197409	Jan 23, 2009 (130)
6	ILLUMINA-UK	ss119003882	Dec 01, 2009 (131)
7	ENSEMBL	ss131661811	Dec 01, 2009 (131)
8	GMI	ss154522717	Dec 01, 2009 (131)
9	ENSEMBL	ss161352536	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss167743076	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss170369263	Jul 04, 2010 (132)
12	BUSHMAN	ss201097455	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss207057320	Jul 04, 2010 (132)
14	1000GENOMES	ss224544528	Jul 14, 2010 (132)
15	1000GENOMES	ss235038061	Jul 15, 2010 (132)
16	1000GENOMES	ss241773876	Jul 15, 2010 (132)
17	BL	ss254025777	May 09, 2011 (134)
18	GMI	ss280464745	May 04, 2012 (137)
19	GMI	ss286122475	Apr 25, 2013 (138)
20	PJP	ss290900155	May 09, 2011 (134)
21	TISHKOFF	ss561745385	Apr 25, 2013 (138)
22	SSMP	ss656251611	Apr 25, 2013 (138)
23	EVA-GONL	ss987157282	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1076731682	Aug 21, 2014 (142)
25	1000GENOMES	ss1336130012	Aug 21, 2014 (142)
26	DDI	ss1426208828	Apr 01, 2015 (144)
27	EVA_GENOME_DK	ss1574889234	Apr 01, 2015 (144)
28	EVA_DECODE	ss1596805240	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1623911711	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1666905744	Apr 01, 2015 (144)
31	HAMMER_LAB	ss1806238286	Sep 08, 2015 (146)
32	WEILL_CORNELL_DGM	ss1930478208	Feb 12, 2016 (147)
33	GENOMED	ss1967049536	Jul 19, 2016 (147)
34	JJLAB	ss2025962230	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2154204271	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2172358251	Dec 20, 2016 (150)
37	SYSTEMSBIOZJU	ss2627450018	Nov 08, 2017 (151)
38	GRF	ss2698428177	Nov 08, 2017 (151)
39	GNOMAD	ss2885104884	Nov 08, 2017 (151)
40	SWEGEN	ss3005875581	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3026764632	Nov 08, 2017 (151)
42	CSHL	ss3348941934	Nov 08, 2017 (151)
43	EGCUT_WGS	ss3673402683	Jul 13, 2019 (153)
44	EVA_DECODE	ss3689206501	Jul 13, 2019 (153)
45	ACPOP	ss3737026893	Jul 13, 2019 (153)
46	EVA	ss3747699611	Jul 13, 2019 (153)
47	PACBIO	ss3786570187	Jul 13, 2019 (153)
48	PACBIO	ss3791764078	Jul 13, 2019 (153)
49	PACBIO	ss3796645858	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3813062597	Jul 13, 2019 (153)
51	EVA	ss3831947009	Apr 26, 2020 (154)
52	EVA	ss3839504338	Apr 26, 2020 (154)
53	EVA	ss3844970320	Apr 26, 2020 (154)
54	SGDP_PRJ	ss3873453437	Apr 26, 2020 (154)
55	KRGDB	ss3921388889	Apr 26, 2020 (154)
56	KOGIC	ss3967131301	Apr 26, 2020 (154)
57	TOPMED	ss4841242115	Apr 26, 2021 (155)
58	TOMMO_GENOMICS	ss5196096709	Apr 26, 2021 (155)
59	1000G_HIGH_COVERAGE	ss5282789160	Oct 16, 2022 (156)
60	EVA	ss5391360795	Oct 16, 2022 (156)
61	HUGCELL_USP	ss5478580322	Oct 16, 2022 (156)
62	EVA	ss5509892208	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5576116305	Oct 16, 2022 (156)
64	SANFORD_IMAGENETICS	ss5648601864	Oct 16, 2022 (156)
65	TOMMO_GENOMICS	ss5740895928	Oct 16, 2022 (156)
66	YY_MCH	ss5811162634	Oct 16, 2022 (156)
67	EVA	ss5823923241	Oct 16, 2022 (156)
68	EVA	ss5849420734	Oct 16, 2022 (156)
69	EVA	ss5877589585	Oct 16, 2022 (156)
70	EVA	ss5939883089	Oct 16, 2022 (156)
71	EVA	ss5980592493	Oct 16, 2022 (156)
72	1000Genomes	NC_000010.10 - 6307906	Oct 12, 2018 (152)
73	1000Genomes_30x	NC_000010.11 - 6265943	Oct 16, 2022 (156)
74	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 6307906	Oct 12, 2018 (152)
75	Genetic variation in the Estonian population	NC_000010.10 - 6307906	Oct 12, 2018 (152)
76	The Danish reference pan genome	NC_000010.10 - 6307906	Apr 26, 2020 (154)
77	gnomAD - Genomes	NC_000010.11 - 6265943	Apr 26, 2021 (155)
78	Genome of the Netherlands Release 5	NC_000010.10 - 6307906	Apr 26, 2020 (154)
79	HapMap	NC_000010.11 - 6265943	Apr 26, 2020 (154)
80	KOREAN population from KRGDB	NC_000010.10 - 6307906	Apr 26, 2020 (154)
81	Korean Genome Project	NC_000010.11 - 6265943	Apr 26, 2020 (154)
82	Northern Sweden	NC_000010.10 - 6307906	Jul 13, 2019 (153)
83	Qatari	NC_000010.10 - 6307906	Apr 26, 2020 (154)
84	SGDP_PRJ	NC_000010.10 - 6307906	Apr 26, 2020 (154)
85	Siberian	NC_000010.10 - 6307906	Apr 26, 2020 (154)
86	8.3KJPN	NC_000010.10 - 6307906	Apr 26, 2021 (155)
87	14KJPN	NC_000010.11 - 6265943	Oct 16, 2022 (156)
88	TopMed	NC_000010.11 - 6265943	Apr 26, 2021 (155)
89	UK 10K study - Twins	NC_000010.10 - 6307906	Oct 12, 2018 (152)
90	A Vietnamese Genetic Variation Database	NC_000010.10 - 6307906	Jul 13, 2019 (153)
91	ALFA	NC_000010.11 - 6265943	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss88080913, ss109197409, ss119003882, ss167743076, ss170369263, ss201097455, ss207057320, ss254025777, ss280464745, ss286122475, ss290900155, ss1596805240	NC_000010.9:6347911:T:A	NC_000010.11:6265942:T:A	(self)
48471318, 26932108, 19140931, 2014438, 12012171, 28566283, 10311758, 12520138, 25470417, 6720625, 54066016, 26932108, 5978562, ss224544528, ss235038061, ss241773876, ss561745385, ss656251611, ss987157282, ss1076731682, ss1336130012, ss1426208828, ss1574889234, ss1623911711, ss1666905744, ss1806238286, ss1930478208, ss1967049536, ss2025962230, ss2154204271, ss2627450018, ss2698428177, ss2885104884, ss3005875581, ss3348941934, ss3673402683, ss3737026893, ss3747699611, ss3786570187, ss3791764078, ss3796645858, ss3831947009, ss3839504338, ss3873453437, ss3921388889, ss5196096709, ss5391360795, ss5509892208, ss5648601864, ss5823923241, ss5939883089, ss5980592493	NC_000010.10:6307905:T:A	NC_000010.11:6265942:T:A	(self)
63642240, 342415079, 330055, 23509302, 74733032, 56787770, 13034013617, ss2172358251, ss3026764632, ss3689206501, ss3813062597, ss3844970320, ss3967131301, ss4841242115, ss5282789160, ss5478580322, ss5576116305, ss5740895928, ss5811162634, ss5849420734, ss5877589585	NC_000010.11:6265942:T:A	NC_000010.11:6265942:T:A	(self)
ss39782443, ss102850377, ss131661811, ss154522717, ss161352536	NT_008705.16:6247905:T:A	NC_000010.11:6265942:T:A	(self)
ss17403147	NT_077569.2:670801:T:A	NC_000010.11:6265942:T:A	(self)
13034013617	NC_000010.11:6265942:T:C	NC_000010.11:6265942:T:C	(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 rs11817774

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

rs11817774