Name: rs498793
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.

rs498793

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:61857233 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.373426 (98842/264690, TOPMED)
T=0.398521 (79352/199116, ALFA)
T=0.377473 (52816/139920, GnomAD) (+ 20 more)
T=0.12635 (3570/28254, 14KJPN)
T=0.12027 (2015/16754, 8.3KJPN)
T=0.3220 (2062/6404, 1000G_30x)
T=0.3131 (1568/5008, 1000G)
T=0.3815 (1709/4480, Estonian)
T=0.3996 (1540/3854, ALSPAC)
T=0.3948 (1464/3708, TWINSUK)
T=0.0823 (241/2930, KOREAN)
T=0.2968 (618/2082, HGDP_Stanford)
T=0.3333 (628/1884, HapMap)
T=0.0731 (134/1832, Korea1K)
T=0.419 (418/998, GoNL)
T=0.093 (74/792, PRJEB37584)
T=0.430 (258/600, NorthernSweden)
T=0.208 (105/504, SGDP_PRJ)
T=0.435 (94/216, Qatari)
T=0.129 (27/210, Vietnamese)
T=0.20 (11/54, Siberian)
T=0.42 (17/40, GENOME_DK)
T=0.21 (8/38, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FADS2 : Intron Variant
Publications: 14 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	199116	T=0.398521	C=0.601479
European	Sub	172328	T=0.405999	C=0.594001
African	Sub	7034	T=0.3530	C=0.6470
African Others	Sub	264	T=0.364	C=0.636
African American	Sub	6770	T=0.3526	C=0.6474
Asian	Sub	696	T=0.112	C=0.888
East Asian	Sub	552	T=0.107	C=0.893
Other Asian	Sub	144	T=0.132	C=0.868
Latin American 1	Sub	832	T=0.410	C=0.590
Latin American 2	Sub	6870	T=0.3477	C=0.6523
South Asian	Sub	5042	T=0.3118	C=0.6882
Other	Sub	6314	T=0.3997	C=0.6003

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=0.373426	C=0.626574
Allele Frequency Aggregator	Total	Global	199116	T=0.398521	C=0.601479
Allele Frequency Aggregator	European	Sub	172328	T=0.405999	C=0.594001
Allele Frequency Aggregator	African	Sub	7034	T=0.3530	C=0.6470
Allele Frequency Aggregator	Latin American 2	Sub	6870	T=0.3477	C=0.6523
Allele Frequency Aggregator	Other	Sub	6314	T=0.3997	C=0.6003
Allele Frequency Aggregator	South Asian	Sub	5042	T=0.3118	C=0.6882
Allele Frequency Aggregator	Latin American 1	Sub	832	T=0.410	C=0.590
Allele Frequency Aggregator	Asian	Sub	696	T=0.112	C=0.888
gnomAD - Genomes	Global	Study-wide	139920	T=0.377473	C=0.622527
gnomAD - Genomes	European	Sub	75770	T=0.39805	C=0.60195
gnomAD - Genomes	African	Sub	41914	T=0.35029	C=0.64971
gnomAD - Genomes	American	Sub	13636	T=0.40136	C=0.59864
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.4245	C=0.5755
gnomAD - Genomes	East Asian	Sub	3126	T=0.0877	C=0.9123
gnomAD - Genomes	Other	Sub	2150	T=0.3795	C=0.6205
14KJPN	JAPANESE	Study-wide	28254	T=0.12635	C=0.87365
8.3KJPN	JAPANESE	Study-wide	16754	T=0.12027	C=0.87973
1000Genomes_30x	Global	Study-wide	6404	T=0.3220	C=0.6780
1000Genomes_30x	African	Sub	1786	T=0.3712	C=0.6288
1000Genomes_30x	Europe	Sub	1266	T=0.4226	C=0.5774
1000Genomes_30x	South Asian	Sub	1202	T=0.3245	C=0.6755
1000Genomes_30x	East Asian	Sub	1170	T=0.0795	C=0.9205
1000Genomes_30x	American	Sub	980	T=0.389	C=0.611
1000Genomes	Global	Study-wide	5008	T=0.3131	C=0.6869
1000Genomes	African	Sub	1322	T=0.3631	C=0.6369
1000Genomes	East Asian	Sub	1008	T=0.0823	C=0.9177
1000Genomes	Europe	Sub	1006	T=0.4314	C=0.5686
1000Genomes	South Asian	Sub	978	T=0.311	C=0.689
1000Genomes	American	Sub	694	T=0.385	C=0.615
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3815	C=0.6185
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3996	C=0.6004
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3948	C=0.6052
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0823	C=0.9177
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.2968	C=0.7032
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.104	C=0.896
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.302	C=0.698
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.394	C=0.606
HGDP-CEPH-db Supplement 1	Europe	Sub	318	T=0.415	C=0.585
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.339	C=0.661
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.375	C=0.625
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.15	C=0.85
HapMap	Global	Study-wide	1884	T=0.3333	C=0.6667
HapMap	American	Sub	768	T=0.320	C=0.680
HapMap	African	Sub	688	T=0.406	C=0.594
HapMap	Asian	Sub	252	T=0.083	C=0.917
HapMap	Europe	Sub	176	T=0.466	C=0.534
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0731	C=0.9269
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.419	C=0.581
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.093	C=0.907
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.093	C=0.907
Northern Sweden	ACPOP	Study-wide	600	T=0.430	C=0.570
SGDP_PRJ	Global	Study-wide	504	T=0.208	C=0.792
Qatari	Global	Study-wide	216	T=0.435	C=0.565
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.129	C=0.871
Siberian	Global	Study-wide	54	T=0.20	C=0.80
The Danish reference pan genome	Danish	Study-wide	40	T=0.42	C=0.57
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	T=0.21	C=0.79

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 11	NC_000011.10:g.61857233T>C
GRCh37.p13 chr 11	NC_000011.9:g.61624705T>C

Gene: FADS2, fatty acid desaturase 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FADS2 transcript variant 2	NM_001281501.1:c.739+162T… NM_001281501.1:c.739+162T>C	N/A	Intron Variant
FADS2 transcript variant 3	NM_001281502.1:c.712+162T… NM_001281502.1:c.712+162T>C	N/A	Intron Variant
FADS2 transcript variant 1	NM_004265.4:c.805+162T>C	N/A	Intron Variant
FADS2 transcript variant X1	XM_047427889.1:c.805+162T… XM_047427889.1:c.805+162T>C	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	T=	C
GRCh38.p14 chr 11	NC_000011.10:g.61857233=	NC_000011.10:g.61857233T>C
GRCh37.p13 chr 11	NC_000011.9:g.61624705=	NC_000011.9:g.61624705T>C
FADS2 transcript variant 2	NM_001281501.1:c.739+162=	NM_001281501.1:c.739+162T>C
FADS2 transcript variant 3	NM_001281502.1:c.712+162=	NM_001281502.1:c.712+162T>C
FADS2 transcript variant 1	NM_004265.3:c.805+162=	NM_004265.3:c.805+162T>C
FADS2 transcript variant 1	NM_004265.4:c.805+162=	NM_004265.4:c.805+162T>C
FADS2 transcript variant X1	XM_047427889.1:c.805+162=	XM_047427889.1:c.805+162T>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#.

141 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss668706	Aug 11, 2000 (83)
2	KWOK	ss2049583	Oct 18, 2000 (87)
3	YUSUKE	ss3207771	Sep 28, 2001 (100)
4	WI_SSAHASNP	ss12150316	Jul 11, 2003 (116)
5	SC_SNP	ss16127230	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss16511981	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss17412749	Feb 27, 2004 (120)
8	SSAHASNP	ss20749852	Apr 05, 2004 (123)
9	ABI	ss38697309	Mar 14, 2006 (126)
10	ILLUMINA	ss65763862	Oct 14, 2006 (127)
11	ILLUMINA	ss66782608	Nov 29, 2006 (127)
12	ILLUMINA	ss67408978	Nov 29, 2006 (127)
13	ILLUMINA	ss67774803	Nov 29, 2006 (127)
14	ILLUMINA	ss70841266	May 25, 2008 (130)
15	ILLUMINA	ss71425164	May 16, 2007 (127)
16	ILLUMINA	ss75771184	Dec 06, 2007 (129)
17	ILLUMINA	ss79205889	Dec 15, 2007 (130)
18	HGSV	ss82323433	Dec 15, 2007 (130)
19	KRIBB_YJKIM	ss83467672	Dec 15, 2007 (130)
20	BCMHGSC_JDW	ss88612999	Mar 24, 2008 (129)
21	HUMANGENOME_JCVI	ss97483729	Feb 05, 2009 (130)
22	BGI	ss106747175	Feb 05, 2009 (130)
23	1000GENOMES	ss110556822	Jan 25, 2009 (130)
24	1000GENOMES	ss114690211	Jan 25, 2009 (130)
25	ILLUMINA-UK	ss119862206	Dec 01, 2009 (131)
26	ILLUMINA	ss122451204	Dec 01, 2009 (131)
27	ENSEMBL	ss132017982	Dec 01, 2009 (131)
28	ENSEMBL	ss132593727	Dec 01, 2009 (131)
29	ILLUMINA	ss154334600	Dec 01, 2009 (131)
30	GMI	ss156384729	Dec 01, 2009 (131)
31	ILLUMINA	ss159511123	Dec 01, 2009 (131)
32	ILLUMINA	ss160735876	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss168462430	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss170055933	Jul 04, 2010 (132)
35	ILLUMINA	ss172007162	Jul 04, 2010 (132)
36	ILLUMINA	ss173903920	Jul 04, 2010 (132)
37	COMPLETE_GENOMICS	ss175157405	Jul 04, 2010 (132)
38	BUSHMAN	ss202785144	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss207866280	Jul 04, 2010 (132)
40	1000GENOMES	ss225274583	Jul 14, 2010 (132)
41	1000GENOMES	ss235585023	Jul 15, 2010 (132)
42	1000GENOMES	ss242211479	Jul 15, 2010 (132)
43	ILLUMINA	ss244302529	Jul 04, 2010 (132)
44	BL	ss255214790	May 09, 2011 (134)
45	GMI	ss281034623	May 04, 2012 (137)
46	GMI	ss286393845	Apr 25, 2013 (138)
47	PJP	ss291058167	May 09, 2011 (134)
48	ILLUMINA	ss410938246	Sep 17, 2011 (135)
49	ILLUMINA	ss481126223	May 04, 2012 (137)
50	ILLUMINA	ss481148377	May 04, 2012 (137)
51	ILLUMINA	ss482137302	Sep 08, 2015 (146)
52	ILLUMINA	ss485358183	May 04, 2012 (137)
53	ILLUMINA	ss537302975	Sep 08, 2015 (146)
54	TISHKOFF	ss562598503	Apr 25, 2013 (138)
55	SSMP	ss658109223	Apr 25, 2013 (138)
56	ILLUMINA	ss779044559	Aug 21, 2014 (142)
57	ILLUMINA	ss783124801	Sep 08, 2015 (146)
58	ILLUMINA	ss784081451	Aug 21, 2014 (142)
59	ILLUMINA	ss825536407	Apr 01, 2015 (144)
60	ILLUMINA	ss832383625	Sep 08, 2015 (146)
61	ILLUMINA	ss833022434	Jul 13, 2019 (153)
62	ILLUMINA	ss834507443	Aug 21, 2014 (142)
63	EVA-GONL	ss988587752	Aug 21, 2014 (142)
64	JMKIDD_LAB	ss1077777681	Aug 21, 2014 (142)
65	1000GENOMES	ss1341525921	Aug 21, 2014 (142)
66	DDI	ss1426652784	Apr 01, 2015 (144)
67	EVA_GENOME_DK	ss1575748828	Apr 01, 2015 (144)
68	EVA_DECODE	ss1598250349	Apr 01, 2015 (144)
69	EVA_UK10K_ALSPAC	ss1626721861	Apr 01, 2015 (144)
70	EVA_UK10K_TWINSUK	ss1669715894	Apr 01, 2015 (144)
71	EVA_SVP	ss1713258777	Apr 01, 2015 (144)
72	ILLUMINA	ss1752024665	Sep 08, 2015 (146)
73	HAMMER_LAB	ss1806843166	Sep 08, 2015 (146)
74	WEILL_CORNELL_DGM	ss1931946726	Feb 12, 2016 (147)
75	GENOMED	ss1967376963	Jul 19, 2016 (147)
76	JJLAB	ss2026720064	Sep 14, 2016 (149)
77	USC_VALOUEV	ss2155022643	Dec 20, 2016 (150)
78	HUMAN_LONGEVITY	ss2182846967	Dec 20, 2016 (150)
79	SYSTEMSBIOZJU	ss2627833197	Nov 08, 2017 (151)
80	ILLUMINA	ss2632840770	Nov 08, 2017 (151)
81	GRF	ss2699312332	Nov 08, 2017 (151)
82	GNOMAD	ss2900366291	Nov 08, 2017 (151)
83	SWEGEN	ss3008197544	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3027158718	Nov 08, 2017 (151)
85	CSHL	ss3349629692	Nov 08, 2017 (151)
86	ILLUMINA	ss3625602113	Oct 12, 2018 (152)
87	ILLUMINA	ss3626670620	Oct 12, 2018 (152)
88	ILLUMINA	ss3630857762	Oct 12, 2018 (152)
89	ILLUMINA	ss3633686710	Oct 12, 2018 (152)
90	ILLUMINA	ss3634457243	Oct 12, 2018 (152)
91	ILLUMINA	ss3635378297	Oct 12, 2018 (152)
92	ILLUMINA	ss3636141697	Oct 12, 2018 (152)
93	ILLUMINA	ss3637129143	Oct 12, 2018 (152)
94	ILLUMINA	ss3637909787	Oct 12, 2018 (152)
95	ILLUMINA	ss3638969644	Oct 12, 2018 (152)
96	ILLUMINA	ss3639485608	Oct 12, 2018 (152)
97	ILLUMINA	ss3640164582	Oct 12, 2018 (152)
98	ILLUMINA	ss3642908010	Oct 12, 2018 (152)
99	URBANLAB	ss3649625047	Oct 12, 2018 (152)
100	EGCUT_WGS	ss3675535857	Jul 13, 2019 (153)
101	EVA_DECODE	ss3691907217	Jul 13, 2019 (153)
102	ACPOP	ss3738233775	Jul 13, 2019 (153)
103	ILLUMINA	ss3744758089	Jul 13, 2019 (153)
104	EVA	ss3749373895	Jul 13, 2019 (153)
105	ILLUMINA	ss3772258051	Jul 13, 2019 (153)
106	PACBIO	ss3786970036	Jul 13, 2019 (153)
107	PACBIO	ss3792109116	Jul 13, 2019 (153)
108	PACBIO	ss3796991472	Jul 13, 2019 (153)
109	KHV_HUMAN_GENOMES	ss3814717406	Jul 13, 2019 (153)
110	EVA	ss3832660305	Apr 26, 2020 (154)
111	EVA	ss3839888036	Apr 26, 2020 (154)
112	EVA	ss3845367358	Apr 26, 2020 (154)
113	HGDP	ss3847420171	Apr 26, 2020 (154)
114	SGDP_PRJ	ss3876387776	Apr 26, 2020 (154)
115	KRGDB	ss3924751154	Apr 26, 2020 (154)
116	KOGIC	ss3970019364	Apr 26, 2020 (154)
117	FSA-LAB	ss3984004125	Apr 27, 2021 (155)
118	EVA	ss3984651468	Apr 27, 2021 (155)
119	EVA	ss3985536848	Apr 27, 2021 (155)
120	EVA	ss3986528029	Apr 27, 2021 (155)
121	EVA	ss4017540488	Apr 27, 2021 (155)
122	TOPMED	ss4887437686	Apr 27, 2021 (155)
123	TOMMO_GENOMICS	ss5202259404	Apr 27, 2021 (155)
124	1000G_HIGH_COVERAGE	ss5287636911	Oct 16, 2022 (156)
125	EVA	ss5315549842	Oct 16, 2022 (156)
126	HUGCELL_USP	ss5482793160	Oct 16, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5583472940	Oct 16, 2022 (156)
128	EVA	ss5624021498	Oct 16, 2022 (156)
129	SANFORD_IMAGENETICS	ss5651349982	Oct 16, 2022 (156)
130	TOMMO_GENOMICS	ss5750219544	Oct 16, 2022 (156)
131	EVA	ss5799844276	Oct 16, 2022 (156)
132	EVA	ss5800168586	Oct 16, 2022 (156)
133	YY_MCH	ss5812468619	Oct 16, 2022 (156)
134	EVA	ss5836746105	Oct 16, 2022 (156)
135	EVA	ss5848326274	Oct 16, 2022 (156)
136	EVA	ss5850004215	Oct 16, 2022 (156)
137	EVA	ss5920226021	Oct 16, 2022 (156)
138	EVA	ss5936549121	Oct 16, 2022 (156)
139	EVA	ss5942663741	Oct 16, 2022 (156)
140	EVA	ss5979360262	Oct 16, 2022 (156)
141	EVA	ss5981268252	Oct 16, 2022 (156)
142	1000Genomes	NC_000011.9 - 61624705	Oct 12, 2018 (152)
143	1000Genomes_30x	NC_000011.10 - 61857233	Oct 16, 2022 (156)
144	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 61624705	Oct 12, 2018 (152)
145	Genetic variation in the Estonian population	NC_000011.9 - 61624705	Oct 12, 2018 (152)
146	The Danish reference pan genome	NC_000011.9 - 61624705	Apr 26, 2020 (154)
147	gnomAD - Genomes	NC_000011.10 - 61857233	Apr 27, 2021 (155)
148	Genome of the Netherlands Release 5	NC_000011.9 - 61624705	Apr 26, 2020 (154)
149	HGDP-CEPH-db Supplement 1	NC_000011.8 - 61381281	Apr 26, 2020 (154)
150	HapMap	NC_000011.10 - 61857233	Apr 26, 2020 (154)
151	KOREAN population from KRGDB	NC_000011.9 - 61624705	Apr 26, 2020 (154)
152	Korean Genome Project	NC_000011.10 - 61857233	Apr 26, 2020 (154)
153	Northern Sweden	NC_000011.9 - 61624705	Jul 13, 2019 (153)
154	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 61624705	Apr 27, 2021 (155)
155	CNV burdens in cranial meningiomas	NC_000011.9 - 61624705	Apr 27, 2021 (155)
156	Qatari	NC_000011.9 - 61624705	Apr 26, 2020 (154)
157	SGDP_PRJ	NC_000011.9 - 61624705	Apr 26, 2020 (154)
158	Siberian	NC_000011.9 - 61624705	Apr 26, 2020 (154)
159	8.3KJPN	NC_000011.9 - 61624705	Apr 27, 2021 (155)
160	14KJPN	NC_000011.10 - 61857233	Oct 16, 2022 (156)
161	TopMed	NC_000011.10 - 61857233	Apr 27, 2021 (155)
162	UK 10K study - Twins	NC_000011.9 - 61624705	Oct 12, 2018 (152)
163	A Vietnamese Genetic Variation Database	NC_000011.9 - 61624705	Jul 13, 2019 (153)
164	ALFA	NC_000011.10 - 61857233	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).

Associated ID	History Updated (Build)
rs12787849	Oct 08, 2004 (123)
rs59084654	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
98063, ss82323433, ss88612999, ss110556822, ss114690211, ss119862206, ss160735876, ss168462430, ss170055933, ss175157405, ss202785144, ss207866280, ss244302529, ss255214790, ss281034623, ss286393845, ss291058167, ss481126223, ss825536407, ss1598250349, ss1713258777, ss3638969644, ss3639485608, ss3642908010, ss3847420171	NC_000011.8:61381280:T:C	NC_000011.10:61857232:T:C	(self)
54057068, 30018717, 21274105, 2593468, 13396658, 31928548, 11518640, 762775, 200946, 13988656, 28404756, 7538997, 60228711, 30018717, 6664629, ss225274583, ss235585023, ss242211479, ss481148377, ss482137302, ss485358183, ss537302975, ss562598503, ss658109223, ss779044559, ss783124801, ss784081451, ss832383625, ss833022434, ss834507443, ss988587752, ss1077777681, ss1341525921, ss1426652784, ss1575748828, ss1626721861, ss1669715894, ss1752024665, ss1806843166, ss1931946726, ss1967376963, ss2026720064, ss2155022643, ss2627833197, ss2632840770, ss2699312332, ss2900366291, ss3008197544, ss3349629692, ss3625602113, ss3626670620, ss3630857762, ss3633686710, ss3634457243, ss3635378297, ss3636141697, ss3637129143, ss3637909787, ss3640164582, ss3675535857, ss3738233775, ss3744758089, ss3749373895, ss3772258051, ss3786970036, ss3792109116, ss3796991472, ss3832660305, ss3839888036, ss3876387776, ss3924751154, ss3984004125, ss3984651468, ss3985536848, ss3986528029, ss4017540488, ss5202259404, ss5315549842, ss5624021498, ss5651349982, ss5799844276, ss5800168586, ss5836746105, ss5848326274, ss5936549121, ss5942663741, ss5979360262, ss5981268252	NC_000011.9:61624704:T:C	NC_000011.10:61857232:T:C	(self)
70998875, 381542466, 623644, 26397365, 84056648, 102983342, 10332378076, ss2182846967, ss3027158718, ss3649625047, ss3691907217, ss3814717406, ss3845367358, ss3970019364, ss4887437686, ss5287636911, ss5482793160, ss5583472940, ss5750219544, ss5812468619, ss5850004215, ss5920226021	NC_000011.10:61857232:T:C	NC_000011.10:61857232:T:C	(self)
ss12150316	NT_033903.5:6725971:T:C	NC_000011.10:61857232:T:C	(self)
ss16127230, ss16511981, ss17412749, ss20749852	NT_033903.6:6797746:T:C	NC_000011.10:61857232:T:C	(self)
ss668706, ss2049583, ss3207771, ss38697309, ss65763862, ss66782608, ss67408978, ss67774803, ss70841266, ss71425164, ss75771184, ss79205889, ss83467672, ss97483729, ss106747175, ss122451204, ss132017982, ss132593727, ss154334600, ss156384729, ss159511123, ss172007162, ss173903920, ss410938246	NT_167190.1:6930499:T:C	NC_000011.10:61857232:T:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

14 citations for rs498793

PMID	Title	Author	Year	Journal
16893529	Association of fatty acid desaturase genes with attention-deficit/hyperactivity disorder.	Brookes KJ et al.	2006	Biological psychiatry
20427696	Single nucleotide polymorphisms in the FADS gene cluster are associated with delta-5 and delta-6 desaturase activities estimated by serum fatty acid ratios.	Bokor S et al.	2010	Journal of lipid research
20562440	FADS genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population.	Mathias RA et al.	2010	Journal of lipid research
20565855	Genetic variation in lipid desaturases and its impact on the development of human disease.	Merino DM et al.	2010	Lipids in health and disease
21414826	Polymorphisms in FADS1 and FADS2 alter desaturase activity in young Caucasian and Asian adults.	Merino DM et al.	2011	Molecular genetics and metabolism
23285256	Prostatic alpha-linolenic acid (ALA) is positively associated with aggressive prostate cancer: a relationship which may depend on genetic variation in ALA metabolism.	Azrad M et al.	2012	PloS one
25367143	Effects of FADS and ELOVL polymorphisms on indexes of desaturase and elongase activities: results from a pre-post fish oil supplementation.	Cormier H et al.	2014	Genes & nutrition
26746237	Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children.	Gomez-Sanchez CI et al.	2016	Behavioral and brain functions
26912491	Maternal single nucleotide polymorphisms in the fatty acid desaturase 1 and 2 coding regions modify the impact of prenatal supplementation with DHA on birth weight.	Gonzalez-Casanova I et al.	2016	The American journal of clinical nutrition
28259851	Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI).	Tanjung C et al.	2017	BMJ open
28552045	Erythrocyte polyunsaturated fatty acid composition is associated with depression and FADS genotype in Caucasians.	Cribb L et al.	2018	Nutritional neuroscience
28555039	FADS Gene Polymorphisms, Fatty Acid Desaturase Activities, and HDL-C in Type 2 Diabetes.	Huang MC et al.	2017	International journal of environmental research and public health
28871191	Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.	Gomez-Sanchez CI et al.	2017	Scientific reports
34749668	Effect of n-3 polyunsaturated fatty acids on ischemic heart disease and cardiometabolic risk factors: a two-sample Mendelian randomization study.	Xu B et al.	2021	BMC cardiovascular disorders

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs498793