Name: rs1439816
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.

rs1439816

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:189579904 (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>A / C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.317330 (83994/264690, TOPMED)
C=0.203297 (50988/250806, GnomAD_exome)
C=0.303601 (42512/140026, GnomAD) (+ 24 more)
C=0.212846 (25705/120768, ExAC)
C=0.14234 (4022/28256, 14KJPN)
C=0.21995 (5944/27024, ALFA)
C=0.13896 (2329/16760, 8.3KJPN)
C=0.30978 (4029/13006, GO-ESP)
C=0.3506 (2245/6404, 1000G_30x)
C=0.3405 (1705/5008, 1000G)
C=0.1310 (587/4480, Estonian)
C=0.1578 (608/3854, ALSPAC)
C=0.1489 (552/3708, TWINSUK)
C=0.1119 (328/2930, KOREAN)
C=0.3874 (733/1892, HapMap)
C=0.1239 (227/1832, Korea1K)
C=0.2157 (245/1136, Daghestan)
C=0.146 (146/998, GoNL)
C=0.192 (117/608, Vietnamese)
C=0.203 (122/600, NorthernSweden)
C=0.163 (87/534, MGP)
C=0.378 (185/490, PharmGKB)
C=0.196 (93/474, SGDP_PRJ)
C=0.135 (41/304, FINRISK)
C=0.352 (76/216, Qatari)
C=0.13 (7/54, Siberian)
C=0.17 (7/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC40A1 : Intron Variant
Publications: 3 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	27024	C=0.21995	A=0.00000, G=0.78005
European	Sub	19760	C=0.15784	A=0.00000, G=0.84216
African	Sub	3268	C=0.6034	A=0.0000, G=0.3966
African Others	Sub	112	C=0.786	A=0.000, G=0.214
African American	Sub	3156	C=0.5970	A=0.0000, G=0.4030
Asian	Sub	168	C=0.185	A=0.000, G=0.815
East Asian	Sub	112	C=0.179	A=0.000, G=0.821
Other Asian	Sub	56	C=0.20	A=0.00, G=0.80
Latin American 1	Sub	146	C=0.329	A=0.000, G=0.671
Latin American 2	Sub	610	C=0.190	A=0.000, G=0.810
South Asian	Sub	98	C=0.21	A=0.00, G=0.79
Other	Sub	2974	C=0.2142	A=0.0000, G=0.7858

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=0.317330	G=0.682670
gnomAD - Exomes	Global	Study-wide	250806	C=0.203297	G=0.796703
gnomAD - Exomes	European	Sub	135012	C=0.148335	G=0.851665
gnomAD - Exomes	Asian	Sub	48926	C=0.21992	G=0.78008
gnomAD - Exomes	American	Sub	34508	C=0.19106	G=0.80894
gnomAD - Exomes	African	Sub	16180	C=0.64512	G=0.35488
gnomAD - Exomes	Ashkenazi Jewish	Sub	10062	C=0.18962	G=0.81038
gnomAD - Exomes	Other	Sub	6118	C=0.2063	G=0.7937
gnomAD - Genomes	Global	Study-wide	140026	C=0.303601	G=0.696399
gnomAD - Genomes	European	Sub	75906	C=0.14656	G=0.85344
gnomAD - Genomes	African	Sub	41882	C=0.63127	G=0.36873
gnomAD - Genomes	American	Sub	13636	C=0.23607	G=0.76393
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.1808	G=0.8192
gnomAD - Genomes	East Asian	Sub	3130	C=0.1585	G=0.8415
gnomAD - Genomes	Other	Sub	2148	C=0.2942	G=0.7058
ExAC	Global	Study-wide	120768	C=0.212846	G=0.787154
ExAC	Europe	Sub	73002	C=0.15474	G=0.84526
ExAC	Asian	Sub	25070	C=0.21966	G=0.78034
ExAC	American	Sub	11484	C=0.18147	G=0.81853
ExAC	African	Sub	10308	C=0.64416	G=0.35584
ExAC	Other	Sub	904	C=0.197	G=0.803
14KJPN	JAPANESE	Study-wide	28256	C=0.14234	G=0.85766
Allele Frequency Aggregator	Total	Global	27024	C=0.21995	A=0.00000, G=0.78005
Allele Frequency Aggregator	European	Sub	19760	C=0.15784	A=0.00000, G=0.84216
Allele Frequency Aggregator	African	Sub	3268	C=0.6034	A=0.0000, G=0.3966
Allele Frequency Aggregator	Other	Sub	2974	C=0.2142	A=0.0000, G=0.7858
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.190	A=0.000, G=0.810
Allele Frequency Aggregator	Asian	Sub	168	C=0.185	A=0.000, G=0.815
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.329	A=0.000, G=0.671
Allele Frequency Aggregator	South Asian	Sub	98	C=0.21	A=0.00, G=0.79
8.3KJPN	JAPANESE	Study-wide	16760	C=0.13896	G=0.86104
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.30978	G=0.69022
GO Exome Sequencing Project	European American	Sub	8600	C=0.1485	G=0.8515
GO Exome Sequencing Project	African American	Sub	4406	C=0.6246	G=0.3754
1000Genomes_30x	Global	Study-wide	6404	C=0.3506	G=0.6494
1000Genomes_30x	African	Sub	1786	C=0.7284	G=0.2716
1000Genomes_30x	Europe	Sub	1266	C=0.1730	G=0.8270
1000Genomes_30x	South Asian	Sub	1202	C=0.2421	G=0.7579
1000Genomes_30x	East Asian	Sub	1170	C=0.1821	G=0.8179
1000Genomes_30x	American	Sub	980	C=0.226	G=0.774
1000Genomes	Global	Study-wide	5008	C=0.3405	G=0.6595
1000Genomes	African	Sub	1322	C=0.7284	G=0.2716
1000Genomes	East Asian	Sub	1008	C=0.1806	G=0.8194
1000Genomes	Europe	Sub	1006	C=0.1610	G=0.8390
1000Genomes	South Asian	Sub	978	C=0.247	G=0.753
1000Genomes	American	Sub	694	C=0.225	G=0.775
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.1310	G=0.8690
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.1578	G=0.8422
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.1489	G=0.8511
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1119	G=0.8881
HapMap	Global	Study-wide	1892	C=0.3874	G=0.6126
HapMap	American	Sub	770	C=0.240	G=0.760
HapMap	African	Sub	692	C=0.695	G=0.305
HapMap	Asian	Sub	254	C=0.138	G=0.862
HapMap	Europe	Sub	176	C=0.182	G=0.818
Korean Genome Project	KOREAN	Study-wide	1832	C=0.1239	G=0.8761
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.2157	G=0.7843
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.256	G=0.744
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.201	G=0.799
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.139	G=0.861
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.148	G=0.852
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.14	G=0.86
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.22	G=0.78
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.146	G=0.854
A Vietnamese Genetic Variation Database	Global	Study-wide	608	C=0.192	G=0.808
Northern Sweden	ACPOP	Study-wide	600	C=0.203	G=0.797
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.163	G=0.837
PharmGKB Aggregated	Global	Study-wide	490	C=0.378	G=0.622
PharmGKB Aggregated	PA130045333	Sub	490	C=0.378	G=0.622
SGDP_PRJ	Global	Study-wide	474	C=0.196	G=0.804
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.135	G=0.865
Qatari	Global	Study-wide	216	C=0.352	G=0.648
Siberian	Global	Study-wide	54	C=0.13	G=0.87
The Danish reference pan genome	Danish	Study-wide	40	C=0.17	G=0.82

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 2	NC_000002.12:g.189579904C>A
GRCh38.p14 chr 2	NC_000002.12:g.189579904C>G
GRCh37.p13 chr 2	NC_000002.11:g.190444630C>A
GRCh37.p13 chr 2	NC_000002.11:g.190444630C>G
SLC40A1 RefSeqGene (LRG_837)	NG_009027.1:g.5908G>T
SLC40A1 RefSeqGene (LRG_837)	NG_009027.1:g.5908G>C

Gene: SLC40A1, solute carrier family 40 member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC40A1 transcript	NM_014585.6:c.44-24G>T	N/A	Intron Variant
SLC40A1 transcript variant X1	XM_047444066.1:c.	N/A	Genic Upstream 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.

Allele: G (allele ID: 1153922 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001513669.6	Hemochromatosis type 4	Benign
RCV001538483.2	not provided	Benign

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=	A	G
GRCh38.p14 chr 2	NC_000002.12:g.189579904=	NC_000002.12:g.189579904C>A	NC_000002.12:g.189579904C>G
GRCh37.p13 chr 2	NC_000002.11:g.190444630=	NC_000002.11:g.190444630C>A	NC_000002.11:g.190444630C>G
SLC40A1 RefSeqGene (LRG_837)	NG_009027.1:g.5908=	NG_009027.1:g.5908G>T	NG_009027.1:g.5908G>C
SLC40A1 transcript	NM_014585.5:c.44-24=	NM_014585.5:c.44-24G>T	NM_014585.5:c.44-24G>C
SLC40A1 transcript	NM_014585.6:c.44-24=	NM_014585.6:c.44-24G>T	NM_014585.6:c.44-24G>C
SLC40A1 transcript variant X1	XM_005246504.1:c.176-24=	XM_005246504.1:c.176-24G>T	XM_005246504.1:c.176-24G>C
SLC40A1 transcript variant X1	XM_005246505.1:c.-212-24=	XM_005246505.1:c.-212-24G>T	XM_005246505.1:c.-212-24G>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#.

112 SubSNP, 27 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2251530	Oct 23, 2000 (88)
2	TSC-CSHL	ss5175942	Oct 08, 2002 (108)
3	SC_JCM	ss5876799	Feb 20, 2003 (111)
4	SSAHASNP	ss21640967	Apr 05, 2004 (121)
5	ABI	ss44284729	Mar 13, 2006 (126)
6	ILLUMINA	ss65764366	Oct 14, 2006 (127)
7	AFFY	ss66196562	Nov 29, 2006 (127)
8	PHARMGKB_PMT	ss69369761	May 16, 2007 (127)
9	AFFY	ss76279426	Dec 07, 2007 (129)
10	HGSV	ss81156396	Dec 15, 2007 (130)
11	KRIBB_YJKIM	ss81483692	Dec 14, 2007 (130)
12	HGSV	ss84305203	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss91485502	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss96457726	Feb 05, 2009 (130)
15	BGI	ss106149151	Feb 05, 2009 (130)
16	1000GENOMES	ss110472007	Jan 24, 2009 (130)
17	ILLUMINA-UK	ss118015816	Feb 14, 2009 (130)
18	ENSEMBL	ss136025977	Dec 01, 2009 (131)
19	ENSEMBL	ss138599565	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss165755493	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss167495187	Jul 04, 2010 (132)
22	AFFY	ss173102872	Jun 24, 2010 (142)
23	BUSHMAN	ss201521506	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss205818120	Jul 04, 2010 (132)
25	1000GENOMES	ss211059455	Jul 14, 2010 (132)
26	1000GENOMES	ss219718356	Jul 14, 2010 (132)
27	1000GENOMES	ss231519222	Jul 14, 2010 (132)
28	1000GENOMES	ss238995913	Jul 15, 2010 (132)
29	BL	ss253765912	May 09, 2011 (134)
30	GMI	ss276834928	May 04, 2012 (137)
31	GMI	ss284508426	Apr 25, 2013 (138)
32	PJP	ss292447732	May 09, 2011 (134)
33	ILLUMINA	ss410906657	Sep 17, 2011 (135)
34	1000GENOMES	ss489844430	May 04, 2012 (137)
35	CLINSEQ_SNP	ss491796994	May 04, 2012 (137)
36	ILLUMINA	ss533924614	Sep 08, 2015 (146)
37	TISHKOFF	ss556110795	Apr 25, 2013 (138)
38	SSMP	ss649773506	Apr 25, 2013 (138)
39	NHLBI-ESP	ss712472243	Apr 25, 2013 (138)
40	JMKIDD_LAB	ss974444987	Aug 21, 2014 (142)
41	EVA-GONL	ss977774521	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1067443633	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1069801712	Aug 21, 2014 (142)
44	1000GENOMES	ss1300917507	Aug 21, 2014 (142)
45	HAMMER_LAB	ss1397315454	Sep 08, 2015 (146)
46	DDI	ss1428857955	Apr 01, 2015 (144)
47	EVA_GENOME_DK	ss1579251357	Apr 01, 2015 (144)
48	EVA_FINRISK	ss1584022833	Apr 01, 2015 (144)
49	EVA_UK10K_ALSPAC	ss1605409474	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1648403507	Apr 01, 2015 (144)
51	EVA_EXAC	ss1686654966	Apr 01, 2015 (144)
52	EVA_MGP	ss1710990956	Apr 01, 2015 (144)
53	EVA_SVP	ss1712518111	Apr 01, 2015 (144)
54	HAMMER_LAB	ss1798089298	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1921022387	Feb 12, 2016 (147)
56	GENOMED	ss1968982056	Jul 19, 2016 (147)
57	JJLAB	ss2021052414	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2149117166	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2237608730	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2625029156	Nov 08, 2017 (151)
61	GRF	ss2703759666	Nov 08, 2017 (151)
62	GNOMAD	ss2733206428	Nov 08, 2017 (151)
63	GNOMAD	ss2746843189	Nov 08, 2017 (151)
64	GNOMAD	ss2784223543	Nov 08, 2017 (151)
65	SWEGEN	ss2991065153	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3024287010	Nov 08, 2017 (151)
67	CSHL	ss3344663392	Nov 08, 2017 (151)
68	ILLUMINA	ss3628247977	Oct 11, 2018 (152)
69	OMUKHERJEE_ADBS	ss3646276336	Oct 11, 2018 (152)
70	URBANLAB	ss3647234549	Oct 11, 2018 (152)
71	EGCUT_WGS	ss3658947419	Jul 13, 2019 (153)
72	EVA_DECODE	ss3705665682	Jul 13, 2019 (153)
73	ACPOP	ss3729217140	Jul 13, 2019 (153)
74	EVA	ss3757869751	Jul 13, 2019 (153)
75	PACBIO	ss3784101398	Jul 13, 2019 (153)
76	PACBIO	ss3789647838	Jul 13, 2019 (153)
77	PACBIO	ss3794520974	Jul 13, 2019 (153)
78	KHV_HUMAN_GENOMES	ss3802227915	Jul 13, 2019 (153)
79	EVA	ss3823838521	Apr 25, 2020 (154)
80	EVA	ss3825615360	Apr 25, 2020 (154)
81	EVA	ss3827416210	Apr 25, 2020 (154)
82	EVA	ss3837127682	Apr 25, 2020 (154)
83	EVA	ss3842548384	Apr 25, 2020 (154)
84	SGDP_PRJ	ss3854225611	Apr 25, 2020 (154)
85	KRGDB	ss3899891443	Apr 25, 2020 (154)
86	KOGIC	ss3949731160	Apr 25, 2020 (154)
87	FSA-LAB	ss3984197215	Apr 26, 2021 (155)
88	FSA-LAB	ss3984197216	Apr 26, 2021 (155)
89	EVA	ss3986208442	Apr 26, 2021 (155)
90	TOPMED	ss4538109866	Apr 26, 2021 (155)
91	TOMMO_GENOMICS	ss5155669747	Apr 26, 2021 (155)
92	EVA	ss5237172921	Apr 26, 2021 (155)
93	1000G_HIGH_COVERAGE	ss5251394504	Oct 12, 2022 (156)
94	TRAN_CS_UWATERLOO	ss5314404113	Oct 12, 2022 (156)
95	EVA	ss5334873408	Oct 12, 2022 (156)
96	HUGCELL_USP	ss5451073648	Oct 12, 2022 (156)
97	1000G_HIGH_COVERAGE	ss5528409325	Oct 12, 2022 (156)
98	EVA	ss5623922947	Oct 12, 2022 (156)
99	EVA	ss5624106531	Oct 12, 2022 (156)
100	SANFORD_IMAGENETICS	ss5630595873	Oct 12, 2022 (156)
101	TOMMO_GENOMICS	ss5686309767	Oct 12, 2022 (156)
102	EVA	ss5800049648	Oct 12, 2022 (156)
103	EVA	ss5800100404	Oct 12, 2022 (156)
104	YY_MCH	ss5803072402	Oct 12, 2022 (156)
105	EVA	ss5821346691	Oct 12, 2022 (156)
106	EVA	ss5848530957	Oct 12, 2022 (156)
107	EVA	ss5852882674	Oct 12, 2022 (156)
108	EVA	ss5933974000	Oct 12, 2022 (156)
109	EVA	ss5936518573	Oct 12, 2022 (156)
110	EVA	ss5956836641	Oct 12, 2022 (156)
111	EVA	ss5980102035	Oct 12, 2022 (156)
112	EVA	ss5981209782	Oct 12, 2022 (156)
113	1000Genomes	NC_000002.11 - 190444630	Oct 11, 2018 (152)
114	1000Genomes_30x	NC_000002.12 - 189579904	Oct 12, 2022 (156)
115	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 190444630	Oct 11, 2018 (152)
116	Genome-wide autozygosity in Daghestan	NC_000002.10 - 190152875	Apr 25, 2020 (154)
117	Genetic variation in the Estonian population	NC_000002.11 - 190444630	Oct 11, 2018 (152)
118	ExAC	NC_000002.11 - 190444630	Oct 11, 2018 (152)
119	FINRISK	NC_000002.11 - 190444630	Apr 25, 2020 (154)
120	The Danish reference pan genome	NC_000002.11 - 190444630	Apr 25, 2020 (154)
121	gnomAD - Genomes	NC_000002.12 - 189579904	Apr 26, 2021 (155)
122	gnomAD - Exomes	NC_000002.11 - 190444630	Jul 13, 2019 (153)
123	GO Exome Sequencing Project	NC_000002.11 - 190444630	Oct 11, 2018 (152)
124	Genome of the Netherlands Release 5	NC_000002.11 - 190444630	Apr 25, 2020 (154)
125	HapMap	NC_000002.12 - 189579904	Apr 25, 2020 (154)
126	KOREAN population from KRGDB	NC_000002.11 - 190444630	Apr 25, 2020 (154)
127	Korean Genome Project	NC_000002.12 - 189579904	Apr 25, 2020 (154)
128	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 190444630	Apr 25, 2020 (154)
129	Northern Sweden	NC_000002.11 - 190444630	Jul 13, 2019 (153)
130	PharmGKB Aggregated	NC_000002.12 - 189579904	Apr 25, 2020 (154)
131	Qatari	NC_000002.11 - 190444630	Apr 25, 2020 (154)
132	SGDP_PRJ	NC_000002.11 - 190444630	Apr 25, 2020 (154)
133	Siberian	NC_000002.11 - 190444630	Apr 25, 2020 (154)
134	8.3KJPN	NC_000002.11 - 190444630	Apr 26, 2021 (155)
135	14KJPN	NC_000002.12 - 189579904	Oct 12, 2022 (156)
136	TopMed	NC_000002.12 - 189579904	Apr 26, 2021 (155)
137	UK 10K study - Twins	NC_000002.11 - 190444630	Oct 11, 2018 (152)
138	A Vietnamese Genetic Variation Database	NC_000002.11 - 190444630	Jul 13, 2019 (153)
139	ALFA	NC_000002.12 - 189579904	Apr 26, 2021 (155)
140	ClinVar	RCV001513669.6	Oct 12, 2022 (156)
141	ClinVar	RCV001538483.2	Oct 12, 2022 (156)

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)
rs57322255	Feb 26, 2009 (130)
rs58920448	May 25, 2008 (130)
rs111190143	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
9932014185	NC_000002.12:189579903:C:A	NC_000002.12:189579903:C:A	(self)
ss81156396, ss84305203	NC_000002.9:190270135:C:G	NC_000002.12:189579903:C:G	(self)
265291, ss66196562, ss76279426, ss91485502, ss110472007, ss118015816, ss165755493, ss167495187, ss173102872, ss201521506, ss205818120, ss211059455, ss253765912, ss276834928, ss284508426, ss292447732, ss410906657, ss491796994, ss1397315454, ss1712518111	NC_000002.10:190152874:C:G	NC_000002.12:189579903:C:G	(self)
11994390, 6627313, 4685667, 6552893, 19294, 5416296, 2268683, 296947, 2911690, 7068837, 107495, 2502005, 3064317, 6242591, 1633520, 13639054, 6627313, 1444918, ss219718356, ss231519222, ss238995913, ss489844430, ss533924614, ss556110795, ss649773506, ss712472243, ss974444987, ss977774521, ss1067443633, ss1069801712, ss1300917507, ss1428857955, ss1579251357, ss1584022833, ss1605409474, ss1648403507, ss1686654966, ss1710990956, ss1798089298, ss1921022387, ss1968982056, ss2021052414, ss2149117166, ss2625029156, ss2703759666, ss2733206428, ss2746843189, ss2784223543, ss2991065153, ss3344663392, ss3628247977, ss3646276336, ss3658947419, ss3729217140, ss3757869751, ss3784101398, ss3789647838, ss3794520974, ss3823838521, ss3825615360, ss3827416210, ss3837127682, ss3854225611, ss3899891443, ss3984197215, ss3984197216, ss3986208442, ss5155669747, ss5334873408, ss5623922947, ss5624106531, ss5630595873, ss5800049648, ss5800100404, ss5821346691, ss5848530957, ss5936518573, ss5956836641, ss5980102035, ss5981209782	NC_000002.11:190444629:C:G	NC_000002.12:189579903:C:G	(self)
RCV001513669.6, RCV001538483.2, 15935260, 85484992, 1974987, 6109161, 6547, 20146871, 341932745, 9932014185, ss2237608730, ss3024287010, ss3647234549, ss3705665682, ss3802227915, ss3842548384, ss3949731160, ss4538109866, ss5237172921, ss5251394504, ss5314404113, ss5451073648, ss5528409325, ss5686309767, ss5803072402, ss5852882674, ss5933974000	NC_000002.12:189579903:C:G	NC_000002.12:189579903:C:G	(self)
ss21640967	NT_005403.14:40654045:C:G	NC_000002.12:189579903:C:G	(self)
ss2251530, ss5175942, ss5876799, ss44284729, ss65764366, ss69369761, ss81483692, ss96457726, ss106149151, ss136025977, ss138599565	NT_005403.17:40654047:C:G	NC_000002.12:189579903:C:G	(self)

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

3 citations for rs1439816

PMID	Title	Author	Year	Journal
23386860	Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.	Pasquale LR et al.	2013	Frontiers in genetics
25976471	Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.	Radio FC et al.	2015	Blood cells, molecules & diseases
31483113	GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.	Walther B et al.	2019	Molecular nutrition & food research

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

rs1439816