Name: rs2272783
Published: September 3, 2024
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.

rs2272783

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr18:57571588 (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=0.0670674 (93979/1401262, GnomAD_exomes)
G=0.075696 (20036/264690, TOPMED)
G=0.059684 (10153/170112, ALFA) (+ 24 more)
G=0.068280 (10187/149194, GnomAD_genomes)
G=0.107296 (12974/120918, ExAC)
G=0.44653 (34581/77444, 38KJPN)
G=0.03737 (486/13006, GO-ESP)
G=0.3793 (2743/7232, Korea4K)
G=0.1340 (858/6404, 1000G_30X)
G=0.1374 (688/5008, 1000G)
G=0.0761 (341/4480, Estonian)
G=0.0407 (157/3854, ALSPAC)
G=0.0494 (183/3708, TWINSUK)
G=0.3829 (1122/2930, KOREAN)
G=0.1243 (235/1890, HapMap)
G=0.3930 (720/1832, Korea1K)
G=0.047 (47/998, GoNL)
G=0.327 (254/776, PRJEB37584)
G=0.150 (94/626, Chileans)
G=0.042 (25/600, NorthernSweden)
G=0.037 (20/534, MGP)
G=0.076 (23/304, FINRISK)
G=0.037 (8/216, Qatari)
A=0.399 (55/138, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)
G=0.00 (0/26, Ancient Sardinia)
A=0.46 (11/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: FECH : Intron Variant
Publications: 7 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	170112	A=0.940316	G=0.059684, T=0.000000	0.888403	0.007771	0.103826	32
European	Sub	141966	A=0.954891	G=0.045109, T=0.000000	0.91188	0.002099	0.086021	0
African	Sub	8354	A=0.9816	G=0.0184, T=0.0000	0.963131	0.0	0.036869	1
African Others	Sub	262	A=0.992	G=0.008, T=0.000	0.984733	0.0	0.015267	0
African American	Sub	8092	A=0.9812	G=0.0188, T=0.0000	0.962432	0.0	0.037568	1
Asian	Sub	734	A=0.717	G=0.283, T=0.000	0.523161	0.089918	0.386921	1
East Asian	Sub	540	A=0.689	G=0.311, T=0.000	0.481481	0.103704	0.414815	0
Other Asian	Sub	194	A=0.794	G=0.206, T=0.000	0.639175	0.051546	0.309278	0
Latin American 1	Sub	896	A=0.938	G=0.062, T=0.000	0.881696	0.006696	0.111607	1
Latin American 2	Sub	8486	A=0.7043	G=0.2957, T=0.0000	0.508367	0.099694	0.39194	9
South Asian	Sub	196	A=0.903	G=0.097, T=0.000	0.806122	0.0	0.193878	1
Other	Sub	9480	A=0.9153	G=0.0847, T=0.0000	0.841772	0.011181	0.147046	7

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
gnomAD v4 - Exomes	Global	Study-wide	1401262	A=0.9329326	G=0.0670674
gnomAD v4 - Exomes	European	Sub	1165236	A=0.9536257	G=0.0463743
gnomAD v4 - Exomes	South Asian	Sub	86244	A=0.91129	G=0.08871
gnomAD v4 - Exomes	American	Sub	44712	A=0.67711	G=0.32289
gnomAD v4 - Exomes	East Asian	Sub	39694	A=0.61357	G=0.38643
gnomAD v4 - Exomes	African	Sub	33478	A=0.98432	G=0.01568
gnomAD v4 - Exomes	Ashkenazi Jewish	Sub	26134	A=0.93530	G=0.06470
gnomAD v4 - Exomes	Middle Eastern	sub	5764	A=0.9481	G=0.0519
TopMed	Global	Study-wide	264690	A=0.924304	G=0.075696
Allele Frequency Aggregator	Total	Global	170112	A=0.940316	G=0.059684, T=0.000000
Allele Frequency Aggregator	European	Sub	141966	A=0.954891	G=0.045109, T=0.000000
Allele Frequency Aggregator	Other	Sub	9480	A=0.9153	G=0.0847, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	8486	A=0.7043	G=0.2957, T=0.0000
Allele Frequency Aggregator	African	Sub	8354	A=0.9816	G=0.0184, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	896	A=0.938	G=0.062, T=0.000
Allele Frequency Aggregator	Asian	Sub	734	A=0.717	G=0.283, T=0.000
Allele Frequency Aggregator	South Asian	Sub	196	A=0.903	G=0.097, T=0.000
gnomAD v4 - Genomes	Global	Study-wide	149194	A=0.931720	G=0.068280
gnomAD v4 - Genomes	European	Sub	78582	A=0.94704	G=0.05296
gnomAD v4 - Genomes	African	Sub	41570	A=0.98100	G=0.01900
gnomAD v4 - Genomes	American	Sub	15296	A=0.81747	G=0.18253
gnomAD v4 - Genomes	East Asian	Sub	5162	A=0.6629	G=0.3371
gnomAD v4 - Genomes	South Asian	Sub	4822	A=0.9040	G=0.0960
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3468	A=0.9357	G=0.0643
gnomAD v4 - Genomes	Middle Eastern	sub	294	A=0.942	G=0.058
ExAC	Global	Study-wide	120918	A=0.892704	G=0.107296
ExAC	Europe	Sub	73148	A=0.94455	G=0.05545
ExAC	Asian	Sub	25066	A=0.82837	G=0.17163
ExAC	American	Sub	11530	A=0.62446	G=0.37554
ExAC	African	Sub	10266	A=0.97993	G=0.02007
ExAC	Other	Sub	908	A=0.912	G=0.088
38KJPN	JAPANESE	Study-wide	77444	A=0.55347	G=0.44653
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.96263	G=0.03737
GO Exome Sequencing Project	European American	Sub	8600	A=0.9545	G=0.0455
GO Exome Sequencing Project	African American	Sub	4406	A=0.9784	G=0.0216
Korean Genome Project 4K	KOREAN	Study-wide	7232	A=0.6207	G=0.3793
1000Genomes_30X	Global	Study-wide	6404	A=0.8660	G=0.1340
1000Genomes_30X	African	Sub	1786	A=0.9916	G=0.0084
1000Genomes_30X	Europe	Sub	1266	A=0.9494	G=0.0506
1000Genomes_30X	South Asian	Sub	1202	A=0.8943	G=0.1057
1000Genomes_30X	East Asian	Sub	1170	A=0.6684	G=0.3316
1000Genomes_30X	American	Sub	980	A=0.731	G=0.269
1000Genomes	Global	Study-wide	5008	A=0.8626	G=0.1374
1000Genomes	African	Sub	1322	A=0.9894	G=0.0106
1000Genomes	East Asian	Sub	1008	A=0.6706	G=0.3294
1000Genomes	Europe	Sub	1006	A=0.9493	G=0.0507
1000Genomes	South Asian	Sub	978	A=0.889	G=0.111
1000Genomes	American	Sub	694	A=0.738	G=0.262
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9239	G=0.0761
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9593	G=0.0407
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9506	G=0.0494
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6171	C=0.0000, G=0.3829
HapMap	Global	Study-wide	1890	A=0.8757	G=0.1243
HapMap	American	Sub	768	A=0.849	G=0.151
HapMap	African	Sub	692	A=0.981	G=0.019
HapMap	Asian	Sub	254	A=0.602	G=0.398
HapMap	Europe	Sub	176	A=0.972	G=0.028
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6070	G=0.3930
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.953	G=0.047
CNV burdens in cranial meningiomas	Global	Study-wide	776	A=0.673	G=0.327
CNV burdens in cranial meningiomas	CRM	Sub	776	A=0.673	G=0.327
Chileans	Chilean	Study-wide	626	A=0.850	G=0.150
Northern Sweden	ACPOP	Study-wide	600	A=0.958	G=0.042
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.963	G=0.037
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.924	G=0.076
Qatari	Global	Study-wide	216	A=0.963	G=0.037
SGDP_PRJ	Global	Study-wide	138	A=0.399	G=0.601
The Danish reference pan genome	Danish	Study-wide	40	A=0.97	G=0.03
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	26	A=1.00	G=0.00
Siberian	Global	Study-wide	24	A=0.46	G=0.54

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 18	NC_000018.10:g.57571588A>C
GRCh38.p14 chr 18	NC_000018.10:g.57571588A>G
GRCh38.p14 chr 18	NC_000018.10:g.57571588A>T
GRCh37.p13 chr 18	NC_000018.9:g.55238820A>C
GRCh37.p13 chr 18	NC_000018.9:g.55238820A>G
GRCh37.p13 chr 18	NC_000018.9:g.55238820A>T
FECH RefSeqGene (LRG_1080)	NG_008175.1:g.20150T>G
FECH RefSeqGene (LRG_1080)	NG_008175.1:g.20150T>C
FECH RefSeqGene (LRG_1080)	NG_008175.1:g.20150T>A

Gene: FECH, ferrochelatase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FECH transcript variant 2	NM_000140.5:c.315-48T>G	N/A	Intron Variant
FECH transcript variant 1	NM_001012515.4:c.333-48T>G	N/A	Intron Variant
FECH transcript variant 3	NM_001371094.1:c.315-48T>G	N/A	Intron Variant
FECH transcript variant 4	NM_001371095.1:c.99-48T>G	N/A	Intron Variant
FECH transcript variant 5	NM_001374778.1:c.315-48T>G	N/A	Intron Variant
FECH transcript variant X1	XM_011525881.2:c.333-48T>G	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.

Allele: G (allele ID: 15601 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000000592.26	Protoporphyria, erythropoietic, 1	Conflicting-Interpretations-Of-Pathogenicity
RCV000414979.5	Erythema,Jaundice	No-Classifications-From-Unflagged-Records
RCV001195427.8	Autosomal erythropoietic protoporphyria	Pathogenic
RCV001381522.25	not provided	Pathogenic-Pathogenic-Low-Penetrance

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 18	NC_000018.10:g.57571588=	NC_000018.10:g.57571588A>C	NC_000018.10:g.57571588A>G	NC_000018.10:g.57571588A>T
GRCh37.p13 chr 18	NC_000018.9:g.55238820=	NC_000018.9:g.55238820A>C	NC_000018.9:g.55238820A>G	NC_000018.9:g.55238820A>T
FECH RefSeqGene (LRG_1080)	NG_008175.1:g.20150=	NG_008175.1:g.20150T>G	NG_008175.1:g.20150T>C	NG_008175.1:g.20150T>A
Protein-coding transcripts	NM_000140.3:c.315-48=	NM_000140.3:c.315-48T>G	NM_000140.3:c.315-48T>C	NM_000140.3:c.315-48T>A
FECH transcript variant 2	NM_000140.5:c.315-48=	NM_000140.5:c.315-48T>G	NM_000140.5:c.315-48T>C	NM_000140.5:c.315-48T>A
FECH transcript variant 1	NM_001012515.2:c.333-48=	NM_001012515.2:c.333-48T>G	NM_001012515.2:c.333-48T>C	NM_001012515.2:c.333-48T>A
FECH transcript variant 1	NM_001012515.4:c.333-48=	NM_001012515.4:c.333-48T>G	NM_001012515.4:c.333-48T>C	NM_001012515.4:c.333-48T>A
FECH transcript variant 3	NM_001371094.1:c.315-48=	NM_001371094.1:c.315-48T>G	NM_001371094.1:c.315-48T>C	NM_001371094.1:c.315-48T>A
FECH transcript variant 4	NM_001371095.1:c.99-48=	NM_001371095.1:c.99-48T>G	NM_001371095.1:c.99-48T>C	NM_001371095.1:c.99-48T>A
FECH transcript variant 5	NM_001374778.1:c.315-48=	NM_001374778.1:c.315-48T>G	NM_001374778.1:c.315-48T>C	NM_001374778.1:c.315-48T>A
FECH transcript variant X1	XM_011525881.2:c.333-48=	XM_011525881.2:c.333-48T>G	XM_011525881.2:c.333-48T>C	XM_011525881.2:c.333-48T>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#.

123 SubSNP, 27 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3208001	Sep 28, 2001 (100)
2	PERLEGEN	ss46554129	Mar 15, 2006 (126)
3	ILLUMINA	ss65758684	Oct 14, 2006 (127)
4	ILLUMINA	ss74864669	Dec 07, 2007 (129)
5	AFFY	ss76643273	Dec 07, 2007 (129)
6	BCMHGSC_JDW	ss90807630	Mar 24, 2008 (129)
7	BGI	ss106549175	Feb 04, 2009 (130)
8	KRIBB_YJKIM	ss119425710	Dec 01, 2009 (131)
9	ENSEMBL	ss137405385	Dec 01, 2009 (131)
10	GMI	ss155235936	Dec 01, 2009 (131)
11	ILLUMINA	ss160525370	Dec 01, 2009 (131)
12	ILLUMINA	ss173233376	Jul 04, 2010 (132)
13	1000GENOMES	ss237493747	Jul 15, 2010 (132)
14	1000GENOMES	ss243737172	Jul 15, 2010 (132)
15	GMI	ss283015890	May 04, 2012 (137)
16	ILLUMINA	ss480496823	May 04, 2012 (137)
17	ILLUMINA	ss480511166	May 04, 2012 (137)
18	ILLUMINA	ss481315718	Sep 08, 2015 (146)
19	ILLUMINA	ss485045912	May 04, 2012 (137)
20	1000GENOMES	ss491140633	May 04, 2012 (137)
21	ILLUMINA	ss537066223	Sep 08, 2015 (146)
22	GENEREVIEWS	ss539053073	Sep 28, 2012 (137)
23	SSMP	ss661519942	Apr 25, 2013 (138)
24	NHLBI-ESP	ss713447701	Apr 25, 2013 (138)
25	ILLUMINA	ss778488869	Aug 21, 2014 (142)
26	ILLUMINA	ss782969178	Sep 08, 2015 (146)
27	ILLUMINA	ss783930857	Aug 21, 2014 (142)
28	ILLUMINA	ss832225480	Sep 08, 2015 (146)
29	ILLUMINA	ss833944844	Aug 21, 2014 (142)
30	EVA-GONL	ss993801204	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1081554136	Aug 21, 2014 (142)
32	1000GENOMES	ss1361305933	Aug 21, 2014 (142)
33	DDI	ss1428239938	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1578433470	Apr 01, 2015 (144)
35	EVA_FINRISK	ss1584111266	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1637029067	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1680023100	Apr 01, 2015 (144)
38	EVA_EXAC	ss1693161020	Apr 01, 2015 (144)
39	EVA_DECODE	ss1697863397	Apr 01, 2015 (144)
40	EVA_MGP	ss1711487262	Apr 01, 2015 (144)
41	EVA_SVP	ss1713631403	Apr 01, 2015 (144)
42	ILLUMINA	ss1752260918	Sep 08, 2015 (146)
43	WEILL_CORNELL_DGM	ss1937269085	Feb 12, 2016 (147)
44	GENOMED	ss1968540354	Jul 19, 2016 (147)
45	JJLAB	ss2029404602	Sep 14, 2016 (149)
46	USC_VALOUEV	ss2157911563	Dec 20, 2016 (150)
47	HUMAN_LONGEVITY	ss2222159297	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2629199890	Nov 08, 2017 (151)
49	ILLUMINA	ss2633481474	Nov 08, 2017 (151)
50	GRF	ss2702502776	Nov 08, 2017 (151)
51	GNOMAD	ss2743314046	Nov 08, 2017 (151)
52	GNOMAD	ss2749963861	Nov 08, 2017 (151)
53	GNOMAD	ss2957480814	Nov 08, 2017 (151)
54	AFFY	ss2985119524	Nov 08, 2017 (151)
55	AFFY	ss2985757378	Nov 08, 2017 (151)
56	SWEGEN	ss3016640089	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3028531522	Nov 08, 2017 (151)
58	CSHL	ss3352055363	Nov 08, 2017 (151)
59	ILLUMINA	ss3627824885	Oct 12, 2018 (152)
60	ILLUMINA	ss3631457673	Oct 12, 2018 (152)
61	ILLUMINA	ss3633164936	Oct 12, 2018 (152)
62	ILLUMINA	ss3633873812	Oct 12, 2018 (152)
63	ILLUMINA	ss3634708931	Oct 12, 2018 (152)
64	ILLUMINA	ss3635561049	Oct 12, 2018 (152)
65	ILLUMINA	ss3636398469	Oct 12, 2018 (152)
66	ILLUMINA	ss3637312667	Oct 12, 2018 (152)
67	ILLUMINA	ss3638199982	Oct 12, 2018 (152)
68	ILLUMINA	ss3640416239	Oct 12, 2018 (152)
69	ILLUMINA	ss3643175426	Oct 12, 2018 (152)
70	OMUKHERJEE_ADBS	ss3646523968	Oct 12, 2018 (152)
71	ILLUMINA	ss3653891635	Oct 12, 2018 (152)
72	EGCUT_WGS	ss3683486955	Jul 13, 2019 (153)
73	EVA_DECODE	ss3701797555	Jul 13, 2019 (153)
74	ILLUMINA	ss3725681892	Jul 13, 2019 (153)
75	ACPOP	ss3742604341	Jul 13, 2019 (153)
76	ILLUMINA	ss3745009064	Jul 13, 2019 (153)
77	EVA	ss3755478210	Jul 13, 2019 (153)
78	ILLUMINA	ss3772506531	Jul 13, 2019 (153)
79	KHV_HUMAN_GENOMES	ss3820733623	Jul 13, 2019 (153)
80	EVA	ss3825194925	Apr 27, 2020 (154)
81	EVA	ss3825916608	Apr 27, 2020 (154)
82	EVA	ss3835204918	Apr 27, 2020 (154)
83	SGDP_PRJ	ss3887162425	Apr 27, 2020 (154)
84	KRGDB	ss3937051227	Apr 27, 2020 (154)
85	KOGIC	ss3980281448	Apr 27, 2020 (154)
86	FSA-LAB	ss3984133669	Apr 27, 2021 (155)
87	EVA	ss3984733881	Apr 27, 2021 (155)
88	EVA	ss3985830581	Apr 27, 2021 (155)
89	EVA	ss3986759593	Apr 27, 2021 (155)
90	EVA	ss4017801767	Apr 27, 2021 (155)
91	TOMMO_GENOMICS	ss6178250428	Nov 01, 2024 (157)
92	EVA	ss6276427526	Nov 01, 2024 (157)
93	EVA	ss6318683762	Nov 01, 2024 (157)
94	EVA	ss6322038333	Nov 01, 2024 (157)
95	EVA	ss6322606159	Nov 01, 2024 (157)
96	EVA	ss6333401754	Nov 01, 2024 (157)
97	YEGNASUBRAMANIAN_LAB	ss6347572319	Nov 01, 2024 (157)
98	KOGIC	ss6397328635	Nov 01, 2024 (157)
99	EVA	ss6404192647	Nov 01, 2024 (157)
100	EVA	ss6404692224	Nov 01, 2024 (157)
101	GNOMAD	ss6463384875	Nov 01, 2024 (157)
102	TOPMED	ss8059206801	Nov 01, 2024 (157)
103	TOMMO_GENOMICS	ss8225485672	Nov 01, 2024 (157)
104	1000G_HIGH_COVERAGE	ss8305535475	Nov 01, 2024 (157)
105	EVA	ss8315938315	Nov 01, 2024 (157)
106	EVA	ss8431872336	Nov 01, 2024 (157)
107	HUGCELL_USP	ss8498279388	Nov 01, 2024 (157)
108	1000G_HIGH_COVERAGE	ss8610505614	Nov 01, 2024 (157)
109	SANFORD_IMAGENETICS	ss8661433051	Nov 01, 2024 (157)
110	TOMMO_GENOMICS	ss8783367321	Nov 01, 2024 (157)
111	EVA	ss8799995493	Nov 01, 2024 (157)
112	YY_MCH	ss8817159180	Nov 01, 2024 (157)
113	EVA	ss8827641336	Nov 01, 2024 (157)
114	EVA	ss8848469441	Nov 01, 2024 (157)
115	EVA	ss8852082456	Nov 01, 2024 (157)
116	EVA	ss8874367739	Nov 01, 2024 (157)
117	EVA	ss8952857318	Nov 01, 2024 (157)
118	EVA	ss8981306557	Nov 01, 2024 (157)
119	EVA	ss8981827647	Nov 01, 2024 (157)
120	EVA	ss8981827648	Nov 01, 2024 (157)
121	EVA	ss8982056685	Nov 01, 2024 (157)
122	LNCC-LABINFO	ss8982098639	Nov 01, 2024 (157)
123	GNOMAD	ss10037018507	Nov 01, 2024 (157)
124	1000Genomes	NC_000018.9 - 55238820	Oct 12, 2018 (152)
125	1000Genomes_30X	NC_000018.10 - 57571588	Nov 01, 2024 (157)
126	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 55238820	Oct 12, 2018 (152)
127	Chileans	NC_000018.9 - 55238820	Apr 27, 2020 (154)
128	Genetic variation in the Estonian population	NC_000018.9 - 55238820	Oct 12, 2018 (152)
129	ExAC	NC_000018.9 - 55238820	Oct 12, 2018 (152)
130	FINRISK	NC_000018.9 - 55238820	Apr 27, 2020 (154)
131	The Danish reference pan genome	NC_000018.9 - 55238820	Apr 27, 2020 (154)
132	gnomAD v4 - Exomes	NC_000018.10 - 57571588	Nov 01, 2024 (157)
133	gnomAD v4 - Genomes	NC_000018.10 - 57571588	Nov 01, 2024 (157)
134	GO Exome Sequencing Project	NC_000018.9 - 55238820	Oct 12, 2018 (152)
135	Genome of the Netherlands Release 5	NC_000018.9 - 55238820	Apr 27, 2020 (154)
136	HapMap	NC_000018.10 - 57571588	Apr 27, 2020 (154)
137	KOREAN population from KRGDB	NC_000018.9 - 55238820	Apr 27, 2020 (154)
138	Korean Genome Project	NC_000018.10 - 57571588	Apr 27, 2020 (154)
139	Korean Genome Project 4K	NC_000018.10 - 57571588	Nov 01, 2024 (157)
140	Medical Genome Project healthy controls from Spanish population	NC_000018.9 - 55238820	Apr 27, 2020 (154)
141	Northern Sweden	NC_000018.9 - 55238820	Jul 13, 2019 (153)
142	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000018.9 - 55238820	Apr 27, 2021 (155)
143	CNV burdens in cranial meningiomas	NC_000018.9 - 55238820	Apr 27, 2021 (155)
144	Qatari	NC_000018.9 - 55238820	Apr 27, 2020 (154)
145	SGDP_PRJ	NC_000018.9 - 55238820	Apr 27, 2020 (154)
146	Siberian	NC_000018.9 - 55238820	Apr 27, 2020 (154)
147	38KJPN	NC_000018.10 - 57571588	Nov 01, 2024 (157)
148	TopMed	NC_000018.10 - 57571588	Apr 27, 2021 (155)
149	UK 10K study - Twins	NC_000018.9 - 55238820	Oct 12, 2018 (152)
150	ALFA	NC_000018.10 - 57571588	Nov 01, 2024 (157)
151	ClinVar	RCV000000592.26	Nov 01, 2024 (157)
152	ClinVar	RCV000414979.5	Nov 01, 2024 (157)
153	ClinVar	RCV001195427.8	Nov 01, 2024 (157)
154	ClinVar	RCV001381522.25	Nov 01, 2024 (157)

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)
rs281860678	Dec 12, 2012 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
44228621, ss3937051227	NC_000018.9:55238819:A:C	NC_000018.10:57571587:A:C	(self)
ss76643273, ss90807630, ss160525370, ss283015890, ss480496823, ss1697863397, ss1713631403, ss3643175426	NC_000018.8:53389817:A:G	NC_000018.10:57571587:A:G	(self)
74644814, 41367284, 196821, 29225203, 3633685, 107727, 4624271, 1651940, 18427487, 44228621, 603022, 15889206, 1056508, 283433, 19311007, 39179405, 10427917, 41367284, ss237493747, ss243737172, ss480511166, ss481315718, ss485045912, ss491140633, ss537066223, ss661519942, ss713447701, ss778488869, ss782969178, ss783930857, ss832225480, ss833944844, ss993801204, ss1081554136, ss1361305933, ss1428239938, ss1578433470, ss1584111266, ss1637029067, ss1680023100, ss1693161020, ss1711487262, ss1752260918, ss1937269085, ss1968540354, ss2029404602, ss2157911563, ss2629199890, ss2633481474, ss2702502776, ss2743314046, ss2749963861, ss2957480814, ss2985119524, ss2985757378, ss3016640089, ss3352055363, ss3627824885, ss3631457673, ss3633164936, ss3633873812, ss3634708931, ss3635561049, ss3636398469, ss3637312667, ss3638199982, ss3640416239, ss3646523968, ss3653891635, ss3683486955, ss3742604341, ss3745009064, ss3755478210, ss3772506531, ss3825194925, ss3825916608, ss3835204918, ss3887162425, ss3937051227, ss3984133669, ss3984733881, ss3985830581, ss3986759593, ss4017801767, ss6276427526, ss6318683762, ss6322606159, ss6333401754, ss6347572319, ss6404692224, ss8225485672, ss8315938315, ss8431872336, ss8661433051, ss8799995493, ss8827641336, ss8848469441, ss8952857318, ss8981306557, ss8981827647, ss8981827648	NC_000018.9:55238819:A:G	NC_000018.10:57571587:A:G	(self)
RCV000000592.26, RCV000414979.5, RCV001195427.8, RCV001381522.25, 98031549, 58725525, 564583275, 1616577, 36659449, 47180533, 195626248, 274752464, 5555036419, ss539053073, ss2222159297, ss3028531522, ss3701797555, ss3725681892, ss3820733623, ss3980281448, ss6178250428, ss6322038333, ss6397328635, ss6404192647, ss6463384875, ss8059206801, ss8305535475, ss8498279388, ss8610505614, ss8783367321, ss8817159180, ss8852082456, ss8874367739, ss8982056685, ss8982098639, ss10037018507	NC_000018.10:57571587:A:G	NC_000018.10:57571587:A:G	(self)
ss3208001, ss46554129, ss65758684, ss74864669, ss106549175, ss119425710, ss137405385, ss155235936, ss173233376	NT_025028.14:3029683:A:G	NC_000018.10:57571587:A:G	(self)
5555036419	NC_000018.10:57571587:A:T	NC_000018.10:57571587:A:T	(self)

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

7 citations for rs2272783

PMID	Title	Author	Year	Journal
11753383	The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.	Gouya L et al.	2002	Nature genetics
14669009	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.	Gouya L et al.	2004	Human genetics
16385445	Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.	Gouya L et al.	2006	American journal of human genetics
17875872	Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.	Herrero C et al.	2007	Archives of dermatology
23016163	Erythropoietic Protoporphyria, Autosomal Recessive.	Balwani M et al.	1993	GeneReviews(®)
23386860	Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.	Pasquale LR et al.	2013	Frontiers in genetics
23820649	Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.	Cooper DN et al.	2013	Human genetics

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2272783