Name: rs11166310
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.

rs11166310

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:99730634 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.032000 (8470/264690, TOPMED)
G=0.023888 (3347/140110, GnomAD)
G=0.04923 (1391/28256, 14KJPN) (+ 15 more)
G=0.01742 (329/18890, ALFA)
G=0.05060 (848/16760, 8.3KJPN)
G=0.0375 (240/6404, 1000G_30x)
G=0.0381 (191/5008, 1000G)
G=0.0201 (90/4480, Estonian)
G=0.0054 (21/3854, ALSPAC)
G=0.0062 (23/3708, TWINSUK)
G=0.0729 (213/2922, KOREAN)
G=0.0808 (148/1832, Korea1K)
G=0.002 (2/998, GoNL)
G=0.018 (11/600, NorthernSweden)
G=0.005 (1/216, Qatari)
A=0.45 (26/58, SGDP_PRJ)
A=0.5 (2/4, Siberian)
G=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FRRS1 : 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	18890	A=0.98258	G=0.01742
European	Sub	14286	A=0.98943	G=0.01057
African	Sub	2946	A=0.9793	G=0.0207
African Others	Sub	114	A=0.974	G=0.026
African American	Sub	2832	A=0.9795	G=0.0205
Asian	Sub	112	A=0.929	G=0.071
East Asian	Sub	86	A=0.91	G=0.09
Other Asian	Sub	26	A=1.00	G=0.00
Latin American 1	Sub	146	A=0.959	G=0.041
Latin American 2	Sub	610	A=0.874	G=0.126
South Asian	Sub	98	A=1.00	G=0.00
Other	Sub	692	A=0.962	G=0.038

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=0.968000	G=0.032000
gnomAD - Genomes	Global	Study-wide	140110	A=0.976112	G=0.023888
gnomAD - Genomes	European	Sub	75896	A=0.98834	G=0.01166
gnomAD - Genomes	African	Sub	41980	A=0.97697	G=0.02303
gnomAD - Genomes	American	Sub	13634	A=0.91441	G=0.08559
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.9991	G=0.0009
gnomAD - Genomes	East Asian	Sub	3128	A=0.9169	G=0.0831
gnomAD - Genomes	Other	Sub	2152	A=0.9698	G=0.0302
14KJPN	JAPANESE	Study-wide	28256	A=0.95077	G=0.04923
Allele Frequency Aggregator	Total	Global	18890	A=0.98258	G=0.01742
Allele Frequency Aggregator	European	Sub	14286	A=0.98943	G=0.01057
Allele Frequency Aggregator	African	Sub	2946	A=0.9793	G=0.0207
Allele Frequency Aggregator	Other	Sub	692	A=0.962	G=0.038
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.874	G=0.126
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.959	G=0.041
Allele Frequency Aggregator	Asian	Sub	112	A=0.929	G=0.071
Allele Frequency Aggregator	South Asian	Sub	98	A=1.00	G=0.00
8.3KJPN	JAPANESE	Study-wide	16760	A=0.94940	G=0.05060
1000Genomes_30x	Global	Study-wide	6404	A=0.9625	G=0.0375
1000Genomes_30x	African	Sub	1786	A=0.9787	G=0.0213
1000Genomes_30x	Europe	Sub	1266	A=0.9882	G=0.0118
1000Genomes_30x	South Asian	Sub	1202	A=0.9975	G=0.0025
1000Genomes_30x	East Asian	Sub	1170	A=0.9265	G=0.0735
1000Genomes_30x	American	Sub	980	A=0.900	G=0.100
1000Genomes	Global	Study-wide	5008	A=0.9619	G=0.0381
1000Genomes	African	Sub	1322	A=0.9781	G=0.0219
1000Genomes	East Asian	Sub	1008	A=0.9246	G=0.0754
1000Genomes	Europe	Sub	1006	A=0.9861	G=0.0139
1000Genomes	South Asian	Sub	978	A=0.998	G=0.002
1000Genomes	American	Sub	694	A=0.899	G=0.101
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9799	G=0.0201
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9946	G=0.0054
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9938	G=0.0062
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.9271	G=0.0729
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9192	G=0.0808
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.998	G=0.002
Northern Sweden	ACPOP	Study-wide	600	A=0.982	G=0.018
Qatari	Global	Study-wide	216	A=0.995	G=0.005
SGDP_PRJ	Global	Study-wide	58	A=0.45	G=0.55
Siberian	Global	Study-wide	4	A=0.5	G=0.5

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 1	NC_000001.11:g.99730634A>G
GRCh37.p13 chr 1	NC_000001.10:g.100196190A>G

Gene: FRRS1, ferric chelate reductase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FRRS1 transcript variant 1	NM_001013660.4:c.760-886T… NM_001013660.4:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant 2	NM_001361041.2:c.760-886T… NM_001361041.2:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant X1	XM_011541451.4:c.760-886T… XM_011541451.4:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant X5	XM_011541452.2:c.760-886T… XM_011541452.2:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant X2	XM_017001271.2:c.760-886T… XM_017001271.2:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant X3	XM_047420239.1:c.760-886T… XM_047420239.1:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant X6	XM_047420257.1:c.760-886T… XM_047420257.1:c.760-886T>C	N/A	Intron Variant
FRRS1 transcript variant X4	XR_946655.2:n.	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	A=	G
GRCh38.p14 chr 1	NC_000001.11:g.99730634=	NC_000001.11:g.99730634A>G
GRCh37.p13 chr 1	NC_000001.10:g.100196190=	NC_000001.10:g.100196190A>G
FRRS1 transcript	NM_001013660.2:c.760-886=	NM_001013660.2:c.760-886T>C
FRRS1 transcript variant 1	NM_001013660.4:c.760-886=	NM_001013660.4:c.760-886T>C
FRRS1 transcript variant 2	NM_001361041.2:c.760-886=	NM_001361041.2:c.760-886T>C
FRRS1 transcript variant X1	XM_005270860.1:c.760-886=	XM_005270860.1:c.760-886T>C
FRRS1 transcript variant X2	XM_005270861.1:c.760-886=	XM_005270861.1:c.760-886T>C
FRRS1 transcript variant X1	XM_011541451.4:c.760-886=	XM_011541451.4:c.760-886T>C
FRRS1 transcript variant X5	XM_011541452.2:c.760-886=	XM_011541452.2:c.760-886T>C
FRRS1 transcript variant X2	XM_017001271.2:c.760-886=	XM_017001271.2:c.760-886T>C
FRRS1 transcript variant X3	XM_047420239.1:c.760-886=	XM_047420239.1:c.760-886T>C
FRRS1 transcript variant X6	XM_047420257.1:c.760-886=	XM_047420257.1:c.760-886T>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#.

39 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18070381	Feb 27, 2004 (120)
2	SC_SNP	ss18857947	Feb 27, 2004 (120)
3	1000GENOMES	ss328807110	May 09, 2011 (134)
4	SSMP	ss648254581	Apr 25, 2013 (138)
5	EVA-GONL	ss975484089	Aug 21, 2014 (142)
6	JMKIDD_LAB	ss1068128560	Aug 21, 2014 (142)
7	1000GENOMES	ss1292111791	Aug 21, 2014 (142)
8	EVA_DECODE	ss1584862407	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1600819246	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1643813279	Apr 01, 2015 (144)
11	WEILL_CORNELL_DGM	ss1918683701	Feb 12, 2016 (147)
12	JJLAB	ss2019863366	Sep 14, 2016 (149)
13	USC_VALOUEV	ss2147881925	Dec 20, 2016 (150)
14	HUMAN_LONGEVITY	ss2165039663	Dec 20, 2016 (150)
15	SYSTEMSBIOZJU	ss2624443037	Nov 08, 2017 (151)
16	GRF	ss2697809391	Nov 08, 2017 (151)
17	GNOMAD	ss2758648909	Nov 08, 2017 (151)
18	SWEGEN	ss2987307171	Nov 08, 2017 (151)
19	EGCUT_WGS	ss3655392436	Jul 12, 2019 (153)
20	EVA_DECODE	ss3687369163	Jul 12, 2019 (153)
21	ACPOP	ss3727314985	Jul 12, 2019 (153)
22	EVA	ss3746575309	Jul 12, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3799576163	Jul 12, 2019 (153)
24	SGDP_PRJ	ss3849479643	Apr 25, 2020 (154)
25	KRGDB	ss3894557737	Apr 25, 2020 (154)
26	KOGIC	ss3945093042	Apr 25, 2020 (154)
27	TOPMED	ss4460733077	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5145317534	Apr 25, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5243325203	Oct 12, 2022 (156)
30	EVA	ss5320680153	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5444277413	Oct 12, 2022 (156)
32	EVA	ss5505964685	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5516169771	Oct 12, 2022 (156)
34	SANFORD_IMAGENETICS	ss5626133908	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5670478226	Oct 12, 2022 (156)
36	YY_MCH	ss5800860591	Oct 12, 2022 (156)
37	EVA	ss5832373461	Oct 12, 2022 (156)
38	EVA	ss5909477740	Oct 12, 2022 (156)
39	EVA	ss5937995105	Oct 12, 2022 (156)
40	1000Genomes	NC_000001.10 - 100196190	Oct 11, 2018 (152)
41	1000Genomes_30x	NC_000001.11 - 99730634	Oct 12, 2022 (156)
42	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 100196190	Oct 11, 2018 (152)
43	Genetic variation in the Estonian population	NC_000001.10 - 100196190	Oct 11, 2018 (152)
44	gnomAD - Genomes	NC_000001.11 - 99730634	Apr 25, 2021 (155)
45	Genome of the Netherlands Release 5	NC_000001.10 - 100196190	Apr 25, 2020 (154)
46	KOREAN population from KRGDB	NC_000001.10 - 100196190	Apr 25, 2020 (154)
47	Korean Genome Project	NC_000001.11 - 99730634	Apr 25, 2020 (154)
48	Northern Sweden	NC_000001.10 - 100196190	Jul 12, 2019 (153)
49	Qatari	NC_000001.10 - 100196190	Apr 25, 2020 (154)
50	SGDP_PRJ	NC_000001.10 - 100196190	Apr 25, 2020 (154)
51	Siberian	NC_000001.10 - 100196190	Apr 25, 2020 (154)
52	8.3KJPN	NC_000001.10 - 100196190	Apr 25, 2021 (155)
53	14KJPN	NC_000001.11 - 99730634	Oct 12, 2022 (156)
54	TopMed	NC_000001.11 - 99730634	Apr 25, 2021 (155)
55	UK 10K study - Twins	NC_000001.10 - 100196190	Oct 11, 2018 (152)
56	ALFA	NC_000001.11 - 99730634	Apr 25, 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
ss1584862407	NC_000001.9:99968777:A:G	NC_000001.11:99730633:A:G	(self)
2875497, 1586363, 1130684, 688177, 1735131, 599850, 725631, 1496623, 398279, 3286841, 1586363, ss328807110, ss648254581, ss975484089, ss1068128560, ss1292111791, ss1600819246, ss1643813279, ss1918683701, ss2019863366, ss2147881925, ss2624443037, ss2697809391, ss2758648909, ss2987307171, ss3655392436, ss3727314985, ss3746575309, ss3849479643, ss3894557737, ss5145317534, ss5320680153, ss5505964685, ss5626133908, ss5832373461, ss5937995105	NC_000001.10:100196189:A:G	NC_000001.11:99730633:A:G	(self)
3695706, 20325624, 1471043, 4315330, 24339412, 6660371324, ss2165039663, ss3687369163, ss3799576163, ss3945093042, ss4460733077, ss5243325203, ss5444277413, ss5516169771, ss5670478226, ss5800860591, ss5909477740	NC_000001.11:99730633:A:G	NC_000001.11:99730633:A:G	(self)
ss18070381, ss18857947	NT_028050.13:8385133:A:G	NC_000001.11:99730633:A:G	(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 rs11166310

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

rs11166310