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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs201241191

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr19:48965836 (GRCh38.p7) 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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00017 (43/246206, GnomAD)
A=0.00012 (15/125568, TOPMED)
A=0.00017 (21/121238, ExAC) (+ 2 more)
A=0.0001 (2/30982, GnomAD)
A=0.0002 (2/13006, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FTL : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
Help

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.p7 chr 19 NC_000019.10:g.48965836G>A
GRCh37.p13 chr 19 NC_000019.9:g.49469093G>A
FTL RefSeqGene NG_008152.1:g.5528G>A
Gene: FTL, ferritin, light polypeptide (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FTL transcript NM_000146.3:c.169G>A E [GAG] > K [AAG] Coding Sequence Variant
ferritin light chain NP_000137.2:p.Glu...

NP_000137.2:p.Glu57Lys

E (Glu) > K (Lys) Missense Variant
Help

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: A (allele ID: 166212 )
ClinVar Accession Disease Names Clinical Significance
RCV000144502.1 sporadic abdominal aortic aneurysm Likely-Pathogenic
RCV000311515.1 Neuroferritinopathy Uncertain-Significance
RCV000395171.1 Hyperferritinemia cataract syndrome Uncertain-Significance
Help

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
The Genome Aggregation Database Global Study-wide 246206 G=0.99983 A=0.00017
The Genome Aggregation Database European Sub 133966 G=0.99998 A=0.00002
The Genome Aggregation Database Asian Sub 48028 G=1.0000 A=0.0000
The Genome Aggregation Database American Sub 33580 G=1.0000 A=0.0000
The Genome Aggregation Database African Sub 15298 G=1.0000 A=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 9848 G=0.996 A=0.004
The Genome Aggregation Database Other Sub 5486 G=1.000 A=0.000
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.99988 A=0.00012
The Exome Aggregation Consortium Global Study-wide 121238 G=0.99983 A=0.00017
The Exome Aggregation Consortium Europe Sub 73254 G=0.9997 A=0.0003
The Exome Aggregation Consortium Asian Sub 25152 G=1.0000 A=0.0000
The Exome Aggregation Consortium American Sub 11560 G=1.0000 A=0.0000
The Exome Aggregation Consortium African Sub 10366 G=1.0000 A=0.0000
The Exome Aggregation Consortium Other Sub 906 G=1.00 A=0.00
The Genome Aggregation Database Global Study-wide 30982 G=0.9999 A=0.0001
The Genome Aggregation Database European Sub 18502 G=0.9999 A=0.0001
The Genome Aggregation Database African Sub 8736 G=1.000 A=0.000
The Genome Aggregation Database East Asian Sub 1622 G=1.000 A=0.000
The Genome Aggregation Database Other Sub 982 G=1.00 A=0.00
The Genome Aggregation Database American Sub 838 G=1.00 A=0.00
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 13006 G=0.9998 A=0.0002
GO Exome Sequencing Project European American Sub 8600 G=1.000 A=0.000
GO Exome Sequencing Project African American Sub 4406 G=1.000 A=0.000
Help

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 G= A Note
GRCh38.p7 chr 19 NC_000019.10:g.48965836G= NC_000019.10:g.48965836G>A
GRCh37.p13 chr 19 NC_000019.9:g.49469093G= NC_000019.9:g.49469093G>A
FTL RefSeqGene NG_008152.1:g.5528G= NG_008152.1:g.5528G>A
FTL transcript NM_000146.3:c.169G= NM_000146.3:c.169G>A
ferritin light chain NP_000137.2:p.Glu57= NP_000137.2:p.Glu57Lys
Help

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#.

5 Frequency, 11 SubSNP, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINSEQ_SNP ss491771427 May 04, 2012 (137)
2 NHLBI-ESP ss713538516 Apr 25, 2013 (138)
3 CLINVAR ss1457622054 Nov 23, 2014 (142)
4 EVA_EXAC ss1693717872 Apr 01, 2015 (144)
5 HUMAN_LONGEVITY ss2226262511 Dec 20, 2016 (150)
6 TOPMED ss2392087251 Dec 20, 2016 (150)
7 GNOMAD ss2744176048 Nov 08, 2017 (151)
8 GNOMAD ss2750245712 Nov 08, 2017 (151)
9 GNOMAD ss2963698100 Nov 08, 2017 (151)
10 AFFY ss2985148811 Nov 08, 2017 (151)
11 TOPMED ss3295160574 Nov 08, 2017 (151)
12 The Exome Aggregation Consortium NC_000019.9 - 49469093 Jul 20, 2018 (151)
13 The Genome Aggregation Database NC_000019.9 - 49469093 Jul 20, 2018 (151)
14 The Genome Aggregation Database NC_000019.9 - 49469093 Jul 20, 2018 (151)
15 GO Exome Sequencing Project NC_000019.9 - 49469093 Jul 20, 2018 (151)
16 Trans-Omics for Precision Medicine NC_000019.10 - 48965836 Jul 20, 2018 (151)
17 ClinVar RCV000144502.1 Jul 20, 2018 (151)
18 ClinVar RCV000311515.1 Jul 20, 2018 (151)
19 ClinVar RCV000395171.1 Jul 20, 2018 (151)
Help

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
ss491771427 NC_000019.8:54160904:G= NC_000019.10:48965835:G= (self)
4230541, 97399630, 13190783, 1768987, ss713538516, ss1693717872, ss2392087251, ss2744176048, ss2750245712, ss2963698100, ss2985148811 NC_000019.9:49469092:G= NC_000019.10:48965835:G= (self)
182616963, ss1457622054, ss2226262511, ss3295160574 NC_000019.10:48965835:G= NC_000019.10:48965835:G= (self)
ss491771427 NC_000019.8:54160904:G>A NC_000019.10:48965835:G>A (self)
4230541, 97399630, 13190783, 1768987, ss713538516, ss1693717872, ss2392087251, ss2744176048, ss2750245712, ss2963698100, ss2985148811 NC_000019.9:49469092:G>A NC_000019.10:48965835:G>A (self)
RCV000144502.1, RCV000311515.1, RCV000395171.1, 182616963, ss1457622054, ss2226262511, ss3295160574 NC_000019.10:48965835:G>A NC_000019.10:48965835:G>A (self)
Help

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

1 citation for rs201241191
PMID Title Author Year Journal
17182944 The candidate gene approach to susceptibility for abdominal aortic aneurysm: TIMP1, HLA-DR-15, ferritin light chain, and collagen XI-Alpha-1. Tilson MD 3rd et al. 2006 Annals of the New York Academy of Sciences

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.

Software version is: 0.1.4.post833+d3ba21e