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dbSNP Short Genetic Variations

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.

rs148545460

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:128848818 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000113 (30/264690, TOPMED)
G=0.000157 (22/140268, GnomAD)
G=0.000166 (20/120558, ExAC) (+ 4 more)
G=0.000237 (26/109770, ALFA)
G=0.00003 (2/78700, PAGE_STUDY)
G=0.00016 (2/12646, GO-ESP)
G=0.0002 (1/6404, 1000G_30x)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FLNC : Missense 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 109770 C=0.999763 G=0.000237
European Sub 92278 C=0.99974 G=0.00026
African Sub 4312 C=1.0000 G=0.0000
African Others Sub 174 C=1.000 G=0.000
African American Sub 4138 C=1.0000 G=0.0000
Asian Sub 3328 C=1.0000 G=0.0000
East Asian Sub 2672 C=1.0000 G=0.0000
Other Asian Sub 656 C=1.000 G=0.000
Latin American 1 Sub 790 C=1.000 G=0.000
Latin American 2 Sub 946 C=1.000 G=0.000
South Asian Sub 274 C=1.000 G=0.000
Other Sub 7842 C=0.9997 G=0.0003


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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999887 G=0.000113
gnomAD - Genomes Global Study-wide 140268 C=0.999843 G=0.000157
gnomAD - Genomes European Sub 75956 C=0.99975 G=0.00025
gnomAD - Genomes African Sub 42038 C=0.99993 G=0.00007
gnomAD - Genomes American Sub 13666 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 G=0.0000
ExAC Global Study-wide 120558 C=0.999834 G=0.000166
ExAC Europe Sub 73230 C=0.99974 G=0.00026
ExAC Asian Sub 25134 C=1.00000 G=0.00000
ExAC American Sub 11562 C=1.00000 G=0.00000
ExAC African Sub 9734 C=0.9999 G=0.0001
ExAC Other Sub 898 C=1.000 G=0.000
Allele Frequency Aggregator Total Global 109770 C=0.999763 G=0.000237
Allele Frequency Aggregator European Sub 92278 C=0.99974 G=0.00026
Allele Frequency Aggregator Other Sub 7842 C=0.9997 G=0.0003
Allele Frequency Aggregator African Sub 4312 C=1.0000 G=0.0000
Allele Frequency Aggregator Asian Sub 3328 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 946 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 790 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 274 C=1.000 G=0.000
The PAGE Study Global Study-wide 78700 C=0.99997 G=0.00003
The PAGE Study AfricanAmerican Sub 32516 C=1.00000 G=0.00000
The PAGE Study Mexican Sub 10810 C=0.99981 G=0.00019
The PAGE Study Asian Sub 8318 C=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7916 C=1.0000 G=0.0000
The PAGE Study NativeHawaiian Sub 4534 C=1.0000 G=0.0000
The PAGE Study Cuban Sub 4230 C=1.0000 G=0.0000
The PAGE Study Dominican Sub 3828 C=1.0000 G=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 G=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 G=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 G=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 12646 C=0.99984 G=0.00016
GO Exome Sequencing Project European American Sub 8440 C=0.9998 G=0.0002
GO Exome Sequencing Project African American Sub 4206 C=1.0000 G=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9998 G=0.0002
1000Genomes_30x African Sub 1786 C=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9992 G=0.0008
1000Genomes_30x South Asian Sub 1202 C=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=1.000 G=0.000
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.p14 chr 7 NC_000007.14:g.128848818C>G
GRCh38.p14 chr 7 NC_000007.14:g.128848818C>T
GRCh37.p13 chr 7 NC_000007.13:g.128488872C>G
GRCh37.p13 chr 7 NC_000007.13:g.128488872C>T
FLNC RefSeqGene (LRG_870) NG_011807.1:g.23390C>G
FLNC RefSeqGene (LRG_870) NG_011807.1:g.23390C>T
Gene: FLNC, filamin C (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FLNC transcript variant 2 NM_001127487.2:c.4763C>G A [GCC] > G [GGC] Coding Sequence Variant
filamin-C isoform b NP_001120959.1:p.Ala1588G…

NP_001120959.1:p.Ala1588Gly

A (Ala) > G (Gly) Missense Variant
FLNC transcript variant 2 NM_001127487.2:c.4763C>T A [GCC] > V [GTC] Coding Sequence Variant
filamin-C isoform b NP_001120959.1:p.Ala1588V…

NP_001120959.1:p.Ala1588Val

A (Ala) > V (Val) Missense Variant
FLNC transcript variant 1 NM_001458.5:c.4763C>G A [GCC] > G [GGC] Coding Sequence Variant
filamin-C isoform a NP_001449.3:p.Ala1588Gly A (Ala) > G (Gly) Missense Variant
FLNC transcript variant 1 NM_001458.5:c.4763C>T A [GCC] > V [GTC] Coding Sequence Variant
filamin-C isoform a NP_001449.3:p.Ala1588Val A (Ala) > V (Val) 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: G (allele ID: 456291 )
ClinVar Accession Disease Names Clinical Significance
RCV000537141.4 Dilated Cardiomyopathy, Dominant,Distal myopathy with posterior leg and anterior hand involvement,Hypertrophic cardiomyopathy 26,Myofibrillar myopathy 5 Uncertain-Significance
RCV001560414.8 not provided Likely-Benign
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 C= G T
GRCh38.p14 chr 7 NC_000007.14:g.128848818= NC_000007.14:g.128848818C>G NC_000007.14:g.128848818C>T
GRCh37.p13 chr 7 NC_000007.13:g.128488872= NC_000007.13:g.128488872C>G NC_000007.13:g.128488872C>T
FLNC RefSeqGene (LRG_870) NG_011807.1:g.23390= NG_011807.1:g.23390C>G NG_011807.1:g.23390C>T
FLNC transcript variant 1 NM_001458.5:c.4763= NM_001458.5:c.4763C>G NM_001458.5:c.4763C>T
FLNC transcript variant 1 NM_001458.4:c.4763= NM_001458.4:c.4763C>G NM_001458.4:c.4763C>T
FLNC transcript variant 2 NM_001127487.2:c.4763= NM_001127487.2:c.4763C>G NM_001127487.2:c.4763C>T
FLNC transcript variant 2 NM_001127487.1:c.4763= NM_001127487.1:c.4763C>G NM_001127487.1:c.4763C>T
filamin-C isoform a NP_001449.3:p.Ala1588= NP_001449.3:p.Ala1588Gly NP_001449.3:p.Ala1588Val
filamin-C isoform b NP_001120959.1:p.Ala1588= NP_001120959.1:p.Ala1588Gly NP_001120959.1:p.Ala1588Val
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#.

37 SubSNP, 9 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss334435975 May 09, 2011 (134)
2 EXOME_CHIP ss491405568 May 04, 2012 (137)
3 CLINSEQ_SNP ss491914804 May 04, 2012 (137)
4 NHLBI-ESP ss712799008 Apr 25, 2013 (138)
5 ILLUMINA ss780864098 Aug 21, 2014 (142)
6 ILLUMINA ss783548693 Aug 21, 2014 (142)
7 EVA_EXAC ss1688940826 Apr 01, 2015 (144)
8 ILLUMINA ss1752663550 Sep 08, 2015 (146)
9 ILLUMINA ss1917822016 Feb 12, 2016 (147)
10 ILLUMINA ss1946220510 Feb 12, 2016 (147)
11 ILLUMINA ss1959050617 Feb 12, 2016 (147)
12 HUMAN_LONGEVITY ss2297834586 Dec 20, 2016 (150)
13 GNOMAD ss2736756881 Nov 08, 2017 (151)
14 GNOMAD ss2747920783 Nov 08, 2017 (151)
15 GNOMAD ss2859084477 Nov 08, 2017 (151)
16 AFFY ss2985420073 Nov 08, 2017 (151)
17 SWEGEN ss3002029007 Nov 08, 2017 (151)
18 ILLUMINA ss3022778639 Nov 08, 2017 (151)
19 ILLUMINA ss3625937995 Oct 12, 2018 (152)
20 ILLUMINA ss3629912628 Oct 12, 2018 (152)
21 ILLUMINA ss3635141268 Oct 12, 2018 (152)
22 ILLUMINA ss3640848559 Oct 12, 2018 (152)
23 ILLUMINA ss3644953665 Oct 12, 2018 (152)
24 ILLUMINA ss3653313731 Oct 12, 2018 (152)
25 ILLUMINA ss3654181495 Oct 12, 2018 (152)
26 ILLUMINA ss3726481230 Jul 13, 2019 (153)
27 ILLUMINA ss3744573147 Jul 13, 2019 (153)
28 ILLUMINA ss3745441263 Jul 13, 2019 (153)
29 PAGE_CC ss3771398184 Jul 13, 2019 (153)
30 ILLUMINA ss3772934002 Jul 13, 2019 (153)
31 EVA ss3824316545 Apr 26, 2020 (154)
32 TOPMED ss4763689863 Apr 26, 2021 (155)
33 1000G_HIGH_COVERAGE ss5563886299 Oct 14, 2022 (156)
34 EVA ss5848153612 Oct 14, 2022 (156)
35 EVA ss5848692388 Oct 14, 2022 (156)
36 EVA ss5973181143 Oct 14, 2022 (156)
37 EVA ss5979841086 Oct 14, 2022 (156)
38 1000Genomes_30x NC_000007.14 - 128848818 Oct 14, 2022 (156)
39 ExAC NC_000007.13 - 128488872 Oct 12, 2018 (152)
40 gnomAD - Genomes NC_000007.14 - 128848818 Apr 26, 2021 (155)
41 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5920972 (NC_000007.13:128488871:C:C 249234/249274, NC_000007.13:128488871:C:G 40/249274)
Row 5920973 (NC_000007.13:128488871:C:C 249273/249274, NC_000007.13:128488871:C:T 1/249274)

- Jul 13, 2019 (153)
42 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5920972 (NC_000007.13:128488871:C:C 249234/249274, NC_000007.13:128488871:C:G 40/249274)
Row 5920973 (NC_000007.13:128488871:C:C 249273/249274, NC_000007.13:128488871:C:T 1/249274)

- Jul 13, 2019 (153)
43 GO Exome Sequencing Project NC_000007.13 - 128488872 Oct 12, 2018 (152)
44 The PAGE Study NC_000007.14 - 128848818 Jul 13, 2019 (153)
45 TopMed NC_000007.14 - 128848818 Apr 26, 2021 (155)
46 ALFA NC_000007.14 - 128848818 Apr 26, 2021 (155)
47 ClinVar RCV000537141.4 Apr 26, 2021 (155)
48 ClinVar RCV001560414.8 Oct 14, 2022 (156)
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
ss491914804 NC_000007.12:128276107:C:G NC_000007.14:128848817:C:G (self)
9022583, 774429, ss334435975, ss491405568, ss712799008, ss780864098, ss783548693, ss1688940826, ss1752663550, ss1917822016, ss1946220510, ss1959050617, ss2736756881, ss2747920783, ss2859084477, ss2985420073, ss3002029007, ss3022778639, ss3625937995, ss3629912628, ss3635141268, ss3640848559, ss3644953665, ss3653313731, ss3654181495, ss3744573147, ss3745441263, ss3772934002, ss3824316545, ss5848153612, ss5848692388, ss5973181143, ss5979841086 NC_000007.13:128488871:C:G NC_000007.14:128848817:C:G (self)
RCV000537141.4, RCV001560414.8, 51412234, 276588868, 619653, 601067422, 462039761, ss2297834586, ss3726481230, ss3771398184, ss4763689863, ss5563886299 NC_000007.14:128848817:C:G NC_000007.14:128848817:C:G (self)
ss2736756881 NC_000007.13:128488871:C:T NC_000007.14:128848817:C:T (self)
Help

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

No publications for rs148545460

Help

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.

Software version is: 2.0.1.post761+d5e8e07