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.
rs1966265
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:177089630 (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
- G>A / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.227078 (71302/313998, ALFA)A=0.191567 (50706/264690, TOPMED)A=0.246306 (61443/249458, GnomAD_exome) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- FGFR4 : Missense Variant
- Publications
- 22 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.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 330490 | G=0.775515 | A=0.224485 |
European | Sub | 280228 | G=0.777428 | A=0.222572 |
African | Sub | 14494 | G=0.94087 | A=0.05913 |
African Others | Sub | 514 | G=0.988 | A=0.012 |
African American | Sub | 13980 | G=0.93913 | A=0.06087 |
Asian | Sub | 6844 | G=0.4768 | A=0.5232 |
East Asian | Sub | 4898 | G=0.4412 | A=0.5588 |
Other Asian | Sub | 1946 | G=0.5663 | A=0.4337 |
Latin American 1 | Sub | 1060 | G=0.8387 | A=0.1613 |
Latin American 2 | Sub | 6476 | G=0.6895 | A=0.3105 |
South Asian | Sub | 320 | G=0.759 | A=0.241 |
Other | Sub | 21068 | G=0.75688 | A=0.24312 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 313998 | G=0.772922 | A=0.227078 |
Allele Frequency Aggregator | European | Sub | 270024 | G=0.777590 | A=0.222410 |
Allele Frequency Aggregator | Other | Sub | 19618 | G=0.75466 | A=0.24534 |
Allele Frequency Aggregator | African | Sub | 9656 | G=0.9386 | A=0.0614 |
Allele Frequency Aggregator | Asian | Sub | 6844 | G=0.4768 | A=0.5232 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6476 | G=0.6895 | A=0.3105 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1060 | G=0.8387 | A=0.1613 |
Allele Frequency Aggregator | South Asian | Sub | 320 | G=0.759 | A=0.241 |
TopMed | Global | Study-wide | 264690 | G=0.808433 | A=0.191567 |
gnomAD - Exomes | Global | Study-wide | 249458 | G=0.753694 | A=0.246306 |
gnomAD - Exomes | European | Sub | 134014 | G=0.771695 | A=0.228305 |
gnomAD - Exomes | Asian | Sub | 48890 | G=0.66848 | A=0.33152 |
gnomAD - Exomes | American | Sub | 34292 | G=0.68138 | A=0.31862 |
gnomAD - Exomes | African | Sub | 16118 | G=0.94906 | A=0.05094 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10054 | G=0.84146 | A=0.15854 |
gnomAD - Exomes | Other | Sub | 6090 | G=0.7869 | A=0.2131 |
gnomAD - Genomes | Global | Study-wide | 140052 | G=0.815240 | A=0.184760 |
gnomAD - Genomes | European | Sub | 75832 | G=0.76875 | A=0.23125 |
gnomAD - Genomes | African | Sub | 41998 | G=0.94431 | A=0.05569 |
gnomAD - Genomes | American | Sub | 13630 | G=0.74674 | A=0.25326 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.8285 | A=0.1715 |
gnomAD - Genomes | East Asian | Sub | 3118 | G=0.4949 | A=0.5051 |
gnomAD - Genomes | Other | Sub | 2150 | G=0.8121 | A=0.1879 |
ExAC | Global | Study-wide | 117516 | G=0.759182 | A=0.240818 |
ExAC | Europe | Sub | 70788 | G=0.77513 | A=0.22487 |
ExAC | Asian | Sub | 24744 | G=0.67580 | A=0.32420 |
ExAC | American | Sub | 11202 | G=0.67622 | A=0.32378 |
ExAC | African | Sub | 9932 | G=0.9450 | A=0.0550 |
ExAC | Other | Sub | 850 | G=0.780 | A=0.220 |
The PAGE Study | Global | Study-wide | 78700 | G=0.79661 | A=0.20339 |
The PAGE Study | AfricanAmerican | Sub | 32514 | G=0.93944 | A=0.06056 |
The PAGE Study | Mexican | Sub | 10810 | G=0.70176 | A=0.29824 |
The PAGE Study | Asian | Sub | 8318 | G=0.4810 | A=0.5190 |
The PAGE Study | PuertoRican | Sub | 7918 | G=0.8104 | A=0.1896 |
The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.6094 | A=0.3906 |
The PAGE Study | Cuban | Sub | 4230 | G=0.8274 | A=0.1726 |
The PAGE Study | Dominican | Sub | 3828 | G=0.8576 | A=0.1424 |
The PAGE Study | CentralAmerican | Sub | 2450 | G=0.6898 | A=0.3102 |
The PAGE Study | SouthAmerican | Sub | 1982 | G=0.6564 | A=0.3436 |
The PAGE Study | NativeAmerican | Sub | 1260 | G=0.7762 | A=0.2238 |
The PAGE Study | SouthAsian | Sub | 856 | G=0.735 | A=0.265 |
14KJPN | JAPANESE | Study-wide | 28258 | G=0.44416 | A=0.55584 |
8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.44594 | A=0.55406 |
GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.82923 | A=0.17077 |
GO Exome Sequencing Project | European American | Sub | 8600 | G=0.7730 | A=0.2270 |
GO Exome Sequencing Project | African American | Sub | 4406 | G=0.9389 | A=0.0611 |
1000Genomes_30x | Global | Study-wide | 6404 | G=0.7770 | A=0.2230 |
1000Genomes_30x | African | Sub | 1786 | G=0.9821 | A=0.0179 |
1000Genomes_30x | Europe | Sub | 1266 | G=0.8191 | A=0.1809 |
1000Genomes_30x | South Asian | Sub | 1202 | G=0.7879 | A=0.2121 |
1000Genomes_30x | East Asian | Sub | 1170 | G=0.4923 | A=0.5077 |
1000Genomes_30x | American | Sub | 980 | G=0.676 | A=0.324 |
1000Genomes | Global | Study-wide | 5008 | G=0.7712 | A=0.2288 |
1000Genomes | African | Sub | 1322 | G=0.9818 | A=0.0182 |
1000Genomes | East Asian | Sub | 1008 | G=0.4931 | A=0.5069 |
1000Genomes | Europe | Sub | 1006 | G=0.8201 | A=0.1799 |
1000Genomes | South Asian | Sub | 978 | G=0.786 | A=0.214 |
1000Genomes | American | Sub | 694 | G=0.682 | A=0.318 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7623 | A=0.2377 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7506 | A=0.2494 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.7597 | A=0.2403 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.4205 | A=0.5795, C=0.0000, T=0.0000 |
HapMap | Global | Study-wide | 1888 | G=0.7897 | A=0.2103 |
HapMap | American | Sub | 768 | G=0.721 | A=0.279 |
HapMap | African | Sub | 692 | G=0.980 | A=0.020 |
HapMap | Asian | Sub | 252 | G=0.433 | A=0.567 |
HapMap | Europe | Sub | 176 | G=0.852 | A=0.148 |
Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.3941 | A=0.6059 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.759 | A=0.241 |
CNV burdens in cranial meningiomas | Global | Study-wide | 790 | G=0.468 | A=0.532 |
CNV burdens in cranial meningiomas | CRM | Sub | 790 | G=0.468 | A=0.532 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 603 | G=0.564 | A=0.436 |
Northern Sweden | ACPOP | Study-wide | 600 | G=0.703 | A=0.297 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.815 | A=0.185 |
FINRISK | Finnish from FINRISK project | Study-wide | 282 | G=0.773 | A=0.227 |
SGDP_PRJ | Global | Study-wide | 228 | G=0.377 | A=0.623 |
Qatari | Global | Study-wide | 216 | G=0.940 | A=0.060 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 50 | G=0.80 | A=0.20 |
The Danish reference pan genome | Danish | Study-wide | 40 | G=0.80 | A=0.20 |
Siberian | Global | Study-wide | 26 | G=0.46 | A=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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 5 | NC_000005.10:g.177089630G>A |
GRCh38.p14 chr 5 | NC_000005.10:g.177089630G>C |
GRCh38.p14 chr 5 | NC_000005.10:g.177089630G>T |
GRCh37.p13 chr 5 | NC_000005.9:g.176516631G>A |
GRCh37.p13 chr 5 | NC_000005.9:g.176516631G>C |
GRCh37.p13 chr 5 | NC_000005.9:g.176516631G>T |
FGFR4 RefSeqGene | NG_012067.1:g.7711G>A |
FGFR4 RefSeqGene | NG_012067.1:g.7711G>C |
FGFR4 RefSeqGene | NG_012067.1:g.7711G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
FGFR4 transcript variant 2 | NM_022963.3:c.28G>A | V [GTC] > I [ATC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 2 precursor | NP_075252.2:p.Val10Ile | V (Val) > I (Ile) | Missense Variant |
FGFR4 transcript variant 2 | NM_022963.3:c.28G>C | V [GTC] > L [CTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 2 precursor | NP_075252.2:p.Val10Leu | V (Val) > L (Leu) | Missense Variant |
FGFR4 transcript variant 2 | NM_022963.3:c.28G>T | V [GTC] > F [TTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 2 precursor | NP_075252.2:p.Val10Phe | V (Val) > F (Phe) | Missense Variant |
FGFR4 transcript variant 3 | NM_213647.3:c.28G>A | V [GTC] > I [ATC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_998812.1:p.Val10Ile | V (Val) > I (Ile) | Missense Variant |
FGFR4 transcript variant 3 | NM_213647.3:c.28G>C | V [GTC] > L [CTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_998812.1:p.Val10Leu | V (Val) > L (Leu) | Missense Variant |
FGFR4 transcript variant 3 | NM_213647.3:c.28G>T | V [GTC] > F [TTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_998812.1:p.Val10Phe | V (Val) > F (Phe) | Missense Variant |
FGFR4 transcript variant 4 | NM_001291980.2:c.28G>A | V [GTC] > I [ATC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 3 precursor | NP_001278909.1:p.Val10Ile | V (Val) > I (Ile) | Missense Variant |
FGFR4 transcript variant 4 | NM_001291980.2:c.28G>C | V [GTC] > L [CTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 3 precursor | NP_001278909.1:p.Val10Leu | V (Val) > L (Leu) | Missense Variant |
FGFR4 transcript variant 4 | NM_001291980.2:c.28G>T | V [GTC] > F [TTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 3 precursor | NP_001278909.1:p.Val10Phe | V (Val) > F (Phe) | Missense Variant |
FGFR4 transcript variant 1 | NM_002011.5:c.28G>A | V [GTC] > I [ATC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_002002.3:p.Val10Ile | V (Val) > I (Ile) | Missense Variant |
FGFR4 transcript variant 1 | NM_002011.5:c.28G>C | V [GTC] > L [CTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_002002.3:p.Val10Leu | V (Val) > L (Leu) | Missense Variant |
FGFR4 transcript variant 1 | NM_002011.5:c.28G>T | V [GTC] > F [TTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_002002.3:p.Val10Phe | V (Val) > F (Phe) | Missense Variant |
FGFR4 transcript variant 5 | NM_001354984.2:c.28G>A | V [GTC] > I [ATC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_001341913.1:p.Val10Ile | V (Val) > I (Ile) | Missense Variant |
FGFR4 transcript variant 5 | NM_001354984.2:c.28G>C | V [GTC] > L [CTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_001341913.1:p.Val10Leu | V (Val) > L (Leu) | Missense Variant |
FGFR4 transcript variant 5 | NM_001354984.2:c.28G>T | V [GTC] > F [TTC] | Coding Sequence Variant |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_001341913.1:p.Val10Phe | V (Val) > F (Phe) | Missense 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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV001713551.1 | 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 | G= | A | C | T |
---|---|---|---|---|
GRCh38.p14 chr 5 | NC_000005.10:g.177089630= | NC_000005.10:g.177089630G>A | NC_000005.10:g.177089630G>C | NC_000005.10:g.177089630G>T |
GRCh37.p13 chr 5 | NC_000005.9:g.176516631= | NC_000005.9:g.176516631G>A | NC_000005.9:g.176516631G>C | NC_000005.9:g.176516631G>T |
FGFR4 RefSeqGene | NG_012067.1:g.7711= | NG_012067.1:g.7711G>A | NG_012067.1:g.7711G>C | NG_012067.1:g.7711G>T |
FGFR4 transcript variant 1 | NM_002011.5:c.28= | NM_002011.5:c.28G>A | NM_002011.5:c.28G>C | NM_002011.5:c.28G>T |
FGFR4 transcript variant 1 | NM_002011.4:c.28= | NM_002011.4:c.28G>A | NM_002011.4:c.28G>C | NM_002011.4:c.28G>T |
FGFR4 transcript variant 1 | NM_002011.3:c.28= | NM_002011.3:c.28G>A | NM_002011.3:c.28G>C | NM_002011.3:c.28G>T |
FGFR4 transcript variant 3 | NM_213647.3:c.28= | NM_213647.3:c.28G>A | NM_213647.3:c.28G>C | NM_213647.3:c.28G>T |
FGFR4 transcript variant 3 | NM_213647.2:c.28= | NM_213647.2:c.28G>A | NM_213647.2:c.28G>C | NM_213647.2:c.28G>T |
FGFR4 transcript variant 3 | NM_213647.1:c.28= | NM_213647.1:c.28G>A | NM_213647.1:c.28G>C | NM_213647.1:c.28G>T |
FGFR4 transcript variant 2 | NM_022963.3:c.28= | NM_022963.3:c.28G>A | NM_022963.3:c.28G>C | NM_022963.3:c.28G>T |
FGFR4 transcript variant 2 | NM_022963.2:c.28= | NM_022963.2:c.28G>A | NM_022963.2:c.28G>C | NM_022963.2:c.28G>T |
FGFR4 transcript variant 5 | NM_001354984.2:c.28= | NM_001354984.2:c.28G>A | NM_001354984.2:c.28G>C | NM_001354984.2:c.28G>T |
FGFR4 transcript variant 5 | NM_001354984.1:c.28= | NM_001354984.1:c.28G>A | NM_001354984.1:c.28G>C | NM_001354984.1:c.28G>T |
FGFR4 transcript variant 4 | NM_001291980.2:c.28= | NM_001291980.2:c.28G>A | NM_001291980.2:c.28G>C | NM_001291980.2:c.28G>T |
FGFR4 transcript variant 4 | NM_001291980.1:c.28= | NM_001291980.1:c.28G>A | NM_001291980.1:c.28G>C | NM_001291980.1:c.28G>T |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_002002.3:p.Val10= | NP_002002.3:p.Val10Ile | NP_002002.3:p.Val10Leu | NP_002002.3:p.Val10Phe |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_998812.1:p.Val10= | NP_998812.1:p.Val10Ile | NP_998812.1:p.Val10Leu | NP_998812.1:p.Val10Phe |
fibroblast growth factor receptor 4 isoform 2 precursor | NP_075252.2:p.Val10= | NP_075252.2:p.Val10Ile | NP_075252.2:p.Val10Leu | NP_075252.2:p.Val10Phe |
fibroblast growth factor receptor 4 isoform 1 precursor | NP_001341913.1:p.Val10= | NP_001341913.1:p.Val10Ile | NP_001341913.1:p.Val10Leu | NP_001341913.1:p.Val10Phe |
fibroblast growth factor receptor 4 isoform 3 precursor | NP_001278909.1:p.Val10= | NP_001278909.1:p.Val10Ile | NP_001278909.1:p.Val10Leu | NP_001278909.1:p.Val10Phe |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | TSC-CSHL | ss2869787 | Jan 12, 2001 (92) |
2 | SC_JCM | ss4045512 | Sep 28, 2001 (100) |
3 | COX | ss4384115 | Mar 26, 2002 (103) |
4 | CGAP-GAI | ss16249985 | Feb 27, 2004 (120) |
5 | CSHL-HAPMAP | ss20237959 | Feb 27, 2004 (120) |
6 | KYUGEN | ss28459144 | Sep 21, 2004 (123) |
7 | ABI | ss42446688 | Mar 10, 2006 (126) |
8 | CANCER-GENOME | ss48534085 | Mar 10, 2006 (126) |
9 | SI_EXO | ss52062926 | Oct 16, 2006 (127) |
10 | ILLUMINA | ss65726035 | Oct 16, 2006 (127) |
11 | PERLEGEN | ss68960615 | May 18, 2007 (127) |
12 | EGP_SNPS | ss71640779 | May 18, 2007 (127) |
13 | ILLUMINA | ss74904023 | Dec 06, 2007 (129) |
14 | HGSV | ss78044640 | Dec 06, 2007 (129) |
15 | HGSV | ss81662206 | Dec 15, 2007 (130) |
16 | HGSV | ss81720438 | Dec 15, 2007 (130) |
17 | CORNELL | ss86237166 | Mar 23, 2008 (129) |
18 | BGI | ss104267606 | Dec 01, 2009 (131) |
19 | 1000GENOMES | ss109657584 | Jan 24, 2009 (130) |
20 | 1000GENOMES | ss113725431 | Jan 25, 2009 (130) |
21 | SEATTLESEQ | ss159710907 | Dec 01, 2009 (131) |
22 | ILLUMINA | ss160482396 | Dec 01, 2009 (131) |
23 | COMPLETE_GENOMICS | ss162929649 | Jul 04, 2010 (132) |
24 | COMPLETE_GENOMICS | ss166331128 | Jul 04, 2010 (132) |
25 | COMPLETE_GENOMICS | ss167402110 | Jul 04, 2010 (132) |
26 | ILLUMINA | ss173015979 | Jul 04, 2010 (132) |
27 | BCM-HGSC-SUB | ss206827731 | Jul 04, 2010 (132) |
28 | 1000GENOMES | ss222141022 | Jul 14, 2010 (132) |
29 | 1000GENOMES | ss233273926 | Jul 14, 2010 (132) |
30 | 1000GENOMES | ss240370452 | Jul 15, 2010 (132) |
31 | BL | ss253964059 | May 09, 2011 (134) |
32 | GMI | ss278603361 | May 04, 2012 (137) |
33 | PJP | ss293529157 | May 09, 2011 (134) |
34 | NHLBI-ESP | ss342197885 | May 09, 2011 (134) |
35 | ILLUMINA | ss480362342 | May 04, 2012 (137) |
36 | ILLUMINA | ss480374438 | May 04, 2012 (137) |
37 | ILLUMINA | ss481144968 | Sep 08, 2015 (146) |
38 | ILLUMINA | ss484978747 | May 04, 2012 (137) |
39 | 1000GENOMES | ss490916940 | May 04, 2012 (137) |
40 | EXOME_CHIP | ss491376018 | May 04, 2012 (137) |
41 | CLINSEQ_SNP | ss491878552 | May 04, 2012 (137) |
42 | ILLUMINA | ss537015791 | Sep 08, 2015 (146) |
43 | SSMP | ss652829542 | Apr 25, 2013 (138) |
44 | ILLUMINA | ss778698135 | Sep 08, 2015 (146) |
45 | ILLUMINA | ss780844277 | Sep 08, 2015 (146) |
46 | ILLUMINA | ss782935678 | Sep 08, 2015 (146) |
47 | ILLUMINA | ss783527730 | Sep 08, 2015 (146) |
48 | ILLUMINA | ss783898402 | Sep 08, 2015 (146) |
49 | ILLUMINA | ss832191189 | Sep 08, 2015 (146) |
50 | ILLUMINA | ss834157001 | Sep 08, 2015 (146) |
51 | EVA-GONL | ss982457399 | Aug 21, 2014 (142) |
52 | JMKIDD_LAB | ss1067474097 | Aug 21, 2014 (142) |
53 | JMKIDD_LAB | ss1073290517 | Aug 21, 2014 (142) |
54 | 1000GENOMES | ss1318501940 | Aug 21, 2014 (142) |
55 | EVA_GENOME_DK | ss1581480636 | Apr 01, 2015 (144) |
56 | EVA_FINRISK | ss1584042908 | Apr 01, 2015 (144) |
57 | EVA_DECODE | ss1592001622 | Apr 01, 2015 (144) |
58 | EVA_UK10K_ALSPAC | ss1614704563 | Apr 01, 2015 (144) |
59 | EVA_UK10K_TWINSUK | ss1657698596 | Apr 01, 2015 (144) |
60 | EVA_EXAC | ss1688101770 | Apr 01, 2015 (144) |
61 | EVA_MGP | ss1711107550 | Apr 01, 2015 (144) |
62 | EVA_SVP | ss1712825730 | Apr 01, 2015 (144) |
63 | ILLUMINA | ss1752566079 | Sep 08, 2015 (146) |
64 | ILLUMINA | ss1752566080 | Sep 08, 2015 (146) |
65 | ILLUMINA | ss1917797883 | Feb 12, 2016 (147) |
66 | WEILL_CORNELL_DGM | ss1925709910 | Feb 12, 2016 (147) |
67 | ILLUMINA | ss1946164093 | Feb 12, 2016 (147) |
68 | ILLUMINA | ss1958850386 | Feb 12, 2016 (147) |
69 | GENOMED | ss1970281622 | Jul 19, 2016 (147) |
70 | JJLAB | ss2023469386 | Sep 14, 2016 (149) |
71 | USC_VALOUEV | ss2151629090 | Dec 20, 2016 (150) |
72 | HUMAN_LONGEVITY | ss2280846423 | Dec 20, 2016 (150) |
73 | SYSTEMSBIOZJU | ss2626222402 | Nov 08, 2017 (151) |
74 | ILLUMINA | ss2634382460 | Nov 08, 2017 (151) |
75 | ILLUMINA | ss2635152483 | Nov 08, 2017 (151) |
76 | GRF | ss2707208697 | Nov 08, 2017 (151) |
77 | ILLUMINA | ss2711056412 | Nov 08, 2017 (151) |
78 | GNOMAD | ss2735450559 | Nov 08, 2017 (151) |
79 | GNOMAD | ss2747518595 | Nov 08, 2017 (151) |
80 | GNOMAD | ss2834456355 | Nov 08, 2017 (151) |
81 | AFFY | ss2985349035 | Nov 08, 2017 (151) |
82 | SWEGEN | ss2998312994 | Nov 08, 2017 (151) |
83 | ILLUMINA | ss3022561128 | Nov 08, 2017 (151) |
84 | EVA_SAMSUNG_MC | ss3023061679 | Nov 08, 2017 (151) |
85 | BIOINF_KMB_FNS_UNIBA | ss3025517184 | Nov 08, 2017 (151) |
86 | CSHL | ss3346773740 | Nov 08, 2017 (151) |
87 | ILLUMINA | ss3629414574 | Oct 12, 2018 (152) |
88 | ILLUMINA | ss3629414575 | Oct 12, 2018 (152) |
89 | ILLUMINA | ss3632303679 | Oct 12, 2018 (152) |
90 | ILLUMINA | ss3633401462 | Oct 12, 2018 (152) |
91 | ILLUMINA | ss3634123174 | Oct 12, 2018 (152) |
92 | ILLUMINA | ss3635038015 | Oct 12, 2018 (152) |
93 | ILLUMINA | ss3635038016 | Oct 12, 2018 (152) |
94 | ILLUMINA | ss3635804631 | Oct 12, 2018 (152) |
95 | ILLUMINA | ss3636752019 | Oct 12, 2018 (152) |
96 | ILLUMINA | ss3637557328 | Oct 12, 2018 (152) |
97 | ILLUMINA | ss3638599526 | Oct 12, 2018 (152) |
98 | ILLUMINA | ss3640745309 | Oct 12, 2018 (152) |
99 | ILLUMINA | ss3640745310 | Oct 12, 2018 (152) |
100 | ILLUMINA | ss3643541904 | Oct 12, 2018 (152) |
101 | ILLUMINA | ss3644897154 | Oct 12, 2018 (152) |
102 | OMUKHERJEE_ADBS | ss3646328421 | Oct 12, 2018 (152) |
103 | ILLUMINA | ss3653068248 | Oct 12, 2018 (152) |
104 | ILLUMINA | ss3654117461 | Oct 12, 2018 (152) |
105 | EGCUT_WGS | ss3666246375 | Jul 13, 2019 (153) |
106 | EVA_DECODE | ss3716339155 | Jul 13, 2019 (153) |
107 | ILLUMINA | ss3726298968 | Jul 13, 2019 (153) |
108 | ACPOP | ss3733094654 | Jul 13, 2019 (153) |
109 | ILLUMINA | ss3744544168 | Jul 13, 2019 (153) |
110 | ILLUMINA | ss3745338156 | Jul 13, 2019 (153) |
111 | ILLUMINA | ss3745338157 | Jul 13, 2019 (153) |
112 | EVA | ss3764462296 | Jul 13, 2019 (153) |
113 | PAGE_CC | ss3771253258 | Jul 13, 2019 (153) |
114 | ILLUMINA | ss3772832014 | Jul 13, 2019 (153) |
115 | ILLUMINA | ss3772832015 | Jul 13, 2019 (153) |
116 | KHV_HUMAN_GENOMES | ss3807623356 | Jul 13, 2019 (153) |
117 | EVA | ss3824143565 | Apr 26, 2020 (154) |
118 | EVA | ss3825522927 | Apr 26, 2020 (154) |
119 | EVA | ss3825539007 | Apr 26, 2020 (154) |
120 | EVA | ss3825686727 | Apr 26, 2020 (154) |
121 | EVA | ss3829665898 | Apr 26, 2020 (154) |
122 | EVA | ss3838306307 | Apr 26, 2020 (154) |
123 | EVA | ss3843749505 | Apr 26, 2020 (154) |
124 | SGDP_PRJ | ss3863650545 | Apr 26, 2020 (154) |
125 | KRGDB | ss3910371454 | Apr 26, 2020 (154) |
126 | KOGIC | ss3958258730 | Apr 26, 2020 (154) |
127 | FSA-LAB | ss3984324561 | Apr 26, 2021 (155) |
128 | FSA-LAB | ss3984324562 | Apr 26, 2021 (155) |
129 | EVA | ss3984559445 | Apr 26, 2021 (155) |
130 | EVA | ss3985191588 | Apr 26, 2021 (155) |
131 | EVA | ss3986032819 | Apr 26, 2021 (155) |
132 | EVA | ss3986330458 | Apr 26, 2021 (155) |
133 | TOPMED | ss4689857250 | Apr 26, 2021 (155) |
134 | TOMMO_GENOMICS | ss5175606756 | Apr 26, 2021 (155) |
135 | EVA | ss5237018514 | Apr 26, 2021 (155) |
136 | EVA | ss5237644857 | Oct 17, 2022 (156) |
137 | 1000G_HIGH_COVERAGE | ss5266975713 | Oct 17, 2022 (156) |
138 | TRAN_CS_UWATERLOO | ss5314414650 | Oct 17, 2022 (156) |
139 | EVA | ss5315111282 | Oct 17, 2022 (156) |
140 | EVA | ss5363050144 | Oct 17, 2022 (156) |
141 | CSS-BFX | ss5442108611 | Oct 17, 2022 (156) |
142 | HUGCELL_USP | ss5464822047 | Oct 17, 2022 (156) |
143 | 1000G_HIGH_COVERAGE | ss5552205776 | Oct 17, 2022 (156) |
144 | EVA | ss5624153050 | Oct 17, 2022 (156) |
145 | SANFORD_IMAGENETICS | ss5639523305 | Oct 17, 2022 (156) |
146 | TOMMO_GENOMICS | ss5713107372 | Oct 17, 2022 (156) |
147 | EVA | ss5799672000 | Oct 17, 2022 (156) |
148 | YY_MCH | ss5807042088 | Oct 17, 2022 (156) |
149 | EVA | ss5836083524 | Oct 17, 2022 (156) |
150 | EVA | ss5848076101 | Oct 17, 2022 (156) |
151 | EVA | ss5848641862 | Oct 17, 2022 (156) |
152 | EVA | ss5855149467 | Oct 17, 2022 (156) |
153 | EVA | ss5897629655 | Oct 17, 2022 (156) |
154 | EVA | ss5935790524 | Oct 17, 2022 (156) |
155 | EVA | ss5968020759 | Oct 17, 2022 (156) |
156 | EVA | ss5981232138 | Oct 17, 2022 (156) |
157 | 1000Genomes | NC_000005.9 - 176516631 | Oct 12, 2018 (152) |
158 | 1000Genomes_30x | NC_000005.10 - 177089630 | Oct 17, 2022 (156) |
159 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 176516631 | Oct 12, 2018 (152) |
160 | Genetic variation in the Estonian population | NC_000005.9 - 176516631 | Oct 12, 2018 (152) |
161 | ExAC | NC_000005.9 - 176516631 | Oct 12, 2018 (152) |
162 | FINRISK | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
163 | The Danish reference pan genome | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
164 | gnomAD - Genomes | NC_000005.10 - 177089630 | Apr 26, 2021 (155) |
165 | gnomAD - Exomes | NC_000005.9 - 176516631 | Jul 13, 2019 (153) |
166 | GO Exome Sequencing Project | NC_000005.9 - 176516631 | Oct 12, 2018 (152) |
167 | Genome of the Netherlands Release 5 | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
168 | HapMap | NC_000005.10 - 177089630 | Apr 26, 2020 (154) |
169 | KOREAN population from KRGDB | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
170 | Korean Genome Project | NC_000005.10 - 177089630 | Apr 26, 2020 (154) |
171 | Medical Genome Project healthy controls from Spanish population | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
172 | Northern Sweden | NC_000005.9 - 176516631 | Jul 13, 2019 (153) |
173 | The PAGE Study | NC_000005.10 - 177089630 | Jul 13, 2019 (153) |
174 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 176516631 | Apr 26, 2021 (155) |
175 | CNV burdens in cranial meningiomas | NC_000005.9 - 176516631 | Apr 26, 2021 (155) |
176 | Qatari | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
177 | SGDP_PRJ | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
178 | Siberian | NC_000005.9 - 176516631 | Apr 26, 2020 (154) |
179 | 8.3KJPN | NC_000005.9 - 176516631 | Apr 26, 2021 (155) |
180 | 14KJPN | NC_000005.10 - 177089630 | Oct 17, 2022 (156) |
181 | TopMed | NC_000005.10 - 177089630 | Apr 26, 2021 (155) |
182 | UK 10K study - Twins | NC_000005.9 - 176516631 | Oct 12, 2018 (152) |
183 | A Vietnamese Genetic Variation Database | NC_000005.9 - 176516631 | Jul 13, 2019 (153) |
184 | ALFA | NC_000005.10 - 177089630 | Apr 26, 2021 (155) |
185 | ClinVar | RCV001713551.1 | Oct 17, 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) |
---|---|
rs2230268 | Mar 10, 2006 (126) |
rs17839798 | Oct 08, 2004 (123) |
rs59346453 | May 25, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss78044640, ss81662206, ss81720438, ss109657584, ss113725431, ss162929649, ss166331128, ss167402110, ss206827731, ss253964059, ss278603361, ss293529157, ss480362342, ss491878552, ss1592001622, ss1712825730, ss2635152483, ss3643541904 | NC_000005.8:176449236:G:A | NC_000005.10:177089629:G:A | (self) |
30226104, 16829983, 11984623, 8115907, 39369, 7645575, 4584871, 601637, 7468015, 17548848, 223310, 6379519, 417515, 108819, 7751840, 15667525, 4145444, 33576063, 16829983, 3727876, ss222141022, ss233273926, ss240370452, ss342197885, ss480374438, ss481144968, ss484978747, ss490916940, ss491376018, ss537015791, ss652829542, ss778698135, ss780844277, ss782935678, ss783527730, ss783898402, ss832191189, ss834157001, ss982457399, ss1067474097, ss1073290517, ss1318501940, ss1581480636, ss1584042908, ss1614704563, ss1657698596, ss1688101770, ss1711107550, ss1752566079, ss1752566080, ss1917797883, ss1925709910, ss1946164093, ss1958850386, ss1970281622, ss2023469386, ss2151629090, ss2626222402, ss2634382460, ss2707208697, ss2711056412, ss2735450559, ss2747518595, ss2834456355, ss2985349035, ss2998312994, ss3022561128, ss3023061679, ss3346773740, ss3629414574, ss3629414575, ss3632303679, ss3633401462, ss3634123174, ss3635038015, ss3635038016, ss3635804631, ss3636752019, ss3637557328, ss3638599526, ss3640745309, ss3640745310, ss3644897154, ss3646328421, ss3653068248, ss3654117461, ss3666246375, ss3733094654, ss3744544168, ss3745338156, ss3745338157, ss3764462296, ss3772832014, ss3772832015, ss3824143565, ss3825522927, ss3825539007, ss3825686727, ss3829665898, ss3838306307, ss3863650545, ss3910371454, ss3984324561, ss3984324562, ss3984559445, ss3985191588, ss3986032819, ss3986330458, ss5175606756, ss5315111282, ss5363050144, ss5442108611, ss5624153050, ss5639523305, ss5799672000, ss5836083524, ss5848076101, ss5848641862, ss5935790524, ss5968020759, ss5981232138 | NC_000005.9:176516630:G:A | NC_000005.10:177089629:G:A | (self) |
RCV001713551.1, 39731711, 213762077, 3035302, 14636731, 474727, 46944476, 527234807, 11655064266, ss2280846423, ss3025517184, ss3716339155, ss3726298968, ss3771253258, ss3807623356, ss3843749505, ss3958258730, ss4689857250, ss5237018514, ss5237644857, ss5266975713, ss5314414650, ss5464822047, ss5552205776, ss5713107372, ss5807042088, ss5855149467, ss5897629655 | NC_000005.10:177089629:G:A | NC_000005.10:177089629:G:A | (self) |
ss20237959 | NT_023133.11:21326216:G:A | NC_000005.10:177089629:G:A | (self) |
ss52062926 | NT_023133.12:21326216:G:A | NC_000005.10:177089629:G:A | (self) |
ss2869787, ss4045512, ss4384115, ss16249985, ss28459144, ss42446688, ss48534085, ss65726035, ss68960615, ss71640779, ss74904023, ss86237166, ss104267606, ss159710907, ss160482396, ss173015979 | NT_023133.13:21327903:G:A | NC_000005.10:177089629:G:A | (self) |
17548848, ss3910371454 | NC_000005.9:176516630:G:C | NC_000005.10:177089629:G:C | (self) |
17548848, ss2735450559, ss3910371454 | NC_000005.9:176516630:G:T | NC_000005.10:177089629:G:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
18762813 | Association of FGFR4 genetic polymorphisms with prostate cancer risk and prognosis. | FitzGerald LM et al. | 2009 | Prostate cancer and prostatic diseases |
19500394 | Genetic variants in FGFR2 and FGFR4 genes and skin cancer risk in the Nurses' Health Study. | Nan H et al. | 2009 | BMC cancer |
20691689 | Chenodeoxycholate in females with irritable bowel syndrome-constipation: a pharmacodynamic and pharmacogenetic analysis. | Rao AS et al. | 2010 | Gastroenterology |
21108794 | Systematic detection of putative tumor suppressor genes through the combined use of exome and transcriptome sequencing. | Zhao Q et al. | 2010 | Genome biology |
21396369 | A Klothoβ variant mediates protein stability and associates with colon transit in irritable bowel syndrome with diarrhea. | Wong BS et al. | 2011 | Gastroenterology |
22271411 | Pharmacogenetics of the effects of colesevelam on colonic transit in irritable bowel syndrome with diarrhea. | Wong BS et al. | 2012 | Digestive diseases and sciences |
22610000 | Increased bile acid biosynthesis is associated with irritable bowel syndrome with diarrhea. | Wong BS et al. | 2012 | Clinical gastroenterology and hepatology |
24200957 | Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit. | Camilleri M et al. | 2014 | American journal of physiology. Gastrointestinal and liver physiology |
25860955 | Fibroblast growth factor receptor 4 polymorphism is associated with liver cirrhosis in hepatocarcinoma. | Sheu MJ et al. | 2015 | PloS one |
25918262 | Bile Acid diarrhea: prevalence, pathogenesis, and therapy. | Camilleri M et al. | 2015 | Gut and liver |
26069105 | Polymorphisms of FGFR1 in HBV-related hepatocellular carcinoma. | Xie H et al. | 2015 | Tumour biology |
26431494 | Association of FGFR3 and FGFR4 gene polymorphisms with breast cancer in Chinese women of Heilongjiang province. | Jiang Y et al. | 2015 | Oncotarget |
27640814 | Prognostic significance of fibroblast growth factor receptor 4 polymorphisms on biochemical recurrence after radical prostatectomy in a Chinese population. | Chen L et al. | 2016 | Scientific reports |
28378614 | Association of Fibroblast Growth Factor Receptor 4 Genetic Polymorphisms With the Development of Uterine Cervical Cancer and Patient Prognosis. | Chen TH et al. | 2018 | Reproductive sciences (Thousand Oaks, Calif.) |
29221201 | Functional FGFR4 Gly388Arg polymorphism contributes to oral squamous cell carcinoma susceptibility. | Chou CH et al. | 2017 | Oncotarget |
29603419 | Prognostic implications of fibroblast growth factor receptor 4 polymorphisms in primary breast cancer. | Wei W et al. | 2018 | Molecular carcinogenesis |
30359238 | Effects of FGFR gene polymorphisms on response and toxicity of cyclophosphamide-epirubicin-docetaxel-based chemotherapy in breast cancer patients. | Chen L et al. | 2018 | BMC cancer |
31878098 | Involvement of FGFR4 Gene Variants on the Clinicopathological Severity in Urothelial Cell Carcinoma. | Tsay MD et al. | 2019 | International journal of environmental research and public health |
32781755 | FGFR4 Gene Polymorphism Reduces the Risk of Distant Metastasis in Lung Adenocarcinoma in Taiwan. | Li JP et al. | 2020 | International journal of environmental research and public health |
33017009 | An updated meta-analysis of the association between fibroblast growth factor receptor 4 polymorphisms and susceptibility to cancer. | Moazeni-Roodi A et al. | 2020 | Bioscience reports |
33081025 | The FGF/FGFR System in Breast Cancer: Oncogenic Features and Therapeutic Perspectives. | Santolla MF et al. | 2020 | Cancers |
34071523 | Impact of FGFR4 Gene Polymorphism on the Progression of Colorectal Cancer. | Shiu BH et al. | 2021 | Diagnostics (Basel, Switzerland) |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.