Name: rs1966265
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.

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)
A=0.184760 (25876/140052, GnomAD)
A=0.240818 (28300/117516, ExAC)
A=0.20339 (16007/78700, PAGE_STUDY)
G=0.44416 (12551/28258, 14KJPN)
G=0.44594 (7474/16760, 8.3KJPN)
A=0.17077 (2221/13006, GO-ESP)
A=0.2230 (1428/6404, 1000G_30x)
A=0.2288 (1146/5008, 1000G)
A=0.2377 (1065/4480, Estonian)
A=0.2494 (961/3854, ALSPAC)
A=0.2403 (891/3708, TWINSUK)
G=0.4205 (1232/2930, KOREAN)
A=0.2103 (397/1888, HapMap)
G=0.3941 (722/1832, Korea1K)
A=0.241 (241/998, GoNL)
G=0.468 (370/790, PRJEB37584)
A=0.436 (263/603, Vietnamese)
A=0.297 (178/600, NorthernSweden)
A=0.185 (99/534, MGP)
A=0.227 (64/282, FINRISK)
G=0.377 (86/228, SGDP_PRJ)
A=0.060 (13/216, Qatari)
A=0.20 (10/50, Ancient Sardinia)
A=0.20 (8/40, GENOME_DK)
G=0.46 (12/26, Siberian)

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.

Release Version: 20230706150541

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").

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Study	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.

Genomic Placements

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

Gene: FGFR4, fibroblast growth factor receptor 4 (plus strand)

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.

Allele: A (allele ID: 1281524 )

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#.

156 SubSNP, 28 Frequency, 1 ClinVar submissions

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)

Added to this RefSNP Cluster:

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.

22 citations for rs1966265

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.

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

rs1966265