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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.

rs1488617074

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:142600722 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000023 (6/264690, TOPMED)
T=0.000016 (4/251082, GnomAD_exome)
T=0.000036 (5/140234, GnomAD) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGF1 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


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=0.999977 T=0.000023
gnomAD - Exomes Global Study-wide 251082 C=0.999984 T=0.000016
gnomAD - Exomes European Sub 135062 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49004 C=0.99994 T=0.00006
gnomAD - Exomes American Sub 34576 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16254 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6128 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140234 C=0.999964 T=0.000036
gnomAD - Genomes European Sub 75950 C=0.99996 T=0.00004
gnomAD - Genomes African Sub 42016 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13660 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=0.9997 T=0.0003
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
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 5 NC_000005.10:g.142600722C>T
GRCh37.p13 chr 5 NC_000005.9:g.141980287C>T
Gene: FGF1, fibroblast growth factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF1 transcript variant 23 NM_001354959.2:c.170-5238…

NM_001354959.2:c.170-5238G>A

N/A Intron Variant
FGF1 transcript variant 24 NM_001354961.2:c.170-5238…

NM_001354961.2:c.170-5238G>A

N/A Intron Variant
FGF1 transcript variant 25 NM_001354962.2:c.170-5238…

NM_001354962.2:c.170-5238G>A

N/A Intron Variant
FGF1 transcript variant 26 NM_001354963.2:c.170-5238…

NM_001354963.2:c.170-5238G>A

N/A Intron Variant
FGF1 transcript variant 27 NM_001354964.2:c.170-5238…

NM_001354964.2:c.170-5238G>A

N/A Intron Variant
FGF1 transcript variant 2 NM_033136.4:c.170-5238G>A N/A Intron Variant
FGF1 transcript variant 3 NM_033137.4:c.170-5241G>A N/A Intron Variant
FGF1 transcript variant 7 NM_001257205.1:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001244134.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 11 NM_001257209.1:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001244138.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 1 NM_000800.5:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_000791.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 4 NM_001144892.3:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001138364.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 20 NM_001354956.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001341885.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 10 NM_001257208.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001244137.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 19 NM_001354955.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001341884.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 15 NM_001354951.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001341880.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 17 NM_001354953.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001341882.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 14 NM_001257212.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 4 NP_001244141.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 13 NM_001257211.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 4 NP_001244140.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 18 NM_001354954.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001341883.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 16 NM_001354952.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001341881.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 22 NM_001354958.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 4 NP_001341887.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 21 NM_001354957.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 4 NP_001341886.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 5 NM_001144934.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001138406.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 6 NM_001144935.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001138407.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 8 NM_001257206.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 4 NP_001244135.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 12 NM_001257210.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001244139.1:p.Asp85Asn D (Asp) > N (Asn) Missense Variant
FGF1 transcript variant 9 NM_001257207.2:c.253G>A D [GAC] > N [AAC] Coding Sequence Variant
fibroblast growth factor 1 isoform 1 precursor NP_001244136.1:p.Asp85Asn D (Asp) > N (Asn) 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.

Not Reported in ClinVar
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= T
GRCh38.p14 chr 5 NC_000005.10:g.142600722= NC_000005.10:g.142600722C>T
GRCh37.p13 chr 5 NC_000005.9:g.141980287= NC_000005.9:g.141980287C>T
FGF1 transcript variant 1 NM_000800.5:c.253= NM_000800.5:c.253G>A
FGF1 transcript variant 1 NM_000800.4:c.253= NM_000800.4:c.253G>A
FGF1 transcript variant 4 NM_001144892.3:c.253= NM_001144892.3:c.253G>A
FGF1 transcript variant 4 NM_001144892.2:c.253= NM_001144892.2:c.253G>A
FGF1 transcript variant 19 NM_001354955.2:c.253= NM_001354955.2:c.253G>A
FGF1 transcript variant 19 NM_001354955.1:c.253= NM_001354955.1:c.253G>A
FGF1 transcript variant 18 NM_001354954.2:c.253= NM_001354954.2:c.253G>A
FGF1 transcript variant 18 NM_001354954.1:c.253= NM_001354954.1:c.253G>A
FGF1 transcript variant 8 NM_001257206.2:c.253= NM_001257206.2:c.253G>A
FGF1 transcript variant 8 NM_001257206.1:c.253= NM_001257206.1:c.253G>A
FGF1 transcript variant 15 NM_001354951.2:c.253= NM_001354951.2:c.253G>A
FGF1 transcript variant 15 NM_001354951.1:c.253= NM_001354951.1:c.253G>A
FGF1 transcript variant 17 NM_001354953.2:c.253= NM_001354953.2:c.253G>A
FGF1 transcript variant 17 NM_001354953.1:c.253= NM_001354953.1:c.253G>A
FGF1 transcript variant 21 NM_001354957.2:c.253= NM_001354957.2:c.253G>A
FGF1 transcript variant 21 NM_001354957.1:c.253= NM_001354957.1:c.253G>A
FGF1 transcript variant 20 NM_001354956.2:c.253= NM_001354956.2:c.253G>A
FGF1 transcript variant 20 NM_001354956.1:c.253= NM_001354956.1:c.253G>A
FGF1 transcript variant 5 NM_001144934.2:c.253= NM_001144934.2:c.253G>A
FGF1 transcript variant 5 NM_001144934.1:c.253= NM_001144934.1:c.253G>A
FGF1 transcript variant 22 NM_001354958.2:c.253= NM_001354958.2:c.253G>A
FGF1 transcript variant 22 NM_001354958.1:c.253= NM_001354958.1:c.253G>A
FGF1 transcript variant 16 NM_001354952.2:c.253= NM_001354952.2:c.253G>A
FGF1 transcript variant 16 NM_001354952.1:c.253= NM_001354952.1:c.253G>A
FGF1 transcript variant 9 NM_001257207.2:c.253= NM_001257207.2:c.253G>A
FGF1 transcript variant 9 NM_001257207.1:c.253= NM_001257207.1:c.253G>A
FGF1 transcript variant 10 NM_001257208.2:c.253= NM_001257208.2:c.253G>A
FGF1 transcript variant 10 NM_001257208.1:c.253= NM_001257208.1:c.253G>A
FGF1 transcript variant 13 NM_001257211.2:c.253= NM_001257211.2:c.253G>A
FGF1 transcript variant 13 NM_001257211.1:c.253= NM_001257211.1:c.253G>A
FGF1 transcript variant 12 NM_001257210.2:c.253= NM_001257210.2:c.253G>A
FGF1 transcript variant 12 NM_001257210.1:c.253= NM_001257210.1:c.253G>A
FGF1 transcript variant 6 NM_001144935.2:c.253= NM_001144935.2:c.253G>A
FGF1 transcript variant 6 NM_001144935.1:c.253= NM_001144935.1:c.253G>A
FGF1 transcript variant 14 NM_001257212.2:c.253= NM_001257212.2:c.253G>A
FGF1 transcript variant 14 NM_001257212.1:c.253= NM_001257212.1:c.253G>A
FGF1 transcript variant 7 NR_026695.1:n.736= NR_026695.1:n.736G>A
FGF1 transcript variant 7 NM_001257205.1:c.253= NM_001257205.1:c.253G>A
FGF1 transcript variant 8 NR_026696.1:n.736= NR_026696.1:n.736G>A
FGF1 transcript variant 11 NM_001257209.1:c.253= NM_001257209.1:c.253G>A
fibroblast growth factor 1 isoform 1 precursor NP_000791.1:p.Asp85= NP_000791.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001138364.1:p.Asp85= NP_001138364.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001341884.1:p.Asp85= NP_001341884.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001341883.1:p.Asp85= NP_001341883.1:p.Asp85Asn
fibroblast growth factor 1 isoform 4 NP_001244135.1:p.Asp85= NP_001244135.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001341880.1:p.Asp85= NP_001341880.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001341882.1:p.Asp85= NP_001341882.1:p.Asp85Asn
fibroblast growth factor 1 isoform 4 NP_001341886.1:p.Asp85= NP_001341886.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001341885.1:p.Asp85= NP_001341885.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001138406.1:p.Asp85= NP_001138406.1:p.Asp85Asn
fibroblast growth factor 1 isoform 4 NP_001341887.1:p.Asp85= NP_001341887.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001341881.1:p.Asp85= NP_001341881.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001244136.1:p.Asp85= NP_001244136.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001244137.1:p.Asp85= NP_001244137.1:p.Asp85Asn
fibroblast growth factor 1 isoform 4 NP_001244140.1:p.Asp85= NP_001244140.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001244139.1:p.Asp85= NP_001244139.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001138407.1:p.Asp85= NP_001138407.1:p.Asp85Asn
fibroblast growth factor 1 isoform 4 NP_001244141.1:p.Asp85= NP_001244141.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001244134.1:p.Asp85= NP_001244134.1:p.Asp85Asn
fibroblast growth factor 1 isoform 1 precursor NP_001244138.1:p.Asp85= NP_001244138.1:p.Asp85Asn
FGF1 transcript variant 23 NM_001354959.2:c.170-5238= NM_001354959.2:c.170-5238G>A
FGF1 transcript variant 24 NM_001354961.2:c.170-5238= NM_001354961.2:c.170-5238G>A
FGF1 transcript variant 25 NM_001354962.2:c.170-5238= NM_001354962.2:c.170-5238G>A
FGF1 transcript variant 26 NM_001354963.2:c.170-5238= NM_001354963.2:c.170-5238G>A
FGF1 transcript variant 27 NM_001354964.2:c.170-5238= NM_001354964.2:c.170-5238G>A
FGF1 transcript variant 2 NM_033136.3:c.170-5238= NM_033136.3:c.170-5238G>A
FGF1 transcript variant 2 NM_033136.4:c.170-5238= NM_033136.4:c.170-5238G>A
FGF1 transcript variant 3 NM_033137.2:c.170-5241= NM_033137.2:c.170-5241G>A
FGF1 transcript variant 3 NM_033137.4:c.170-5241= NM_033137.4:c.170-5241G>A
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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2735322396 Nov 08, 2017 (151)
2 GNOMAD ss2747479667 Nov 08, 2017 (151)
3 GNOMAD ss2831648109 Nov 08, 2017 (151)
4 TOPMED ss4681375258 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000005.10 - 142600722 Apr 26, 2021 (155)
6 gnomAD - Exomes NC_000005.9 - 141980287 Jul 13, 2019 (153)
7 TopMed NC_000005.10 - 142600722 Apr 26, 2021 (155)
8 ALFA NC_000005.10 - 142600722 Apr 26, 2021 (155)
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
4452674, ss2735322396, ss2747479667, ss2831648109 NC_000005.9:141980286:C:T NC_000005.10:142600721:C:T (self)
206613285, 518752815, 10324047477, ss4681375258 NC_000005.10:142600721:C:T NC_000005.10:142600721: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 rs1488617074

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.post820+afb47a3d