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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.

rs1489703899

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:21383575 (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=0.000013 (2/155322, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GREB1L : Synonymous Variant
LOC101927521 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 155322 C=0.999987 T=0.000013
gnomAD - Exomes European Sub 77352 C=1.00000 T=0.00000
gnomAD - Exomes Asian Sub 33160 C=0.99994 T=0.00006
gnomAD - Exomes American Sub 24088 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 8466 C=1.0000 T=0.0000
gnomAD - Exomes African Sub 7914 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 4342 C=1.0000 T=0.0000
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 18 NC_000018.10:g.21383575C>T
GRCh37.p13 chr 18 NC_000018.9:g.18963536C>T
Gene: GREB1L, GREB1 like retinoic acid receptor coactivator (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GREB1L transcript variant 2 NM_001142966.3:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform 2 NP_001136438.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X1 XM_047437809.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X1 XP_047293765.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X2 XM_047437810.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X1 XP_047293766.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X3 XM_017025989.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X1 XP_016881478.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X4 XM_017025990.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X2 XP_016881479.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X5 XM_017025991.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X3 XP_016881480.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X6 XM_047437811.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X4 XP_047293767.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X7 XM_006722547.4:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X5 XP_006722610.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X8 XM_047437812.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X6 XP_047293768.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X8 XM_047437813.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X6 XP_047293769.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X9 XM_017025993.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X6 XP_016881482.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X10 XM_047437814.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X6 XP_047293770.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X11 XM_047437815.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X7 XP_047293771.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X12 XM_047437816.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X8 XP_047293772.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X13 XM_047437817.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X9 XP_047293773.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X14 XM_047437818.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X10 XP_047293774.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X15 XM_047437819.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X10 XP_047293775.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X16 XM_011526179.4:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X11 XP_011524481.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X17 XM_017025994.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X12 XP_016881483.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X18 XM_047437820.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X12 XP_047293776.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X19 XM_017025995.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X13 XP_016881484.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X20 XM_047437821.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X14 XP_047293777.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X21 XM_017025996.2:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X15 XP_016881485.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X22 XM_047437822.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X15 XP_047293778.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X24 XM_047437823.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X17 XP_047293779.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X23 XM_047437824.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X16 XP_047293780.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X24 XM_047437825.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X17 XP_047293781.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X25 XM_047437826.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X18 XP_047293782.1:p.His19= H (His) > H (His) Synonymous Variant
GREB1L transcript variant X26 XM_047437827.1:c.57C>T H [CAC] > H [CAT] Coding Sequence Variant
GREB1-like protein isoform X19 XP_047293783.1:p.His19= H (His) > H (His) Synonymous Variant
Gene: LOC101927521, uncharacterized LOC101927521 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101927521 transcript variant X2 XR_001753366.2:n. N/A Intron Variant
LOC101927521 transcript variant X3 XR_001753367.2:n. N/A Intron Variant
LOC101927521 transcript variant X1 XR_935272.3:n. N/A Intron 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 18 NC_000018.10:g.21383575= NC_000018.10:g.21383575C>T
GRCh37.p13 chr 18 NC_000018.9:g.18963536= NC_000018.9:g.18963536C>T
GREB1L transcript variant X7 XM_006722547.4:c.57= XM_006722547.4:c.57C>T
GREB1L transcript variant X5 XM_006722547.3:c.57= XM_006722547.3:c.57C>T
GREB1L transcript variant X5 XM_006722547.2:c.57= XM_006722547.2:c.57C>T
GREB1L transcript variant X1 XM_006722547.1:c.57= XM_006722547.1:c.57C>T
GREB1L transcript variant X16 XM_011526179.4:c.57= XM_011526179.4:c.57C>T
GREB1L transcript variant X8 XM_011526179.3:c.57= XM_011526179.3:c.57C>T
GREB1L transcript variant X8 XM_011526179.2:c.57= XM_011526179.2:c.57C>T
GREB1L transcript variant X5 XM_011526179.1:c.57= XM_011526179.1:c.57C>T
GREB1L transcript variant 2 NM_001142966.3:c.57= NM_001142966.3:c.57C>T
GREB1L transcript NM_001142966.2:c.57= NM_001142966.2:c.57C>T
GREB1L transcript NM_001142966.1:c.57= NM_001142966.1:c.57C>T
GREB1L transcript variant X4 XM_017025990.2:c.57= XM_017025990.2:c.57C>T
GREB1L transcript variant X3 XM_017025990.1:c.57= XM_017025990.1:c.57C>T
GREB1L transcript variant X5 XM_017025991.2:c.57= XM_017025991.2:c.57C>T
GREB1L transcript variant X4 XM_017025991.1:c.57= XM_017025991.1:c.57C>T
GREB1L transcript variant X3 XM_017025989.2:c.57= XM_017025989.2:c.57C>T
GREB1L transcript variant X2 XM_017025989.1:c.57= XM_017025989.1:c.57C>T
GREB1L transcript variant X9 XM_017025993.2:c.57= XM_017025993.2:c.57C>T
GREB1L transcript variant X7 XM_017025993.1:c.57= XM_017025993.1:c.57C>T
GREB1L transcript variant X17 XM_017025994.2:c.57= XM_017025994.2:c.57C>T
GREB1L transcript variant X9 XM_017025994.1:c.57= XM_017025994.1:c.57C>T
GREB1L transcript variant X19 XM_017025995.2:c.57= XM_017025995.2:c.57C>T
GREB1L transcript variant X10 XM_017025995.1:c.57= XM_017025995.1:c.57C>T
GREB1L transcript variant X21 XM_017025996.2:c.57= XM_017025996.2:c.57C>T
GREB1L transcript variant X11 XM_017025996.1:c.57= XM_017025996.1:c.57C>T
KIAA1772 transcript NM_024935.2:c.57= NM_024935.2:c.57C>T
GREB1L transcript variant X8 XM_047437812.1:c.57= XM_047437812.1:c.57C>T
GREB1L transcript variant 1 NM_001410867.1:c.57= NM_001410867.1:c.57C>T
GREB1L transcript variant X12 XM_047437816.1:c.57= XM_047437816.1:c.57C>T
GREB1L transcript variant X15 XM_047437819.1:c.57= XM_047437819.1:c.57C>T
GREB1L transcript variant X14 XM_047437818.1:c.57= XM_047437818.1:c.57C>T
GREB1L transcript variant X20 XM_047437821.1:c.57= XM_047437821.1:c.57C>T
GREB1L transcript variant X24 XM_047437823.1:c.57= XM_047437823.1:c.57C>T
GREB1L transcript variant 3 NM_001410868.1:c.57= NM_001410868.1:c.57C>T
GREB1L transcript variant X2 XM_047437810.1:c.57= XM_047437810.1:c.57C>T
GREB1L transcript variant X1 XM_047437809.1:c.57= XM_047437809.1:c.57C>T
GREB1L transcript variant X10 XM_047437814.1:c.57= XM_047437814.1:c.57C>T
GREB1L transcript variant X6 XM_047437811.1:c.57= XM_047437811.1:c.57C>T
GREB1L transcript variant X8 XM_047437813.1:c.57= XM_047437813.1:c.57C>T
GREB1L transcript variant X11 XM_047437815.1:c.57= XM_047437815.1:c.57C>T
GREB1L transcript variant X13 XM_047437817.1:c.57= XM_047437817.1:c.57C>T
GREB1L transcript variant X18 XM_047437820.1:c.57= XM_047437820.1:c.57C>T
GREB1L transcript variant X22 XM_047437822.1:c.57= XM_047437822.1:c.57C>T
GREB1L transcript variant X23 XM_047437824.1:c.57= XM_047437824.1:c.57C>T
GREB1L transcript variant X24 XM_047437825.1:c.57= XM_047437825.1:c.57C>T
GREB1L transcript variant X25 XM_047437826.1:c.57= XM_047437826.1:c.57C>T
GREB1L transcript variant X26 XM_047437827.1:c.57= XM_047437827.1:c.57C>T
GREB1-like protein isoform X5 XP_006722610.1:p.His19= XP_006722610.1:p.His19=
GREB1-like protein isoform X11 XP_011524481.1:p.His19= XP_011524481.1:p.His19=
GREB1-like protein isoform 2 NP_001136438.1:p.His19= NP_001136438.1:p.His19=
GREB1-like protein isoform X2 XP_016881479.1:p.His19= XP_016881479.1:p.His19=
GREB1-like protein isoform X3 XP_016881480.1:p.His19= XP_016881480.1:p.His19=
GREB1-like protein isoform X1 XP_016881478.1:p.His19= XP_016881478.1:p.His19=
GREB1-like protein isoform X6 XP_016881482.1:p.His19= XP_016881482.1:p.His19=
GREB1-like protein isoform X12 XP_016881483.1:p.His19= XP_016881483.1:p.His19=
GREB1-like protein isoform X13 XP_016881484.1:p.His19= XP_016881484.1:p.His19=
GREB1-like protein isoform X15 XP_016881485.1:p.His19= XP_016881485.1:p.His19=
GREB1-like protein isoform X6 XP_047293768.1:p.His19= XP_047293768.1:p.His19=
GREB1-like protein isoform X8 XP_047293772.1:p.His19= XP_047293772.1:p.His19=
GREB1-like protein isoform X10 XP_047293775.1:p.His19= XP_047293775.1:p.His19=
GREB1-like protein isoform X10 XP_047293774.1:p.His19= XP_047293774.1:p.His19=
GREB1-like protein isoform X14 XP_047293777.1:p.His19= XP_047293777.1:p.His19=
GREB1-like protein isoform X17 XP_047293779.1:p.His19= XP_047293779.1:p.His19=
GREB1-like protein isoform X1 XP_047293766.1:p.His19= XP_047293766.1:p.His19=
GREB1-like protein isoform X1 XP_047293765.1:p.His19= XP_047293765.1:p.His19=
GREB1-like protein isoform X6 XP_047293770.1:p.His19= XP_047293770.1:p.His19=
GREB1-like protein isoform X4 XP_047293767.1:p.His19= XP_047293767.1:p.His19=
GREB1-like protein isoform X6 XP_047293769.1:p.His19= XP_047293769.1:p.His19=
GREB1-like protein isoform X7 XP_047293771.1:p.His19= XP_047293771.1:p.His19=
GREB1-like protein isoform X9 XP_047293773.1:p.His19= XP_047293773.1:p.His19=
GREB1-like protein isoform X12 XP_047293776.1:p.His19= XP_047293776.1:p.His19=
GREB1-like protein isoform X15 XP_047293778.1:p.His19= XP_047293778.1:p.His19=
GREB1-like protein isoform X16 XP_047293780.1:p.His19= XP_047293780.1:p.His19=
GREB1-like protein isoform X17 XP_047293781.1:p.His19= XP_047293781.1:p.His19=
GREB1-like protein isoform X18 XP_047293782.1:p.His19= XP_047293782.1:p.His19=
GREB1-like protein isoform X19 XP_047293783.1:p.His19= XP_047293783.1:p.His19=
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2743214174 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000018.9 - 18963536 Jul 13, 2019 (153)
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
12524070, ss2743214174 NC_000018.9:18963535:C:T NC_000018.10:21383574: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 rs1489703899

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