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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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

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rs1489876452

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:38411694 (GRCh38.p14) Help

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Alleles
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IGFBPL1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

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Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000 1.0 0.0 0.0 N/A


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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 A=0.000004
Allele Frequency Aggregator Total Global 14050 C=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00
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Genomic Placements
Sequence name Change
GRCh38.p14 chr 9 NC_000009.12:g.38411694C>A
GRCh37.p13 chr 9 NC_000009.11:g.38411691C>A
Gene: IGFBPL1, insulin like growth factor binding protein like 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IGFBPL1 transcript NM_001007563.3:c.688-145G…

NM_001007563.3:c.688-145G>T

 		N/A Intron Variant
IGFBPL1 transcript variant X1 XM_017014699.2:c. N/A Genic Downstream Transcript Variant
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Not Reported in ClinVar
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Placement C= A
GRCh38.p14 chr 9 NC_000009.12:g.38411694= NC_000009.12:g.38411694C>A
GRCh37.p13 chr 9 NC_000009.11:g.38411691= NC_000009.11:g.38411691C>A
IGFBPL1 transcript NM_001007563.2:c.688-145= NM_001007563.2:c.688-145G>T
IGFBPL1 transcript NM_001007563.3:c.688-145= NM_001007563.3:c.688-145G>T
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1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss4820536902 Apr 26, 2021 (155)
2 TopMed NC_000009.12 - 38411694 Apr 26, 2021 (155)
3 ALFA NC_000009.12 - 38411694 Apr 26, 2021 (155)
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Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
657914463, 14243079431, ss4820536902 NC_000009.12:38411693:C:A NC_000009.12:38411693:C:A (self)
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No publications for rs1489876452

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Genome context:
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Genomic regions, transcripts, and products
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Software version is: 2.0.1.post820+afb47a3d