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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.

rs1491387578

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:67895332-67895333 (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
delCA
Variation Type
Deletion
Frequency
delCA=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BPTF : Intron 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 11862 CA=1.00000 =0.00000 1.0 0.0 0.0 N/A
European Sub 7618 CA=1.0000 =0.0000 1.0 0.0 0.0 N/A
African Sub 2816 CA=1.0000 =0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 CA=1.000 =0.000 1.0 0.0 0.0 N/A
African American Sub 2708 CA=1.0000 =0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 CA=1.000 =0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 CA=1.00 =0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 CA=1.00 =0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 CA=1.000 =0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 CA=1.000 =0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 CA=1.00 =0.00 1.0 0.0 0.0 N/A
Other Sub 470 CA=1.000 =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
Allele Frequency Aggregator Total Global 11862 CA=1.00000 delCA=0.00000
Allele Frequency Aggregator European Sub 7618 CA=1.0000 delCA=0.0000
Allele Frequency Aggregator African Sub 2816 CA=1.0000 delCA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 CA=1.000 delCA=0.000
Allele Frequency Aggregator Other Sub 470 CA=1.000 delCA=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 CA=1.000 delCA=0.000
Allele Frequency Aggregator Asian Sub 108 CA=1.000 delCA=0.000
Allele Frequency Aggregator South Asian Sub 94 CA=1.00 delCA=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 17 NC_000017.11:g.67895332_67895333del
GRCh37.p13 chr 17 NC_000017.10:g.65891448_65891449del
BPTF RefSeqGene NG_052828.1:g.74816_74817del
Gene: BPTF, bromodomain PHD finger transcription factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BPTF transcript variant 2 NM_004459.7:c.2921+1167_2…

NM_004459.7:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant 1 NM_182641.4:c.2543+1167_2…

NM_182641.4:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X1 XM_005257150.4:c.2921+116…

XM_005257150.4:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X3 XM_005257151.4:c.2918+116…

XM_005257151.4:c.2918+1167_2918+1168del

N/A Intron Variant
BPTF transcript variant X4 XM_005257152.4:c.2921+116…

XM_005257152.4:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X5 XM_005257153.4:c.2921+116…

XM_005257153.4:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X6 XM_005257154.4:c.2921+116…

XM_005257154.4:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X7 XM_005257155.4:c.2732+116…

XM_005257155.4:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X8 XM_005257156.4:c.2732+116…

XM_005257156.4:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X10 XM_005257157.4:c.2729+116…

XM_005257157.4:c.2729+1167_2729+1168del

N/A Intron Variant
BPTF transcript variant X18 XM_005257158.4:c.2543+116…

XM_005257158.4:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X20 XM_005257159.3:c.2921+116…

XM_005257159.3:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X26 XM_005257160.3:c.2921+116…

XM_005257160.3:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X27 XM_005257161.4:c.2921+116…

XM_005257161.4:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X2 XM_011524520.3:c.2918+116…

XM_011524520.3:c.2918+1167_2918+1168del

N/A Intron Variant
BPTF transcript variant X19 XM_011524522.3:c.2540+116…

XM_011524522.3:c.2540+1167_2540+1168del

N/A Intron Variant
BPTF transcript variant X25 XM_011524523.3:c.2540+116…

XM_011524523.3:c.2540+1167_2540+1168del

N/A Intron Variant
BPTF transcript variant X47 XM_011524525.3:c.2540+116…

XM_011524525.3:c.2540+1167_2540+1168del

N/A Intron Variant
BPTF transcript variant X48 XM_011524526.3:c.2540+116…

XM_011524526.3:c.2540+1167_2540+1168del

N/A Intron Variant
BPTF transcript variant X12 XM_017024353.3:c.2921+116…

XM_017024353.3:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X43 XM_017024354.3:c.428+1167…

XM_017024354.3:c.428+1167_428+1168del

N/A Intron Variant
BPTF transcript variant X11 XM_024450646.2:c.2729+116…

XM_024450646.2:c.2729+1167_2729+1168del

N/A Intron Variant
BPTF transcript variant X21 XM_024450647.2:c.2921+116…

XM_024450647.2:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X9 XM_047435596.1:c.2921+116…

XM_047435596.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X13 XM_047435597.1:c.2921+116…

XM_047435597.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X14 XM_047435598.1:c.2732+116…

XM_047435598.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X15 XM_047435599.1:c.2732+116…

XM_047435599.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X16 XM_047435600.1:c.2729+116…

XM_047435600.1:c.2729+1167_2729+1168del

N/A Intron Variant
BPTF transcript variant X17 XM_047435601.1:c.2921+116…

XM_047435601.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X22 XM_047435602.1:c.2732+116…

XM_047435602.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X23 XM_047435603.1:c.2732+116…

XM_047435603.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X24 XM_047435604.1:c.2543+116…

XM_047435604.1:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X28 XM_047435605.1:c.2732+116…

XM_047435605.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X29 XM_047435606.1:c.2921+116…

XM_047435606.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X30 XM_047435607.1:c.2921+116…

XM_047435607.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X31 XM_047435608.1:c.2543+116…

XM_047435608.1:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X32 XM_047435609.1:c.2732+116…

XM_047435609.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X33 XM_047435610.1:c.2732+116…

XM_047435610.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X34 XM_047435611.1:c.2729+116…

XM_047435611.1:c.2729+1167_2729+1168del

N/A Intron Variant
BPTF transcript variant X35 XM_047435612.1:c.2921+116…

XM_047435612.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X36 XM_047435613.1:c.2543+116…

XM_047435613.1:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X37 XM_047435614.1:c.2732+116…

XM_047435614.1:c.2732+1167_2732+1168del

N/A Intron Variant
BPTF transcript variant X38 XM_047435615.1:c.2543+116…

XM_047435615.1:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X39 XM_047435616.1:c.2540+116…

XM_047435616.1:c.2540+1167_2540+1168del

N/A Intron Variant
BPTF transcript variant X40 XM_047435617.1:c.2543+116…

XM_047435617.1:c.2543+1167_2543+1168del

N/A Intron Variant
BPTF transcript variant X41 XM_047435618.1:c.2921+116…

XM_047435618.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X42 XM_047435619.1:c.2921+116…

XM_047435619.1:c.2921+1167_2921+1168del

N/A Intron Variant
BPTF transcript variant X44 XM_011524524.4:c.-3076_-3…

XM_011524524.4:c.-3076_-3075=

N/A 5 Prime UTR Variant
BPTF transcript variant X45 XM_047435620.1:c.-3076_-3…

XM_047435620.1:c.-3076_-3075=

N/A 5 Prime UTR Variant
BPTF transcript variant X46 XM_047435621.1:c.-3076_-3…

XM_047435621.1:c.-3076_-3075=

N/A 5 Prime UTR 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 CA= delCA
GRCh38.p14 chr 17 NC_000017.11:g.67895332_67895333= NC_000017.11:g.67895332_67895333del
GRCh37.p13 chr 17 NC_000017.10:g.65891448_65891449= NC_000017.10:g.65891448_65891449del
BPTF RefSeqGene NG_052828.1:g.74816_74817= NG_052828.1:g.74816_74817del
BPTF transcript variant X44 XM_011524524.4:c.-3076_-3075= XM_011524524.4:c.-3076_-3075del
BPTF transcript variant X45 XM_047435620.1:c.-3076_-3075= XM_047435620.1:c.-3076_-3075del
BPTF transcript variant X46 XM_047435621.1:c.-3076_-3075= XM_047435621.1:c.-3076_-3075del
BPTF transcript variant 2 NM_004459.6:c.2921+1167= NM_004459.6:c.2921+1167_2921+1168del
BPTF transcript variant 2 NM_004459.7:c.2921+1167= NM_004459.7:c.2921+1167_2921+1168del
BPTF transcript variant 1 NM_182641.3:c.2543+1167= NM_182641.3:c.2543+1167_2543+1168del
BPTF transcript variant 1 NM_182641.4:c.2543+1167= NM_182641.4:c.2543+1167_2543+1168del
BPTF transcript variant X1 XM_005257150.1:c.2921+1167= XM_005257150.1:c.2921+1167_2921+1168del
BPTF transcript variant X1 XM_005257150.4:c.2921+1167= XM_005257150.4:c.2921+1167_2921+1168del
BPTF transcript variant X2 XM_005257151.1:c.2918+1167= XM_005257151.1:c.2918+1167_2918+1168del
BPTF transcript variant X3 XM_005257151.4:c.2918+1167= XM_005257151.4:c.2918+1167_2918+1168del
BPTF transcript variant X4 XM_005257152.1:c.2921+1167= XM_005257152.1:c.2921+1167_2921+1168del
BPTF transcript variant X4 XM_005257152.4:c.2921+1167= XM_005257152.4:c.2921+1167_2921+1168del
BPTF transcript variant X4 XM_005257153.1:c.2921+1167= XM_005257153.1:c.2921+1167_2921+1168del
BPTF transcript variant X5 XM_005257153.4:c.2921+1167= XM_005257153.4:c.2921+1167_2921+1168del
BPTF transcript variant X5 XM_005257154.1:c.2921+1167= XM_005257154.1:c.2921+1167_2921+1168del
BPTF transcript variant X6 XM_005257154.4:c.2921+1167= XM_005257154.4:c.2921+1167_2921+1168del
BPTF transcript variant X6 XM_005257155.1:c.2732+1167= XM_005257155.1:c.2732+1167_2732+1168del
BPTF transcript variant X7 XM_005257155.4:c.2732+1167= XM_005257155.4:c.2732+1167_2732+1168del
BPTF transcript variant X7 XM_005257156.1:c.2732+1167= XM_005257156.1:c.2732+1167_2732+1168del
BPTF transcript variant X8 XM_005257156.4:c.2732+1167= XM_005257156.4:c.2732+1167_2732+1168del
BPTF transcript variant X8 XM_005257157.1:c.2729+1167= XM_005257157.1:c.2729+1167_2729+1168del
BPTF transcript variant X10 XM_005257157.4:c.2729+1167= XM_005257157.4:c.2729+1167_2729+1168del
BPTF transcript variant X9 XM_005257158.1:c.2543+1167= XM_005257158.1:c.2543+1167_2543+1168del
BPTF transcript variant X18 XM_005257158.4:c.2543+1167= XM_005257158.4:c.2543+1167_2543+1168del
BPTF transcript variant X13 XM_005257159.1:c.2921+1167= XM_005257159.1:c.2921+1167_2921+1168del
BPTF transcript variant X20 XM_005257159.3:c.2921+1167= XM_005257159.3:c.2921+1167_2921+1168del
BPTF transcript variant X15 XM_005257160.1:c.2921+1167= XM_005257160.1:c.2921+1167_2921+1168del
BPTF transcript variant X26 XM_005257160.3:c.2921+1167= XM_005257160.3:c.2921+1167_2921+1168del
BPTF transcript variant X12 XM_005257161.1:c.2921+1167= XM_005257161.1:c.2921+1167_2921+1168del
BPTF transcript variant X27 XM_005257161.4:c.2921+1167= XM_005257161.4:c.2921+1167_2921+1168del
BPTF transcript variant X13 XM_005257162.1:c.2921+1167= XM_005257162.1:c.2921+1167_2921+1168del
BPTF transcript variant X2 XM_011524520.3:c.2918+1167= XM_011524520.3:c.2918+1167_2918+1168del
BPTF transcript variant X19 XM_011524522.3:c.2540+1167= XM_011524522.3:c.2540+1167_2540+1168del
BPTF transcript variant X25 XM_011524523.3:c.2540+1167= XM_011524523.3:c.2540+1167_2540+1168del
BPTF transcript variant X47 XM_011524525.3:c.2540+1167= XM_011524525.3:c.2540+1167_2540+1168del
BPTF transcript variant X48 XM_011524526.3:c.2540+1167= XM_011524526.3:c.2540+1167_2540+1168del
BPTF transcript variant X12 XM_017024353.3:c.2921+1167= XM_017024353.3:c.2921+1167_2921+1168del
BPTF transcript variant X43 XM_017024354.3:c.428+1167= XM_017024354.3:c.428+1167_428+1168del
BPTF transcript variant X11 XM_024450646.2:c.2729+1167= XM_024450646.2:c.2729+1167_2729+1168del
BPTF transcript variant X21 XM_024450647.2:c.2921+1167= XM_024450647.2:c.2921+1167_2921+1168del
BPTF transcript variant X9 XM_047435596.1:c.2921+1167= XM_047435596.1:c.2921+1167_2921+1168del
BPTF transcript variant X13 XM_047435597.1:c.2921+1167= XM_047435597.1:c.2921+1167_2921+1168del
BPTF transcript variant X14 XM_047435598.1:c.2732+1167= XM_047435598.1:c.2732+1167_2732+1168del
BPTF transcript variant X15 XM_047435599.1:c.2732+1167= XM_047435599.1:c.2732+1167_2732+1168del
BPTF transcript variant X16 XM_047435600.1:c.2729+1167= XM_047435600.1:c.2729+1167_2729+1168del
BPTF transcript variant X17 XM_047435601.1:c.2921+1167= XM_047435601.1:c.2921+1167_2921+1168del
BPTF transcript variant X22 XM_047435602.1:c.2732+1167= XM_047435602.1:c.2732+1167_2732+1168del
BPTF transcript variant X23 XM_047435603.1:c.2732+1167= XM_047435603.1:c.2732+1167_2732+1168del
BPTF transcript variant X24 XM_047435604.1:c.2543+1167= XM_047435604.1:c.2543+1167_2543+1168del
BPTF transcript variant X28 XM_047435605.1:c.2732+1167= XM_047435605.1:c.2732+1167_2732+1168del
BPTF transcript variant X29 XM_047435606.1:c.2921+1167= XM_047435606.1:c.2921+1167_2921+1168del
BPTF transcript variant X30 XM_047435607.1:c.2921+1167= XM_047435607.1:c.2921+1167_2921+1168del
BPTF transcript variant X31 XM_047435608.1:c.2543+1167= XM_047435608.1:c.2543+1167_2543+1168del
BPTF transcript variant X32 XM_047435609.1:c.2732+1167= XM_047435609.1:c.2732+1167_2732+1168del
BPTF transcript variant X33 XM_047435610.1:c.2732+1167= XM_047435610.1:c.2732+1167_2732+1168del
BPTF transcript variant X34 XM_047435611.1:c.2729+1167= XM_047435611.1:c.2729+1167_2729+1168del
BPTF transcript variant X35 XM_047435612.1:c.2921+1167= XM_047435612.1:c.2921+1167_2921+1168del
BPTF transcript variant X36 XM_047435613.1:c.2543+1167= XM_047435613.1:c.2543+1167_2543+1168del
BPTF transcript variant X37 XM_047435614.1:c.2732+1167= XM_047435614.1:c.2732+1167_2732+1168del
BPTF transcript variant X38 XM_047435615.1:c.2543+1167= XM_047435615.1:c.2543+1167_2543+1168del
BPTF transcript variant X39 XM_047435616.1:c.2540+1167= XM_047435616.1:c.2540+1167_2540+1168del
BPTF transcript variant X40 XM_047435617.1:c.2543+1167= XM_047435617.1:c.2543+1167_2543+1168del
BPTF transcript variant X41 XM_047435618.1:c.2921+1167= XM_047435618.1:c.2921+1167_2921+1168del
BPTF transcript variant X42 XM_047435619.1:c.2921+1167= XM_047435619.1:c.2921+1167_2921+1168del
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 Frequency submission
No Submitter Submission ID Date (Build)
1 ALFA NC_000017.11 - 67895332 Apr 27, 2021 (155)
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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
257830820 NC_000017.11:67895331:CA: NC_000017.11:67895331:CA: (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491387578

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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.
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