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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.

rs780020495

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:61780893 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.000020 (5/251446, GnomAD_exome)
A=0.000008 (1/121388, ExAC) (+ 2 more)
A=0.000010 (1/100660, ALFA)
A=0.00003 (2/78700, PAGE_STUDY)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRIP1 : Stop Gained
Publications
1 citation
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 100660 G=0.999990 A=0.000010
European Sub 90100 G=0.99999 A=0.00001
African Sub 3584 G=1.0000 A=0.0000
African Others Sub 138 G=1.000 A=0.000
African American Sub 3446 G=1.0000 A=0.0000
Asian Sub 3304 G=1.0000 A=0.0000
East Asian Sub 2680 G=1.0000 A=0.0000
Other Asian Sub 624 G=1.000 A=0.000
Latin American 1 Sub 436 G=1.000 A=0.000
Latin American 2 Sub 928 G=1.000 A=0.000
South Asian Sub 276 G=1.000 A=0.000
Other Sub 2032 G=1.0000 A=0.0000


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 G=0.999996 A=0.000004
gnomAD - Exomes Global Study-wide 251446 G=0.999980 A=0.000020
gnomAD - Exomes European Sub 135380 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 49006 G=0.99996 A=0.00004
gnomAD - Exomes American Sub 34592 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16254 G=0.99994 A=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6136 G=1.0000 A=0.0000
ExAC Global Study-wide 121388 G=0.999992 A=0.000008
ExAC Europe Sub 73342 G=1.00000 A=0.00000
ExAC Asian Sub 25158 G=0.99996 A=0.00004
ExAC American Sub 11578 G=1.00000 A=0.00000
ExAC African Sub 10402 G=1.00000 A=0.00000
ExAC Other Sub 908 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 100660 G=0.999990 A=0.000010
Allele Frequency Aggregator European Sub 90100 G=0.99999 A=0.00001
Allele Frequency Aggregator African Sub 3584 G=1.0000 A=0.0000
Allele Frequency Aggregator Asian Sub 3304 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 2032 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 928 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 436 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 276 G=1.000 A=0.000
The PAGE Study Global Study-wide 78700 G=0.99997 A=0.00003
The PAGE Study AfricanAmerican Sub 32514 G=0.99994 A=0.00006
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
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.61780893G>A
GRCh38.p14 chr 17 NC_000017.11:g.61780893G>C
GRCh37.p13 chr 17 NC_000017.10:g.59858254G>A
GRCh37.p13 chr 17 NC_000017.10:g.59858254G>C
BRIP1 RefSeqGene (LRG_300) NG_007409.2:g.87667C>T
BRIP1 RefSeqGene (LRG_300) NG_007409.2:g.87667C>G
Gene: BRIP1, BRCA1 interacting helicase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRIP1 transcript NM_032043.3:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein NP_114432.2:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript NM_032043.3:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein NP_114432.2:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X1 XM_011525332.4:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523634.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X1 XM_011525332.4:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523634.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X2 XM_011525333.4:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523635.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X2 XM_011525333.4:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523635.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X3 XM_011525334.3:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523636.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X3 XM_011525334.3:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523636.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X4 XM_047436891.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X2 XP_047292847.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X4 XM_047436891.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X2 XP_047292847.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X5 XM_047436892.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X2 XP_047292848.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X5 XM_047436892.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X2 XP_047292848.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X6 XM_011525335.4:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X3 XP_011523637.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X6 XM_011525335.4:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X3 XP_011523637.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X7 XM_011525336.3:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X4 XP_011523638.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X7 XM_011525336.3:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X4 XP_011523638.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X8 XM_047436893.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X4 XP_047292849.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X8 XM_047436893.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X4 XP_047292849.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X9 XM_047436894.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X4 XP_047292850.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X9 XM_047436894.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X4 XP_047292850.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X10 XM_011525339.4:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X5 XP_011523641.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X10 XM_011525339.4:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X5 XP_011523641.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X11 XM_047436895.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X5 XP_047292851.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X11 XM_047436895.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X5 XP_047292851.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X12 XM_011525340.4:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X6 XP_011523642.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X12 XM_011525340.4:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X6 XP_011523642.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X13 XM_047436896.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_047292852.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X13 XM_047436896.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_047292852.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X14 XM_047436897.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_047292853.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X14 XM_047436897.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_047292853.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X15 XM_047436899.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_047292855.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X15 XM_047436899.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_047292855.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X16 XM_047436900.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X8 XP_047292856.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X16 XM_047436900.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X8 XP_047292856.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X17 XM_047436901.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X8 XP_047292857.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X17 XM_047436901.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X8 XP_047292857.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X18 XM_047436902.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_047292858.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X18 XM_047436902.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_047292858.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X19 XM_047436903.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_047292859.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X19 XM_047436903.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_047292859.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X20 XM_047436904.1:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_047292860.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X20 XM_047436904.1:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_047292860.1:p.Arg581Gly R (Arg) > G (Gly) Missense Variant
BRIP1 transcript variant X21 XM_011525341.4:c.1741C>T R [CGA] > * [TGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X10 XP_011523643.1:p.Arg581Ter R (Arg) > * (Ter) Stop Gained
BRIP1 transcript variant X21 XM_011525341.4:c.1741C>G R [CGA] > G [GGA] Coding Sequence Variant
Fanconi anemia group J protein isoform X10 XP_011523643.1:p.Arg581Gly R (Arg) > G (Gly) 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.

Allele: A (allele ID: 429997 )
ClinVar Accession Disease Names Clinical Significance
RCV000503203.5 Breast cancer, early-onset Pathogenic
RCV000568917.6 Hereditary cancer-predisposing syndrome Pathogenic
RCV000657756.7 not provided Pathogenic-Likely-Pathogenic
RCV000785424.4 Neoplasm of ovary Pathogenic
RCV000804787.5 Familial cancer of breast,Fanconi anemia complementation group J Pathogenic
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 G= A C
GRCh38.p14 chr 17 NC_000017.11:g.61780893= NC_000017.11:g.61780893G>A NC_000017.11:g.61780893G>C
GRCh37.p13 chr 17 NC_000017.10:g.59858254= NC_000017.10:g.59858254G>A NC_000017.10:g.59858254G>C
BRIP1 RefSeqGene (LRG_300) NG_007409.2:g.87667= NG_007409.2:g.87667C>T NG_007409.2:g.87667C>G
BRIP1 transcript NM_032043.3:c.1741= NM_032043.3:c.1741C>T NM_032043.3:c.1741C>G
BRIP1 transcript NM_032043.2:c.1741= NM_032043.2:c.1741C>T NM_032043.2:c.1741C>G
BRIP1 transcript variant X1 XM_011525332.4:c.1741= XM_011525332.4:c.1741C>T XM_011525332.4:c.1741C>G
BRIP1 transcript variant X1 XM_011525332.3:c.1741= XM_011525332.3:c.1741C>T XM_011525332.3:c.1741C>G
BRIP1 transcript variant X1 XM_011525332.2:c.1741= XM_011525332.2:c.1741C>T XM_011525332.2:c.1741C>G
BRIP1 transcript variant X1 XM_011525332.1:c.1741= XM_011525332.1:c.1741C>T XM_011525332.1:c.1741C>G
BRIP1 transcript variant X2 XM_011525333.4:c.1741= XM_011525333.4:c.1741C>T XM_011525333.4:c.1741C>G
BRIP1 transcript variant X2 XM_011525333.3:c.1741= XM_011525333.3:c.1741C>T XM_011525333.3:c.1741C>G
BRIP1 transcript variant X2 XM_011525333.2:c.1741= XM_011525333.2:c.1741C>T XM_011525333.2:c.1741C>G
BRIP1 transcript variant X2 XM_011525333.1:c.1741= XM_011525333.1:c.1741C>T XM_011525333.1:c.1741C>G
BRIP1 transcript variant X6 XM_011525335.4:c.1741= XM_011525335.4:c.1741C>T XM_011525335.4:c.1741C>G
BRIP1 transcript variant X4 XM_011525335.3:c.1741= XM_011525335.3:c.1741C>T XM_011525335.3:c.1741C>G
BRIP1 transcript variant X4 XM_011525335.2:c.1741= XM_011525335.2:c.1741C>T XM_011525335.2:c.1741C>G
BRIP1 transcript variant X4 XM_011525335.1:c.1741= XM_011525335.1:c.1741C>T XM_011525335.1:c.1741C>G
BRIP1 transcript variant X12 XM_011525340.4:c.1741= XM_011525340.4:c.1741C>T XM_011525340.4:c.1741C>G
BRIP1 transcript variant X11 XM_011525340.3:c.1741= XM_011525340.3:c.1741C>T XM_011525340.3:c.1741C>G
BRIP1 transcript variant X11 XM_011525340.2:c.1741= XM_011525340.2:c.1741C>T XM_011525340.2:c.1741C>G
BRIP1 transcript variant X9 XM_011525340.1:c.1741= XM_011525340.1:c.1741C>T XM_011525340.1:c.1741C>G
BRIP1 transcript variant X10 XM_011525339.4:c.1741= XM_011525339.4:c.1741C>T XM_011525339.4:c.1741C>G
BRIP1 transcript variant X10 XM_011525339.3:c.1741= XM_011525339.3:c.1741C>T XM_011525339.3:c.1741C>G
BRIP1 transcript variant X10 XM_011525339.2:c.1741= XM_011525339.2:c.1741C>T XM_011525339.2:c.1741C>G
BRIP1 transcript variant X8 XM_011525339.1:c.1741= XM_011525339.1:c.1741C>T XM_011525339.1:c.1741C>G
BRIP1 transcript variant X21 XM_011525341.4:c.1741= XM_011525341.4:c.1741C>T XM_011525341.4:c.1741C>G
BRIP1 transcript variant X12 XM_011525341.3:c.1741= XM_011525341.3:c.1741C>T XM_011525341.3:c.1741C>G
BRIP1 transcript variant X12 XM_011525341.2:c.1741= XM_011525341.2:c.1741C>T XM_011525341.2:c.1741C>G
BRIP1 transcript variant X10 XM_011525341.1:c.1741= XM_011525341.1:c.1741C>T XM_011525341.1:c.1741C>G
BRIP1 transcript variant X3 XM_011525334.3:c.1741= XM_011525334.3:c.1741C>T XM_011525334.3:c.1741C>G
BRIP1 transcript variant X3 XM_011525334.2:c.1741= XM_011525334.2:c.1741C>T XM_011525334.2:c.1741C>G
BRIP1 transcript variant X3 XM_011525334.1:c.1741= XM_011525334.1:c.1741C>T XM_011525334.1:c.1741C>G
BRIP1 transcript variant X7 XM_011525336.3:c.1741= XM_011525336.3:c.1741C>T XM_011525336.3:c.1741C>G
BRIP1 transcript variant X5 XM_011525336.2:c.1741= XM_011525336.2:c.1741C>T XM_011525336.2:c.1741C>G
BRIP1 transcript variant X5 XM_011525336.1:c.1741= XM_011525336.1:c.1741C>T XM_011525336.1:c.1741C>G
BRIP1 transcript variant X5 XM_047436892.1:c.1741= XM_047436892.1:c.1741C>T XM_047436892.1:c.1741C>G
BRIP1 transcript variant X9 XM_047436894.1:c.1741= XM_047436894.1:c.1741C>T XM_047436894.1:c.1741C>G
BRIP1 transcript variant X4 XM_047436891.1:c.1741= XM_047436891.1:c.1741C>T XM_047436891.1:c.1741C>G
BRIP1 transcript variant X8 XM_047436893.1:c.1741= XM_047436893.1:c.1741C>T XM_047436893.1:c.1741C>G
BRIP1 transcript variant X15 XM_047436899.1:c.1741= XM_047436899.1:c.1741C>T XM_047436899.1:c.1741C>G
BRIP1 transcript variant X20 XM_047436904.1:c.1741= XM_047436904.1:c.1741C>T XM_047436904.1:c.1741C>G
BRIP1 transcript variant X16 XM_047436900.1:c.1741= XM_047436900.1:c.1741C>T XM_047436900.1:c.1741C>G
BRIP1 transcript variant X17 XM_047436901.1:c.1741= XM_047436901.1:c.1741C>T XM_047436901.1:c.1741C>G
BRIP1 transcript variant X11 XM_047436895.1:c.1741= XM_047436895.1:c.1741C>T XM_047436895.1:c.1741C>G
BRIP1 transcript variant X13 XM_047436896.1:c.1741= XM_047436896.1:c.1741C>T XM_047436896.1:c.1741C>G
BRIP1 transcript variant X14 XM_047436897.1:c.1741= XM_047436897.1:c.1741C>T XM_047436897.1:c.1741C>G
BRIP1 transcript variant X18 XM_047436902.1:c.1741= XM_047436902.1:c.1741C>T XM_047436902.1:c.1741C>G
BRIP1 transcript variant X19 XM_047436903.1:c.1741= XM_047436903.1:c.1741C>T XM_047436903.1:c.1741C>G
Fanconi anemia group J protein NP_114432.2:p.Arg581= NP_114432.2:p.Arg581Ter NP_114432.2:p.Arg581Gly
Fanconi anemia group J protein isoform X1 XP_011523634.1:p.Arg581= XP_011523634.1:p.Arg581Ter XP_011523634.1:p.Arg581Gly
Fanconi anemia group J protein isoform X1 XP_011523635.1:p.Arg581= XP_011523635.1:p.Arg581Ter XP_011523635.1:p.Arg581Gly
Fanconi anemia group J protein isoform X3 XP_011523637.1:p.Arg581= XP_011523637.1:p.Arg581Ter XP_011523637.1:p.Arg581Gly
Fanconi anemia group J protein isoform X6 XP_011523642.1:p.Arg581= XP_011523642.1:p.Arg581Ter XP_011523642.1:p.Arg581Gly
Fanconi anemia group J protein isoform X5 XP_011523641.1:p.Arg581= XP_011523641.1:p.Arg581Ter XP_011523641.1:p.Arg581Gly
Fanconi anemia group J protein isoform X10 XP_011523643.1:p.Arg581= XP_011523643.1:p.Arg581Ter XP_011523643.1:p.Arg581Gly
Fanconi anemia group J protein isoform X1 XP_011523636.1:p.Arg581= XP_011523636.1:p.Arg581Ter XP_011523636.1:p.Arg581Gly
Fanconi anemia group J protein isoform X4 XP_011523638.1:p.Arg581= XP_011523638.1:p.Arg581Ter XP_011523638.1:p.Arg581Gly
Fanconi anemia group J protein isoform X2 XP_047292848.1:p.Arg581= XP_047292848.1:p.Arg581Ter XP_047292848.1:p.Arg581Gly
Fanconi anemia group J protein isoform X4 XP_047292850.1:p.Arg581= XP_047292850.1:p.Arg581Ter XP_047292850.1:p.Arg581Gly
Fanconi anemia group J protein isoform X2 XP_047292847.1:p.Arg581= XP_047292847.1:p.Arg581Ter XP_047292847.1:p.Arg581Gly
Fanconi anemia group J protein isoform X4 XP_047292849.1:p.Arg581= XP_047292849.1:p.Arg581Ter XP_047292849.1:p.Arg581Gly
Fanconi anemia group J protein isoform X7 XP_047292855.1:p.Arg581= XP_047292855.1:p.Arg581Ter XP_047292855.1:p.Arg581Gly
Fanconi anemia group J protein isoform X9 XP_047292860.1:p.Arg581= XP_047292860.1:p.Arg581Ter XP_047292860.1:p.Arg581Gly
Fanconi anemia group J protein isoform X8 XP_047292856.1:p.Arg581= XP_047292856.1:p.Arg581Ter XP_047292856.1:p.Arg581Gly
Fanconi anemia group J protein isoform X8 XP_047292857.1:p.Arg581= XP_047292857.1:p.Arg581Ter XP_047292857.1:p.Arg581Gly
Fanconi anemia group J protein isoform X5 XP_047292851.1:p.Arg581= XP_047292851.1:p.Arg581Ter XP_047292851.1:p.Arg581Gly
Fanconi anemia group J protein isoform X7 XP_047292852.1:p.Arg581= XP_047292852.1:p.Arg581Ter XP_047292852.1:p.Arg581Gly
Fanconi anemia group J protein isoform X7 XP_047292853.1:p.Arg581= XP_047292853.1:p.Arg581Ter XP_047292853.1:p.Arg581Gly
Fanconi anemia group J protein isoform X9 XP_047292858.1:p.Arg581= XP_047292858.1:p.Arg581Ter XP_047292858.1:p.Arg581Gly
Fanconi anemia group J protein isoform X9 XP_047292859.1:p.Arg581= XP_047292859.1:p.Arg581Ter XP_047292859.1:p.Arg581Gly
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#.

17 SubSNP, 5 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1692896409 Apr 01, 2015 (144)
2 ILLUMINA ss1946461328 Feb 12, 2016 (147)
3 ILLUMINA ss1959759462 Feb 12, 2016 (147)
4 GNOMAD ss2742902549 Nov 08, 2017 (151)
5 AFFY ss2985101477 Nov 08, 2017 (151)
6 ILLUMINA ss3021794202 Nov 08, 2017 (151)
7 ILLUMINA ss3625716222 Oct 12, 2018 (152)
8 ILLUMINA ss3644692461 Oct 12, 2018 (152)
9 ILLUMINA ss3652211684 Oct 12, 2018 (152)
10 ILLUMINA ss3653873095 Oct 12, 2018 (152)
11 ILLUMINA ss3725634087 Jul 13, 2019 (153)
12 ILLUMINA ss3744151843 Jul 13, 2019 (153)
13 PAGE_CC ss3771937651 Jul 13, 2019 (153)
14 TOPMED ss5040525662 Apr 27, 2021 (155)
15 EVA ss5847803164 Oct 16, 2022 (156)
16 EVA ss5936345052 Oct 16, 2022 (156)
17 EVA ss5951748963 Oct 16, 2022 (156)
18 ExAC NC_000017.10 - 59858254 Oct 12, 2018 (152)
19 gnomAD - Exomes NC_000017.10 - 59858254 Jul 13, 2019 (153)
20 The PAGE Study NC_000017.11 - 61780893 Jul 13, 2019 (153)
21 TopMed NC_000017.11 - 61780893 Apr 27, 2021 (155)
22 ALFA NC_000017.11 - 61780893 Apr 27, 2021 (155)
23 ClinVar RCV000503203.5 Oct 16, 2022 (156)
24 ClinVar RCV000568917.6 Oct 16, 2022 (156)
25 ClinVar RCV000657756.7 Oct 16, 2022 (156)
26 ClinVar RCV000785424.4 Oct 16, 2022 (156)
27 ClinVar RCV000804787.5 Oct 16, 2022 (156)
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
3348687, 12207832, ss1692896409, ss1946461328, ss1959759462, ss2742902549, ss2985101477, ss3021794202, ss3625716222, ss3644692461, ss3652211684, ss3653873095, ss3744151843, ss5847803164, ss5936345052, ss5951748963 NC_000017.10:59858253:G:A NC_000017.11:61780892:G:A (self)
RCV000503203.5, RCV000568917.6, RCV000657756.7, RCV000785424.4, RCV000804787.5, 1159120, 256071324, 3661813676, ss3725634087, ss3771937651, ss5040525662 NC_000017.11:61780892:G:A NC_000017.11:61780892:G:A (self)
ss5936345052 NC_000017.10:59858253:G:C NC_000017.11:61780892:G:C
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs780020495
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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.post761+d5e8e07