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dbSNP Short Genetic Variations

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.

rs587781321

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr17:61780325 (GRCh38.p12) 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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00002 (4/246244, GnomAD)
T=0.00002 (4/246244, GnomAD)
A=0.00004 (5/125568, TOPMED) (+ 4 more)
T=0.00001 (1/121366, ExAC)
T=0.0000 (1/30880, GnomAD)
A=0.000 (0/3854, ALSPAC)
A=0.000 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRIP1 : Stop Gained
Publications
2 citations
Genomic View
See rs on genome
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.p12 chr 17 NC_000017.11:g.61780325G>A
GRCh38.p12 chr 17 NC_000017.11:g.61780325G>T
GRCh37.p13 chr 17 NC_000017.10:g.59857686G>A
GRCh37.p13 chr 17 NC_000017.10:g.59857686G>T
BRIP1 RefSeqGene (LRG_300) NG_007409.2:g.88235C>T
BRIP1 RefSeqGene (LRG_300) NG_007409.2:g.88235C>A
Gene: BRIP1, BRCA1 interacting protein C-terminal helicase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRIP1 transcript NM_032043.2:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein NP_114432.2:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript NM_032043.2:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein NP_114432.2:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X6 XM_011525337.2:c. N/A Intron Variant
BRIP1 transcript variant X14 XM_017025203.1:c. N/A 5 Prime UTR Variant
BRIP1 transcript variant X13 XM_017025202.1:c. N/A Genic Upstream Transcript Variant
BRIP1 transcript variant X3 XM_011525334.2:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523636.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X3 XM_011525334.2:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523636.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X5 XM_011525336.2:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X3 XP_011523638.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X5 XM_011525336.2:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X3 XP_011523638.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X7 XM_011525338.2:c.1388C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X5 XP_011523640.1:p.Ser463Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X7 XM_011525338.2:c.1388C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X5 XP_011523640.1:p.Ser463Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X8 XM_017025200.1:c.1388C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X6 XP_016880689.1:p.Ser463Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X8 XM_017025200.1:c.1388C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X6 XP_016880689.1:p.Ser463Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X9 XM_017025201.1:c.1328C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_016880690.1:p.Ser443Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X9 XM_017025201.1:c.1328C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X7 XP_016880690.1:p.Ser443Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X1 XM_011525332.3:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523634.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X1 XM_011525332.3:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523634.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X2 XM_011525333.3:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523635.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X2 XM_011525333.3:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X1 XP_011523635.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X4 XM_011525335.3:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X2 XP_011523637.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X4 XM_011525335.3:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X2 XP_011523637.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X10 XM_011525339.3:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X8 XP_011523641.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X10 XM_011525339.3:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X8 XP_011523641.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X11 XM_011525340.3:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_011523642.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X11 XM_011525340.3:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X9 XP_011523642.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
BRIP1 transcript variant X12 XM_011525341.3:c.1871C>T S [TCG] > L [TTG] Coding Sequence Variant
Fanconi anemia group J protein isoform X10 XP_011523643.1:p.Ser624Leu S (Ser) > L (Leu) Missense Variant
BRIP1 transcript variant X12 XM_011525341.3:c.1871C>A S [TCG] > * [TAG] Coding Sequence Variant
Fanconi anemia group J protein isoform X10 XP_011523643.1:p.Ser624Ter S (Ser) > * (Ter) Stop Gained
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: 185260 )
ClinVar Accession Disease Names Clinical Significance
RCV000166032.4 Hereditary cancer-predisposing syndrome Uncertain-Significance
RCV000197937.3 Familial cancer of breast,Fanconi anemia, complementation group J Uncertain-Significance
RCV000284654.2 not provided Uncertain-Significance
RCV000410706.1 Fanconi anemia, complementation group J Uncertain-Significance
RCV000411705.1 Neoplasm of ovary Uncertain-Significance
Allele: T (allele ID: 150566 )
ClinVar Accession Disease Names Clinical Significance
RCV000129060.6 Hereditary cancer-predisposing syndrome Pathogenic
RCV000228701.4 Familial cancer of breast,Fanconi anemia, complementation group J Pathogenic
RCV000254651.3 not provided Pathogenic
RCV000576387.1 Fanconi anemia, complementation group J,Neoplasm of ovary Pathogenic
RCV000589135.1 Hereditary breast and ovarian cancer syndrome Pathogenic
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 246244 G=0.99997 T=0.00002, A=0.00002
gnomAD - Exomes European Sub 134000 G=0.99994 T=0.00003, A=0.00003
gnomAD - Exomes Asian Sub 48030 G=1.0000 T=0.0000, A=0.0000
gnomAD - Exomes American Sub 33582 G=1.0000 T=0.0000, A=0.0000
gnomAD - Exomes African Sub 15300 G=1.0000 T=0.0000, A=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 9850 G=1.000 T=0.000, A=0.000
gnomAD - Exomes Other Sub 5482 G=1.000 T=0.000, A=0.000
TopMed Global Study-wide 125568 G=0.99994 A=0.00004, T=0.00002
ExAC Global Study-wide 121366 G=0.99999 T=0.00001
ExAC Europe Sub 73328 G=1.0000 T=0.0000
ExAC Asian Sub 25162 G=1.0000 T=0.0000
ExAC American Sub 11578 G=1.0000 T=0.0000
ExAC African Sub 10392 G=1.0000 T=0.0000
ExAC Other Sub 906 G=1.00 T=0.00
gnomAD - Genomes Global Study-wide 30880 G=1.0000 T=0.0000
gnomAD - Genomes European Sub 18434 G=1.0000 T=0.0000
gnomAD - Genomes African Sub 8718 G=1.000 T=0.000
gnomAD - Genomes East Asian Sub 1620 G=1.000 T=0.000
gnomAD - Genomes Other Sub 976 G=1.00 T=0.00
gnomAD - Genomes American Sub 830 G=1.00 T=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=1.00 T=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.000 A=0.000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.000 A=0.000
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 T Note
GRCh38.p12 chr 17 NC_000017.11:g.61...

NC_000017.11:g.61780325G=

NC_000017.11:g.61...

NC_000017.11:g.61780325G>A

NC_000017.11:g.61...

NC_000017.11:g.61780325G>T

GRCh37.p13 chr 17 NC_000017.10:g.59...

NC_000017.10:g.59857686G=

NC_000017.10:g.59...

NC_000017.10:g.59857686G>A

NC_000017.10:g.59...

NC_000017.10:g.59857686G>T

BRIP1 RefSeqGene (LRG_300) NG_007409.2:g.882...

NG_007409.2:g.88235C=

NG_007409.2:g.882...

NG_007409.2:g.88235C>T

NG_007409.2:g.882...

NG_007409.2:g.88235C>A

BRIP1 transcript NM_032043.2:c.1871C= NM_032043.2:c.187...

NM_032043.2:c.1871C>T

NM_032043.2:c.187...

NM_032043.2:c.1871C>A

BRIP1 transcript variant X1 XM_011525332.3:c....

XM_011525332.3:c.1871C=

XM_011525332.3:c....

XM_011525332.3:c.1871C>T

XM_011525332.3:c....

XM_011525332.3:c.1871C>A

BRIP1 transcript variant X2 XM_011525333.3:c....

XM_011525333.3:c.1871C=

XM_011525333.3:c....

XM_011525333.3:c.1871C>T

XM_011525333.3:c....

XM_011525333.3:c.1871C>A

BRIP1 transcript variant X4 XM_011525335.3:c....

XM_011525335.3:c.1871C=

XM_011525335.3:c....

XM_011525335.3:c.1871C>T

XM_011525335.3:c....

XM_011525335.3:c.1871C>A

BRIP1 transcript variant X10 XM_011525339.3:c....

XM_011525339.3:c.1871C=

XM_011525339.3:c....

XM_011525339.3:c.1871C>T

XM_011525339.3:c....

XM_011525339.3:c.1871C>A

BRIP1 transcript variant X11 XM_011525340.3:c....

XM_011525340.3:c.1871C=

XM_011525340.3:c....

XM_011525340.3:c.1871C>T

XM_011525340.3:c....

XM_011525340.3:c.1871C>A

BRIP1 transcript variant X12 XM_011525341.3:c....

XM_011525341.3:c.1871C=

XM_011525341.3:c....

XM_011525341.3:c.1871C>T

XM_011525341.3:c....

XM_011525341.3:c.1871C>A

BRIP1 transcript variant X3 XM_011525334.2:c....

XM_011525334.2:c.1871C=

XM_011525334.2:c....

XM_011525334.2:c.1871C>T

XM_011525334.2:c....

XM_011525334.2:c.1871C>A

BRIP1 transcript variant X5 XM_011525336.2:c....

XM_011525336.2:c.1871C=

XM_011525336.2:c....

XM_011525336.2:c.1871C>T

XM_011525336.2:c....

XM_011525336.2:c.1871C>A

BRIP1 transcript variant X7 XM_011525338.2:c....

XM_011525338.2:c.1388C=

XM_011525338.2:c....

XM_011525338.2:c.1388C>T

XM_011525338.2:c....

XM_011525338.2:c.1388C>A

BRIP1 transcript variant X9 XM_017025201.1:c....

XM_017025201.1:c.1328C=

XM_017025201.1:c....

XM_017025201.1:c.1328C>T

XM_017025201.1:c....

XM_017025201.1:c.1328C>A

BRIP1 transcript variant X8 XM_017025200.1:c....

XM_017025200.1:c.1388C=

XM_017025200.1:c....

XM_017025200.1:c.1388C>T

XM_017025200.1:c....

XM_017025200.1:c.1388C>A

BRIP1 transcript variant X14 XM_017025203.1:c....

XM_017025203.1:c.-90C=

XM_017025203.1:c....

XM_017025203.1:c.-90C>T

XM_017025203.1:c....

XM_017025203.1:c.-90C>A

Fanconi anemia group J protein NP_114432.2:p.Ser...

NP_114432.2:p.Ser624=

NP_114432.2:p.Ser...

NP_114432.2:p.Ser624Leu

NP_114432.2:p.Ser...

NP_114432.2:p.Ser624Ter

Fanconi anemia group J protein isoform X1 XP_011523634.1:p....

XP_011523634.1:p.Ser624=

XP_011523634.1:p....

XP_011523634.1:p.Ser624Leu

XP_011523634.1:p....

XP_011523634.1:p.Ser624Ter

Fanconi anemia group J protein isoform X1 XP_011523635.1:p....

XP_011523635.1:p.Ser624=

XP_011523635.1:p....

XP_011523635.1:p.Ser624Leu

XP_011523635.1:p....

XP_011523635.1:p.Ser624Ter

Fanconi anemia group J protein isoform X2 XP_011523637.1:p....

XP_011523637.1:p.Ser624=

XP_011523637.1:p....

XP_011523637.1:p.Ser624Leu

XP_011523637.1:p....

XP_011523637.1:p.Ser624Ter

Fanconi anemia group J protein isoform X8 XP_011523641.1:p....

XP_011523641.1:p.Ser624=

XP_011523641.1:p....

XP_011523641.1:p.Ser624Leu

XP_011523641.1:p....

XP_011523641.1:p.Ser624Ter

Fanconi anemia group J protein isoform X9 XP_011523642.1:p....

XP_011523642.1:p.Ser624=

XP_011523642.1:p....

XP_011523642.1:p.Ser624Leu

XP_011523642.1:p....

XP_011523642.1:p.Ser624Ter

Fanconi anemia group J protein isoform X10 XP_011523643.1:p....

XP_011523643.1:p.Ser624=

XP_011523643.1:p....

XP_011523643.1:p.Ser624Leu

XP_011523643.1:p....

XP_011523643.1:p.Ser624Ter

Fanconi anemia group J protein isoform X1 XP_011523636.1:p....

XP_011523636.1:p.Ser624=

XP_011523636.1:p....

XP_011523636.1:p.Ser624Leu

XP_011523636.1:p....

XP_011523636.1:p.Ser624Ter

Fanconi anemia group J protein isoform X3 XP_011523638.1:p....

XP_011523638.1:p.Ser624=

XP_011523638.1:p....

XP_011523638.1:p.Ser624Leu

XP_011523638.1:p....

XP_011523638.1:p.Ser624Ter

Fanconi anemia group J protein isoform X5 XP_011523640.1:p....

XP_011523640.1:p.Ser463=

XP_011523640.1:p....

XP_011523640.1:p.Ser463Leu

XP_011523640.1:p....

XP_011523640.1:p.Ser463Ter

Fanconi anemia group J protein isoform X7 XP_016880690.1:p....

XP_016880690.1:p.Ser443=

XP_016880690.1:p....

XP_016880690.1:p.Ser443Leu

XP_016880690.1:p....

XP_016880690.1:p.Ser443Ter

Fanconi anemia group J protein isoform X6 XP_016880689.1:p....

XP_016880689.1:p.Ser463=

XP_016880689.1:p....

XP_016880689.1:p.Ser463Leu

XP_016880689.1:p....

XP_016880689.1:p.Ser463Ter

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#.

12 SubSNP, 6 Frequency, 10 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss1457619728 Nov 23, 2014 (142)
2 EVA_UK10K_ALSPAC ss1635909595 Apr 01, 2015 (144)
3 EVA_UK10K_TWINSUK ss1678903628 Apr 01, 2015 (144)
4 EVA_EXAC ss1692896368 Apr 01, 2015 (144)
5 CLINVAR ss1751111707 May 21, 2015 (144)
6 HUMAN_LONGEVITY ss2217872574 Dec 20, 2016 (150)
7 TOPMED ss2383054864 Dec 20, 2016 (150)
8 GNOMAD ss2742902498 Nov 08, 2017 (151)
9 GNOMAD ss2749830307 Nov 08, 2017 (151)
10 GNOMAD ss2951375800 Nov 08, 2017 (151)
11 TOPMED ss3266287188 Nov 08, 2017 (151)
12 TOPMED ss3266287189 Nov 08, 2017 (151)
13 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 59857686 Oct 12, 2018 (152)
14 ExAC NC_000017.10 - 59857686 Oct 12, 2018 (152)
15 gnomAD - Genomes NC_000017.10 - 59857686 Oct 12, 2018 (152)
16 gnomAD - Exomes NC_000017.10 - 59857686 Oct 12, 2018 (152)
17 TopMed NC_000017.11 - 61780325 Oct 12, 2018 (152)
18 UK 10K study - Twins NC_000017.10 - 59857686 Oct 12, 2018 (152)
19 ClinVar RCV000129060.6 Oct 12, 2018 (152)
20 ClinVar RCV000166032.4 Oct 12, 2018 (152)
21 ClinVar RCV000197937.3 Oct 12, 2018 (152)
22 ClinVar RCV000228701.4 Oct 12, 2018 (152)
23 ClinVar RCV000254651.3 Oct 12, 2018 (152)
24 ClinVar RCV000284654.2 Oct 12, 2018 (152)
25 ClinVar RCV000410706.1 Oct 12, 2018 (152)
26 ClinVar RCV000411705.1 Oct 12, 2018 (152)
27 ClinVar RCV000576387.1 Oct 12, 2018 (152)
28 ClinVar RCV000589135.1 Oct 12, 2018 (152)
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
40133940, 3348646, 85077328, 9618396, 40133940, ss1635909595, ss1678903628, ss1692896368, ss2383054864, ss2742902498, ss2749830307, ss2951375800 NC_000017.10:59857685:G= NC_000017.11:61780324:G= (self)
159775357, ss1457619728, ss1751111707, ss2217872574, ss3266287188, ss3266287189 NC_000017.11:61780324:G= NC_000017.11:61780324:G= (self)
40133940, 9618396, 40133940, ss1635909595, ss1678903628, ss2383054864, ss2742902498 NC_000017.10:59857685:G>A NC_000017.11:61780324:G>A (self)
RCV000166032.4, RCV000197937.3, RCV000284654.2, RCV000410706.1, RCV000411705.1, 159775357, ss1751111707, ss2217872574, ss3266287188 NC_000017.11:61780324:G>A NC_000017.11:61780324:G>A (self)
3348646, 85077328, 9618396, ss1692896368, ss2742902498, ss2749830307, ss2951375800 NC_000017.10:59857685:G>T NC_000017.11:61780324:G>T (self)
RCV000129060.6, RCV000228701.4, RCV000254651.3, RCV000576387.1, RCV000589135.1, 159775357, ss1457619728, ss2217872574, ss3266287189 NC_000017.11:61780324:G>T NC_000017.11:61780324:G>T (self)
Help

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

2 citations for rs587781321
PMID Title Author Year Journal
26315354 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. Ramus SJ et al. 2015 Journal of the National Cancer Institute
26921362 No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Easton DF et al. 2016 Journal of medical genetics

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.post104+4a6ee9c