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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.

rs60051218

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:93816671-93816695 (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
del(A)16 / del(A)15 / del(A)14 / d…

del(A)16 / del(A)15 / del(A)14 / del(A)13 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / ins(A)41

Variation Type
Indel Insertion and Deletion
Frequency
del(A)16=0.0000 (0/3124, ALFA)
del(A)15=0.0000 (0/3124, ALFA)
del(A)14=0.0000 (0/3124, ALFA) (+ 13 more)
del(A)13=0.0000 (0/3124, ALFA)
del(A)11=0.0000 (0/3124, ALFA)
del(A)10=0.0000 (0/3124, ALFA)
del(A)9=0.0000 (0/3124, ALFA)
del(A)8=0.0000 (0/3124, ALFA)
del(A)7=0.0000 (0/3124, ALFA)
del(A)6=0.0000 (0/3124, ALFA)
del(A)5=0.0000 (0/3124, ALFA)
del(A)4=0.0000 (0/3124, ALFA)
delAAA=0.0000 (0/3124, ALFA)
delAA=0.0000 (0/3124, ALFA)
delA=0.0000 (0/3124, ALFA)
dupA=0.0000 (0/3124, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BCAR3 : 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 3124 AAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 2524 AAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 276 AAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 8 AAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 268 AAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 8 AAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 44 AAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 156 AAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 18 AAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 96 AAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 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 3124 (A)25=1.0000 del(A)16=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator European Sub 2524 (A)25=1.0000 del(A)16=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator African Sub 276 (A)25=1.000 del(A)16=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator Latin American 2 Sub 156 (A)25=1.000 del(A)16=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator Other Sub 96 (A)25=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator Latin American 1 Sub 44 (A)25=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator South Asian Sub 18 (A)25=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator Asian Sub 10 (A)25=1.0 del(A)16=0.0, del(A)15=0.0, del(A)14=0.0, del(A)13=0.0, del(A)11=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
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 1 NC_000001.11:g.93816680_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816681_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816682_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816683_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816685_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816686_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816687_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816688_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816689_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816690_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816691_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816692_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816693_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816694_93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816695del
GRCh38.p14 chr 1 NC_000001.11:g.93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816694_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816693_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816692_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816691_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816690_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816689_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816688_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816687_93816695dup
GRCh38.p14 chr 1 NC_000001.11:g.93816695_93816696insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.94282236_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282237_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282238_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282239_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282241_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282242_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282243_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282244_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282245_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282246_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282247_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282248_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282249_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282250_94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282251del
GRCh37.p13 chr 1 NC_000001.10:g.94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282250_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282249_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282248_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282247_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282246_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282245_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282244_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282243_94282251dup
GRCh37.p13 chr 1 NC_000001.10:g.94282251_94282252insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: BCAR3, BCAR3 adaptor protein, NSP family member (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BCAR3 transcript variant 1 NM_001261408.2:c.-63+2888…

NM_001261408.2:c.-63+28881_-63+28896del

N/A Intron Variant
BCAR3 transcript variant 3 NM_001261409.1:c. N/A Genic Upstream Transcript Variant
BCAR3 transcript variant 4 NM_001261410.2:c. N/A Genic Upstream Transcript Variant
BCAR3 transcript variant 5 NM_001308251.1:c. N/A Genic Upstream Transcript Variant
BCAR3 transcript variant 2 NM_003567.4:c. N/A Genic Upstream Transcript Variant
BCAR3 transcript variant 6 NR_171551.1: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 (A)25= del(A)16 del(A)15 del(A)14 del(A)13 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 ins(A)41
GRCh38.p14 chr 1 NC_000001.11:g.93816671_93816695= NC_000001.11:g.93816680_93816695del NC_000001.11:g.93816681_93816695del NC_000001.11:g.93816682_93816695del NC_000001.11:g.93816683_93816695del NC_000001.11:g.93816685_93816695del NC_000001.11:g.93816686_93816695del NC_000001.11:g.93816687_93816695del NC_000001.11:g.93816688_93816695del NC_000001.11:g.93816689_93816695del NC_000001.11:g.93816690_93816695del NC_000001.11:g.93816691_93816695del NC_000001.11:g.93816692_93816695del NC_000001.11:g.93816693_93816695del NC_000001.11:g.93816694_93816695del NC_000001.11:g.93816695del NC_000001.11:g.93816695dup NC_000001.11:g.93816694_93816695dup NC_000001.11:g.93816693_93816695dup NC_000001.11:g.93816692_93816695dup NC_000001.11:g.93816691_93816695dup NC_000001.11:g.93816690_93816695dup NC_000001.11:g.93816689_93816695dup NC_000001.11:g.93816688_93816695dup NC_000001.11:g.93816687_93816695dup NC_000001.11:g.93816695_93816696insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.94282227_94282251= NC_000001.10:g.94282236_94282251del NC_000001.10:g.94282237_94282251del NC_000001.10:g.94282238_94282251del NC_000001.10:g.94282239_94282251del NC_000001.10:g.94282241_94282251del NC_000001.10:g.94282242_94282251del NC_000001.10:g.94282243_94282251del NC_000001.10:g.94282244_94282251del NC_000001.10:g.94282245_94282251del NC_000001.10:g.94282246_94282251del NC_000001.10:g.94282247_94282251del NC_000001.10:g.94282248_94282251del NC_000001.10:g.94282249_94282251del NC_000001.10:g.94282250_94282251del NC_000001.10:g.94282251del NC_000001.10:g.94282251dup NC_000001.10:g.94282250_94282251dup NC_000001.10:g.94282249_94282251dup NC_000001.10:g.94282248_94282251dup NC_000001.10:g.94282247_94282251dup NC_000001.10:g.94282246_94282251dup NC_000001.10:g.94282245_94282251dup NC_000001.10:g.94282244_94282251dup NC_000001.10:g.94282243_94282251dup NC_000001.10:g.94282251_94282252insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
BCAR3 transcript variant 1 NM_001261408.1:c.-63+28896= NM_001261408.1:c.-63+28881_-63+28896del NM_001261408.1:c.-63+28882_-63+28896del NM_001261408.1:c.-63+28883_-63+28896del NM_001261408.1:c.-63+28884_-63+28896del NM_001261408.1:c.-63+28886_-63+28896del NM_001261408.1:c.-63+28887_-63+28896del NM_001261408.1:c.-63+28888_-63+28896del NM_001261408.1:c.-63+28889_-63+28896del NM_001261408.1:c.-63+28890_-63+28896del NM_001261408.1:c.-63+28891_-63+28896del NM_001261408.1:c.-63+28892_-63+28896del NM_001261408.1:c.-63+28893_-63+28896del NM_001261408.1:c.-63+28894_-63+28896del NM_001261408.1:c.-63+28895_-63+28896del NM_001261408.1:c.-63+28896del NM_001261408.1:c.-63+28896dup NM_001261408.1:c.-63+28895_-63+28896dup NM_001261408.1:c.-63+28894_-63+28896dup NM_001261408.1:c.-63+28893_-63+28896dup NM_001261408.1:c.-63+28892_-63+28896dup NM_001261408.1:c.-63+28891_-63+28896dup NM_001261408.1:c.-63+28890_-63+28896dup NM_001261408.1:c.-63+28889_-63+28896dup NM_001261408.1:c.-63+28888_-63+28896dup NM_001261408.1:c.-63+28896_-63+28897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
BCAR3 transcript variant 1 NM_001261408.2:c.-63+28896= NM_001261408.2:c.-63+28881_-63+28896del NM_001261408.2:c.-63+28882_-63+28896del NM_001261408.2:c.-63+28883_-63+28896del NM_001261408.2:c.-63+28884_-63+28896del NM_001261408.2:c.-63+28886_-63+28896del NM_001261408.2:c.-63+28887_-63+28896del NM_001261408.2:c.-63+28888_-63+28896del NM_001261408.2:c.-63+28889_-63+28896del NM_001261408.2:c.-63+28890_-63+28896del NM_001261408.2:c.-63+28891_-63+28896del NM_001261408.2:c.-63+28892_-63+28896del NM_001261408.2:c.-63+28893_-63+28896del NM_001261408.2:c.-63+28894_-63+28896del NM_001261408.2:c.-63+28895_-63+28896del NM_001261408.2:c.-63+28896del NM_001261408.2:c.-63+28896dup NM_001261408.2:c.-63+28895_-63+28896dup NM_001261408.2:c.-63+28894_-63+28896dup NM_001261408.2:c.-63+28893_-63+28896dup NM_001261408.2:c.-63+28892_-63+28896dup NM_001261408.2:c.-63+28891_-63+28896dup NM_001261408.2:c.-63+28890_-63+28896dup NM_001261408.2:c.-63+28889_-63+28896dup NM_001261408.2:c.-63+28888_-63+28896dup NM_001261408.2:c.-63+28896_-63+28897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

46 SubSNP, 31 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82094609 Dec 15, 2007 (129)
2 HUMANGENOME_JCVI ss95236949 Dec 05, 2013 (144)
3 PJP ss294592479 May 09, 2011 (137)
4 PJP ss294592480 May 09, 2011 (134)
5 SWEGEN ss2987242558 Nov 08, 2017 (151)
6 PACBIO ss3783485339 Jul 12, 2019 (153)
7 PACBIO ss3789131945 Jul 12, 2019 (153)
8 PACBIO ss3794004770 Jul 12, 2019 (153)
9 GNOMAD ss3998292565 Apr 25, 2021 (155)
10 GNOMAD ss3998292566 Apr 25, 2021 (155)
11 GNOMAD ss3998292567 Apr 25, 2021 (155)
12 GNOMAD ss3998292568 Apr 25, 2021 (155)
13 GNOMAD ss3998292569 Apr 25, 2021 (155)
14 GNOMAD ss3998292570 Apr 25, 2021 (155)
15 GNOMAD ss3998292571 Apr 25, 2021 (155)
16 GNOMAD ss3998292572 Apr 25, 2021 (155)
17 GNOMAD ss3998292573 Apr 25, 2021 (155)
18 GNOMAD ss3998292574 Apr 25, 2021 (155)
19 GNOMAD ss3998292575 Apr 25, 2021 (155)
20 GNOMAD ss3998292576 Apr 25, 2021 (155)
21 GNOMAD ss3998292577 Apr 25, 2021 (155)
22 GNOMAD ss3998292578 Apr 25, 2021 (155)
23 GNOMAD ss3998292579 Apr 25, 2021 (155)
24 GNOMAD ss3998292580 Apr 25, 2021 (155)
25 GNOMAD ss3998292581 Apr 25, 2021 (155)
26 GNOMAD ss3998292582 Apr 25, 2021 (155)
27 GNOMAD ss3998292583 Apr 25, 2021 (155)
28 GNOMAD ss3998292584 Apr 25, 2021 (155)
29 TOMMO_GENOMICS ss5145136551 Apr 25, 2021 (155)
30 TOMMO_GENOMICS ss5145136552 Apr 25, 2021 (155)
31 TOMMO_GENOMICS ss5145136553 Apr 25, 2021 (155)
32 TOMMO_GENOMICS ss5145136554 Apr 25, 2021 (155)
33 TOMMO_GENOMICS ss5145136555 Apr 25, 2021 (155)
34 1000G_HIGH_COVERAGE ss5243187350 Oct 12, 2022 (156)
35 1000G_HIGH_COVERAGE ss5243187351 Oct 12, 2022 (156)
36 1000G_HIGH_COVERAGE ss5243187352 Oct 12, 2022 (156)
37 HUGCELL_USP ss5444152271 Oct 12, 2022 (156)
38 HUGCELL_USP ss5444152272 Oct 12, 2022 (156)
39 HUGCELL_USP ss5444152273 Oct 12, 2022 (156)
40 HUGCELL_USP ss5444152274 Oct 12, 2022 (156)
41 SANFORD_IMAGENETICS ss5626055886 Oct 12, 2022 (156)
42 TOMMO_GENOMICS ss5670246505 Oct 12, 2022 (156)
43 TOMMO_GENOMICS ss5670246506 Oct 12, 2022 (156)
44 TOMMO_GENOMICS ss5670246507 Oct 12, 2022 (156)
45 TOMMO_GENOMICS ss5670246508 Oct 12, 2022 (156)
46 TOMMO_GENOMICS ss5670246509 Oct 12, 2022 (156)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 19127630 (NC_000001.11:93816670::A 383/50946)
Row 19127631 (NC_000001.11:93816670::AA 80/50980)
Row 19127632 (NC_000001.11:93816670::AAA 6/51024)...

- Apr 25, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 3105858 (NC_000001.10:94282226:A: 4671/15624)
Row 3105859 (NC_000001.10:94282226:AA: 1579/15624)
Row 3105860 (NC_000001.10:94282226:AAA: 363/15624)...

- Apr 25, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 3105858 (NC_000001.10:94282226:A: 4671/15624)
Row 3105859 (NC_000001.10:94282226:AA: 1579/15624)
Row 3105860 (NC_000001.10:94282226:AAA: 363/15624)...

- Apr 25, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 3105858 (NC_000001.10:94282226:A: 4671/15624)
Row 3105859 (NC_000001.10:94282226:AA: 1579/15624)
Row 3105860 (NC_000001.10:94282226:AAA: 363/15624)...

- Apr 25, 2021 (155)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 3105858 (NC_000001.10:94282226:A: 4671/15624)
Row 3105859 (NC_000001.10:94282226:AA: 1579/15624)
Row 3105860 (NC_000001.10:94282226:AAA: 363/15624)...

- Apr 25, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 3105858 (NC_000001.10:94282226:A: 4671/15624)
Row 3105859 (NC_000001.10:94282226:AA: 1579/15624)
Row 3105860 (NC_000001.10:94282226:AAA: 363/15624)...

- Apr 25, 2021 (155)
72 14KJPN

Submission ignored due to conflicting rows:
Row 4083609 (NC_000001.11:93816670:A: 8158/24782)
Row 4083610 (NC_000001.11:93816670:AA: 2867/24782)
Row 4083611 (NC_000001.11:93816670:AAA: 661/24782)...

- Oct 12, 2022 (156)
73 14KJPN

Submission ignored due to conflicting rows:
Row 4083609 (NC_000001.11:93816670:A: 8158/24782)
Row 4083610 (NC_000001.11:93816670:AA: 2867/24782)
Row 4083611 (NC_000001.11:93816670:AAA: 661/24782)...

- Oct 12, 2022 (156)
74 14KJPN

Submission ignored due to conflicting rows:
Row 4083609 (NC_000001.11:93816670:A: 8158/24782)
Row 4083610 (NC_000001.11:93816670:AA: 2867/24782)
Row 4083611 (NC_000001.11:93816670:AAA: 661/24782)...

- Oct 12, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 4083609 (NC_000001.11:93816670:A: 8158/24782)
Row 4083610 (NC_000001.11:93816670:AA: 2867/24782)
Row 4083611 (NC_000001.11:93816670:AAA: 661/24782)...

- Oct 12, 2022 (156)
76 14KJPN

Submission ignored due to conflicting rows:
Row 4083609 (NC_000001.11:93816670:A: 8158/24782)
Row 4083610 (NC_000001.11:93816670:AA: 2867/24782)
Row 4083611 (NC_000001.11:93816670:AAA: 661/24782)...

- Oct 12, 2022 (156)
77 ALFA NC_000001.11 - 93816671 Apr 25, 2021 (155)
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).

Associated ID History Updated (Build)
rs72079102 May 11, 2012 (137)
rs72568971 May 11, 2012 (137)
rs397980848 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss3998292584 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAA:

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3998292583 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAA:

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3998292582 NC_000001.11:93816670:AAAAAAAAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3998292581 NC_000001.11:93816670:AAAAAAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3998292580, ss5243187352 NC_000001.11:93816670:AAAAAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3998292579 NC_000001.11:93816670:AAAAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3998292578 NC_000001.11:93816670:AAAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3998292577 NC_000001.11:93816670:AAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3998292576 NC_000001.11:93816670:AAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss2987242558, ss5145136553 NC_000001.10:94282226:AAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292575, ss5243187350, ss5444152274, ss5670246507 NC_000001.11:93816670:AAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3783485339, ss3789131945, ss3794004770, ss5145136552, ss5626055886 NC_000001.10:94282226:AA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5444152271, ss5670246506 NC_000001.11:93816670:AA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss82094609 NC_000001.8:93994271:A: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294592479 NC_000001.9:94054814:A: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294592480 NC_000001.9:94054838:A: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5145136551 NC_000001.10:94282226:A: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5444152272, ss5670246505 NC_000001.11:93816670:A: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95236949 NT_032977.9:64254168:A: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5145136554 NC_000001.10:94282226::A NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292565, ss5444152273, ss5670246508 NC_000001.11:93816670::A NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
9065272794 NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292566 NC_000001.11:93816670::AA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292567 NC_000001.11:93816670::AAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292568 NC_000001.11:93816670::AAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5145136555 NC_000001.10:94282226::AAAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292569, ss5243187351, ss5670246509 NC_000001.11:93816670::AAAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292570 NC_000001.11:93816670::AAAAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292571 NC_000001.11:93816670::AAAAAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292572 NC_000001.11:93816670::AAAAAAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292573 NC_000001.11:93816670::AAAAAAAAA NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3998292574 NC_000001.11:93816670::AAAAAAAAAAA…

NC_000001.11:93816670::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3083602103 NC_000001.11:93816670:AAAAAAAAAA: NC_000001.11:93816670:AAAAAAAAAAAA…

NC_000001.11:93816670:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

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 rs60051218

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