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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.

rs529243634

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:76432672-76432691 (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(T)8 / del(T)7 / del(T)6 / del(…

del(T)8 / del(T)7 / del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)9 / dup(T)10 / dup(T)20

Variation Type
Indel Insertion and Deletion
Frequency
dupTTT=0.0460 (453/9847, ALFA)
delT=0.0242 (121/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ESRRB : 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 9847 TTTTTTTTTTTTTTTTTTTT=0.9097 TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0073, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0031, TTTTTTTTTTTTTTTTTTTTTT=0.0333, TTTTTTTTTTTTTTTTTTTTTTT=0.0460, TTTTTTTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.93065 0.018814 0.050536 32
European Sub 8541 TTTTTTTTTTTTTTTTTTTT=0.8960 TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0084, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0036, TTTTTTTTTTTTTTTTTTTTTT=0.0384, TTTTTTTTTTTTTTTTTTTTTTT=0.0529, TTTTTTTTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.919347 0.02195 0.058703 32
African Sub 580 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 20 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 560 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 56 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 40 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 76 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 334 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 52 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 208 TTTTTTTTTTTTTTTTTTTT=0.995 TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.005, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 0.990385 0.0 0.009615 0


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 9847 (T)20=0.9097 del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0073, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0031, dupTT=0.0333, dupTTT=0.0460, dup(T)4=0.0005, dup(T)5=0.0000, dup(T)6=0.0000
Allele Frequency Aggregator European Sub 8541 (T)20=0.8960 del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0084, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0036, dupTT=0.0384, dupTTT=0.0529, dup(T)4=0.0006, dup(T)5=0.0000, dup(T)6=0.0000
Allele Frequency Aggregator African Sub 580 (T)20=1.000 del(T)8=0.000, del(T)7=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000
Allele Frequency Aggregator Latin American 2 Sub 334 (T)20=1.000 del(T)8=0.000, del(T)7=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000
Allele Frequency Aggregator Other Sub 208 (T)20=0.995 del(T)8=0.000, del(T)7=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.005, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000
Allele Frequency Aggregator Latin American 1 Sub 76 (T)20=1.00 del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00
Allele Frequency Aggregator Asian Sub 56 (T)20=1.00 del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00
Allele Frequency Aggregator South Asian Sub 52 (T)20=1.00 del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00
1000Genomes Global Study-wide 5008 (T)20=0.9758 delT=0.0242
1000Genomes African Sub 1322 (T)20=0.9788 delT=0.0212
1000Genomes East Asian Sub 1008 (T)20=0.9692 delT=0.0308
1000Genomes Europe Sub 1006 (T)20=0.9712 delT=0.0288
1000Genomes South Asian Sub 978 (T)20=0.978 delT=0.022
1000Genomes American Sub 694 (T)20=0.984 delT=0.016
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 14 NC_000014.9:g.76432684_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432685_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432686_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432687_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432688_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432689_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432690_76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432691del
GRCh38.p14 chr 14 NC_000014.9:g.76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432690_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432689_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432688_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432687_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432686_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432685_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432683_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432682_76432691dup
GRCh38.p14 chr 14 NC_000014.9:g.76432672_76432691dup
GRCh37.p13 chr 14 NC_000014.8:g.76899027_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899028_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899029_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899030_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899031_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899032_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899033_76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899034del
GRCh37.p13 chr 14 NC_000014.8:g.76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899033_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899032_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899031_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899030_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899029_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899028_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899026_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899025_76899034dup
GRCh37.p13 chr 14 NC_000014.8:g.76899015_76899034dup
ESRRB RefSeqGene NG_012278.2:g.66338_66345del
ESRRB RefSeqGene NG_012278.2:g.66339_66345del
ESRRB RefSeqGene NG_012278.2:g.66340_66345del
ESRRB RefSeqGene NG_012278.2:g.66341_66345del
ESRRB RefSeqGene NG_012278.2:g.66342_66345del
ESRRB RefSeqGene NG_012278.2:g.66343_66345del
ESRRB RefSeqGene NG_012278.2:g.66344_66345del
ESRRB RefSeqGene NG_012278.2:g.66345del
ESRRB RefSeqGene NG_012278.2:g.66345dup
ESRRB RefSeqGene NG_012278.2:g.66344_66345dup
ESRRB RefSeqGene NG_012278.2:g.66343_66345dup
ESRRB RefSeqGene NG_012278.2:g.66342_66345dup
ESRRB RefSeqGene NG_012278.2:g.66341_66345dup
ESRRB RefSeqGene NG_012278.2:g.66340_66345dup
ESRRB RefSeqGene NG_012278.2:g.66339_66345dup
ESRRB RefSeqGene NG_012278.2:g.66337_66345dup
ESRRB RefSeqGene NG_012278.2:g.66336_66345dup
ESRRB RefSeqGene NG_012278.2:g.66326_66345dup
Gene: ESRRB, estrogen related receptor beta (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ESRRB transcript variant 2 NM_001379180.1:c.51-6657_…

NM_001379180.1:c.51-6657_51-6650del

N/A Intron Variant
ESRRB transcript variant 1 NM_004452.4:c.-13-6657_-1…

NM_004452.4:c.-13-6657_-13-6650del

N/A Intron Variant
ESRRB transcript variant X1 XM_011536547.3:c.51-6657_…

XM_011536547.3:c.51-6657_51-6650del

N/A Intron Variant
ESRRB transcript variant X3 XM_011536550.3:c.-13-6657…

XM_011536550.3:c.-13-6657_-13-6650del

N/A Intron Variant
ESRRB transcript variant X4 XM_011536553.3:c.51-6657_…

XM_011536553.3:c.51-6657_51-6650del

N/A Intron Variant
ESRRB transcript variant X5 XM_011536554.3:c.51-6657_…

XM_011536554.3:c.51-6657_51-6650del

N/A Intron Variant
ESRRB transcript variant X6 XM_024449508.2:c.51-6657_…

XM_024449508.2:c.51-6657_51-6650del

N/A Intron Variant
ESRRB transcript variant X2 XM_047431079.1:c.-13-6657…

XM_047431079.1:c.-13-6657_-13-6650del

N/A Intron Variant
ESRRB transcript variant X7 XM_047431080.1:c.3-6657_3…

XM_047431080.1:c.3-6657_3-6650del

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 (T)20= del(T)8 del(T)7 del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)9 dup(T)10 dup(T)20
GRCh38.p14 chr 14 NC_000014.9:g.76432672_76432691= NC_000014.9:g.76432684_76432691del NC_000014.9:g.76432685_76432691del NC_000014.9:g.76432686_76432691del NC_000014.9:g.76432687_76432691del NC_000014.9:g.76432688_76432691del NC_000014.9:g.76432689_76432691del NC_000014.9:g.76432690_76432691del NC_000014.9:g.76432691del NC_000014.9:g.76432691dup NC_000014.9:g.76432690_76432691dup NC_000014.9:g.76432689_76432691dup NC_000014.9:g.76432688_76432691dup NC_000014.9:g.76432687_76432691dup NC_000014.9:g.76432686_76432691dup NC_000014.9:g.76432685_76432691dup NC_000014.9:g.76432683_76432691dup NC_000014.9:g.76432682_76432691dup NC_000014.9:g.76432672_76432691dup
GRCh37.p13 chr 14 NC_000014.8:g.76899015_76899034= NC_000014.8:g.76899027_76899034del NC_000014.8:g.76899028_76899034del NC_000014.8:g.76899029_76899034del NC_000014.8:g.76899030_76899034del NC_000014.8:g.76899031_76899034del NC_000014.8:g.76899032_76899034del NC_000014.8:g.76899033_76899034del NC_000014.8:g.76899034del NC_000014.8:g.76899034dup NC_000014.8:g.76899033_76899034dup NC_000014.8:g.76899032_76899034dup NC_000014.8:g.76899031_76899034dup NC_000014.8:g.76899030_76899034dup NC_000014.8:g.76899029_76899034dup NC_000014.8:g.76899028_76899034dup NC_000014.8:g.76899026_76899034dup NC_000014.8:g.76899025_76899034dup NC_000014.8:g.76899015_76899034dup
ESRRB RefSeqGene NG_012278.2:g.66326_66345= NG_012278.2:g.66338_66345del NG_012278.2:g.66339_66345del NG_012278.2:g.66340_66345del NG_012278.2:g.66341_66345del NG_012278.2:g.66342_66345del NG_012278.2:g.66343_66345del NG_012278.2:g.66344_66345del NG_012278.2:g.66345del NG_012278.2:g.66345dup NG_012278.2:g.66344_66345dup NG_012278.2:g.66343_66345dup NG_012278.2:g.66342_66345dup NG_012278.2:g.66341_66345dup NG_012278.2:g.66340_66345dup NG_012278.2:g.66339_66345dup NG_012278.2:g.66337_66345dup NG_012278.2:g.66336_66345dup NG_012278.2:g.66326_66345dup
ESRRB transcript variant 2 NM_001379180.1:c.51-6669= NM_001379180.1:c.51-6657_51-6650del NM_001379180.1:c.51-6656_51-6650del NM_001379180.1:c.51-6655_51-6650del NM_001379180.1:c.51-6654_51-6650del NM_001379180.1:c.51-6653_51-6650del NM_001379180.1:c.51-6652_51-6650del NM_001379180.1:c.51-6651_51-6650del NM_001379180.1:c.51-6650del NM_001379180.1:c.51-6650dup NM_001379180.1:c.51-6651_51-6650dup NM_001379180.1:c.51-6652_51-6650dup NM_001379180.1:c.51-6653_51-6650dup NM_001379180.1:c.51-6654_51-6650dup NM_001379180.1:c.51-6655_51-6650dup NM_001379180.1:c.51-6656_51-6650dup NM_001379180.1:c.51-6658_51-6650dup NM_001379180.1:c.51-6659_51-6650dup NM_001379180.1:c.51-6669_51-6650dup
ESRRB transcript NM_004452.3:c.-13-6669= NM_004452.3:c.-13-6657_-13-6650del NM_004452.3:c.-13-6656_-13-6650del NM_004452.3:c.-13-6655_-13-6650del NM_004452.3:c.-13-6654_-13-6650del NM_004452.3:c.-13-6653_-13-6650del NM_004452.3:c.-13-6652_-13-6650del NM_004452.3:c.-13-6651_-13-6650del NM_004452.3:c.-13-6650del NM_004452.3:c.-13-6650dup NM_004452.3:c.-13-6651_-13-6650dup NM_004452.3:c.-13-6652_-13-6650dup NM_004452.3:c.-13-6653_-13-6650dup NM_004452.3:c.-13-6654_-13-6650dup NM_004452.3:c.-13-6655_-13-6650dup NM_004452.3:c.-13-6656_-13-6650dup NM_004452.3:c.-13-6658_-13-6650dup NM_004452.3:c.-13-6659_-13-6650dup NM_004452.3:c.-13-6669_-13-6650dup
ESRRB transcript variant 1 NM_004452.4:c.-13-6669= NM_004452.4:c.-13-6657_-13-6650del NM_004452.4:c.-13-6656_-13-6650del NM_004452.4:c.-13-6655_-13-6650del NM_004452.4:c.-13-6654_-13-6650del NM_004452.4:c.-13-6653_-13-6650del NM_004452.4:c.-13-6652_-13-6650del NM_004452.4:c.-13-6651_-13-6650del NM_004452.4:c.-13-6650del NM_004452.4:c.-13-6650dup NM_004452.4:c.-13-6651_-13-6650dup NM_004452.4:c.-13-6652_-13-6650dup NM_004452.4:c.-13-6653_-13-6650dup NM_004452.4:c.-13-6654_-13-6650dup NM_004452.4:c.-13-6655_-13-6650dup NM_004452.4:c.-13-6656_-13-6650dup NM_004452.4:c.-13-6658_-13-6650dup NM_004452.4:c.-13-6659_-13-6650dup NM_004452.4:c.-13-6669_-13-6650dup
ESRRB transcript variant X1 XM_005267403.1:c.51-6669= XM_005267403.1:c.51-6657_51-6650del XM_005267403.1:c.51-6656_51-6650del XM_005267403.1:c.51-6655_51-6650del XM_005267403.1:c.51-6654_51-6650del XM_005267403.1:c.51-6653_51-6650del XM_005267403.1:c.51-6652_51-6650del XM_005267403.1:c.51-6651_51-6650del XM_005267403.1:c.51-6650del XM_005267403.1:c.51-6650dup XM_005267403.1:c.51-6651_51-6650dup XM_005267403.1:c.51-6652_51-6650dup XM_005267403.1:c.51-6653_51-6650dup XM_005267403.1:c.51-6654_51-6650dup XM_005267403.1:c.51-6655_51-6650dup XM_005267403.1:c.51-6656_51-6650dup XM_005267403.1:c.51-6658_51-6650dup XM_005267403.1:c.51-6659_51-6650dup XM_005267403.1:c.51-6669_51-6650dup
ESRRB transcript variant X2 XM_005267404.1:c.51-6669= XM_005267404.1:c.51-6657_51-6650del XM_005267404.1:c.51-6656_51-6650del XM_005267404.1:c.51-6655_51-6650del XM_005267404.1:c.51-6654_51-6650del XM_005267404.1:c.51-6653_51-6650del XM_005267404.1:c.51-6652_51-6650del XM_005267404.1:c.51-6651_51-6650del XM_005267404.1:c.51-6650del XM_005267404.1:c.51-6650dup XM_005267404.1:c.51-6651_51-6650dup XM_005267404.1:c.51-6652_51-6650dup XM_005267404.1:c.51-6653_51-6650dup XM_005267404.1:c.51-6654_51-6650dup XM_005267404.1:c.51-6655_51-6650dup XM_005267404.1:c.51-6656_51-6650dup XM_005267404.1:c.51-6658_51-6650dup XM_005267404.1:c.51-6659_51-6650dup XM_005267404.1:c.51-6669_51-6650dup
ESRRB transcript variant X1 XM_011536547.3:c.51-6669= XM_011536547.3:c.51-6657_51-6650del XM_011536547.3:c.51-6656_51-6650del XM_011536547.3:c.51-6655_51-6650del XM_011536547.3:c.51-6654_51-6650del XM_011536547.3:c.51-6653_51-6650del XM_011536547.3:c.51-6652_51-6650del XM_011536547.3:c.51-6651_51-6650del XM_011536547.3:c.51-6650del XM_011536547.3:c.51-6650dup XM_011536547.3:c.51-6651_51-6650dup XM_011536547.3:c.51-6652_51-6650dup XM_011536547.3:c.51-6653_51-6650dup XM_011536547.3:c.51-6654_51-6650dup XM_011536547.3:c.51-6655_51-6650dup XM_011536547.3:c.51-6656_51-6650dup XM_011536547.3:c.51-6658_51-6650dup XM_011536547.3:c.51-6659_51-6650dup XM_011536547.3:c.51-6669_51-6650dup
ESRRB transcript variant X3 XM_011536550.3:c.-13-6669= XM_011536550.3:c.-13-6657_-13-6650del XM_011536550.3:c.-13-6656_-13-6650del XM_011536550.3:c.-13-6655_-13-6650del XM_011536550.3:c.-13-6654_-13-6650del XM_011536550.3:c.-13-6653_-13-6650del XM_011536550.3:c.-13-6652_-13-6650del XM_011536550.3:c.-13-6651_-13-6650del XM_011536550.3:c.-13-6650del XM_011536550.3:c.-13-6650dup XM_011536550.3:c.-13-6651_-13-6650dup XM_011536550.3:c.-13-6652_-13-6650dup XM_011536550.3:c.-13-6653_-13-6650dup XM_011536550.3:c.-13-6654_-13-6650dup XM_011536550.3:c.-13-6655_-13-6650dup XM_011536550.3:c.-13-6656_-13-6650dup XM_011536550.3:c.-13-6658_-13-6650dup XM_011536550.3:c.-13-6659_-13-6650dup XM_011536550.3:c.-13-6669_-13-6650dup
ESRRB transcript variant X4 XM_011536553.3:c.51-6669= XM_011536553.3:c.51-6657_51-6650del XM_011536553.3:c.51-6656_51-6650del XM_011536553.3:c.51-6655_51-6650del XM_011536553.3:c.51-6654_51-6650del XM_011536553.3:c.51-6653_51-6650del XM_011536553.3:c.51-6652_51-6650del XM_011536553.3:c.51-6651_51-6650del XM_011536553.3:c.51-6650del XM_011536553.3:c.51-6650dup XM_011536553.3:c.51-6651_51-6650dup XM_011536553.3:c.51-6652_51-6650dup XM_011536553.3:c.51-6653_51-6650dup XM_011536553.3:c.51-6654_51-6650dup XM_011536553.3:c.51-6655_51-6650dup XM_011536553.3:c.51-6656_51-6650dup XM_011536553.3:c.51-6658_51-6650dup XM_011536553.3:c.51-6659_51-6650dup XM_011536553.3:c.51-6669_51-6650dup
ESRRB transcript variant X5 XM_011536554.3:c.51-6669= XM_011536554.3:c.51-6657_51-6650del XM_011536554.3:c.51-6656_51-6650del XM_011536554.3:c.51-6655_51-6650del XM_011536554.3:c.51-6654_51-6650del XM_011536554.3:c.51-6653_51-6650del XM_011536554.3:c.51-6652_51-6650del XM_011536554.3:c.51-6651_51-6650del XM_011536554.3:c.51-6650del XM_011536554.3:c.51-6650dup XM_011536554.3:c.51-6651_51-6650dup XM_011536554.3:c.51-6652_51-6650dup XM_011536554.3:c.51-6653_51-6650dup XM_011536554.3:c.51-6654_51-6650dup XM_011536554.3:c.51-6655_51-6650dup XM_011536554.3:c.51-6656_51-6650dup XM_011536554.3:c.51-6658_51-6650dup XM_011536554.3:c.51-6659_51-6650dup XM_011536554.3:c.51-6669_51-6650dup
ESRRB transcript variant X6 XM_024449508.2:c.51-6669= XM_024449508.2:c.51-6657_51-6650del XM_024449508.2:c.51-6656_51-6650del XM_024449508.2:c.51-6655_51-6650del XM_024449508.2:c.51-6654_51-6650del XM_024449508.2:c.51-6653_51-6650del XM_024449508.2:c.51-6652_51-6650del XM_024449508.2:c.51-6651_51-6650del XM_024449508.2:c.51-6650del XM_024449508.2:c.51-6650dup XM_024449508.2:c.51-6651_51-6650dup XM_024449508.2:c.51-6652_51-6650dup XM_024449508.2:c.51-6653_51-6650dup XM_024449508.2:c.51-6654_51-6650dup XM_024449508.2:c.51-6655_51-6650dup XM_024449508.2:c.51-6656_51-6650dup XM_024449508.2:c.51-6658_51-6650dup XM_024449508.2:c.51-6659_51-6650dup XM_024449508.2:c.51-6669_51-6650dup
ESRRB transcript variant X2 XM_047431079.1:c.-13-6669= XM_047431079.1:c.-13-6657_-13-6650del XM_047431079.1:c.-13-6656_-13-6650del XM_047431079.1:c.-13-6655_-13-6650del XM_047431079.1:c.-13-6654_-13-6650del XM_047431079.1:c.-13-6653_-13-6650del XM_047431079.1:c.-13-6652_-13-6650del XM_047431079.1:c.-13-6651_-13-6650del XM_047431079.1:c.-13-6650del XM_047431079.1:c.-13-6650dup XM_047431079.1:c.-13-6651_-13-6650dup XM_047431079.1:c.-13-6652_-13-6650dup XM_047431079.1:c.-13-6653_-13-6650dup XM_047431079.1:c.-13-6654_-13-6650dup XM_047431079.1:c.-13-6655_-13-6650dup XM_047431079.1:c.-13-6656_-13-6650dup XM_047431079.1:c.-13-6658_-13-6650dup XM_047431079.1:c.-13-6659_-13-6650dup XM_047431079.1:c.-13-6669_-13-6650dup
ESRRB transcript variant X7 XM_047431080.1:c.3-6669= XM_047431080.1:c.3-6657_3-6650del XM_047431080.1:c.3-6656_3-6650del XM_047431080.1:c.3-6655_3-6650del XM_047431080.1:c.3-6654_3-6650del XM_047431080.1:c.3-6653_3-6650del XM_047431080.1:c.3-6652_3-6650del XM_047431080.1:c.3-6651_3-6650del XM_047431080.1:c.3-6650del XM_047431080.1:c.3-6650dup XM_047431080.1:c.3-6651_3-6650dup XM_047431080.1:c.3-6652_3-6650dup XM_047431080.1:c.3-6653_3-6650dup XM_047431080.1:c.3-6654_3-6650dup XM_047431080.1:c.3-6655_3-6650dup XM_047431080.1:c.3-6656_3-6650dup XM_047431080.1:c.3-6658_3-6650dup XM_047431080.1:c.3-6659_3-6650dup XM_047431080.1:c.3-6669_3-6650dup
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#.

61 SubSNP, 36 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss83788152 Aug 21, 2014 (142)
2 SSMP ss664243691 Apr 01, 2015 (144)
3 1000GENOMES ss1374310489 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1708126248 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1708126299 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1710644581 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1710644583 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710644607 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710644609 Apr 01, 2015 (144)
10 SWEGEN ss3012482623 Nov 08, 2017 (151)
11 MCHAISSO ss3063800737 Nov 08, 2017 (151)
12 EVA_DECODE ss3697021326 Jul 13, 2019 (153)
13 EVA_DECODE ss3697021327 Jul 13, 2019 (153)
14 EVA_DECODE ss3697021328 Jul 13, 2019 (153)
15 EVA_DECODE ss3697021329 Jul 13, 2019 (153)
16 EVA_DECODE ss3697021330 Jul 13, 2019 (153)
17 PACBIO ss3787713903 Jul 13, 2019 (153)
18 PACBIO ss3792744332 Jul 13, 2019 (153)
19 PACBIO ss3792744333 Jul 13, 2019 (153)
20 PACBIO ss3797628729 Jul 13, 2019 (153)
21 PACBIO ss3797628730 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3817861035 Jul 13, 2019 (153)
23 EVA ss3834008192 Apr 27, 2020 (154)
24 GNOMAD ss4281026129 Apr 26, 2021 (155)
25 GNOMAD ss4281026134 Apr 26, 2021 (155)
26 GNOMAD ss4281026135 Apr 26, 2021 (155)
27 GNOMAD ss4281026136 Apr 26, 2021 (155)
28 GNOMAD ss4281026137 Apr 26, 2021 (155)
29 GNOMAD ss4281026138 Apr 26, 2021 (155)
30 GNOMAD ss4281026139 Apr 26, 2021 (155)
31 GNOMAD ss4281026140 Apr 26, 2021 (155)
32 GNOMAD ss4281026141 Apr 26, 2021 (155)
33 GNOMAD ss4281026142 Apr 26, 2021 (155)
34 GNOMAD ss4281026144 Apr 26, 2021 (155)
35 GNOMAD ss4281026145 Apr 26, 2021 (155)
36 GNOMAD ss4281026146 Apr 26, 2021 (155)
37 GNOMAD ss4281026147 Apr 26, 2021 (155)
38 GNOMAD ss4281026148 Apr 26, 2021 (155)
39 GNOMAD ss4281026149 Apr 26, 2021 (155)
40 GNOMAD ss4281026150 Apr 26, 2021 (155)
41 GNOMAD ss4281026151 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5214012391 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5214012392 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5214012393 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5214012394 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5214012395 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5214012396 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5296826687 Oct 16, 2022 (156)
49 HUGCELL_USP ss5490812152 Oct 16, 2022 (156)
50 HUGCELL_USP ss5490812153 Oct 16, 2022 (156)
51 HUGCELL_USP ss5490812154 Oct 16, 2022 (156)
52 HUGCELL_USP ss5490812155 Oct 16, 2022 (156)
53 HUGCELL_USP ss5490812156 Oct 16, 2022 (156)
54 HUGCELL_USP ss5490812157 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5767044222 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5767044223 Oct 16, 2022 (156)
57 TOMMO_GENOMICS ss5767044224 Oct 16, 2022 (156)
58 TOMMO_GENOMICS ss5767044225 Oct 16, 2022 (156)
59 EVA ss5841348327 Oct 16, 2022 (156)
60 EVA ss5841348328 Oct 16, 2022 (156)
61 EVA ss5841348329 Oct 16, 2022 (156)
62 1000Genomes NC_000014.8 - 76899015 Oct 12, 2018 (152)
63 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35953665 (NC_000014.8:76899014::TT 3080/3854)
Row 35953666 (NC_000014.8:76899014:TTTT: 313/3854)
Row 35953667 (NC_000014.8:76899014::TTT 409/3854)

- Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35953665 (NC_000014.8:76899014::TT 3080/3854)
Row 35953666 (NC_000014.8:76899014:TTTT: 313/3854)
Row 35953667 (NC_000014.8:76899014::TTT 409/3854)

- Oct 12, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35953665 (NC_000014.8:76899014::TT 3080/3854)
Row 35953666 (NC_000014.8:76899014:TTTT: 313/3854)
Row 35953667 (NC_000014.8:76899014::TTT 409/3854)

- Oct 12, 2018 (152)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 456164207 (NC_000014.9:76432671::T 480/102884)
Row 456164212 (NC_000014.9:76432671::TT 6079/102788)
Row 456164213 (NC_000014.9:76432671::TTT 17329/102732)...

- Apr 26, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 71981698 (NC_000014.8:76899014::TT 3249/15830)
Row 71981699 (NC_000014.8:76899014::TTT 1559/15830)
Row 71981700 (NC_000014.8:76899014:T: 12/15830)...

- Apr 26, 2021 (155)
85 8.3KJPN

Submission ignored due to conflicting rows:
Row 71981698 (NC_000014.8:76899014::TT 3249/15830)
Row 71981699 (NC_000014.8:76899014::TTT 1559/15830)
Row 71981700 (NC_000014.8:76899014:T: 12/15830)...

- Apr 26, 2021 (155)
86 8.3KJPN

Submission ignored due to conflicting rows:
Row 71981698 (NC_000014.8:76899014::TT 3249/15830)
Row 71981699 (NC_000014.8:76899014::TTT 1559/15830)
Row 71981700 (NC_000014.8:76899014:T: 12/15830)...

- Apr 26, 2021 (155)
87 8.3KJPN

Submission ignored due to conflicting rows:
Row 71981698 (NC_000014.8:76899014::TT 3249/15830)
Row 71981699 (NC_000014.8:76899014::TTT 1559/15830)
Row 71981700 (NC_000014.8:76899014:T: 12/15830)...

- Apr 26, 2021 (155)
88 8.3KJPN

Submission ignored due to conflicting rows:
Row 71981698 (NC_000014.8:76899014::TT 3249/15830)
Row 71981699 (NC_000014.8:76899014::TTT 1559/15830)
Row 71981700 (NC_000014.8:76899014:T: 12/15830)...

- Apr 26, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 71981698 (NC_000014.8:76899014::TT 3249/15830)
Row 71981699 (NC_000014.8:76899014::TTT 1559/15830)
Row 71981700 (NC_000014.8:76899014:T: 12/15830)...

- Apr 26, 2021 (155)
90 14KJPN

Submission ignored due to conflicting rows:
Row 100881326 (NC_000014.9:76432671::TT 4808/24982)
Row 100881327 (NC_000014.9:76432671::T 31/24982)
Row 100881328 (NC_000014.9:76432671::TTT 2195/24982)...

- Oct 16, 2022 (156)
91 14KJPN

Submission ignored due to conflicting rows:
Row 100881326 (NC_000014.9:76432671::TT 4808/24982)
Row 100881327 (NC_000014.9:76432671::T 31/24982)
Row 100881328 (NC_000014.9:76432671::TTT 2195/24982)...

- Oct 16, 2022 (156)
92 14KJPN

Submission ignored due to conflicting rows:
Row 100881326 (NC_000014.9:76432671::TT 4808/24982)
Row 100881327 (NC_000014.9:76432671::T 31/24982)
Row 100881328 (NC_000014.9:76432671::TTT 2195/24982)...

- Oct 16, 2022 (156)
93 14KJPN

Submission ignored due to conflicting rows:
Row 100881326 (NC_000014.9:76432671::TT 4808/24982)
Row 100881327 (NC_000014.9:76432671::T 31/24982)
Row 100881328 (NC_000014.9:76432671::TTT 2195/24982)...

- Oct 16, 2022 (156)
94 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35953665 (NC_000014.8:76899014::TT 3014/3708)
Row 35953666 (NC_000014.8:76899014:TTTT: 286/3708)
Row 35953667 (NC_000014.8:76899014::TTT 381/3708)

- Oct 12, 2018 (152)
95 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35953665 (NC_000014.8:76899014::TT 3014/3708)
Row 35953666 (NC_000014.8:76899014:TTTT: 286/3708)
Row 35953667 (NC_000014.8:76899014::TTT 381/3708)

- Oct 12, 2018 (152)
96 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35953665 (NC_000014.8:76899014::TT 3014/3708)
Row 35953666 (NC_000014.8:76899014:TTTT: 286/3708)
Row 35953667 (NC_000014.8:76899014::TTT 381/3708)

- Oct 12, 2018 (152)
97 ALFA NC_000014.9 - 76432672 Apr 26, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4281026151 NC_000014.9:76432671:TTTTTTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4281026150 NC_000014.9:76432671:TTTTTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss83788152 NC_000014.7:75968781:TTTTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4281026149 NC_000014.9:76432671:TTTTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4281026148 NC_000014.9:76432671:TTTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss1708126248, ss1708126299, ss3012482623, ss3792744332, ss3797628729, ss5214012395, ss5841348327 NC_000014.8:76899014:TTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3697021326, ss4281026147, ss5490812157, ss5767044225 NC_000014.9:76432671:TTTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4281026146 NC_000014.9:76432671:TTT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4281026145 NC_000014.9:76432671:TT: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
64697609, ss1374310489, ss3787713903, ss3792744333, ss3797628730, ss5214012393 NC_000014.8:76899014:T: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3817861035, ss4281026144, ss5490812154 NC_000014.9:76432671:T: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3697021327 NC_000014.9:76432674:T: NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss5214012394 NC_000014.8:76899014::T NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026129, ss5490812152, ss5767044223 NC_000014.9:76432671::T NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3697021328 NC_000014.9:76432675::T NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5214012391 NC_000014.8:76899014::TT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss1710644581, ss1710644607 NC_000014.8:76899018::TT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3063800737, ss4281026134, ss5296826687, ss5490812155, ss5767044222 NC_000014.9:76432671::TT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3697021329 NC_000014.9:76432675::TT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss664243691, ss5214012392, ss5841348328 NC_000014.8:76899014::TTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss1710644583, ss1710644609 NC_000014.8:76899018::TTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026135, ss5490812153, ss5767044224 NC_000014.9:76432671::TTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3697021330 NC_000014.9:76432675::TTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3834008192, ss5214012396, ss5841348329 NC_000014.8:76899014::TTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026136, ss5490812156 NC_000014.9:76432671::TTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026137 NC_000014.9:76432671::TTTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026138 NC_000014.9:76432671::TTTTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
3026603054 NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026139 NC_000014.9:76432671::TTTTTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026140 NC_000014.9:76432671::TTTTTTTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026141 NC_000014.9:76432671::TTTTTTTTTT NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4281026142 NC_000014.9:76432671::TTTTTTTTTTTT…

NC_000014.9:76432671::TTTTTTTTTTTTTTTTTTTT

NC_000014.9:76432671:TTTTTTTTTTTTT…

NC_000014.9:76432671:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
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 rs529243634

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