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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.

rs34666221

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:143602096-143602113 (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)9 / del(A)8 / del(A)7 / del(…

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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.0000 (0/1488, ALFA)
del(A)7=0.0000 (0/1488, ALFA)
del(A)6=0.0000 (0/1488, ALFA) (+ 12 more)
del(A)5=0.0000 (0/1488, ALFA)
del(A)4=0.0000 (0/1488, ALFA)
delAAA=0.0000 (0/1488, ALFA)
delAA=0.0000 (0/1488, ALFA)
delA=0.0000 (0/1488, ALFA)
dupA=0.0000 (0/1488, ALFA)
dupAA=0.0000 (0/1488, ALFA)
dupAAA=0.0000 (0/1488, ALFA)
dup(A)4=0.0000 (0/1488, ALFA)
dup(A)5=0.0000 (0/1488, ALFA)
dup(A)6=0.0000 (0/1488, ALFA)
dup(A)7=0.0000 (0/1488, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TIGD5 : 3 Prime UTR 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 1488 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 600 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 698 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 36 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 662 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 34 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 30 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 4 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 14 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 80 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 14 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 48 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=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 1488 (A)18=1.0000 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, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000
Allele Frequency Aggregator African Sub 698 (A)18=1.000 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, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator European Sub 600 (A)18=1.000 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, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator Latin American 2 Sub 80 (A)18=1.00 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, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Other Sub 48 (A)18=1.00 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, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Asian Sub 34 (A)18=1.00 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, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Latin American 1 Sub 14 (A)18=1.00 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, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator South Asian Sub 14 (A)18=1.00 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, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 8 NC_000008.11:g.143602105_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602106_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602107_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602108_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602109_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602110_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602111_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602112_143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602113del
GRCh38.p14 chr 8 NC_000008.11:g.143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602112_143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602111_143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602110_143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602109_143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602108_143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602107_143602113dup
GRCh38.p14 chr 8 NC_000008.11:g.143602106_143602113dup
GRCh37.p13 chr 8 NC_000008.10:g.144684275_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684276_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684277_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684278_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684279_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684280_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684281_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684282_144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684283del
GRCh37.p13 chr 8 NC_000008.10:g.144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684282_144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684281_144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684280_144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684279_144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684278_144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684277_144684283dup
GRCh37.p13 chr 8 NC_000008.10:g.144684276_144684283dup
PYCR3 RefSeqGene NG_051357.1:g.12511_12519del
PYCR3 RefSeqGene NG_051357.1:g.12512_12519del
PYCR3 RefSeqGene NG_051357.1:g.12513_12519del
PYCR3 RefSeqGene NG_051357.1:g.12514_12519del
PYCR3 RefSeqGene NG_051357.1:g.12515_12519del
PYCR3 RefSeqGene NG_051357.1:g.12516_12519del
PYCR3 RefSeqGene NG_051357.1:g.12517_12519del
PYCR3 RefSeqGene NG_051357.1:g.12518_12519del
PYCR3 RefSeqGene NG_051357.1:g.12519del
PYCR3 RefSeqGene NG_051357.1:g.12519dup
PYCR3 RefSeqGene NG_051357.1:g.12518_12519dup
PYCR3 RefSeqGene NG_051357.1:g.12517_12519dup
PYCR3 RefSeqGene NG_051357.1:g.12516_12519dup
PYCR3 RefSeqGene NG_051357.1:g.12515_12519dup
PYCR3 RefSeqGene NG_051357.1:g.12514_12519dup
PYCR3 RefSeqGene NG_051357.1:g.12513_12519dup
PYCR3 RefSeqGene NG_051357.1:g.12512_12519dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92145_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92146_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92147_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92148_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92149_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92150_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92151_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92152_92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92153del
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92152_92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92151_92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92150_92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92149_92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92148_92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92147_92153dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92146_92153dup
Gene: TIGD5, tigger transposable element derived 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TIGD5 transcript NM_032862.5:c.*2264_*2281= N/A 3 Prime UTR Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)18= 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
GRCh38.p14 chr 8 NC_000008.11:g.143602096_143602113= NC_000008.11:g.143602105_143602113del NC_000008.11:g.143602106_143602113del NC_000008.11:g.143602107_143602113del NC_000008.11:g.143602108_143602113del NC_000008.11:g.143602109_143602113del NC_000008.11:g.143602110_143602113del NC_000008.11:g.143602111_143602113del NC_000008.11:g.143602112_143602113del NC_000008.11:g.143602113del NC_000008.11:g.143602113dup NC_000008.11:g.143602112_143602113dup NC_000008.11:g.143602111_143602113dup NC_000008.11:g.143602110_143602113dup NC_000008.11:g.143602109_143602113dup NC_000008.11:g.143602108_143602113dup NC_000008.11:g.143602107_143602113dup NC_000008.11:g.143602106_143602113dup
GRCh37.p13 chr 8 NC_000008.10:g.144684266_144684283= NC_000008.10:g.144684275_144684283del NC_000008.10:g.144684276_144684283del NC_000008.10:g.144684277_144684283del NC_000008.10:g.144684278_144684283del NC_000008.10:g.144684279_144684283del NC_000008.10:g.144684280_144684283del NC_000008.10:g.144684281_144684283del NC_000008.10:g.144684282_144684283del NC_000008.10:g.144684283del NC_000008.10:g.144684283dup NC_000008.10:g.144684282_144684283dup NC_000008.10:g.144684281_144684283dup NC_000008.10:g.144684280_144684283dup NC_000008.10:g.144684279_144684283dup NC_000008.10:g.144684278_144684283dup NC_000008.10:g.144684277_144684283dup NC_000008.10:g.144684276_144684283dup
PYCR3 RefSeqGene NG_051357.1:g.12502_12519= NG_051357.1:g.12511_12519del NG_051357.1:g.12512_12519del NG_051357.1:g.12513_12519del NG_051357.1:g.12514_12519del NG_051357.1:g.12515_12519del NG_051357.1:g.12516_12519del NG_051357.1:g.12517_12519del NG_051357.1:g.12518_12519del NG_051357.1:g.12519del NG_051357.1:g.12519dup NG_051357.1:g.12518_12519dup NG_051357.1:g.12517_12519dup NG_051357.1:g.12516_12519dup NG_051357.1:g.12515_12519dup NG_051357.1:g.12514_12519dup NG_051357.1:g.12513_12519dup NG_051357.1:g.12512_12519dup
GRCh38.p14 chr 8 alt locus HSCHR8_3_CTG7 NT_187571.1:g.92136_92153= NT_187571.1:g.92145_92153del NT_187571.1:g.92146_92153del NT_187571.1:g.92147_92153del NT_187571.1:g.92148_92153del NT_187571.1:g.92149_92153del NT_187571.1:g.92150_92153del NT_187571.1:g.92151_92153del NT_187571.1:g.92152_92153del NT_187571.1:g.92153del NT_187571.1:g.92153dup NT_187571.1:g.92152_92153dup NT_187571.1:g.92151_92153dup NT_187571.1:g.92150_92153dup NT_187571.1:g.92149_92153dup NT_187571.1:g.92148_92153dup NT_187571.1:g.92147_92153dup NT_187571.1:g.92146_92153dup
TIGD5 transcript NM_032862.5:c.*2264_*2281= NM_032862.5:c.*2273_*2281del NM_032862.5:c.*2274_*2281del NM_032862.5:c.*2275_*2281del NM_032862.5:c.*2276_*2281del NM_032862.5:c.*2277_*2281del NM_032862.5:c.*2278_*2281del NM_032862.5:c.*2279_*2281del NM_032862.5:c.*2280_*2281del NM_032862.5:c.*2281del NM_032862.5:c.*2281dup NM_032862.5:c.*2280_*2281dup NM_032862.5:c.*2279_*2281dup NM_032862.5:c.*2278_*2281dup NM_032862.5:c.*2277_*2281dup NM_032862.5:c.*2276_*2281dup NM_032862.5:c.*2275_*2281dup NM_032862.5:c.*2274_*2281dup
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, 32 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss43269155 Mar 14, 2006 (126)
2 HUMANGENOME_JCVI ss95508161 Feb 04, 2009 (130)
3 PJP ss295405690 May 09, 2011 (136)
4 PJP ss295405691 May 31, 2013 (138)
5 SSMP ss663837594 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1706291444 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1706291446 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1706291447 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1706291537 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1706291540 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1706291543 Apr 01, 2015 (144)
12 SWEGEN ss3004200531 Nov 08, 2017 (151)
13 SWEGEN ss3004200532 Nov 08, 2017 (151)
14 SWEGEN ss3004200533 Nov 08, 2017 (151)
15 SWEGEN ss3004200534 Nov 08, 2017 (151)
16 EVA_DECODE ss3723254774 Jul 13, 2019 (153)
17 EVA_DECODE ss3723254775 Jul 13, 2019 (153)
18 EVA_DECODE ss3723254776 Jul 13, 2019 (153)
19 EVA_DECODE ss3723254777 Jul 13, 2019 (153)
20 PACBIO ss3791546480 Jul 13, 2019 (153)
21 PACBIO ss3791546481 Jul 13, 2019 (153)
22 PACBIO ss3796428132 Jul 13, 2019 (153)
23 PACBIO ss3796428133 Jul 13, 2019 (153)
24 EVA ss3831479612 Apr 26, 2020 (154)
25 VINODS ss4027071868 Apr 26, 2021 (155)
26 GNOMAD ss4195536865 Apr 26, 2021 (155)
27 GNOMAD ss4195536866 Apr 26, 2021 (155)
28 GNOMAD ss4195536867 Apr 26, 2021 (155)
29 GNOMAD ss4195536868 Apr 26, 2021 (155)
30 GNOMAD ss4195536869 Apr 26, 2021 (155)
31 GNOMAD ss4195536870 Apr 26, 2021 (155)
32 GNOMAD ss4195536871 Apr 26, 2021 (155)
33 GNOMAD ss4195536872 Apr 26, 2021 (155)
34 GNOMAD ss4195536875 Apr 26, 2021 (155)
35 GNOMAD ss4195536876 Apr 26, 2021 (155)
36 GNOMAD ss4195536877 Apr 26, 2021 (155)
37 GNOMAD ss4195536878 Apr 26, 2021 (155)
38 GNOMAD ss4195536879 Apr 26, 2021 (155)
39 GNOMAD ss4195536880 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5191557194 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5191557195 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5191557196 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5191557197 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5191557198 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5279383461 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5279383462 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5279383463 Oct 16, 2022 (156)
48 1000G_HIGH_COVERAGE ss5279383464 Oct 16, 2022 (156)
49 1000G_HIGH_COVERAGE ss5279383465 Oct 16, 2022 (156)
50 HUGCELL_USP ss5475718510 Oct 16, 2022 (156)
51 HUGCELL_USP ss5475718511 Oct 16, 2022 (156)
52 HUGCELL_USP ss5475718512 Oct 16, 2022 (156)
53 HUGCELL_USP ss5475718514 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5734450700 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5734450701 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5734450702 Oct 16, 2022 (156)
57 TOMMO_GENOMICS ss5734450704 Oct 16, 2022 (156)
58 TOMMO_GENOMICS ss5734450705 Oct 16, 2022 (156)
59 EVA ss5831400433 Oct 16, 2022 (156)
60 EVA ss5831400434 Oct 16, 2022 (156)
61 EVA ss5831400435 Oct 16, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 24846537 (NC_000008.10:144684265::AAAA 816/3854)
Row 24846538 (NC_000008.10:144684265::AAA 2143/3854)
Row 24846539 (NC_000008.10:144684265::AA 761/3854)

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

Submission ignored due to conflicting rows:
Row 24846537 (NC_000008.10:144684265::AAAA 816/3854)
Row 24846538 (NC_000008.10:144684265::AAA 2143/3854)
Row 24846539 (NC_000008.10:144684265::AA 761/3854)

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

Submission ignored due to conflicting rows:
Row 24846537 (NC_000008.10:144684265::AAAA 816/3854)
Row 24846538 (NC_000008.10:144684265::AAA 2143/3854)
Row 24846539 (NC_000008.10:144684265::AA 761/3854)

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

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

Submission ignored due to conflicting rows:
Row 314704160 (NC_000008.11:143602095::A 2232/104254)
Row 314704161 (NC_000008.11:143602095::AA 1216/104282)
Row 314704162 (NC_000008.11:143602095::AAA 68628/103748)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 49526501 (NC_000008.10:144684265::AAA 5302/16202)
Row 49526502 (NC_000008.10:144684265::AAAA 658/16202)
Row 49526503 (NC_000008.10:144684265::AA 40/16202)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 49526501 (NC_000008.10:144684265::AAA 5302/16202)
Row 49526502 (NC_000008.10:144684265::AAAA 658/16202)
Row 49526503 (NC_000008.10:144684265::AA 40/16202)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 49526501 (NC_000008.10:144684265::AAA 5302/16202)
Row 49526502 (NC_000008.10:144684265::AAAA 658/16202)
Row 49526503 (NC_000008.10:144684265::AA 40/16202)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 49526501 (NC_000008.10:144684265::AAA 5302/16202)
Row 49526502 (NC_000008.10:144684265::AAAA 658/16202)
Row 49526503 (NC_000008.10:144684265::AA 40/16202)...

- Apr 26, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 49526501 (NC_000008.10:144684265::AAA 5302/16202)
Row 49526502 (NC_000008.10:144684265::AAAA 658/16202)
Row 49526503 (NC_000008.10:144684265::AA 40/16202)...

- Apr 26, 2021 (155)
85 14KJPN

Submission ignored due to conflicting rows:
Row 68287804 (NC_000008.11:143602095::AA 64/27596)
Row 68287805 (NC_000008.11:143602095::AAAA 1135/27596)
Row 68287806 (NC_000008.11:143602095::AAA 9435/27596)...

- Oct 16, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 68287804 (NC_000008.11:143602095::AA 64/27596)
Row 68287805 (NC_000008.11:143602095::AAAA 1135/27596)
Row 68287806 (NC_000008.11:143602095::AAA 9435/27596)...

- Oct 16, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 68287804 (NC_000008.11:143602095::AA 64/27596)
Row 68287805 (NC_000008.11:143602095::AAAA 1135/27596)
Row 68287806 (NC_000008.11:143602095::AAA 9435/27596)...

- Oct 16, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 68287804 (NC_000008.11:143602095::AA 64/27596)
Row 68287805 (NC_000008.11:143602095::AAAA 1135/27596)
Row 68287806 (NC_000008.11:143602095::AAA 9435/27596)...

- Oct 16, 2022 (156)
89 14KJPN

Submission ignored due to conflicting rows:
Row 68287804 (NC_000008.11:143602095::AA 64/27596)
Row 68287805 (NC_000008.11:143602095::AAAA 1135/27596)
Row 68287806 (NC_000008.11:143602095::AAA 9435/27596)...

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

Submission ignored due to conflicting rows:
Row 24846537 (NC_000008.10:144684265::AAAA 766/3708)
Row 24846538 (NC_000008.10:144684265::AAA 2127/3708)
Row 24846539 (NC_000008.10:144684265::AA 654/3708)

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

Submission ignored due to conflicting rows:
Row 24846537 (NC_000008.10:144684265::AAAA 766/3708)
Row 24846538 (NC_000008.10:144684265::AAA 2127/3708)
Row 24846539 (NC_000008.10:144684265::AA 654/3708)

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

Submission ignored due to conflicting rows:
Row 24846537 (NC_000008.10:144684265::AAAA 766/3708)
Row 24846538 (NC_000008.10:144684265::AAA 2127/3708)
Row 24846539 (NC_000008.10:144684265::AA 654/3708)

- Oct 12, 2018 (152)
93 ALFA NC_000008.11 - 143602096 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).

Associated ID History Updated (Build)
rs67211481 Feb 26, 2009 (130)
rs150629424 Oct 18, 2011 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5191557197 NC_000008.10:144684265:AAAAAAAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss5734450704 NC_000008.11:143602095:AAAAAAAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4195536880 NC_000008.11:143602095:AAAAAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4195536879 NC_000008.11:143602095:AAAAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4195536878 NC_000008.11:143602095:AAAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4195536877 NC_000008.11:143602095:AAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4195536876 NC_000008.11:143602095:AAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4195536875 NC_000008.11:143602095:AA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5191557198 NC_000008.10:144684265:A: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5734450705 NC_000008.11:143602095:A: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3004200534 NC_000008.10:144684265::A NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3723254777, ss4195536865, ss5279383463, ss5475718512 NC_000008.11:143602095::A NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1706291447, ss1706291543, ss3004200532, ss3791546480, ss3796428132, ss5191557196, ss5831400434 NC_000008.10:144684265::AA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3723254776, ss4195536866, ss5279383462, ss5475718514, ss5734450700 NC_000008.11:143602095::AA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss295405690 NC_000008.9:144755409::AAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss295405691 NC_000008.9:144755424::AAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss663837594, ss1706291446, ss1706291540, ss3004200531, ss3791546481, ss3796428133, ss3831479612, ss5191557194, ss5831400433 NC_000008.10:144684265::AAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3723254775, ss4195536867, ss5279383461, ss5475718510, ss5734450702 NC_000008.11:143602095::AAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss43269155, ss95508161 NT_008046.16:57957832::AAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4027071868 NT_187571.1:92135::AAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss1706291444, ss1706291537, ss3004200533, ss5191557195, ss5831400435 NC_000008.10:144684265::AAAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723254774, ss4195536868, ss5279383465, ss5475718511, ss5734450701 NC_000008.11:143602095::AAAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195536869, ss5279383464 NC_000008.11:143602095::AAAAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195536870 NC_000008.11:143602095::AAAAAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195536871 NC_000008.11:143602095::AAAAAAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
7869917770 NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195536872 NC_000008.11:143602095::AAAAAAAA NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3578948691 NC_000008.11:143602095:AAAAAAAA: NC_000008.11:143602095:AAAAAAAAAAA…

NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

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 rs34666221

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