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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.

rs397950608

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:45174635-45174655 (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)13 / del(T)12 / del(T)11 / d…

del(T)13 / del(T)12 / del(T)11 / del(T)10 / del(T)9 / 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)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)14 / dup(T)15 / dup(T)16 / dup(T)19

Variation Type
Indel Insertion and Deletion
Frequency
del(T)13=0.00000 (0/13120, ALFA)
del(T)12=0.00000 (0/13120, ALFA)
del(T)11=0.00000 (0/13120, ALFA) (+ 13 more)
del(T)10=0.00000 (0/13120, ALFA)
del(T)9=0.00000 (0/13120, ALFA)
del(T)8=0.00000 (0/13120, ALFA)
del(T)7=0.00000 (0/13120, ALFA)
del(T)6=0.00000 (0/13120, ALFA)
del(T)5=0.00000 (0/13120, ALFA)
del(T)4=0.00000 (0/13120, ALFA)
delTTT=0.00000 (0/13120, ALFA)
delTT=0.00000 (0/13120, ALFA)
delT=0.00000 (0/13120, ALFA)
dupT=0.00000 (0/13120, ALFA)
dupTT=0.00000 (0/13120, ALFA)
dup(T)4=0.00000 (0/13120, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GTF2F2 : 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 13120 TTTTTTTTTTTTTTTTTTTTT=1.00000 TTTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000 1.0 0.0 0.0 N/A
European Sub 9014 TTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Sub 2782 TTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 106 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African American Sub 2676 TTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 102 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 78 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 140 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 524 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 96 TTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 462 TTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000 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 13120 (T)21=1.00000 del(T)13=0.00000, del(T)12=0.00000, del(T)11=0.00000, del(T)10=0.00000, del(T)9=0.00000, del(T)8=0.00000, del(T)7=0.00000, del(T)6=0.00000, del(T)5=0.00000, del(T)4=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dup(T)4=0.00000
Allele Frequency Aggregator European Sub 9014 (T)21=1.0000 del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator African Sub 2782 (T)21=1.0000 del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator Latin American 2 Sub 524 (T)21=1.000 del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, 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, dup(T)4=0.000
Allele Frequency Aggregator Other Sub 462 (T)21=1.000 del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, 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, dup(T)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 140 (T)21=1.000 del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, 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, dup(T)4=0.000
Allele Frequency Aggregator Asian Sub 102 (T)21=1.000 del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, 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, dup(T)4=0.000
Allele Frequency Aggregator South Asian Sub 96 (T)21=1.00 del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, 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, dup(T)4=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 13 NC_000013.11:g.45174643_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174644_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174645_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174646_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174647_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174648_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174649_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174650_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174651_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174652_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174653_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174654_45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174655del
GRCh38.p14 chr 13 NC_000013.11:g.45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174654_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174653_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174652_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174651_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174650_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174649_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174648_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174647_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174646_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174645_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174644_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174643_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174642_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174641_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174640_45174655dup
GRCh38.p14 chr 13 NC_000013.11:g.45174637_45174655dup
GRCh37.p13 chr 13 NC_000013.10:g.45748778_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748779_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748780_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748781_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748782_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748783_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748784_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748785_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748786_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748787_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748788_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748789_45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748790del
GRCh37.p13 chr 13 NC_000013.10:g.45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748789_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748788_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748787_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748786_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748785_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748784_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748783_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748782_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748781_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748780_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748779_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748778_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748777_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748776_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748775_45748790dup
GRCh37.p13 chr 13 NC_000013.10:g.45748772_45748790dup
Gene: GTF2F2, general transcription factor IIF subunit 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GTF2F2 transcript NM_004128.3:c.304+22812_3…

NM_004128.3:c.304+22812_304+22824del

N/A Intron Variant
GTF2F2 transcript variant X1 XM_011535052.4:c.305-8758…

XM_011535052.4:c.305-8758_305-8746del

N/A Intron Variant
GTF2F2 transcript variant X3 XM_011535053.4:c.305-8758…

XM_011535053.4:c.305-8758_305-8746del

N/A Intron Variant
GTF2F2 transcript variant X2 XM_017020551.2:c. N/A Genic Upstream Transcript 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)21= del(T)13 del(T)12 del(T)11 del(T)10 del(T)9 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)8 dup(T)9 dup(T)10 dup(T)11 dup(T)12 dup(T)13 dup(T)14 dup(T)15 dup(T)16 dup(T)19
GRCh38.p14 chr 13 NC_000013.11:g.45174635_45174655= NC_000013.11:g.45174643_45174655del NC_000013.11:g.45174644_45174655del NC_000013.11:g.45174645_45174655del NC_000013.11:g.45174646_45174655del NC_000013.11:g.45174647_45174655del NC_000013.11:g.45174648_45174655del NC_000013.11:g.45174649_45174655del NC_000013.11:g.45174650_45174655del NC_000013.11:g.45174651_45174655del NC_000013.11:g.45174652_45174655del NC_000013.11:g.45174653_45174655del NC_000013.11:g.45174654_45174655del NC_000013.11:g.45174655del NC_000013.11:g.45174655dup NC_000013.11:g.45174654_45174655dup NC_000013.11:g.45174653_45174655dup NC_000013.11:g.45174652_45174655dup NC_000013.11:g.45174651_45174655dup NC_000013.11:g.45174650_45174655dup NC_000013.11:g.45174649_45174655dup NC_000013.11:g.45174648_45174655dup NC_000013.11:g.45174647_45174655dup NC_000013.11:g.45174646_45174655dup NC_000013.11:g.45174645_45174655dup NC_000013.11:g.45174644_45174655dup NC_000013.11:g.45174643_45174655dup NC_000013.11:g.45174642_45174655dup NC_000013.11:g.45174641_45174655dup NC_000013.11:g.45174640_45174655dup NC_000013.11:g.45174637_45174655dup
GRCh37.p13 chr 13 NC_000013.10:g.45748770_45748790= NC_000013.10:g.45748778_45748790del NC_000013.10:g.45748779_45748790del NC_000013.10:g.45748780_45748790del NC_000013.10:g.45748781_45748790del NC_000013.10:g.45748782_45748790del NC_000013.10:g.45748783_45748790del NC_000013.10:g.45748784_45748790del NC_000013.10:g.45748785_45748790del NC_000013.10:g.45748786_45748790del NC_000013.10:g.45748787_45748790del NC_000013.10:g.45748788_45748790del NC_000013.10:g.45748789_45748790del NC_000013.10:g.45748790del NC_000013.10:g.45748790dup NC_000013.10:g.45748789_45748790dup NC_000013.10:g.45748788_45748790dup NC_000013.10:g.45748787_45748790dup NC_000013.10:g.45748786_45748790dup NC_000013.10:g.45748785_45748790dup NC_000013.10:g.45748784_45748790dup NC_000013.10:g.45748783_45748790dup NC_000013.10:g.45748782_45748790dup NC_000013.10:g.45748781_45748790dup NC_000013.10:g.45748780_45748790dup NC_000013.10:g.45748779_45748790dup NC_000013.10:g.45748778_45748790dup NC_000013.10:g.45748777_45748790dup NC_000013.10:g.45748776_45748790dup NC_000013.10:g.45748775_45748790dup NC_000013.10:g.45748772_45748790dup
GTF2F2 transcript NM_004128.2:c.304+22804= NM_004128.2:c.304+22812_304+22824del NM_004128.2:c.304+22813_304+22824del NM_004128.2:c.304+22814_304+22824del NM_004128.2:c.304+22815_304+22824del NM_004128.2:c.304+22816_304+22824del NM_004128.2:c.304+22817_304+22824del NM_004128.2:c.304+22818_304+22824del NM_004128.2:c.304+22819_304+22824del NM_004128.2:c.304+22820_304+22824del NM_004128.2:c.304+22821_304+22824del NM_004128.2:c.304+22822_304+22824del NM_004128.2:c.304+22823_304+22824del NM_004128.2:c.304+22824del NM_004128.2:c.304+22824dup NM_004128.2:c.304+22823_304+22824dup NM_004128.2:c.304+22822_304+22824dup NM_004128.2:c.304+22821_304+22824dup NM_004128.2:c.304+22820_304+22824dup NM_004128.2:c.304+22819_304+22824dup NM_004128.2:c.304+22818_304+22824dup NM_004128.2:c.304+22817_304+22824dup NM_004128.2:c.304+22816_304+22824dup NM_004128.2:c.304+22815_304+22824dup NM_004128.2:c.304+22814_304+22824dup NM_004128.2:c.304+22813_304+22824dup NM_004128.2:c.304+22812_304+22824dup NM_004128.2:c.304+22811_304+22824dup NM_004128.2:c.304+22810_304+22824dup NM_004128.2:c.304+22809_304+22824dup NM_004128.2:c.304+22806_304+22824dup
GTF2F2 transcript NM_004128.3:c.304+22804= NM_004128.3:c.304+22812_304+22824del NM_004128.3:c.304+22813_304+22824del NM_004128.3:c.304+22814_304+22824del NM_004128.3:c.304+22815_304+22824del NM_004128.3:c.304+22816_304+22824del NM_004128.3:c.304+22817_304+22824del NM_004128.3:c.304+22818_304+22824del NM_004128.3:c.304+22819_304+22824del NM_004128.3:c.304+22820_304+22824del NM_004128.3:c.304+22821_304+22824del NM_004128.3:c.304+22822_304+22824del NM_004128.3:c.304+22823_304+22824del NM_004128.3:c.304+22824del NM_004128.3:c.304+22824dup NM_004128.3:c.304+22823_304+22824dup NM_004128.3:c.304+22822_304+22824dup NM_004128.3:c.304+22821_304+22824dup NM_004128.3:c.304+22820_304+22824dup NM_004128.3:c.304+22819_304+22824dup NM_004128.3:c.304+22818_304+22824dup NM_004128.3:c.304+22817_304+22824dup NM_004128.3:c.304+22816_304+22824dup NM_004128.3:c.304+22815_304+22824dup NM_004128.3:c.304+22814_304+22824dup NM_004128.3:c.304+22813_304+22824dup NM_004128.3:c.304+22812_304+22824dup NM_004128.3:c.304+22811_304+22824dup NM_004128.3:c.304+22810_304+22824dup NM_004128.3:c.304+22809_304+22824dup NM_004128.3:c.304+22806_304+22824dup
GTF2F2 transcript variant X1 XM_011535052.4:c.305-8766= XM_011535052.4:c.305-8758_305-8746del XM_011535052.4:c.305-8757_305-8746del XM_011535052.4:c.305-8756_305-8746del XM_011535052.4:c.305-8755_305-8746del XM_011535052.4:c.305-8754_305-8746del XM_011535052.4:c.305-8753_305-8746del XM_011535052.4:c.305-8752_305-8746del XM_011535052.4:c.305-8751_305-8746del XM_011535052.4:c.305-8750_305-8746del XM_011535052.4:c.305-8749_305-8746del XM_011535052.4:c.305-8748_305-8746del XM_011535052.4:c.305-8747_305-8746del XM_011535052.4:c.305-8746del XM_011535052.4:c.305-8746dup XM_011535052.4:c.305-8747_305-8746dup XM_011535052.4:c.305-8748_305-8746dup XM_011535052.4:c.305-8749_305-8746dup XM_011535052.4:c.305-8750_305-8746dup XM_011535052.4:c.305-8751_305-8746dup XM_011535052.4:c.305-8752_305-8746dup XM_011535052.4:c.305-8753_305-8746dup XM_011535052.4:c.305-8754_305-8746dup XM_011535052.4:c.305-8755_305-8746dup XM_011535052.4:c.305-8756_305-8746dup XM_011535052.4:c.305-8757_305-8746dup XM_011535052.4:c.305-8758_305-8746dup XM_011535052.4:c.305-8759_305-8746dup XM_011535052.4:c.305-8760_305-8746dup XM_011535052.4:c.305-8761_305-8746dup XM_011535052.4:c.305-8764_305-8746dup
GTF2F2 transcript variant X3 XM_011535053.4:c.305-8766= XM_011535053.4:c.305-8758_305-8746del XM_011535053.4:c.305-8757_305-8746del XM_011535053.4:c.305-8756_305-8746del XM_011535053.4:c.305-8755_305-8746del XM_011535053.4:c.305-8754_305-8746del XM_011535053.4:c.305-8753_305-8746del XM_011535053.4:c.305-8752_305-8746del XM_011535053.4:c.305-8751_305-8746del XM_011535053.4:c.305-8750_305-8746del XM_011535053.4:c.305-8749_305-8746del XM_011535053.4:c.305-8748_305-8746del XM_011535053.4:c.305-8747_305-8746del XM_011535053.4:c.305-8746del XM_011535053.4:c.305-8746dup XM_011535053.4:c.305-8747_305-8746dup XM_011535053.4:c.305-8748_305-8746dup XM_011535053.4:c.305-8749_305-8746dup XM_011535053.4:c.305-8750_305-8746dup XM_011535053.4:c.305-8751_305-8746dup XM_011535053.4:c.305-8752_305-8746dup XM_011535053.4:c.305-8753_305-8746dup XM_011535053.4:c.305-8754_305-8746dup XM_011535053.4:c.305-8755_305-8746dup XM_011535053.4:c.305-8756_305-8746dup XM_011535053.4:c.305-8757_305-8746dup XM_011535053.4:c.305-8758_305-8746dup XM_011535053.4:c.305-8759_305-8746dup XM_011535053.4:c.305-8760_305-8746dup XM_011535053.4:c.305-8761_305-8746dup XM_011535053.4:c.305-8764_305-8746dup
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#.

57 SubSNP, 44 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80849729 Dec 04, 2013 (138)
2 HGSV ss80982862 Sep 08, 2015 (146)
3 SWEGEN ss3010962856 Nov 08, 2017 (151)
4 EVA_DECODE ss3695220994 Jul 13, 2019 (153)
5 EVA_DECODE ss3695220996 Jul 13, 2019 (153)
6 EVA_DECODE ss3695220997 Jul 13, 2019 (153)
7 EVA_DECODE ss3695220998 Jul 13, 2019 (153)
8 EVA ss3833528770 Apr 27, 2020 (154)
9 KOGIC ss3973494573 Apr 27, 2020 (154)
10 KOGIC ss3973494574 Apr 27, 2020 (154)
11 KOGIC ss3973494575 Apr 27, 2020 (154)
12 KOGIC ss3973494576 Apr 27, 2020 (154)
13 GNOMAD ss4265240395 Apr 26, 2021 (155)
14 GNOMAD ss4265240396 Apr 26, 2021 (155)
15 GNOMAD ss4265240397 Apr 26, 2021 (155)
16 GNOMAD ss4265240398 Apr 26, 2021 (155)
17 GNOMAD ss4265240409 Apr 26, 2021 (155)
18 GNOMAD ss4265240410 Apr 26, 2021 (155)
19 GNOMAD ss4265240411 Apr 26, 2021 (155)
20 GNOMAD ss4265240412 Apr 26, 2021 (155)
21 GNOMAD ss4265240413 Apr 26, 2021 (155)
22 GNOMAD ss4265240414 Apr 26, 2021 (155)
23 GNOMAD ss4265240415 Apr 26, 2021 (155)
24 GNOMAD ss4265240416 Apr 26, 2021 (155)
25 GNOMAD ss4265240417 Apr 26, 2021 (155)
26 GNOMAD ss4265240418 Apr 26, 2021 (155)
27 GNOMAD ss4265240419 Apr 26, 2021 (155)
28 GNOMAD ss4265240420 Apr 26, 2021 (155)
29 GNOMAD ss4265240421 Apr 26, 2021 (155)
30 GNOMAD ss4265240422 Apr 26, 2021 (155)
31 GNOMAD ss4265240423 Apr 26, 2021 (155)
32 GNOMAD ss4265240424 Apr 26, 2021 (155)
33 GNOMAD ss4265240425 Apr 26, 2021 (155)
34 GNOMAD ss4265240426 Apr 26, 2021 (155)
35 GNOMAD ss4265240427 Apr 26, 2021 (155)
36 GNOMAD ss4265240428 Apr 26, 2021 (155)
37 TOPMED ss4945059418 Apr 26, 2021 (155)
38 TOPMED ss4945059419 Apr 26, 2021 (155)
39 TOPMED ss4945059420 Apr 26, 2021 (155)
40 TOPMED ss4945059421 Apr 26, 2021 (155)
41 TOPMED ss4945059422 Apr 26, 2021 (155)
42 TOPMED ss4945059423 Apr 26, 2021 (155)
43 TOPMED ss4945059424 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5209837141 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5209837143 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5209837144 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5209837145 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5293612109 Oct 16, 2022 (156)
49 HUGCELL_USP ss5487987846 Oct 16, 2022 (156)
50 HUGCELL_USP ss5487987847 Oct 16, 2022 (156)
51 HUGCELL_USP ss5487987849 Oct 16, 2022 (156)
52 HUGCELL_USP ss5487987850 Oct 16, 2022 (156)
53 HUGCELL_USP ss5487987851 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5761666275 Oct 16, 2022 (156)
55 TOMMO_GENOMICS ss5761666277 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5761666279 Oct 16, 2022 (156)
57 TOMMO_GENOMICS ss5761666280 Oct 16, 2022 (156)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

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

Submission ignored due to conflicting rows:
Row 429711140 (NC_000013.11:45174634::T 1918/74126)
Row 429711141 (NC_000013.11:45174634::TT 15/74138)
Row 429711142 (NC_000013.11:45174634::TTT 122/73920)...

- Apr 26, 2021 (155)
82 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872574 (NC_000013.11:45174635:T: 251/1828)
Row 29872575 (NC_000013.11:45174636::T 214/1828)
Row 29872576 (NC_000013.11:45174636::TT 15/1828)...

- Apr 27, 2020 (154)
83 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872574 (NC_000013.11:45174635:T: 251/1828)
Row 29872575 (NC_000013.11:45174636::T 214/1828)
Row 29872576 (NC_000013.11:45174636::TT 15/1828)...

- Apr 27, 2020 (154)
84 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872574 (NC_000013.11:45174635:T: 251/1828)
Row 29872575 (NC_000013.11:45174636::T 214/1828)
Row 29872576 (NC_000013.11:45174636::TT 15/1828)...

- Apr 27, 2020 (154)
85 Korean Genome Project

Submission ignored due to conflicting rows:
Row 29872574 (NC_000013.11:45174635:T: 251/1828)
Row 29872575 (NC_000013.11:45174636::T 214/1828)
Row 29872576 (NC_000013.11:45174636::TT 15/1828)...

- Apr 27, 2020 (154)
86 8.3KJPN

Submission ignored due to conflicting rows:
Row 67806448 (NC_000013.10:45748769::T 1134/16638)
Row 67806450 (NC_000013.10:45748769::TTTTTTT 70/16638)
Row 67806451 (NC_000013.10:45748769:T: 57/16638)...

- Apr 26, 2021 (155)
87 8.3KJPN

Submission ignored due to conflicting rows:
Row 67806448 (NC_000013.10:45748769::T 1134/16638)
Row 67806450 (NC_000013.10:45748769::TTTTTTT 70/16638)
Row 67806451 (NC_000013.10:45748769:T: 57/16638)...

- Apr 26, 2021 (155)
88 8.3KJPN

Submission ignored due to conflicting rows:
Row 67806448 (NC_000013.10:45748769::T 1134/16638)
Row 67806450 (NC_000013.10:45748769::TTTTTTT 70/16638)
Row 67806451 (NC_000013.10:45748769:T: 57/16638)...

- Apr 26, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 67806448 (NC_000013.10:45748769::T 1134/16638)
Row 67806450 (NC_000013.10:45748769::TTTTTTT 70/16638)
Row 67806451 (NC_000013.10:45748769:T: 57/16638)...

- Apr 26, 2021 (155)
90 14KJPN

Submission ignored due to conflicting rows:
Row 95503379 (NC_000013.11:45174634::T 1821/27812)
Row 95503381 (NC_000013.11:45174634:T: 63/27812)
Row 95503383 (NC_000013.11:45174634::TTTTTTT 34/27812)...

- Oct 16, 2022 (156)
91 14KJPN

Submission ignored due to conflicting rows:
Row 95503379 (NC_000013.11:45174634::T 1821/27812)
Row 95503381 (NC_000013.11:45174634:T: 63/27812)
Row 95503383 (NC_000013.11:45174634::TTTTTTT 34/27812)...

- Oct 16, 2022 (156)
92 14KJPN

Submission ignored due to conflicting rows:
Row 95503379 (NC_000013.11:45174634::T 1821/27812)
Row 95503381 (NC_000013.11:45174634:T: 63/27812)
Row 95503383 (NC_000013.11:45174634::TTTTTTT 34/27812)...

- Oct 16, 2022 (156)
93 14KJPN

Submission ignored due to conflicting rows:
Row 95503379 (NC_000013.11:45174634::T 1821/27812)
Row 95503381 (NC_000013.11:45174634:T: 63/27812)
Row 95503383 (NC_000013.11:45174634::TTTTTTT 34/27812)...

- Oct 16, 2022 (156)
94 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
95 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
96 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
97 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
98 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
99 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
100 TopMed

Submission ignored due to conflicting rows:
Row 160605076 (NC_000013.11:45174634:TTTT: 5/264690)
Row 160605077 (NC_000013.11:45174634:TTTTTTT: 275/264690)
Row 160605078 (NC_000013.11:45174634:TTTTTTTTT: 11/264690)...

- Apr 26, 2021 (155)
101 ALFA NC_000013.11 - 45174635 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
ss4265240428, ss4945059424 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTT:

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
ss4265240427, ss4945059423 NC_000013.11:45174634:TTTTTTTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4265240426, ss4945059422 NC_000013.11:45174634:TTTTTTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4945059421 NC_000013.11:45174634:TTTTTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4265240425, ss4945059420 NC_000013.11:45174634:TTTTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss3695220994, ss4265240424, ss4945059419 NC_000013.11:45174634:TTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4945059418 NC_000013.11:45174634:TTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4265240423 NC_000013.11:45174634:TTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss80982862 NC_000013.9:44646788:TT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3973494576, ss4265240422, ss5487987849 NC_000013.11:45174634:TT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3010962856, ss5209837144 NC_000013.10:45748769:T: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4265240421, ss5487987846, ss5761666277 NC_000013.11:45174634:T: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3973494573 NC_000013.11:45174635:T: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3695220996 NC_000013.11:45174640:T: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3833528770, ss5209837141 NC_000013.10:45748769::T NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240395, ss5293612109, ss5487987847, ss5761666275 NC_000013.11:45174634::T NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3973494574 NC_000013.11:45174636::T NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3695220997 NC_000013.11:45174641::T NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss80849729 NT_024524.14:26728790::T NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss5209837145 NC_000013.10:45748769::TT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240396, ss5761666280 NC_000013.11:45174634::TT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3973494575 NC_000013.11:45174636::TT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240397 NC_000013.11:45174634::TTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss3695220998 NC_000013.11:45174641::TTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240398 NC_000013.11:45174634::TTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
430015664 NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240409 NC_000013.11:45174634::TTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240410 NC_000013.11:45174634::TTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5209837143 NC_000013.10:45748769::TTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5487987850, ss5761666279 NC_000013.11:45174634::TTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

ss4265240411 NC_000013.11:45174634::TTTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240412 NC_000013.11:45174634::TTTTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240413 NC_000013.11:45174634::TTTTTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240414 NC_000013.11:45174634::TTTTTTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240415 NC_000013.11:45174634::TTTTTTTTTTTT NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240416 NC_000013.11:45174634::TTTTTTTTTTT…

NC_000013.11:45174634::TTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240417, ss5487987851 NC_000013.11:45174634::TTTTTTTTTTT…

NC_000013.11:45174634::TTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240418 NC_000013.11:45174634::TTTTTTTTTTT…

NC_000013.11:45174634::TTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240419 NC_000013.11:45174634::TTTTTTTTTTT…

NC_000013.11:45174634::TTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4265240420 NC_000013.11:45174634::TTTTTTTTTTT…

NC_000013.11:45174634::TTTTTTTTTTTTTTTTTTT

NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2360171353 NC_000013.10:45748769:TT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

ss2360171354 NC_000013.10:45748769:TTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

ss2360171355 NC_000013.10:45748769:TTTTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

ss2360171356 NC_000013.10:45748769:TTTTTTTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

ss3191770161 NC_000013.11:45174634:TTTTT: NC_000013.11:45174634:TTTTTTTTTTTT…

NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

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 rs397950608

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