Name: rs72080135
Published: September 21, 2022
License: Open Access

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.

rs72080135

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:18843718-18843752 (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(GT)₁₀ / del(GT)₉ / del(GT)₈ / …
del(GT)₁₀ / del(GT)₉ / del(GT)₈ / del(GT)₇ / del(GT)₆ / del(GT)₅ / del(GT)₄ / del(GT)₃ / delGTGT / delGT / dupGT / dupGTGT / dup(GT)₃ / dup(GT)₄ / dup(GT)₅ / dup(GT)₆ / dup(GT)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupGT=0.07922 (825/10414, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: UPF1 : 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	10414	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.81650	TGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.02593, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.07413, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.07922, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00250, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00163, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00010, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00000	0.855675	0.012144	0.132181	16
European	Sub	9264	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.7951	TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0291, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0832, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0878, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0028, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0018, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0001, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	0.8363	0.013754	0.149946	11
African	Sub	428	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.979	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.021, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	0.957944	0.0	0.042056	0
African Others	Sub	14	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
African American	Sub	414	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.978	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.022, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	0.956522	0.0	0.043478	0
Asian	Sub	96	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	76	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	54	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	346	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	48	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	0.0	0.0	N/A
Other	Sub	178	TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.978	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.006, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.017, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	0.977273	0.011364	0.011364	21

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	10414	(TG)₁₇T=0.81650	del(GT)₁₀=0.00000, del(GT)₉=0.00000, del(GT)₈=0.00000, del(GT)₇=0.00000, del(GT)₆=0.00000, del(GT)₅=0.00000, del(GT)₄=0.00000, del(GT)₃=0.00000, delGTGT=0.02593, delGT=0.07413, dupGT=0.07922, dupGTGT=0.00163, dup(GT)₃=0.00250, dup(GT)₄=0.00010, dup(GT)₅=0.00000, dup(GT)₆=0.00000, dup(GT)₇=0.00000
Allele Frequency Aggregator	European	Sub	9264	(TG)₁₇T=0.7951	del(GT)₁₀=0.0000, del(GT)₉=0.0000, del(GT)₈=0.0000, del(GT)₇=0.0000, del(GT)₆=0.0000, del(GT)₅=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0291, delGT=0.0832, dupGT=0.0878, dupGTGT=0.0018, dup(GT)₃=0.0028, dup(GT)₄=0.0001, dup(GT)₅=0.0000, dup(GT)₆=0.0000, dup(GT)₇=0.0000
Allele Frequency Aggregator	African	Sub	428	(TG)₁₇T=0.979	del(GT)₁₀=0.000, del(GT)₉=0.000, del(GT)₈=0.000, del(GT)₇=0.000, del(GT)₆=0.000, del(GT)₅=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.021, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	346	(TG)₁₇T=1.000	del(GT)₁₀=0.000, del(GT)₉=0.000, del(GT)₈=0.000, del(GT)₇=0.000, del(GT)₆=0.000, del(GT)₅=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000
Allele Frequency Aggregator	Other	Sub	178	(TG)₁₇T=0.978	del(GT)₁₀=0.000, del(GT)₉=0.000, del(GT)₈=0.000, del(GT)₇=0.000, del(GT)₆=0.000, del(GT)₅=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.006, dupGT=0.017, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000
Allele Frequency Aggregator	Asian	Sub	96	(TG)₁₇T=1.00	del(GT)₁₀=0.00, del(GT)₉=0.00, del(GT)₈=0.00, del(GT)₇=0.00, del(GT)₆=0.00, del(GT)₅=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	54	(TG)₁₇T=1.00	del(GT)₁₀=0.00, del(GT)₉=0.00, del(GT)₈=0.00, del(GT)₇=0.00, del(GT)₆=0.00, del(GT)₅=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	48	(TG)₁₇T=1.00	del(GT)₁₀=0.00, del(GT)₉=0.00, del(GT)₈=0.00, del(GT)₇=0.00, del(GT)₆=0.00, del(GT)₅=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00

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 19	NC_000019.10:g.18843719GT[7]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[8]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[9]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[10]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[11]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[12]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[13]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[14]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[15]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[16]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[18]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[19]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[20]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[21]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[22]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[23]
GRCh38.p14 chr 19	NC_000019.10:g.18843719GT[24]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[7]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[8]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[9]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[10]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[11]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[12]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[13]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[14]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[15]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[16]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[18]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[19]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[20]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[21]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[22]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[23]
GRCh37.p13 chr 19	NC_000019.9:g.18954528GT[24]

Gene: UPF1, UPF1 RNA helicase and ATPase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UPF1 transcript variant 1	NM_001297549.2:c.232-2262… NM_001297549.2:c.232-2262TG[7]	N/A	Intron Variant
UPF1 transcript variant 2	NM_002911.4:c.232-2262TG[… NM_002911.4:c.232-2262TG[7]	N/A	Intron Variant
UPF1 transcript variant X1	XM_017027105.3:c.232-2262… XM_017027105.3:c.232-2262TG[7]	N/A	Intron Variant
UPF1 transcript variant X2	XM_017027106.3:c.232-2262… XM_017027106.3:c.232-2262TG[7]	N/A	Intron Variant
UPF1 transcript variant X3	XM_047439191.1:c.103-2262… XM_047439191.1:c.103-2262TG[7]	N/A	Intron Variant

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

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	(TG)₁₇T=	del(GT)₁₀	del(GT)₉	del(GT)₈	del(GT)₇	del(GT)₆	del(GT)₅	del(GT)₄	del(GT)₃	delGTGT	delGT	dupGT	dupGTGT	dup(GT)₃	dup(GT)₄	dup(GT)₅	dup(GT)₆	dup(GT)₇
GRCh38.p14 chr 19	NC_000019.10:g.18843718_18843752=	NC_000019.10:g.18843719GT[7]	NC_000019.10:g.18843719GT[8]	NC_000019.10:g.18843719GT[9]	NC_000019.10:g.18843719GT[10]	NC_000019.10:g.18843719GT[11]	NC_000019.10:g.18843719GT[12]	NC_000019.10:g.18843719GT[13]	NC_000019.10:g.18843719GT[14]	NC_000019.10:g.18843719GT[15]	NC_000019.10:g.18843719GT[16]	NC_000019.10:g.18843719GT[18]	NC_000019.10:g.18843719GT[19]	NC_000019.10:g.18843719GT[20]	NC_000019.10:g.18843719GT[21]	NC_000019.10:g.18843719GT[22]	NC_000019.10:g.18843719GT[23]	NC_000019.10:g.18843719GT[24]
GRCh37.p13 chr 19	NC_000019.9:g.18954527_18954561=	NC_000019.9:g.18954528GT[7]	NC_000019.9:g.18954528GT[8]	NC_000019.9:g.18954528GT[9]	NC_000019.9:g.18954528GT[10]	NC_000019.9:g.18954528GT[11]	NC_000019.9:g.18954528GT[12]	NC_000019.9:g.18954528GT[13]	NC_000019.9:g.18954528GT[14]	NC_000019.9:g.18954528GT[15]	NC_000019.9:g.18954528GT[16]	NC_000019.9:g.18954528GT[18]	NC_000019.9:g.18954528GT[19]	NC_000019.9:g.18954528GT[20]	NC_000019.9:g.18954528GT[21]	NC_000019.9:g.18954528GT[22]	NC_000019.9:g.18954528GT[23]	NC_000019.9:g.18954528GT[24]
UPF1 transcript variant 1	NM_001297549.2:c.232-2262=	NM_001297549.2:c.232-2262TG[7]	NM_001297549.2:c.232-2262TG[8]	NM_001297549.2:c.232-2262TG[9]	NM_001297549.2:c.232-2262TG[10]	NM_001297549.2:c.232-2262TG[11]	NM_001297549.2:c.232-2262TG[12]	NM_001297549.2:c.232-2262TG[13]	NM_001297549.2:c.232-2262TG[14]	NM_001297549.2:c.232-2262TG[15]	NM_001297549.2:c.232-2262TG[16]	NM_001297549.2:c.232-2262TG[18]	NM_001297549.2:c.232-2262TG[19]	NM_001297549.2:c.232-2262TG[20]	NM_001297549.2:c.232-2262TG[21]	NM_001297549.2:c.232-2262TG[22]	NM_001297549.2:c.232-2262TG[23]	NM_001297549.2:c.232-2262TG[24]
UPF1 transcript variant 2	NM_002911.3:c.232-2262=	NM_002911.3:c.232-2262TG[7]	NM_002911.3:c.232-2262TG[8]	NM_002911.3:c.232-2262TG[9]	NM_002911.3:c.232-2262TG[10]	NM_002911.3:c.232-2262TG[11]	NM_002911.3:c.232-2262TG[12]	NM_002911.3:c.232-2262TG[13]	NM_002911.3:c.232-2262TG[14]	NM_002911.3:c.232-2262TG[15]	NM_002911.3:c.232-2262TG[16]	NM_002911.3:c.232-2262TG[18]	NM_002911.3:c.232-2262TG[19]	NM_002911.3:c.232-2262TG[20]	NM_002911.3:c.232-2262TG[21]	NM_002911.3:c.232-2262TG[22]	NM_002911.3:c.232-2262TG[23]	NM_002911.3:c.232-2262TG[24]
UPF1 transcript variant 2	NM_002911.4:c.232-2262=	NM_002911.4:c.232-2262TG[7]	NM_002911.4:c.232-2262TG[8]	NM_002911.4:c.232-2262TG[9]	NM_002911.4:c.232-2262TG[10]	NM_002911.4:c.232-2262TG[11]	NM_002911.4:c.232-2262TG[12]	NM_002911.4:c.232-2262TG[13]	NM_002911.4:c.232-2262TG[14]	NM_002911.4:c.232-2262TG[15]	NM_002911.4:c.232-2262TG[16]	NM_002911.4:c.232-2262TG[18]	NM_002911.4:c.232-2262TG[19]	NM_002911.4:c.232-2262TG[20]	NM_002911.4:c.232-2262TG[21]	NM_002911.4:c.232-2262TG[22]	NM_002911.4:c.232-2262TG[23]	NM_002911.4:c.232-2262TG[24]
UPF1 transcript variant X1	XM_005260015.1:c.232-2262=	XM_005260015.1:c.232-2262TG[7]	XM_005260015.1:c.232-2262TG[8]	XM_005260015.1:c.232-2262TG[9]	XM_005260015.1:c.232-2262TG[10]	XM_005260015.1:c.232-2262TG[11]	XM_005260015.1:c.232-2262TG[12]	XM_005260015.1:c.232-2262TG[13]	XM_005260015.1:c.232-2262TG[14]	XM_005260015.1:c.232-2262TG[15]	XM_005260015.1:c.232-2262TG[16]	XM_005260015.1:c.232-2262TG[18]	XM_005260015.1:c.232-2262TG[19]	XM_005260015.1:c.232-2262TG[20]	XM_005260015.1:c.232-2262TG[21]	XM_005260015.1:c.232-2262TG[22]	XM_005260015.1:c.232-2262TG[23]	XM_005260015.1:c.232-2262TG[24]
UPF1 transcript variant X1	XM_017027105.3:c.232-2262=	XM_017027105.3:c.232-2262TG[7]	XM_017027105.3:c.232-2262TG[8]	XM_017027105.3:c.232-2262TG[9]	XM_017027105.3:c.232-2262TG[10]	XM_017027105.3:c.232-2262TG[11]	XM_017027105.3:c.232-2262TG[12]	XM_017027105.3:c.232-2262TG[13]	XM_017027105.3:c.232-2262TG[14]	XM_017027105.3:c.232-2262TG[15]	XM_017027105.3:c.232-2262TG[16]	XM_017027105.3:c.232-2262TG[18]	XM_017027105.3:c.232-2262TG[19]	XM_017027105.3:c.232-2262TG[20]	XM_017027105.3:c.232-2262TG[21]	XM_017027105.3:c.232-2262TG[22]	XM_017027105.3:c.232-2262TG[23]	XM_017027105.3:c.232-2262TG[24]
UPF1 transcript variant X2	XM_017027106.3:c.232-2262=	XM_017027106.3:c.232-2262TG[7]	XM_017027106.3:c.232-2262TG[8]	XM_017027106.3:c.232-2262TG[9]	XM_017027106.3:c.232-2262TG[10]	XM_017027106.3:c.232-2262TG[11]	XM_017027106.3:c.232-2262TG[12]	XM_017027106.3:c.232-2262TG[13]	XM_017027106.3:c.232-2262TG[14]	XM_017027106.3:c.232-2262TG[15]	XM_017027106.3:c.232-2262TG[16]	XM_017027106.3:c.232-2262TG[18]	XM_017027106.3:c.232-2262TG[19]	XM_017027106.3:c.232-2262TG[20]	XM_017027106.3:c.232-2262TG[21]	XM_017027106.3:c.232-2262TG[22]	XM_017027106.3:c.232-2262TG[23]	XM_017027106.3:c.232-2262TG[24]
UPF1 transcript variant X3	XM_047439191.1:c.103-2262=	XM_047439191.1:c.103-2262TG[7]	XM_047439191.1:c.103-2262TG[8]	XM_047439191.1:c.103-2262TG[9]	XM_047439191.1:c.103-2262TG[10]	XM_047439191.1:c.103-2262TG[11]	XM_047439191.1:c.103-2262TG[12]	XM_047439191.1:c.103-2262TG[13]	XM_047439191.1:c.103-2262TG[14]	XM_047439191.1:c.103-2262TG[15]	XM_047439191.1:c.103-2262TG[16]	XM_047439191.1:c.103-2262TG[18]	XM_047439191.1:c.103-2262TG[19]	XM_047439191.1:c.103-2262TG[20]	XM_047439191.1:c.103-2262TG[21]	XM_047439191.1:c.103-2262TG[22]	XM_047439191.1:c.103-2262TG[23]	XM_047439191.1:c.103-2262TG[24]

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#.

77 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77864990	Aug 21, 2014 (142)
2	HGSV	ss80209052	Aug 21, 2014 (142)
3	HGSV	ss82442736	Oct 12, 2018 (152)
4	HUMANGENOME_JCVI	ss95724006	Oct 12, 2018 (152)
5	1000GENOMES	ss328022380	May 09, 2011 (137)
6	1000GENOMES	ss328269687	May 09, 2011 (137)
7	LUNTER	ss552611522	Apr 25, 2013 (138)
8	LUNTER	ss552994967	Apr 25, 2013 (138)
9	LUNTER	ss553657902	Apr 25, 2013 (138)
10	SSMP	ss664430084	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1709148073	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1709148111	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710784617	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710784618	Apr 01, 2015 (144)
15	SWEGEN	ss3017213058	Nov 08, 2017 (151)
16	MCHAISSO	ss3065705056	Nov 08, 2017 (151)
17	URBANLAB	ss3650881738	Oct 12, 2018 (152)
18	EVA_DECODE	ss3702481815	Jul 13, 2019 (153)
19	EVA_DECODE	ss3702481816	Jul 13, 2019 (153)
20	EVA_DECODE	ss3702481817	Jul 13, 2019 (153)
21	EVA_DECODE	ss3702481818	Jul 13, 2019 (153)
22	EVA_DECODE	ss3702481819	Jul 13, 2019 (153)
23	EVA_DECODE	ss3702481820	Jul 13, 2019 (153)
24	ACPOP	ss3742913012	Jul 13, 2019 (153)
25	ACPOP	ss3742913013	Jul 13, 2019 (153)
26	ACPOP	ss3742913014	Jul 13, 2019 (153)
27	ACPOP	ss3742913015	Jul 13, 2019 (153)
28	ACPOP	ss3742913016	Jul 13, 2019 (153)
29	PACBIO	ss3788488136	Jul 13, 2019 (153)
30	PACBIO	ss3793404776	Jul 13, 2019 (153)
31	PACBIO	ss3798291546	Jul 13, 2019 (153)
32	EVA	ss3835387393	Apr 27, 2020 (154)
33	EVA	ss3841313486	Apr 27, 2020 (154)
34	EVA	ss3846818353	Apr 27, 2020 (154)
35	GNOMAD	ss4328783714	Apr 27, 2021 (155)
36	GNOMAD	ss4328783715	Apr 27, 2021 (155)
37	GNOMAD	ss4328783716	Apr 27, 2021 (155)
38	GNOMAD	ss4328783717	Apr 27, 2021 (155)
39	GNOMAD	ss4328783718	Apr 27, 2021 (155)
40	GNOMAD	ss4328783719	Apr 27, 2021 (155)
41	GNOMAD	ss4328783720	Apr 27, 2021 (155)
42	GNOMAD	ss4328783721	Apr 27, 2021 (155)
43	GNOMAD	ss4328783722	Apr 27, 2021 (155)
44	GNOMAD	ss4328783723	Apr 27, 2021 (155)
45	GNOMAD	ss4328783724	Apr 27, 2021 (155)
46	GNOMAD	ss4328783725	Apr 27, 2021 (155)
47	GNOMAD	ss4328783726	Apr 27, 2021 (155)
48	GNOMAD	ss4328783727	Apr 27, 2021 (155)
49	GNOMAD	ss4328783728	Apr 27, 2021 (155)
50	GNOMAD	ss4328783729	Apr 27, 2021 (155)
51	GNOMAD	ss4328783730	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5227071707	Apr 27, 2021 (155)
53	TOMMO_GENOMICS	ss5227071708	Apr 27, 2021 (155)
54	TOMMO_GENOMICS	ss5227071709	Apr 27, 2021 (155)
55	TOMMO_GENOMICS	ss5227071710	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5227071711	Apr 27, 2021 (155)
57	TOMMO_GENOMICS	ss5227071712	Apr 27, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5306737453	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5306737454	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5306737455	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5306737456	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5499332818	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5499332819	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5499332820	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5499332821	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5499332822	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5499332823	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5785468214	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5785468215	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5785468216	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5785468217	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5785468218	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5785468219	Oct 16, 2022 (156)
74	EVA	ss5840348884	Oct 16, 2022 (156)
75	EVA	ss5840348885	Oct 16, 2022 (156)
76	EVA	ss5840348886	Oct 16, 2022 (156)
77	EVA	ss5852230753	Oct 16, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42096028 (NC_000019.9:18954526::TG 406/3854) Row 42096029 (NC_000019.9:18954526:TG: 1349/3854)	-	Oct 12, 2018 (152)
79	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42096028 (NC_000019.9:18954526::TG 406/3854) Row 42096029 (NC_000019.9:18954526:TG: 1349/3854)	-	Oct 12, 2018 (152)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 535968799 (NC_000019.10:18843717::TG 13051/132458) Row 535968800 (NC_000019.10:18843717::TGTG 2247/132562) Row 535968801 (NC_000019.10:18843717::TGTGTG 964/132586)...	-	Apr 27, 2021 (155)
97	Northern Sweden Submission ignored due to conflicting rows: Row 16197877 (NC_000019.9:18954526:TGTG: 20/600) Row 16197878 (NC_000019.9:18954526:TG: 124/600) Row 16197879 (NC_000019.9:18954526::TG 102/600)...	-	Jul 13, 2019 (153)
98	Northern Sweden Submission ignored due to conflicting rows: Row 16197877 (NC_000019.9:18954526:TGTG: 20/600) Row 16197878 (NC_000019.9:18954526:TG: 124/600) Row 16197879 (NC_000019.9:18954526::TG 102/600)...	-	Jul 13, 2019 (153)
99	Northern Sweden Submission ignored due to conflicting rows: Row 16197877 (NC_000019.9:18954526:TGTG: 20/600) Row 16197878 (NC_000019.9:18954526:TG: 124/600) Row 16197879 (NC_000019.9:18954526::TG 102/600)...	-	Jul 13, 2019 (153)
100	Northern Sweden Submission ignored due to conflicting rows: Row 16197877 (NC_000019.9:18954526:TGTG: 20/600) Row 16197878 (NC_000019.9:18954526:TG: 124/600) Row 16197879 (NC_000019.9:18954526::TG 102/600)...	-	Jul 13, 2019 (153)
101	Northern Sweden Submission ignored due to conflicting rows: Row 16197877 (NC_000019.9:18954526:TGTG: 20/600) Row 16197878 (NC_000019.9:18954526:TG: 124/600) Row 16197879 (NC_000019.9:18954526::TG 102/600)...	-	Jul 13, 2019 (153)
102	8.3KJPN Submission ignored due to conflicting rows: Row 85041014 (NC_000019.9:18954526:TGTGTGTGTGTGTG: 415/16730) Row 85041015 (NC_000019.9:18954526:TG: 1685/16730) Row 85041016 (NC_000019.9:18954526::TG 672/16730)...	-	Apr 27, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 85041014 (NC_000019.9:18954526:TGTGTGTGTGTGTG: 415/16730) Row 85041015 (NC_000019.9:18954526:TG: 1685/16730) Row 85041016 (NC_000019.9:18954526::TG 672/16730)...	-	Apr 27, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 85041014 (NC_000019.9:18954526:TGTGTGTGTGTGTG: 415/16730) Row 85041015 (NC_000019.9:18954526:TG: 1685/16730) Row 85041016 (NC_000019.9:18954526::TG 672/16730)...	-	Apr 27, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 85041014 (NC_000019.9:18954526:TGTGTGTGTGTGTG: 415/16730) Row 85041015 (NC_000019.9:18954526:TG: 1685/16730) Row 85041016 (NC_000019.9:18954526::TG 672/16730)...	-	Apr 27, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 85041014 (NC_000019.9:18954526:TGTGTGTGTGTGTG: 415/16730) Row 85041015 (NC_000019.9:18954526:TG: 1685/16730) Row 85041016 (NC_000019.9:18954526::TG 672/16730)...	-	Apr 27, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 85041014 (NC_000019.9:18954526:TGTGTGTGTGTGTG: 415/16730) Row 85041015 (NC_000019.9:18954526:TG: 1685/16730) Row 85041016 (NC_000019.9:18954526::TG 672/16730)...	-	Apr 27, 2021 (155)
108	14KJPN Submission ignored due to conflicting rows: Row 119305318 (NC_000019.10:18843717:TGTGTGTGTGTGTG: 700/28244) Row 119305319 (NC_000019.10:18843717:TG: 2869/28244) Row 119305320 (NC_000019.10:18843717::TG 1085/28244)...	-	Oct 16, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 119305318 (NC_000019.10:18843717:TGTGTGTGTGTGTG: 700/28244) Row 119305319 (NC_000019.10:18843717:TG: 2869/28244) Row 119305320 (NC_000019.10:18843717::TG 1085/28244)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 119305318 (NC_000019.10:18843717:TGTGTGTGTGTGTG: 700/28244) Row 119305319 (NC_000019.10:18843717:TG: 2869/28244) Row 119305320 (NC_000019.10:18843717::TG 1085/28244)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 119305318 (NC_000019.10:18843717:TGTGTGTGTGTGTG: 700/28244) Row 119305319 (NC_000019.10:18843717:TG: 2869/28244) Row 119305320 (NC_000019.10:18843717::TG 1085/28244)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 119305318 (NC_000019.10:18843717:TGTGTGTGTGTGTG: 700/28244) Row 119305319 (NC_000019.10:18843717:TG: 2869/28244) Row 119305320 (NC_000019.10:18843717::TG 1085/28244)...	-	Oct 16, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 119305318 (NC_000019.10:18843717:TGTGTGTGTGTGTG: 700/28244) Row 119305319 (NC_000019.10:18843717:TG: 2869/28244) Row 119305320 (NC_000019.10:18843717::TG 1085/28244)...	-	Oct 16, 2022 (156)
114	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42096028 (NC_000019.9:18954526::TG 381/3708) Row 42096029 (NC_000019.9:18954526:TG: 1259/3708)	-	Oct 12, 2018 (152)
115	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42096028 (NC_000019.9:18954526::TG 381/3708) Row 42096029 (NC_000019.9:18954526:TG: 1259/3708)	-	Oct 12, 2018 (152)
116	ALFA	NC_000019.10 - 18843718	Apr 27, 2021 (155)

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)
rs145260743	May 04, 2012 (137)
rs373267279	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4328783730	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
ss4328783729	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT	(self)
ss4328783728	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss5227071707	NC_000019.9:18954526:TGTGTGTGTGTGT… NC_000019.9:18954526:TGTGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783727, ss5785468214	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss5227071712	NC_000019.9:18954526:TGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783726, ss5785468219	NC_000019.10:18843717:TGTGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783725	NC_000019.10:18843717:TGTGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783724	NC_000019.10:18843717:TGTGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3702481815, ss4328783723	NC_000019.10:18843717:TGTGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss77864990	NC_000019.8:18815557:GTGT:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3017213058, ss3742913012, ss5227071710, ss5840348886	NC_000019.9:18954526:TGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3065705056, ss4328783722, ss5306737456, ss5499332819, ss5785468217	NC_000019.10:18843717:TGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3702481816	NC_000019.10:18843719:TGTG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss328022380, ss328269687, ss552611522, ss552994967, ss553657902	NC_000019.8:18815526:TG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss80209052	NC_000019.8:18815559:GT:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss664430084, ss1709148073, ss1709148111, ss3742913013, ss3788488136, ss3793404776, ss3798291546, ss3835387393, ss3841313486, ss5227071708, ss5840348884	NC_000019.9:18954526:TG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3846818353, ss4328783721, ss5306737453, ss5499332818, ss5785468215	NC_000019.10:18843717:TG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3702481817	NC_000019.10:18843721:TG:	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3742913014, ss5227071709, ss5840348885	NC_000019.9:18954526::TG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss1710784617, ss1710784618	NC_000019.9:18954528::TG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783714, ss5306737455, ss5499332820, ss5785468216, ss5852230753	NC_000019.10:18843717::TG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3702481818	NC_000019.10:18843723::TG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3650881738	NC_000019.10:18843732::GT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss82442736, ss95724006	NT_011295.11:10217363::GT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3742913015, ss5227071711	NC_000019.9:18954526::TGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783715, ss5499332821, ss5785468218	NC_000019.10:18843717::TGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3702481819	NC_000019.10:18843723::TGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3742913016	NC_000019.9:18954526::TGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783716, ss5499332822	NC_000019.10:18843717::TGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3702481820	NC_000019.10:18843723::TGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783717, ss5306737454, ss5499332823	NC_000019.10:18843717::TGTGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783718	NC_000019.10:18843717::TGTGTGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783719	NC_000019.10:18843717::TGTGTGTGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4328783720	NC_000019.10:18843717::TGTGTGTGTGT… NC_000019.10:18843717::TGTGTGTGTGTGTG	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
5501296476	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000019.10:18843717:TGTGTGTGTGTG… NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)

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

No publications for rs72080135

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
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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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs72080135