Name: rs72019256
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.

rs72019256

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:52498685-52498701 (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)₇ / del(T)₆ / del(T)₄ / delT…
del(T)₇ / del(T)₆ / 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)₁₇ / ins(T)₁₈ / ins(T)₁₉ / ins(T)₂₀
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.0915 (663/7242, ALFA)
(T)₁₇=0.4740 (2374/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF578 : 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	7242	TTTTTTTTTTTTTTTTT=0.7998	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0915, TTTTTTTTTTTTTTTTTT=0.0028, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0233, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0278, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0532, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0017, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.865607	0.02946	0.104932	32
European	Sub	6878	TTTTTTTTTTTTTTTTT=0.7898	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0960, TTTTTTTTTTTTTTTTTT=0.0029, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0244, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0292, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0560, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0017, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.857746	0.030986	0.111268	32
African	Sub	148	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	2	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	146	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	30	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	10	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	20	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	58	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	18	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	90	TTTTTTTTTTTTTTTTT=0.96	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.03, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.01, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.954545	0.022727	0.022727	11

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7242	(T)₁₇=0.7998	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0915, dupT=0.0028, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0233, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0278, dup(T)₁₁=0.0532, dup(T)₁₂=0.0017, dup(T)₁₃=0.0000, dup(T)₁₄=0.0000, dup(T)₁₅=0.0000
Allele Frequency Aggregator	European	Sub	6878	(T)₁₇=0.7898	del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0960, dupT=0.0029, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0244, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0292, dup(T)₁₁=0.0560, dup(T)₁₂=0.0017, dup(T)₁₃=0.0000, dup(T)₁₄=0.0000, dup(T)₁₅=0.0000
Allele Frequency Aggregator	African	Sub	148	(T)₁₇=1.000	del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000, dup(T)₁₂=0.000, dup(T)₁₃=0.000, dup(T)₁₄=0.000, dup(T)₁₅=0.000
Allele Frequency Aggregator	Other	Sub	90	(T)₁₇=0.96	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.03, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.01, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00, dup(T)₁₄=0.00, dup(T)₁₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	58	(T)₁₇=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00, dup(T)₁₄=0.00, dup(T)₁₅=0.00
Allele Frequency Aggregator	Asian	Sub	30	(T)₁₇=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00, dup(T)₁₄=0.00, dup(T)₁₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	(T)₁₇=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00, dup(T)₁₄=0.00, dup(T)₁₅=0.00
Allele Frequency Aggregator	South Asian	Sub	18	(T)₁₇=1.00	del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00, dup(T)₁₄=0.00, dup(T)₁₅=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.4740	delT=0.5260
1000Genomes	African	Sub	1322	(T)₁₇=0.2731	delT=0.7269
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.5099	delT=0.4901
1000Genomes	Europe	Sub	1006	(T)₁₇=0.6024	delT=0.3976
1000Genomes	South Asian	Sub	978	(T)₁₇=0.574	delT=0.426
1000Genomes	American	Sub	694	(T)₁₇=0.478	delT=0.522

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.52498695_52498701del
GRCh38.p14 chr 19	NC_000019.10:g.52498696_52498701del
GRCh38.p14 chr 19	NC_000019.10:g.52498698_52498701del
GRCh38.p14 chr 19	NC_000019.10:g.52498699_52498701del
GRCh38.p14 chr 19	NC_000019.10:g.52498700_52498701del
GRCh38.p14 chr 19	NC_000019.10:g.52498701del
GRCh38.p14 chr 19	NC_000019.10:g.52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498700_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498699_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498698_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498697_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498696_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498695_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498694_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498693_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498692_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498691_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498690_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498689_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498688_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498687_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498686_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498685_52498701dup
GRCh38.p14 chr 19	NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 19	NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53001948_53001954del
GRCh37.p13 chr 19	NC_000019.9:g.53001949_53001954del
GRCh37.p13 chr 19	NC_000019.9:g.53001951_53001954del
GRCh37.p13 chr 19	NC_000019.9:g.53001952_53001954del
GRCh37.p13 chr 19	NC_000019.9:g.53001953_53001954del
GRCh37.p13 chr 19	NC_000019.9:g.53001954del
GRCh37.p13 chr 19	NC_000019.9:g.53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001953_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001952_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001951_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001950_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001949_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001948_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001947_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001946_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001945_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001944_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001943_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001942_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001941_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001940_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001939_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001938_53001954dup
GRCh37.p13 chr 19	NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTTTT

Gene: ZNF578, zinc finger protein 578 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF578 transcript variant 1	NM_001099694.2:c.-19-3132… NM_001099694.2:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant 2	NM_001366182.2:c.-19-3132… NM_001366182.2:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant X1	XM_047438189.1:c.-19-3132… XM_047438189.1:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant X2	XM_047438190.1:c.-19-3132… XM_047438190.1:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant X3	XM_047438191.1:c.-19-3132… XM_047438191.1:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant X4	XM_047438192.1:c.-19-3132… XM_047438192.1:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant X5	XM_047438193.1:c.-19-3132… XM_047438193.1:c.-19-3132_-19-3126del	N/A	Intron Variant
ZNF578 transcript variant X6	XM_047438194.1:c.-99-3132… XM_047438194.1:c.-99-3132_-99-3126del	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	(T)₁₇=	del(T)₇	del(T)₆	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)₁₇	ins(T)₁₈	ins(T)₁₉	ins(T)₂₀
GRCh38.p14 chr 19	NC_000019.10:g.52498685_52498701=	NC_000019.10:g.52498695_52498701del	NC_000019.10:g.52498696_52498701del	NC_000019.10:g.52498698_52498701del	NC_000019.10:g.52498699_52498701del	NC_000019.10:g.52498700_52498701del	NC_000019.10:g.52498701del	NC_000019.10:g.52498701dup	NC_000019.10:g.52498700_52498701dup	NC_000019.10:g.52498699_52498701dup	NC_000019.10:g.52498698_52498701dup	NC_000019.10:g.52498697_52498701dup	NC_000019.10:g.52498696_52498701dup	NC_000019.10:g.52498695_52498701dup	NC_000019.10:g.52498694_52498701dup	NC_000019.10:g.52498693_52498701dup	NC_000019.10:g.52498692_52498701dup	NC_000019.10:g.52498691_52498701dup	NC_000019.10:g.52498690_52498701dup	NC_000019.10:g.52498689_52498701dup	NC_000019.10:g.52498688_52498701dup	NC_000019.10:g.52498687_52498701dup	NC_000019.10:g.52498686_52498701dup	NC_000019.10:g.52498685_52498701dup	NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTTT	NC_000019.10:g.52498701_52498702insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 19	NC_000019.9:g.53001938_53001954=	NC_000019.9:g.53001948_53001954del	NC_000019.9:g.53001949_53001954del	NC_000019.9:g.53001951_53001954del	NC_000019.9:g.53001952_53001954del	NC_000019.9:g.53001953_53001954del	NC_000019.9:g.53001954del	NC_000019.9:g.53001954dup	NC_000019.9:g.53001953_53001954dup	NC_000019.9:g.53001952_53001954dup	NC_000019.9:g.53001951_53001954dup	NC_000019.9:g.53001950_53001954dup	NC_000019.9:g.53001949_53001954dup	NC_000019.9:g.53001948_53001954dup	NC_000019.9:g.53001947_53001954dup	NC_000019.9:g.53001946_53001954dup	NC_000019.9:g.53001945_53001954dup	NC_000019.9:g.53001944_53001954dup	NC_000019.9:g.53001943_53001954dup	NC_000019.9:g.53001942_53001954dup	NC_000019.9:g.53001941_53001954dup	NC_000019.9:g.53001940_53001954dup	NC_000019.9:g.53001939_53001954dup	NC_000019.9:g.53001938_53001954dup	NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTTT	NC_000019.9:g.53001954_53001955insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant 1	NM_001099694.1:c.-19-3142=	NM_001099694.1:c.-19-3132_-19-3126del	NM_001099694.1:c.-19-3131_-19-3126del	NM_001099694.1:c.-19-3129_-19-3126del	NM_001099694.1:c.-19-3128_-19-3126del	NM_001099694.1:c.-19-3127_-19-3126del	NM_001099694.1:c.-19-3126del	NM_001099694.1:c.-19-3126dup	NM_001099694.1:c.-19-3127_-19-3126dup	NM_001099694.1:c.-19-3128_-19-3126dup	NM_001099694.1:c.-19-3129_-19-3126dup	NM_001099694.1:c.-19-3130_-19-3126dup	NM_001099694.1:c.-19-3131_-19-3126dup	NM_001099694.1:c.-19-3132_-19-3126dup	NM_001099694.1:c.-19-3133_-19-3126dup	NM_001099694.1:c.-19-3134_-19-3126dup	NM_001099694.1:c.-19-3135_-19-3126dup	NM_001099694.1:c.-19-3136_-19-3126dup	NM_001099694.1:c.-19-3137_-19-3126dup	NM_001099694.1:c.-19-3138_-19-3126dup	NM_001099694.1:c.-19-3139_-19-3126dup	NM_001099694.1:c.-19-3140_-19-3126dup	NM_001099694.1:c.-19-3141_-19-3126dup	NM_001099694.1:c.-19-3142_-19-3126dup	NM_001099694.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	NM_001099694.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	NM_001099694.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant 1	NM_001099694.2:c.-19-3142=	NM_001099694.2:c.-19-3132_-19-3126del	NM_001099694.2:c.-19-3131_-19-3126del	NM_001099694.2:c.-19-3129_-19-3126del	NM_001099694.2:c.-19-3128_-19-3126del	NM_001099694.2:c.-19-3127_-19-3126del	NM_001099694.2:c.-19-3126del	NM_001099694.2:c.-19-3126dup	NM_001099694.2:c.-19-3127_-19-3126dup	NM_001099694.2:c.-19-3128_-19-3126dup	NM_001099694.2:c.-19-3129_-19-3126dup	NM_001099694.2:c.-19-3130_-19-3126dup	NM_001099694.2:c.-19-3131_-19-3126dup	NM_001099694.2:c.-19-3132_-19-3126dup	NM_001099694.2:c.-19-3133_-19-3126dup	NM_001099694.2:c.-19-3134_-19-3126dup	NM_001099694.2:c.-19-3135_-19-3126dup	NM_001099694.2:c.-19-3136_-19-3126dup	NM_001099694.2:c.-19-3137_-19-3126dup	NM_001099694.2:c.-19-3138_-19-3126dup	NM_001099694.2:c.-19-3139_-19-3126dup	NM_001099694.2:c.-19-3140_-19-3126dup	NM_001099694.2:c.-19-3141_-19-3126dup	NM_001099694.2:c.-19-3142_-19-3126dup	NM_001099694.2:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	NM_001099694.2:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	NM_001099694.2:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant 2	NM_001366182.2:c.-19-3142=	NM_001366182.2:c.-19-3132_-19-3126del	NM_001366182.2:c.-19-3131_-19-3126del	NM_001366182.2:c.-19-3129_-19-3126del	NM_001366182.2:c.-19-3128_-19-3126del	NM_001366182.2:c.-19-3127_-19-3126del	NM_001366182.2:c.-19-3126del	NM_001366182.2:c.-19-3126dup	NM_001366182.2:c.-19-3127_-19-3126dup	NM_001366182.2:c.-19-3128_-19-3126dup	NM_001366182.2:c.-19-3129_-19-3126dup	NM_001366182.2:c.-19-3130_-19-3126dup	NM_001366182.2:c.-19-3131_-19-3126dup	NM_001366182.2:c.-19-3132_-19-3126dup	NM_001366182.2:c.-19-3133_-19-3126dup	NM_001366182.2:c.-19-3134_-19-3126dup	NM_001366182.2:c.-19-3135_-19-3126dup	NM_001366182.2:c.-19-3136_-19-3126dup	NM_001366182.2:c.-19-3137_-19-3126dup	NM_001366182.2:c.-19-3138_-19-3126dup	NM_001366182.2:c.-19-3139_-19-3126dup	NM_001366182.2:c.-19-3140_-19-3126dup	NM_001366182.2:c.-19-3141_-19-3126dup	NM_001366182.2:c.-19-3142_-19-3126dup	NM_001366182.2:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	NM_001366182.2:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	NM_001366182.2:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X1	XM_005258527.1:c.-19-3142=	XM_005258527.1:c.-19-3132_-19-3126del	XM_005258527.1:c.-19-3131_-19-3126del	XM_005258527.1:c.-19-3129_-19-3126del	XM_005258527.1:c.-19-3128_-19-3126del	XM_005258527.1:c.-19-3127_-19-3126del	XM_005258527.1:c.-19-3126del	XM_005258527.1:c.-19-3126dup	XM_005258527.1:c.-19-3127_-19-3126dup	XM_005258527.1:c.-19-3128_-19-3126dup	XM_005258527.1:c.-19-3129_-19-3126dup	XM_005258527.1:c.-19-3130_-19-3126dup	XM_005258527.1:c.-19-3131_-19-3126dup	XM_005258527.1:c.-19-3132_-19-3126dup	XM_005258527.1:c.-19-3133_-19-3126dup	XM_005258527.1:c.-19-3134_-19-3126dup	XM_005258527.1:c.-19-3135_-19-3126dup	XM_005258527.1:c.-19-3136_-19-3126dup	XM_005258527.1:c.-19-3137_-19-3126dup	XM_005258527.1:c.-19-3138_-19-3126dup	XM_005258527.1:c.-19-3139_-19-3126dup	XM_005258527.1:c.-19-3140_-19-3126dup	XM_005258527.1:c.-19-3141_-19-3126dup	XM_005258527.1:c.-19-3142_-19-3126dup	XM_005258527.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	XM_005258527.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	XM_005258527.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X1	XM_047438189.1:c.-19-3142=	XM_047438189.1:c.-19-3132_-19-3126del	XM_047438189.1:c.-19-3131_-19-3126del	XM_047438189.1:c.-19-3129_-19-3126del	XM_047438189.1:c.-19-3128_-19-3126del	XM_047438189.1:c.-19-3127_-19-3126del	XM_047438189.1:c.-19-3126del	XM_047438189.1:c.-19-3126dup	XM_047438189.1:c.-19-3127_-19-3126dup	XM_047438189.1:c.-19-3128_-19-3126dup	XM_047438189.1:c.-19-3129_-19-3126dup	XM_047438189.1:c.-19-3130_-19-3126dup	XM_047438189.1:c.-19-3131_-19-3126dup	XM_047438189.1:c.-19-3132_-19-3126dup	XM_047438189.1:c.-19-3133_-19-3126dup	XM_047438189.1:c.-19-3134_-19-3126dup	XM_047438189.1:c.-19-3135_-19-3126dup	XM_047438189.1:c.-19-3136_-19-3126dup	XM_047438189.1:c.-19-3137_-19-3126dup	XM_047438189.1:c.-19-3138_-19-3126dup	XM_047438189.1:c.-19-3139_-19-3126dup	XM_047438189.1:c.-19-3140_-19-3126dup	XM_047438189.1:c.-19-3141_-19-3126dup	XM_047438189.1:c.-19-3142_-19-3126dup	XM_047438189.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	XM_047438189.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	XM_047438189.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X2	XM_047438190.1:c.-19-3142=	XM_047438190.1:c.-19-3132_-19-3126del	XM_047438190.1:c.-19-3131_-19-3126del	XM_047438190.1:c.-19-3129_-19-3126del	XM_047438190.1:c.-19-3128_-19-3126del	XM_047438190.1:c.-19-3127_-19-3126del	XM_047438190.1:c.-19-3126del	XM_047438190.1:c.-19-3126dup	XM_047438190.1:c.-19-3127_-19-3126dup	XM_047438190.1:c.-19-3128_-19-3126dup	XM_047438190.1:c.-19-3129_-19-3126dup	XM_047438190.1:c.-19-3130_-19-3126dup	XM_047438190.1:c.-19-3131_-19-3126dup	XM_047438190.1:c.-19-3132_-19-3126dup	XM_047438190.1:c.-19-3133_-19-3126dup	XM_047438190.1:c.-19-3134_-19-3126dup	XM_047438190.1:c.-19-3135_-19-3126dup	XM_047438190.1:c.-19-3136_-19-3126dup	XM_047438190.1:c.-19-3137_-19-3126dup	XM_047438190.1:c.-19-3138_-19-3126dup	XM_047438190.1:c.-19-3139_-19-3126dup	XM_047438190.1:c.-19-3140_-19-3126dup	XM_047438190.1:c.-19-3141_-19-3126dup	XM_047438190.1:c.-19-3142_-19-3126dup	XM_047438190.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	XM_047438190.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	XM_047438190.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X3	XM_047438191.1:c.-19-3142=	XM_047438191.1:c.-19-3132_-19-3126del	XM_047438191.1:c.-19-3131_-19-3126del	XM_047438191.1:c.-19-3129_-19-3126del	XM_047438191.1:c.-19-3128_-19-3126del	XM_047438191.1:c.-19-3127_-19-3126del	XM_047438191.1:c.-19-3126del	XM_047438191.1:c.-19-3126dup	XM_047438191.1:c.-19-3127_-19-3126dup	XM_047438191.1:c.-19-3128_-19-3126dup	XM_047438191.1:c.-19-3129_-19-3126dup	XM_047438191.1:c.-19-3130_-19-3126dup	XM_047438191.1:c.-19-3131_-19-3126dup	XM_047438191.1:c.-19-3132_-19-3126dup	XM_047438191.1:c.-19-3133_-19-3126dup	XM_047438191.1:c.-19-3134_-19-3126dup	XM_047438191.1:c.-19-3135_-19-3126dup	XM_047438191.1:c.-19-3136_-19-3126dup	XM_047438191.1:c.-19-3137_-19-3126dup	XM_047438191.1:c.-19-3138_-19-3126dup	XM_047438191.1:c.-19-3139_-19-3126dup	XM_047438191.1:c.-19-3140_-19-3126dup	XM_047438191.1:c.-19-3141_-19-3126dup	XM_047438191.1:c.-19-3142_-19-3126dup	XM_047438191.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	XM_047438191.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	XM_047438191.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X4	XM_047438192.1:c.-19-3142=	XM_047438192.1:c.-19-3132_-19-3126del	XM_047438192.1:c.-19-3131_-19-3126del	XM_047438192.1:c.-19-3129_-19-3126del	XM_047438192.1:c.-19-3128_-19-3126del	XM_047438192.1:c.-19-3127_-19-3126del	XM_047438192.1:c.-19-3126del	XM_047438192.1:c.-19-3126dup	XM_047438192.1:c.-19-3127_-19-3126dup	XM_047438192.1:c.-19-3128_-19-3126dup	XM_047438192.1:c.-19-3129_-19-3126dup	XM_047438192.1:c.-19-3130_-19-3126dup	XM_047438192.1:c.-19-3131_-19-3126dup	XM_047438192.1:c.-19-3132_-19-3126dup	XM_047438192.1:c.-19-3133_-19-3126dup	XM_047438192.1:c.-19-3134_-19-3126dup	XM_047438192.1:c.-19-3135_-19-3126dup	XM_047438192.1:c.-19-3136_-19-3126dup	XM_047438192.1:c.-19-3137_-19-3126dup	XM_047438192.1:c.-19-3138_-19-3126dup	XM_047438192.1:c.-19-3139_-19-3126dup	XM_047438192.1:c.-19-3140_-19-3126dup	XM_047438192.1:c.-19-3141_-19-3126dup	XM_047438192.1:c.-19-3142_-19-3126dup	XM_047438192.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	XM_047438192.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	XM_047438192.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X5	XM_047438193.1:c.-19-3142=	XM_047438193.1:c.-19-3132_-19-3126del	XM_047438193.1:c.-19-3131_-19-3126del	XM_047438193.1:c.-19-3129_-19-3126del	XM_047438193.1:c.-19-3128_-19-3126del	XM_047438193.1:c.-19-3127_-19-3126del	XM_047438193.1:c.-19-3126del	XM_047438193.1:c.-19-3126dup	XM_047438193.1:c.-19-3127_-19-3126dup	XM_047438193.1:c.-19-3128_-19-3126dup	XM_047438193.1:c.-19-3129_-19-3126dup	XM_047438193.1:c.-19-3130_-19-3126dup	XM_047438193.1:c.-19-3131_-19-3126dup	XM_047438193.1:c.-19-3132_-19-3126dup	XM_047438193.1:c.-19-3133_-19-3126dup	XM_047438193.1:c.-19-3134_-19-3126dup	XM_047438193.1:c.-19-3135_-19-3126dup	XM_047438193.1:c.-19-3136_-19-3126dup	XM_047438193.1:c.-19-3137_-19-3126dup	XM_047438193.1:c.-19-3138_-19-3126dup	XM_047438193.1:c.-19-3139_-19-3126dup	XM_047438193.1:c.-19-3140_-19-3126dup	XM_047438193.1:c.-19-3141_-19-3126dup	XM_047438193.1:c.-19-3142_-19-3126dup	XM_047438193.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTT	XM_047438193.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTT	XM_047438193.1:c.-19-3126_-19-3125insTTTTTTTTTTTTTTTTTTTT
ZNF578 transcript variant X6	XM_047438194.1:c.-99-3142=	XM_047438194.1:c.-99-3132_-99-3126del	XM_047438194.1:c.-99-3131_-99-3126del	XM_047438194.1:c.-99-3129_-99-3126del	XM_047438194.1:c.-99-3128_-99-3126del	XM_047438194.1:c.-99-3127_-99-3126del	XM_047438194.1:c.-99-3126del	XM_047438194.1:c.-99-3126dup	XM_047438194.1:c.-99-3127_-99-3126dup	XM_047438194.1:c.-99-3128_-99-3126dup	XM_047438194.1:c.-99-3129_-99-3126dup	XM_047438194.1:c.-99-3130_-99-3126dup	XM_047438194.1:c.-99-3131_-99-3126dup	XM_047438194.1:c.-99-3132_-99-3126dup	XM_047438194.1:c.-99-3133_-99-3126dup	XM_047438194.1:c.-99-3134_-99-3126dup	XM_047438194.1:c.-99-3135_-99-3126dup	XM_047438194.1:c.-99-3136_-99-3126dup	XM_047438194.1:c.-99-3137_-99-3126dup	XM_047438194.1:c.-99-3138_-99-3126dup	XM_047438194.1:c.-99-3139_-99-3126dup	XM_047438194.1:c.-99-3140_-99-3126dup	XM_047438194.1:c.-99-3141_-99-3126dup	XM_047438194.1:c.-99-3142_-99-3126dup	XM_047438194.1:c.-99-3126_-99-3125insTTTTTTTTTTTTTTTTTT	XM_047438194.1:c.-99-3126_-99-3125insTTTTTTTTTTTTTTTTTTT	XM_047438194.1:c.-99-3126_-99-3125insTTTTTTTTTTTTTTTTTTTT

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#.

67 SubSNP, 50 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss96282681	Dec 05, 2013 (138)
2	PJP	ss294966939	May 09, 2011 (137)
3	SSMP	ss664451752	Apr 01, 2015 (144)
4	1000GENOMES	ss1378248539	Aug 21, 2014 (142)
5	EVA_UK10K_ALSPAC	ss1709243589	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1709243704	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710798155	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710798156	Apr 01, 2015 (144)
9	SWEGEN	ss3017645664	Nov 08, 2017 (151)
10	URBANLAB	ss3650938308	Oct 12, 2018 (152)
11	EVA_DECODE	ss3702968929	Jul 13, 2019 (153)
12	EVA_DECODE	ss3702968930	Jul 13, 2019 (153)
13	EVA_DECODE	ss3702968931	Jul 13, 2019 (153)
14	EVA_DECODE	ss3702968932	Jul 13, 2019 (153)
15	EVA_DECODE	ss3702968933	Jul 13, 2019 (153)
16	PACBIO	ss3788560107	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3821432299	Jul 13, 2019 (153)
18	EVA	ss3835514374	Apr 27, 2020 (154)
19	KOGIC	ss3981579817	Apr 27, 2020 (154)
20	KOGIC	ss3981579818	Apr 27, 2020 (154)
21	KOGIC	ss3981579819	Apr 27, 2020 (154)
22	KOGIC	ss3981579820	Apr 27, 2020 (154)
23	KOGIC	ss3981579821	Apr 27, 2020 (154)
24	KOGIC	ss3981579822	Apr 27, 2020 (154)
25	GNOMAD	ss4332948309	Apr 27, 2021 (155)
26	GNOMAD	ss4332948313	Apr 27, 2021 (155)
27	GNOMAD	ss4332948316	Apr 27, 2021 (155)
28	GNOMAD	ss4332948317	Apr 27, 2021 (155)
29	GNOMAD	ss4332948318	Apr 27, 2021 (155)
30	GNOMAD	ss4332948319	Apr 27, 2021 (155)
31	GNOMAD	ss4332948320	Apr 27, 2021 (155)
32	GNOMAD	ss4332948321	Apr 27, 2021 (155)
33	GNOMAD	ss4332948322	Apr 27, 2021 (155)
34	GNOMAD	ss4332948323	Apr 27, 2021 (155)
35	GNOMAD	ss4332948324	Apr 27, 2021 (155)
36	GNOMAD	ss4332948326	Apr 27, 2021 (155)
37	GNOMAD	ss4332948327	Apr 27, 2021 (155)
38	GNOMAD	ss4332948328	Apr 27, 2021 (155)
39	GNOMAD	ss4332948329	Apr 27, 2021 (155)
40	GNOMAD	ss4332948330	Apr 27, 2021 (155)
41	GNOMAD	ss4332948331	Apr 27, 2021 (155)
42	GNOMAD	ss4332948332	Apr 27, 2021 (155)
43	GNOMAD	ss4332948333	Apr 27, 2021 (155)
44	GNOMAD	ss4332948334	Apr 27, 2021 (155)
45	GNOMAD	ss4332948336	Apr 27, 2021 (155)
46	GNOMAD	ss4332948337	Apr 27, 2021 (155)
47	GNOMAD	ss4332948338	Apr 27, 2021 (155)
48	GNOMAD	ss4332948339	Apr 27, 2021 (155)
49	GNOMAD	ss4332948340	Apr 27, 2021 (155)
50	TOMMO_GENOMICS	ss5228244094	Apr 27, 2021 (155)
51	TOMMO_GENOMICS	ss5228244095	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5228244096	Apr 27, 2021 (155)
53	TOMMO_GENOMICS	ss5228244097	Apr 27, 2021 (155)
54	TOMMO_GENOMICS	ss5228244098	Apr 27, 2021 (155)
55	TOMMO_GENOMICS	ss5228244099	Apr 27, 2021 (155)
56	HUGCELL_USP	ss5500081091	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5500081092	Oct 13, 2022 (156)
58	HUGCELL_USP	ss5500081093	Oct 13, 2022 (156)
59	HUGCELL_USP	ss5500081094	Oct 13, 2022 (156)
60	HUGCELL_USP	ss5500081095	Oct 13, 2022 (156)
61	HUGCELL_USP	ss5500081096	Oct 13, 2022 (156)
62	TOMMO_GENOMICS	ss5787041538	Oct 13, 2022 (156)
63	TOMMO_GENOMICS	ss5787041539	Oct 13, 2022 (156)
64	TOMMO_GENOMICS	ss5787041540	Oct 13, 2022 (156)
65	TOMMO_GENOMICS	ss5787041541	Oct 13, 2022 (156)
66	TOMMO_GENOMICS	ss5787041542	Oct 13, 2022 (156)
67	TOMMO_GENOMICS	ss5787041543	Oct 13, 2022 (156)
68	1000Genomes	NC_000019.9 - 53001938	Oct 12, 2018 (152)
69	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42618464 (NC_000019.9:53001937:T: 1314/3854) Row 42618465 (NC_000019.9:53001937::TTTT 506/3854)	-	Oct 12, 2018 (152)
70	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42618464 (NC_000019.9:53001937:T: 1314/3854) Row 42618465 (NC_000019.9:53001937::TTTT 506/3854)	-	Oct 12, 2018 (152)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542898311 (NC_000019.10:52498684::T 811/98884) Row 542898315 (NC_000019.10:52498684::TT 11/98890) Row 542898318 (NC_000019.10:52498684::TTT 98/98878)...	-	Apr 27, 2021 (155)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 37957818 (NC_000019.10:52498686::TTTT 46/1828) Row 37957819 (NC_000019.10:52498684:TT: 76/1828) Row 37957820 (NC_000019.10:52498685:T: 774/1828)...	-	Apr 27, 2020 (154)
98	Korean Genome Project Submission ignored due to conflicting rows: Row 37957818 (NC_000019.10:52498686::TTTT 46/1828) Row 37957819 (NC_000019.10:52498684:TT: 76/1828) Row 37957820 (NC_000019.10:52498685:T: 774/1828)...	-	Apr 27, 2020 (154)
99	Korean Genome Project Submission ignored due to conflicting rows: Row 37957818 (NC_000019.10:52498686::TTTT 46/1828) Row 37957819 (NC_000019.10:52498684:TT: 76/1828) Row 37957820 (NC_000019.10:52498685:T: 774/1828)...	-	Apr 27, 2020 (154)
100	Korean Genome Project Submission ignored due to conflicting rows: Row 37957818 (NC_000019.10:52498686::TTTT 46/1828) Row 37957819 (NC_000019.10:52498684:TT: 76/1828) Row 37957820 (NC_000019.10:52498685:T: 774/1828)...	-	Apr 27, 2020 (154)
101	Korean Genome Project Submission ignored due to conflicting rows: Row 37957818 (NC_000019.10:52498686::TTTT 46/1828) Row 37957819 (NC_000019.10:52498684:TT: 76/1828) Row 37957820 (NC_000019.10:52498685:T: 774/1828)...	-	Apr 27, 2020 (154)
102	Korean Genome Project Submission ignored due to conflicting rows: Row 37957818 (NC_000019.10:52498686::TTTT 46/1828) Row 37957819 (NC_000019.10:52498684:TT: 76/1828) Row 37957820 (NC_000019.10:52498685:T: 774/1828)...	-	Apr 27, 2020 (154)
103	8.3KJPN Submission ignored due to conflicting rows: Row 86213401 (NC_000019.9:53001937:T: 7445/16544) Row 86213402 (NC_000019.9:53001937::TTTT 292/16544) Row 86213403 (NC_000019.9:53001937::T 340/16544)...	-	Apr 27, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 86213401 (NC_000019.9:53001937:T: 7445/16544) Row 86213402 (NC_000019.9:53001937::TTTT 292/16544) Row 86213403 (NC_000019.9:53001937::T 340/16544)...	-	Apr 27, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 86213401 (NC_000019.9:53001937:T: 7445/16544) Row 86213402 (NC_000019.9:53001937::TTTT 292/16544) Row 86213403 (NC_000019.9:53001937::T 340/16544)...	-	Apr 27, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 86213401 (NC_000019.9:53001937:T: 7445/16544) Row 86213402 (NC_000019.9:53001937::TTTT 292/16544) Row 86213403 (NC_000019.9:53001937::T 340/16544)...	-	Apr 27, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 86213401 (NC_000019.9:53001937:T: 7445/16544) Row 86213402 (NC_000019.9:53001937::TTTT 292/16544) Row 86213403 (NC_000019.9:53001937::T 340/16544)...	-	Apr 27, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 86213401 (NC_000019.9:53001937:T: 7445/16544) Row 86213402 (NC_000019.9:53001937::TTTT 292/16544) Row 86213403 (NC_000019.9:53001937::T 340/16544)...	-	Apr 27, 2021 (155)
109	14KJPN Submission ignored due to conflicting rows: Row 120878642 (NC_000019.10:52498684:T: 13258/28022) Row 120878643 (NC_000019.10:52498684::T 628/28022) Row 120878644 (NC_000019.10:52498684::TTTT 493/28022)...	-	Oct 13, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 120878642 (NC_000019.10:52498684:T: 13258/28022) Row 120878643 (NC_000019.10:52498684::T 628/28022) Row 120878644 (NC_000019.10:52498684::TTTT 493/28022)...	-	Oct 13, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 120878642 (NC_000019.10:52498684:T: 13258/28022) Row 120878643 (NC_000019.10:52498684::T 628/28022) Row 120878644 (NC_000019.10:52498684::TTTT 493/28022)...	-	Oct 13, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 120878642 (NC_000019.10:52498684:T: 13258/28022) Row 120878643 (NC_000019.10:52498684::T 628/28022) Row 120878644 (NC_000019.10:52498684::TTTT 493/28022)...	-	Oct 13, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 120878642 (NC_000019.10:52498684:T: 13258/28022) Row 120878643 (NC_000019.10:52498684::T 628/28022) Row 120878644 (NC_000019.10:52498684::TTTT 493/28022)...	-	Oct 13, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 120878642 (NC_000019.10:52498684:T: 13258/28022) Row 120878643 (NC_000019.10:52498684::T 628/28022) Row 120878644 (NC_000019.10:52498684::TTTT 493/28022)...	-	Oct 13, 2022 (156)
115	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42618464 (NC_000019.9:53001937:T: 1297/3708) Row 42618465 (NC_000019.9:53001937::TTTT 474/3708)	-	Oct 12, 2018 (152)
116	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42618464 (NC_000019.9:53001937:T: 1297/3708) Row 42618465 (NC_000019.9:53001937::TTTT 474/3708)	-	Oct 12, 2018 (152)
117	ALFA	NC_000019.10 - 52498685	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)
rs144677179	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4332948340	NC_000019.10:52498684:TTTTTTT:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5228244097	NC_000019.9:53001937:TTTTTT:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4332948339, ss5787041542	NC_000019.10:52498684:TTTTTT:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4332948338	NC_000019.10:52498684:TTTT:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4332948337	NC_000019.10:52498684:TTT:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3981579818, ss4332948336, ss5500081091	NC_000019.10:52498684:TT:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
76981008, ss664451752, ss1378248539, ss1709243589, ss1709243704, ss3017645664, ss3788560107, ss3835514374, ss5228244094	NC_000019.9:53001937:T:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3650938308, ss3702968929, ss3821432299, ss5500081092, ss5787041538	NC_000019.10:52498684:T:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3981579819	NC_000019.10:52498685:T:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss96282681	NT_011109.16:25270171:T:	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5228244096	NC_000019.9:53001937::T	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4332948309, ss5787041539	NC_000019.10:52498684::T	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3702968930	NC_000019.10:52498685::T	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3981579820	NC_000019.10:52498686::T	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4332948313	NC_000019.10:52498684::TT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4332948316	NC_000019.10:52498684::TTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294966939	NC_000019.8:57693750::TTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5228244095	NC_000019.9:53001937::TTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss1710798155, ss1710798156	NC_000019.9:53001938::TTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948317, ss5500081095, ss5787041540	NC_000019.10:52498684::TTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3702968931	NC_000019.10:52498685::TTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3981579817	NC_000019.10:52498686::TTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948318	NC_000019.10:52498684::TTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948319	NC_000019.10:52498684::TTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948320	NC_000019.10:52498684::TTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948321	NC_000019.10:52498684::TTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3702968932	NC_000019.10:52498685::TTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948322, ss5500081096	NC_000019.10:52498684::TTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5228244098	NC_000019.9:53001937::TTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948323, ss5500081093, ss5787041541	NC_000019.10:52498684::TTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3981579822	NC_000019.10:52498686::TTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5228244099	NC_000019.9:53001937::TTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948324, ss5500081094, ss5787041543	NC_000019.10:52498684::TTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3702968933	NC_000019.10:52498685::TTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3981579821	NC_000019.10:52498686::TTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948326	NC_000019.10:52498684::TTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948327	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948328	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948329	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
2831813759	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948330	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948331	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948332	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948333	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4332948334	NC_000019.10:52498684::TTTTTTTTTTT… NC_000019.10:52498684::TTTTTTTTTTTTTTTTTTTT	NC_000019.10:52498684:TTTTTTTTTTTT… NC_000019.10:52498684:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs72019256

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs72019256