Name: rs58896129
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.

rs58896129

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:105011850-105011872 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₄ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₄ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₉ / dup(A)₂₁
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.01863 (283/15194, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KMT2E-AS1 : Non Coding Transcript 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	15194	AAAAAAAAAAAAAAAAAAAAAAA=0.96308	AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00079, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00487, AAAAAAAAAAAAAAAAAAAAAAAA=0.01863, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00540, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00369, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00355, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	0.96987	0.005972	0.024159	32
European	Sub	12502	AAAAAAAAAAAAAAAAAAAAAAA=0.95513	AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00096, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00592, AAAAAAAAAAAAAAAAAAAAAAAA=0.02264, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00656, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00448, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00432, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000	0.963135	0.007307	0.029558	32
African	Sub	1568	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	60	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1508	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	86	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	112	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	506	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	72	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	348	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

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	15194	(A)₂₃=0.96308	del(A)₁₂=0.00000, del(A)₁₁=0.00079, del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₇=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00487, dupA=0.01863, dupAA=0.00540, dupAAA=0.00000, dup(A)₄=0.00000, dup(A)₅=0.00000, dup(A)₆=0.00355, dup(A)₇=0.00369
Allele Frequency Aggregator	European	Sub	12502	(A)₂₃=0.95513	del(A)₁₂=0.00000, del(A)₁₁=0.00096, del(A)₁₀=0.00000, del(A)₉=0.00000, del(A)₈=0.00000, del(A)₇=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00592, dupA=0.02264, dupAA=0.00656, dupAAA=0.00000, dup(A)₄=0.00000, dup(A)₅=0.00000, dup(A)₆=0.00432, dup(A)₇=0.00448
Allele Frequency Aggregator	African	Sub	1568	(A)₂₃=1.0000	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	506	(A)₂₃=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Other	Sub	348	(A)₂₃=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	112	(A)₂₃=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Asian	Sub	86	(A)₂₃=1.00	del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	72	(A)₂₃=1.00	del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00

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 7	NC_000007.14:g.105011859_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011861_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011862_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011863_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011864_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011865_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011866_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011867_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011868_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011869_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011870_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011871_105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011872del
GRCh38.p14 chr 7	NC_000007.14:g.105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011871_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011870_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011869_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011868_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011867_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011866_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011864_105011872dup
GRCh38.p14 chr 7	NC_000007.14:g.105011852_105011872dup
GRCh37.p13 chr 7	NC_000007.13:g.104652306_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652308_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652309_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652310_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652311_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652312_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652313_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652314_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652315_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652316_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652317_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652318_104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652319del
GRCh37.p13 chr 7	NC_000007.13:g.104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652318_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652317_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652316_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652315_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652314_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652313_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652311_104652319dup
GRCh37.p13 chr 7	NC_000007.13:g.104652299_104652319dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2670_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2672_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2673_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2674_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2675_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2676_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2677_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2678_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2679_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2680_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2681_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2682_2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2683del
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2682_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2681_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2680_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2679_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2678_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2677_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2675_2683dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2663_2683dup

Gene: KMT2E-AS1, KMT2E antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KMT2E-AS1 transcript	NR_024586.1:n.2279_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2281_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2282_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2283_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2284_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2285_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2286_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2287_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2288_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2289_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2290_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2291_2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2292del	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2291_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2290_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2289_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2288_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2287_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2286_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2284_2292dup	N/A	Non Coding Transcript Variant
KMT2E-AS1 transcript	NR_024586.1:n.2272_2292dup	N/A	Non Coding Transcript 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	(A)₂₃=	del(A)₁₄	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₉	dup(A)₂₁
GRCh38.p14 chr 7	NC_000007.14:g.105011850_105011872=	NC_000007.14:g.105011859_105011872del	NC_000007.14:g.105011861_105011872del	NC_000007.14:g.105011862_105011872del	NC_000007.14:g.105011863_105011872del	NC_000007.14:g.105011864_105011872del	NC_000007.14:g.105011865_105011872del	NC_000007.14:g.105011866_105011872del	NC_000007.14:g.105011867_105011872del	NC_000007.14:g.105011868_105011872del	NC_000007.14:g.105011869_105011872del	NC_000007.14:g.105011870_105011872del	NC_000007.14:g.105011871_105011872del	NC_000007.14:g.105011872del	NC_000007.14:g.105011872dup	NC_000007.14:g.105011871_105011872dup	NC_000007.14:g.105011870_105011872dup	NC_000007.14:g.105011869_105011872dup	NC_000007.14:g.105011868_105011872dup	NC_000007.14:g.105011867_105011872dup	NC_000007.14:g.105011866_105011872dup	NC_000007.14:g.105011864_105011872dup	NC_000007.14:g.105011852_105011872dup
GRCh37.p13 chr 7	NC_000007.13:g.104652297_104652319=	NC_000007.13:g.104652306_104652319del	NC_000007.13:g.104652308_104652319del	NC_000007.13:g.104652309_104652319del	NC_000007.13:g.104652310_104652319del	NC_000007.13:g.104652311_104652319del	NC_000007.13:g.104652312_104652319del	NC_000007.13:g.104652313_104652319del	NC_000007.13:g.104652314_104652319del	NC_000007.13:g.104652315_104652319del	NC_000007.13:g.104652316_104652319del	NC_000007.13:g.104652317_104652319del	NC_000007.13:g.104652318_104652319del	NC_000007.13:g.104652319del	NC_000007.13:g.104652319dup	NC_000007.13:g.104652318_104652319dup	NC_000007.13:g.104652317_104652319dup	NC_000007.13:g.104652316_104652319dup	NC_000007.13:g.104652315_104652319dup	NC_000007.13:g.104652314_104652319dup	NC_000007.13:g.104652313_104652319dup	NC_000007.13:g.104652311_104652319dup	NC_000007.13:g.104652299_104652319dup
inactive RefSeqGene (LRG_1404)	NG_033949.1:g.2661_2683=	NG_033949.1:g.2670_2683del	NG_033949.1:g.2672_2683del	NG_033949.1:g.2673_2683del	NG_033949.1:g.2674_2683del	NG_033949.1:g.2675_2683del	NG_033949.1:g.2676_2683del	NG_033949.1:g.2677_2683del	NG_033949.1:g.2678_2683del	NG_033949.1:g.2679_2683del	NG_033949.1:g.2680_2683del	NG_033949.1:g.2681_2683del	NG_033949.1:g.2682_2683del	NG_033949.1:g.2683del	NG_033949.1:g.2683dup	NG_033949.1:g.2682_2683dup	NG_033949.1:g.2681_2683dup	NG_033949.1:g.2680_2683dup	NG_033949.1:g.2679_2683dup	NG_033949.1:g.2678_2683dup	NG_033949.1:g.2677_2683dup	NG_033949.1:g.2675_2683dup	NG_033949.1:g.2663_2683dup
KMT2E-AS1 transcript	NR_024586.1:n.2270_2292=	NR_024586.1:n.2279_2292del	NR_024586.1:n.2281_2292del	NR_024586.1:n.2282_2292del	NR_024586.1:n.2283_2292del	NR_024586.1:n.2284_2292del	NR_024586.1:n.2285_2292del	NR_024586.1:n.2286_2292del	NR_024586.1:n.2287_2292del	NR_024586.1:n.2288_2292del	NR_024586.1:n.2289_2292del	NR_024586.1:n.2290_2292del	NR_024586.1:n.2291_2292del	NR_024586.1:n.2292del	NR_024586.1:n.2292dup	NR_024586.1:n.2291_2292dup	NR_024586.1:n.2290_2292dup	NR_024586.1:n.2289_2292dup	NR_024586.1:n.2288_2292dup	NR_024586.1:n.2287_2292dup	NR_024586.1:n.2286_2292dup	NR_024586.1:n.2284_2292dup	NR_024586.1:n.2272_2292dup

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#.

47 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80334529	Dec 15, 2007 (129)
2	1000GENOMES	ss1377485571	Aug 21, 2014 (142)
3	EVA	ss3830740436	Apr 26, 2020 (154)
4	KOGIC	ss3962275605	Apr 26, 2020 (154)
5	KOGIC	ss3962275606	Apr 26, 2020 (154)
6	KOGIC	ss3962275607	Apr 26, 2020 (154)
7	KOGIC	ss3962275608	Apr 26, 2020 (154)
8	KOGIC	ss3962275609	Apr 26, 2020 (154)
9	KOGIC	ss3962275610	Apr 26, 2020 (154)
10	EVA	ss3986040971	Apr 26, 2021 (155)
11	GNOMAD	ss4170088462	Apr 26, 2021 (155)
12	GNOMAD	ss4170088463	Apr 26, 2021 (155)
13	GNOMAD	ss4170088464	Apr 26, 2021 (155)
14	GNOMAD	ss4170088465	Apr 26, 2021 (155)
15	GNOMAD	ss4170088466	Apr 26, 2021 (155)
16	GNOMAD	ss4170088467	Apr 26, 2021 (155)
17	GNOMAD	ss4170088468	Apr 26, 2021 (155)
18	GNOMAD	ss4170088469	Apr 26, 2021 (155)
19	GNOMAD	ss4170088470	Apr 26, 2021 (155)
20	GNOMAD	ss4170088473	Apr 26, 2021 (155)
21	GNOMAD	ss4170088474	Apr 26, 2021 (155)
22	GNOMAD	ss4170088475	Apr 26, 2021 (155)
23	GNOMAD	ss4170088476	Apr 26, 2021 (155)
24	GNOMAD	ss4170088477	Apr 26, 2021 (155)
25	GNOMAD	ss4170088478	Apr 26, 2021 (155)
26	GNOMAD	ss4170088479	Apr 26, 2021 (155)
27	GNOMAD	ss4170088480	Apr 26, 2021 (155)
28	GNOMAD	ss4170088481	Apr 26, 2021 (155)
29	TOPMED	ss4757828382	Apr 26, 2021 (155)
30	TOPMED	ss4757828383	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5184849920	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5184849921	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5184849922	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5184849923	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5184849924	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5184849925	Apr 26, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5274171077	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5274171078	Oct 16, 2022 (156)
39	HUGCELL_USP	ss5471116188	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5471116190	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5471116191	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5471116192	Oct 16, 2022 (156)
43	TOMMO_GENOMICS	ss5725628058	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5725628060	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5725628061	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5725628062	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5725628063	Oct 16, 2022 (156)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 271747443 (NC_000007.14:105011849::A 8085/47126) Row 271747444 (NC_000007.14:105011849::AA 2467/48494) Row 271747445 (NC_000007.14:105011849::AAA 356/48602)...	-	Apr 26, 2021 (155)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 18653606 (NC_000007.14:105011850:A: 250/1672) Row 18653607 (NC_000007.14:105011851::AAA 15/1672) Row 18653608 (NC_000007.14:105011849:AA: 45/1672)...	-	Apr 26, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 18653606 (NC_000007.14:105011850:A: 250/1672) Row 18653607 (NC_000007.14:105011851::AAA 15/1672) Row 18653608 (NC_000007.14:105011849:AA: 45/1672)...	-	Apr 26, 2020 (154)
69	Korean Genome Project Submission ignored due to conflicting rows: Row 18653606 (NC_000007.14:105011850:A: 250/1672) Row 18653607 (NC_000007.14:105011851::AAA 15/1672) Row 18653608 (NC_000007.14:105011849:AA: 45/1672)...	-	Apr 26, 2020 (154)
70	Korean Genome Project Submission ignored due to conflicting rows: Row 18653606 (NC_000007.14:105011850:A: 250/1672) Row 18653607 (NC_000007.14:105011851::AAA 15/1672) Row 18653608 (NC_000007.14:105011849:AA: 45/1672)...	-	Apr 26, 2020 (154)
71	Korean Genome Project Submission ignored due to conflicting rows: Row 18653606 (NC_000007.14:105011850:A: 250/1672) Row 18653607 (NC_000007.14:105011851::AAA 15/1672) Row 18653608 (NC_000007.14:105011849:AA: 45/1672)...	-	Apr 26, 2020 (154)
72	Korean Genome Project Submission ignored due to conflicting rows: Row 18653606 (NC_000007.14:105011850:A: 250/1672) Row 18653607 (NC_000007.14:105011851::AAA 15/1672) Row 18653608 (NC_000007.14:105011849:AA: 45/1672)...	-	Apr 26, 2020 (154)
73	8.3KJPN Submission ignored due to conflicting rows: Row 42819227 (NC_000007.13:104652296::AA 592/16742) Row 42819228 (NC_000007.13:104652296:A: 31/16742) Row 42819229 (NC_000007.13:104652296::A 395/16742)...	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 42819227 (NC_000007.13:104652296::AA 592/16742) Row 42819228 (NC_000007.13:104652296:A: 31/16742) Row 42819229 (NC_000007.13:104652296::A 395/16742)...	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 42819227 (NC_000007.13:104652296::AA 592/16742) Row 42819228 (NC_000007.13:104652296:A: 31/16742) Row 42819229 (NC_000007.13:104652296::A 395/16742)...	-	Apr 26, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 42819227 (NC_000007.13:104652296::AA 592/16742) Row 42819228 (NC_000007.13:104652296:A: 31/16742) Row 42819229 (NC_000007.13:104652296::A 395/16742)...	-	Apr 26, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 42819227 (NC_000007.13:104652296::AA 592/16742) Row 42819228 (NC_000007.13:104652296:A: 31/16742) Row 42819229 (NC_000007.13:104652296::A 395/16742)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 42819227 (NC_000007.13:104652296::AA 592/16742) Row 42819228 (NC_000007.13:104652296:A: 31/16742) Row 42819229 (NC_000007.13:104652296::A 395/16742)...	-	Apr 26, 2021 (155)
79	14KJPN Submission ignored due to conflicting rows: Row 59465162 (NC_000007.14:105011849:A: 69/28242) Row 59465164 (NC_000007.14:105011849::AA 1123/28242) Row 59465165 (NC_000007.14:105011849::A 674/28242)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 59465162 (NC_000007.14:105011849:A: 69/28242) Row 59465164 (NC_000007.14:105011849::AA 1123/28242) Row 59465165 (NC_000007.14:105011849::A 674/28242)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 59465162 (NC_000007.14:105011849:A: 69/28242) Row 59465164 (NC_000007.14:105011849::AA 1123/28242) Row 59465165 (NC_000007.14:105011849::A 674/28242)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 59465162 (NC_000007.14:105011849:A: 69/28242) Row 59465164 (NC_000007.14:105011849::AA 1123/28242) Row 59465165 (NC_000007.14:105011849::A 674/28242)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 59465162 (NC_000007.14:105011849:A: 69/28242) Row 59465164 (NC_000007.14:105011849::AA 1123/28242) Row 59465165 (NC_000007.14:105011849::A 674/28242)...	-	Oct 16, 2022 (156)
84	TopMed Submission ignored due to conflicting rows: Row 595205941 (NC_000007.14:105011849::AAAAAA 1/264690) Row 595205942 (NC_000007.14:105011849:AAAAAAA: 104/264690)	-	Apr 26, 2021 (155)
85	TopMed Submission ignored due to conflicting rows: Row 595205941 (NC_000007.14:105011849::AAAAAA 1/264690) Row 595205942 (NC_000007.14:105011849:AAAAAAA: 104/264690)	-	Apr 26, 2021 (155)
86	ALFA	NC_000007.14 - 105011850	Apr 26, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5184849923	NC_000007.13:104652296:AAAAAAAAAAA… NC_000007.13:104652296:AAAAAAAAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4170088481	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4170088480	NC_000007.14:105011849:AAAAAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4170088479	NC_000007.14:105011849:AAAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4170088478, ss4757828383	NC_000007.14:105011849:AAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4170088477	NC_000007.14:105011849:AAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3986040971	NC_000007.13:104652296:AAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4170088476	NC_000007.14:105011849:AAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4170088475	NC_000007.14:105011849:AAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4170088474	NC_000007.14:105011849:AAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3962275607, ss4170088473, ss5471116192	NC_000007.14:105011849:AA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3830740436, ss5184849921	NC_000007.13:104652296:A:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5471116188, ss5725628058	NC_000007.14:105011849:A:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3962275605	NC_000007.14:105011850:A:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss80334529	NT_007933.15:42685161:A:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5184849922	NC_000007.13:104652296::A	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088462, ss5274171077, ss5471116190, ss5725628061	NC_000007.14:105011849::A	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3962275608	NC_000007.14:105011851::A	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5184849920	NC_000007.13:104652296::AA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088463, ss5274171078, ss5471116191, ss5725628060	NC_000007.14:105011849::AA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3962275609	NC_000007.14:105011851::AA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5184849924	NC_000007.13:104652296::AAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088464, ss5725628062	NC_000007.14:105011849::AAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3962275606	NC_000007.14:105011851::AAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5184849925	NC_000007.13:104652296::AAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1377485571	NC_000007.13:104652297::AAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088465, ss5725628063	NC_000007.14:105011849::AAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3962275610	NC_000007.14:105011851::AAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088466	NC_000007.14:105011849::AAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088467, ss4757828382	NC_000007.14:105011849::AAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088468	NC_000007.14:105011849::AAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10478703698	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088469	NC_000007.14:105011849::AAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4170088470	NC_000007.14:105011849::AAAAAAAAAA… NC_000007.14:105011849::AAAAAAAAAAAAAAAAAAAAA	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss2465907767	NC_000007.13:104652296:AAAAAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA
ss3540026537	NC_000007.14:105011849:AAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
ss3540026538	NC_000007.14:105011849:AAAAAAAAAA:	NC_000007.14:105011849:AAAAAAAAAAA… NC_000007.14:105011849:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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

No publications for rs58896129

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

rs58896129