Name: rs57430782
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.

rs57430782

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:97677005-97677025 (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)₁₃ / del(A)₁₀ / del(A)₈ / de…
del(A)₁₃ / del(A)₁₀ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₃=0.000 (0/244, ALFA)
del(A)₁₀=0.000 (0/244, ALFA)
del(A)₈=0.000 (0/244, ALFA) (+ 19 more)
del(A)₇=0.000 (0/244, ALFA)
del(A)₆=0.000 (0/244, ALFA)
del(A)₅=0.000 (0/244, ALFA)
del(A)₄=0.000 (0/244, ALFA)
delAAA=0.000 (0/244, ALFA)
delAA=0.000 (0/244, ALFA)
delA=0.000 (0/244, ALFA)
dupA=0.000 (0/244, ALFA)
dupAA=0.000 (0/244, ALFA)
dupAAA=0.000 (0/244, ALFA)
dup(A)₄=0.000 (0/244, ALFA)
dup(A)₅=0.000 (0/244, ALFA)
dup(A)₆=0.000 (0/244, ALFA)
dup(A)₇=0.000 (0/244, ALFA)
dup(A)₈=0.000 (0/244, ALFA)
dup(A)₉=0.000 (0/244, ALFA)
dup(A)₁₀=0.000 (0/244, ALFA)
dup(A)₁₁=0.000 (0/244, ALFA)
dup(A)₁₃=0.000 (0/244, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MTDH : 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	244	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	164	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	58	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	56	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	10	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	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	244	(A)₂₁=1.000	del(A)₁₃=0.000, del(A)₁₀=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, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000, dup(A)₁₁=0.000, dup(A)₁₃=0.000
Allele Frequency Aggregator	European	Sub	164	(A)₂₁=1.000	del(A)₁₃=0.000, del(A)₁₀=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, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000, dup(A)₁₁=0.000, dup(A)₁₃=0.000
Allele Frequency Aggregator	African	Sub	58	(A)₂₁=1.00	del(A)₁₃=0.00, del(A)₁₀=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, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00, dup(A)₁₁=0.00, dup(A)₁₃=0.00
Allele Frequency Aggregator	Latin American 2	Sub	10	(A)₂₁=1.0	del(A)₁₃=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0, dup(A)₇=0.0, dup(A)₈=0.0, dup(A)₉=0.0, dup(A)₁₀=0.0, dup(A)₁₁=0.0, dup(A)₁₃=0.0
Allele Frequency Aggregator	Other	Sub	8	(A)₂₁=1.0	del(A)₁₃=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0, dup(A)₇=0.0, dup(A)₈=0.0, dup(A)₉=0.0, dup(A)₁₀=0.0, dup(A)₁₁=0.0, dup(A)₁₃=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₂₁=1.0	del(A)₁₃=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0, dup(A)₇=0.0, dup(A)₈=0.0, dup(A)₉=0.0, dup(A)₁₀=0.0, dup(A)₁₁=0.0, dup(A)₁₃=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₁=0	del(A)₁₃=0, del(A)₁₀=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0, dup(A)₈=0, dup(A)₉=0, dup(A)₁₀=0, dup(A)₁₁=0, dup(A)₁₃=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₁=0	del(A)₁₃=0, del(A)₁₀=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0, dup(A)₈=0, dup(A)₉=0, dup(A)₁₀=0, dup(A)₁₁=0, dup(A)₁₃=0

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 8	NC_000008.11:g.97677013_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677016_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677018_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677019_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677020_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677021_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677022_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677023_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677024_97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677025del
GRCh38.p14 chr 8	NC_000008.11:g.97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677024_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677023_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677022_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677021_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677020_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677019_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677018_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677017_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677016_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677015_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677014_97677025dup
GRCh38.p14 chr 8	NC_000008.11:g.97677013_97677025dup
GRCh37.p13 chr 8	NC_000008.10:g.98689241_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689244_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689246_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689247_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689248_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689249_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689250_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689251_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689252_98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689253del
GRCh37.p13 chr 8	NC_000008.10:g.98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689252_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689251_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689250_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689249_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689248_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689247_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689246_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689245_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689244_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689243_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689242_98689253dup
GRCh37.p13 chr 8	NC_000008.10:g.98689241_98689253dup

Gene: MTDH, metadherin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MTDH transcript variant 2	NM_001363136.1:c.484-9655… NM_001363136.1:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant 3	NM_001363137.1:c.484-9655… NM_001363137.1:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant 4	NM_001363138.1:c.484-9655… NM_001363138.1:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant 5	NM_001363139.1:c.484-9655… NM_001363139.1:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant 1	NM_178812.4:c.484-9655_48… NM_178812.4:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant X1	XM_011517368.3:c.484-9655… XM_011517368.3:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant X2	XM_011517369.4:c.484-9655… XM_011517369.4:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant X3	XM_011517370.4:c.484-9655… XM_011517370.4:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant X5	XM_017013968.3:c.484-9655… XM_017013968.3:c.484-9655_484-9643del	N/A	Intron Variant
MTDH transcript variant X4	XM_047422418.1:c.484-9655… XM_047422418.1:c.484-9655_484-9643del	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	(A)₂₁=	del(A)₁₃	del(A)₁₀	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃
GRCh38.p14 chr 8	NC_000008.11:g.97677005_97677025=	NC_000008.11:g.97677013_97677025del	NC_000008.11:g.97677016_97677025del	NC_000008.11:g.97677018_97677025del	NC_000008.11:g.97677019_97677025del	NC_000008.11:g.97677020_97677025del	NC_000008.11:g.97677021_97677025del	NC_000008.11:g.97677022_97677025del	NC_000008.11:g.97677023_97677025del	NC_000008.11:g.97677024_97677025del	NC_000008.11:g.97677025del	NC_000008.11:g.97677025dup	NC_000008.11:g.97677024_97677025dup	NC_000008.11:g.97677023_97677025dup	NC_000008.11:g.97677022_97677025dup	NC_000008.11:g.97677021_97677025dup	NC_000008.11:g.97677020_97677025dup	NC_000008.11:g.97677019_97677025dup	NC_000008.11:g.97677018_97677025dup	NC_000008.11:g.97677017_97677025dup	NC_000008.11:g.97677016_97677025dup	NC_000008.11:g.97677015_97677025dup	NC_000008.11:g.97677014_97677025dup	NC_000008.11:g.97677013_97677025dup
GRCh37.p13 chr 8	NC_000008.10:g.98689233_98689253=	NC_000008.10:g.98689241_98689253del	NC_000008.10:g.98689244_98689253del	NC_000008.10:g.98689246_98689253del	NC_000008.10:g.98689247_98689253del	NC_000008.10:g.98689248_98689253del	NC_000008.10:g.98689249_98689253del	NC_000008.10:g.98689250_98689253del	NC_000008.10:g.98689251_98689253del	NC_000008.10:g.98689252_98689253del	NC_000008.10:g.98689253del	NC_000008.10:g.98689253dup	NC_000008.10:g.98689252_98689253dup	NC_000008.10:g.98689251_98689253dup	NC_000008.10:g.98689250_98689253dup	NC_000008.10:g.98689249_98689253dup	NC_000008.10:g.98689248_98689253dup	NC_000008.10:g.98689247_98689253dup	NC_000008.10:g.98689246_98689253dup	NC_000008.10:g.98689245_98689253dup	NC_000008.10:g.98689244_98689253dup	NC_000008.10:g.98689243_98689253dup	NC_000008.10:g.98689242_98689253dup	NC_000008.10:g.98689241_98689253dup
MTDH transcript variant 2	NM_001363136.1:c.484-9663=	NM_001363136.1:c.484-9655_484-9643del	NM_001363136.1:c.484-9652_484-9643del	NM_001363136.1:c.484-9650_484-9643del	NM_001363136.1:c.484-9649_484-9643del	NM_001363136.1:c.484-9648_484-9643del	NM_001363136.1:c.484-9647_484-9643del	NM_001363136.1:c.484-9646_484-9643del	NM_001363136.1:c.484-9645_484-9643del	NM_001363136.1:c.484-9644_484-9643del	NM_001363136.1:c.484-9643del	NM_001363136.1:c.484-9643dup	NM_001363136.1:c.484-9644_484-9643dup	NM_001363136.1:c.484-9645_484-9643dup	NM_001363136.1:c.484-9646_484-9643dup	NM_001363136.1:c.484-9647_484-9643dup	NM_001363136.1:c.484-9648_484-9643dup	NM_001363136.1:c.484-9649_484-9643dup	NM_001363136.1:c.484-9650_484-9643dup	NM_001363136.1:c.484-9651_484-9643dup	NM_001363136.1:c.484-9652_484-9643dup	NM_001363136.1:c.484-9653_484-9643dup	NM_001363136.1:c.484-9654_484-9643dup	NM_001363136.1:c.484-9655_484-9643dup
MTDH transcript variant 3	NM_001363137.1:c.484-9663=	NM_001363137.1:c.484-9655_484-9643del	NM_001363137.1:c.484-9652_484-9643del	NM_001363137.1:c.484-9650_484-9643del	NM_001363137.1:c.484-9649_484-9643del	NM_001363137.1:c.484-9648_484-9643del	NM_001363137.1:c.484-9647_484-9643del	NM_001363137.1:c.484-9646_484-9643del	NM_001363137.1:c.484-9645_484-9643del	NM_001363137.1:c.484-9644_484-9643del	NM_001363137.1:c.484-9643del	NM_001363137.1:c.484-9643dup	NM_001363137.1:c.484-9644_484-9643dup	NM_001363137.1:c.484-9645_484-9643dup	NM_001363137.1:c.484-9646_484-9643dup	NM_001363137.1:c.484-9647_484-9643dup	NM_001363137.1:c.484-9648_484-9643dup	NM_001363137.1:c.484-9649_484-9643dup	NM_001363137.1:c.484-9650_484-9643dup	NM_001363137.1:c.484-9651_484-9643dup	NM_001363137.1:c.484-9652_484-9643dup	NM_001363137.1:c.484-9653_484-9643dup	NM_001363137.1:c.484-9654_484-9643dup	NM_001363137.1:c.484-9655_484-9643dup
MTDH transcript variant 4	NM_001363138.1:c.484-9663=	NM_001363138.1:c.484-9655_484-9643del	NM_001363138.1:c.484-9652_484-9643del	NM_001363138.1:c.484-9650_484-9643del	NM_001363138.1:c.484-9649_484-9643del	NM_001363138.1:c.484-9648_484-9643del	NM_001363138.1:c.484-9647_484-9643del	NM_001363138.1:c.484-9646_484-9643del	NM_001363138.1:c.484-9645_484-9643del	NM_001363138.1:c.484-9644_484-9643del	NM_001363138.1:c.484-9643del	NM_001363138.1:c.484-9643dup	NM_001363138.1:c.484-9644_484-9643dup	NM_001363138.1:c.484-9645_484-9643dup	NM_001363138.1:c.484-9646_484-9643dup	NM_001363138.1:c.484-9647_484-9643dup	NM_001363138.1:c.484-9648_484-9643dup	NM_001363138.1:c.484-9649_484-9643dup	NM_001363138.1:c.484-9650_484-9643dup	NM_001363138.1:c.484-9651_484-9643dup	NM_001363138.1:c.484-9652_484-9643dup	NM_001363138.1:c.484-9653_484-9643dup	NM_001363138.1:c.484-9654_484-9643dup	NM_001363138.1:c.484-9655_484-9643dup
MTDH transcript variant 5	NM_001363139.1:c.484-9663=	NM_001363139.1:c.484-9655_484-9643del	NM_001363139.1:c.484-9652_484-9643del	NM_001363139.1:c.484-9650_484-9643del	NM_001363139.1:c.484-9649_484-9643del	NM_001363139.1:c.484-9648_484-9643del	NM_001363139.1:c.484-9647_484-9643del	NM_001363139.1:c.484-9646_484-9643del	NM_001363139.1:c.484-9645_484-9643del	NM_001363139.1:c.484-9644_484-9643del	NM_001363139.1:c.484-9643del	NM_001363139.1:c.484-9643dup	NM_001363139.1:c.484-9644_484-9643dup	NM_001363139.1:c.484-9645_484-9643dup	NM_001363139.1:c.484-9646_484-9643dup	NM_001363139.1:c.484-9647_484-9643dup	NM_001363139.1:c.484-9648_484-9643dup	NM_001363139.1:c.484-9649_484-9643dup	NM_001363139.1:c.484-9650_484-9643dup	NM_001363139.1:c.484-9651_484-9643dup	NM_001363139.1:c.484-9652_484-9643dup	NM_001363139.1:c.484-9653_484-9643dup	NM_001363139.1:c.484-9654_484-9643dup	NM_001363139.1:c.484-9655_484-9643dup
MTDH transcript	NM_178812.3:c.484-9663=	NM_178812.3:c.484-9655_484-9643del	NM_178812.3:c.484-9652_484-9643del	NM_178812.3:c.484-9650_484-9643del	NM_178812.3:c.484-9649_484-9643del	NM_178812.3:c.484-9648_484-9643del	NM_178812.3:c.484-9647_484-9643del	NM_178812.3:c.484-9646_484-9643del	NM_178812.3:c.484-9645_484-9643del	NM_178812.3:c.484-9644_484-9643del	NM_178812.3:c.484-9643del	NM_178812.3:c.484-9643dup	NM_178812.3:c.484-9644_484-9643dup	NM_178812.3:c.484-9645_484-9643dup	NM_178812.3:c.484-9646_484-9643dup	NM_178812.3:c.484-9647_484-9643dup	NM_178812.3:c.484-9648_484-9643dup	NM_178812.3:c.484-9649_484-9643dup	NM_178812.3:c.484-9650_484-9643dup	NM_178812.3:c.484-9651_484-9643dup	NM_178812.3:c.484-9652_484-9643dup	NM_178812.3:c.484-9653_484-9643dup	NM_178812.3:c.484-9654_484-9643dup	NM_178812.3:c.484-9655_484-9643dup
MTDH transcript variant 1	NM_178812.4:c.484-9663=	NM_178812.4:c.484-9655_484-9643del	NM_178812.4:c.484-9652_484-9643del	NM_178812.4:c.484-9650_484-9643del	NM_178812.4:c.484-9649_484-9643del	NM_178812.4:c.484-9648_484-9643del	NM_178812.4:c.484-9647_484-9643del	NM_178812.4:c.484-9646_484-9643del	NM_178812.4:c.484-9645_484-9643del	NM_178812.4:c.484-9644_484-9643del	NM_178812.4:c.484-9643del	NM_178812.4:c.484-9643dup	NM_178812.4:c.484-9644_484-9643dup	NM_178812.4:c.484-9645_484-9643dup	NM_178812.4:c.484-9646_484-9643dup	NM_178812.4:c.484-9647_484-9643dup	NM_178812.4:c.484-9648_484-9643dup	NM_178812.4:c.484-9649_484-9643dup	NM_178812.4:c.484-9650_484-9643dup	NM_178812.4:c.484-9651_484-9643dup	NM_178812.4:c.484-9652_484-9643dup	NM_178812.4:c.484-9653_484-9643dup	NM_178812.4:c.484-9654_484-9643dup	NM_178812.4:c.484-9655_484-9643dup
MTDH transcript variant X1	XM_005251098.1:c.484-9663=	XM_005251098.1:c.484-9655_484-9643del	XM_005251098.1:c.484-9652_484-9643del	XM_005251098.1:c.484-9650_484-9643del	XM_005251098.1:c.484-9649_484-9643del	XM_005251098.1:c.484-9648_484-9643del	XM_005251098.1:c.484-9647_484-9643del	XM_005251098.1:c.484-9646_484-9643del	XM_005251098.1:c.484-9645_484-9643del	XM_005251098.1:c.484-9644_484-9643del	XM_005251098.1:c.484-9643del	XM_005251098.1:c.484-9643dup	XM_005251098.1:c.484-9644_484-9643dup	XM_005251098.1:c.484-9645_484-9643dup	XM_005251098.1:c.484-9646_484-9643dup	XM_005251098.1:c.484-9647_484-9643dup	XM_005251098.1:c.484-9648_484-9643dup	XM_005251098.1:c.484-9649_484-9643dup	XM_005251098.1:c.484-9650_484-9643dup	XM_005251098.1:c.484-9651_484-9643dup	XM_005251098.1:c.484-9652_484-9643dup	XM_005251098.1:c.484-9653_484-9643dup	XM_005251098.1:c.484-9654_484-9643dup	XM_005251098.1:c.484-9655_484-9643dup
MTDH transcript variant X2	XM_005251099.1:c.484-9663=	XM_005251099.1:c.484-9655_484-9643del	XM_005251099.1:c.484-9652_484-9643del	XM_005251099.1:c.484-9650_484-9643del	XM_005251099.1:c.484-9649_484-9643del	XM_005251099.1:c.484-9648_484-9643del	XM_005251099.1:c.484-9647_484-9643del	XM_005251099.1:c.484-9646_484-9643del	XM_005251099.1:c.484-9645_484-9643del	XM_005251099.1:c.484-9644_484-9643del	XM_005251099.1:c.484-9643del	XM_005251099.1:c.484-9643dup	XM_005251099.1:c.484-9644_484-9643dup	XM_005251099.1:c.484-9645_484-9643dup	XM_005251099.1:c.484-9646_484-9643dup	XM_005251099.1:c.484-9647_484-9643dup	XM_005251099.1:c.484-9648_484-9643dup	XM_005251099.1:c.484-9649_484-9643dup	XM_005251099.1:c.484-9650_484-9643dup	XM_005251099.1:c.484-9651_484-9643dup	XM_005251099.1:c.484-9652_484-9643dup	XM_005251099.1:c.484-9653_484-9643dup	XM_005251099.1:c.484-9654_484-9643dup	XM_005251099.1:c.484-9655_484-9643dup
MTDH transcript variant X3	XM_005251100.1:c.484-9663=	XM_005251100.1:c.484-9655_484-9643del	XM_005251100.1:c.484-9652_484-9643del	XM_005251100.1:c.484-9650_484-9643del	XM_005251100.1:c.484-9649_484-9643del	XM_005251100.1:c.484-9648_484-9643del	XM_005251100.1:c.484-9647_484-9643del	XM_005251100.1:c.484-9646_484-9643del	XM_005251100.1:c.484-9645_484-9643del	XM_005251100.1:c.484-9644_484-9643del	XM_005251100.1:c.484-9643del	XM_005251100.1:c.484-9643dup	XM_005251100.1:c.484-9644_484-9643dup	XM_005251100.1:c.484-9645_484-9643dup	XM_005251100.1:c.484-9646_484-9643dup	XM_005251100.1:c.484-9647_484-9643dup	XM_005251100.1:c.484-9648_484-9643dup	XM_005251100.1:c.484-9649_484-9643dup	XM_005251100.1:c.484-9650_484-9643dup	XM_005251100.1:c.484-9651_484-9643dup	XM_005251100.1:c.484-9652_484-9643dup	XM_005251100.1:c.484-9653_484-9643dup	XM_005251100.1:c.484-9654_484-9643dup	XM_005251100.1:c.484-9655_484-9643dup
MTDH transcript variant X1	XM_011517368.3:c.484-9663=	XM_011517368.3:c.484-9655_484-9643del	XM_011517368.3:c.484-9652_484-9643del	XM_011517368.3:c.484-9650_484-9643del	XM_011517368.3:c.484-9649_484-9643del	XM_011517368.3:c.484-9648_484-9643del	XM_011517368.3:c.484-9647_484-9643del	XM_011517368.3:c.484-9646_484-9643del	XM_011517368.3:c.484-9645_484-9643del	XM_011517368.3:c.484-9644_484-9643del	XM_011517368.3:c.484-9643del	XM_011517368.3:c.484-9643dup	XM_011517368.3:c.484-9644_484-9643dup	XM_011517368.3:c.484-9645_484-9643dup	XM_011517368.3:c.484-9646_484-9643dup	XM_011517368.3:c.484-9647_484-9643dup	XM_011517368.3:c.484-9648_484-9643dup	XM_011517368.3:c.484-9649_484-9643dup	XM_011517368.3:c.484-9650_484-9643dup	XM_011517368.3:c.484-9651_484-9643dup	XM_011517368.3:c.484-9652_484-9643dup	XM_011517368.3:c.484-9653_484-9643dup	XM_011517368.3:c.484-9654_484-9643dup	XM_011517368.3:c.484-9655_484-9643dup
MTDH transcript variant X2	XM_011517369.4:c.484-9663=	XM_011517369.4:c.484-9655_484-9643del	XM_011517369.4:c.484-9652_484-9643del	XM_011517369.4:c.484-9650_484-9643del	XM_011517369.4:c.484-9649_484-9643del	XM_011517369.4:c.484-9648_484-9643del	XM_011517369.4:c.484-9647_484-9643del	XM_011517369.4:c.484-9646_484-9643del	XM_011517369.4:c.484-9645_484-9643del	XM_011517369.4:c.484-9644_484-9643del	XM_011517369.4:c.484-9643del	XM_011517369.4:c.484-9643dup	XM_011517369.4:c.484-9644_484-9643dup	XM_011517369.4:c.484-9645_484-9643dup	XM_011517369.4:c.484-9646_484-9643dup	XM_011517369.4:c.484-9647_484-9643dup	XM_011517369.4:c.484-9648_484-9643dup	XM_011517369.4:c.484-9649_484-9643dup	XM_011517369.4:c.484-9650_484-9643dup	XM_011517369.4:c.484-9651_484-9643dup	XM_011517369.4:c.484-9652_484-9643dup	XM_011517369.4:c.484-9653_484-9643dup	XM_011517369.4:c.484-9654_484-9643dup	XM_011517369.4:c.484-9655_484-9643dup
MTDH transcript variant X3	XM_011517370.4:c.484-9663=	XM_011517370.4:c.484-9655_484-9643del	XM_011517370.4:c.484-9652_484-9643del	XM_011517370.4:c.484-9650_484-9643del	XM_011517370.4:c.484-9649_484-9643del	XM_011517370.4:c.484-9648_484-9643del	XM_011517370.4:c.484-9647_484-9643del	XM_011517370.4:c.484-9646_484-9643del	XM_011517370.4:c.484-9645_484-9643del	XM_011517370.4:c.484-9644_484-9643del	XM_011517370.4:c.484-9643del	XM_011517370.4:c.484-9643dup	XM_011517370.4:c.484-9644_484-9643dup	XM_011517370.4:c.484-9645_484-9643dup	XM_011517370.4:c.484-9646_484-9643dup	XM_011517370.4:c.484-9647_484-9643dup	XM_011517370.4:c.484-9648_484-9643dup	XM_011517370.4:c.484-9649_484-9643dup	XM_011517370.4:c.484-9650_484-9643dup	XM_011517370.4:c.484-9651_484-9643dup	XM_011517370.4:c.484-9652_484-9643dup	XM_011517370.4:c.484-9653_484-9643dup	XM_011517370.4:c.484-9654_484-9643dup	XM_011517370.4:c.484-9655_484-9643dup
MTDH transcript variant X5	XM_017013968.3:c.484-9663=	XM_017013968.3:c.484-9655_484-9643del	XM_017013968.3:c.484-9652_484-9643del	XM_017013968.3:c.484-9650_484-9643del	XM_017013968.3:c.484-9649_484-9643del	XM_017013968.3:c.484-9648_484-9643del	XM_017013968.3:c.484-9647_484-9643del	XM_017013968.3:c.484-9646_484-9643del	XM_017013968.3:c.484-9645_484-9643del	XM_017013968.3:c.484-9644_484-9643del	XM_017013968.3:c.484-9643del	XM_017013968.3:c.484-9643dup	XM_017013968.3:c.484-9644_484-9643dup	XM_017013968.3:c.484-9645_484-9643dup	XM_017013968.3:c.484-9646_484-9643dup	XM_017013968.3:c.484-9647_484-9643dup	XM_017013968.3:c.484-9648_484-9643dup	XM_017013968.3:c.484-9649_484-9643dup	XM_017013968.3:c.484-9650_484-9643dup	XM_017013968.3:c.484-9651_484-9643dup	XM_017013968.3:c.484-9652_484-9643dup	XM_017013968.3:c.484-9653_484-9643dup	XM_017013968.3:c.484-9654_484-9643dup	XM_017013968.3:c.484-9655_484-9643dup
MTDH transcript variant X4	XM_047422418.1:c.484-9663=	XM_047422418.1:c.484-9655_484-9643del	XM_047422418.1:c.484-9652_484-9643del	XM_047422418.1:c.484-9650_484-9643del	XM_047422418.1:c.484-9649_484-9643del	XM_047422418.1:c.484-9648_484-9643del	XM_047422418.1:c.484-9647_484-9643del	XM_047422418.1:c.484-9646_484-9643del	XM_047422418.1:c.484-9645_484-9643del	XM_047422418.1:c.484-9644_484-9643del	XM_047422418.1:c.484-9643del	XM_047422418.1:c.484-9643dup	XM_047422418.1:c.484-9644_484-9643dup	XM_047422418.1:c.484-9645_484-9643dup	XM_047422418.1:c.484-9646_484-9643dup	XM_047422418.1:c.484-9647_484-9643dup	XM_047422418.1:c.484-9648_484-9643dup	XM_047422418.1:c.484-9649_484-9643dup	XM_047422418.1:c.484-9650_484-9643dup	XM_047422418.1:c.484-9651_484-9643dup	XM_047422418.1:c.484-9652_484-9643dup	XM_047422418.1:c.484-9653_484-9643dup	XM_047422418.1:c.484-9654_484-9643dup	XM_047422418.1:c.484-9655_484-9643dup

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#.

53 SubSNP, 38 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80998178	Dec 14, 2007 (129)
2	HUMANGENOME_JCVI	ss95499774	Feb 06, 2009 (130)
3	SWEGEN	ss3003673465	Nov 08, 2017 (151)
4	EVA_DECODE	ss3722610189	Jul 13, 2019 (153)
5	EVA_DECODE	ss3722610190	Jul 13, 2019 (153)
6	EVA_DECODE	ss3722610191	Jul 13, 2019 (153)
7	EVA_DECODE	ss3722610192	Jul 13, 2019 (153)
8	EVA	ss3831311693	Apr 26, 2020 (154)
9	KOGIC	ss3964453737	Apr 26, 2020 (154)
10	KOGIC	ss3964453738	Apr 26, 2020 (154)
11	KOGIC	ss3964453739	Apr 26, 2020 (154)
12	KOGIC	ss3964453740	Apr 26, 2020 (154)
13	KOGIC	ss3964453741	Apr 26, 2020 (154)
14	KOGIC	ss3964453742	Apr 26, 2020 (154)
15	GNOMAD	ss4189837464	Apr 26, 2021 (155)
16	GNOMAD	ss4189837465	Apr 26, 2021 (155)
17	GNOMAD	ss4189837466	Apr 26, 2021 (155)
18	GNOMAD	ss4189837467	Apr 26, 2021 (155)
19	GNOMAD	ss4189837468	Apr 26, 2021 (155)
20	GNOMAD	ss4189837469	Apr 26, 2021 (155)
21	GNOMAD	ss4189837470	Apr 26, 2021 (155)
22	GNOMAD	ss4189837471	Apr 26, 2021 (155)
23	GNOMAD	ss4189837472	Apr 26, 2021 (155)
24	GNOMAD	ss4189837473	Apr 26, 2021 (155)
25	GNOMAD	ss4189837475	Apr 26, 2021 (155)
26	GNOMAD	ss4189837476	Apr 26, 2021 (155)
27	GNOMAD	ss4189837477	Apr 26, 2021 (155)
28	GNOMAD	ss4189837478	Apr 26, 2021 (155)
29	GNOMAD	ss4189837479	Apr 26, 2021 (155)
30	GNOMAD	ss4189837480	Apr 26, 2021 (155)
31	GNOMAD	ss4189837481	Apr 26, 2021 (155)
32	GNOMAD	ss4189837482	Apr 26, 2021 (155)
33	GNOMAD	ss4189837483	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5190080560	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5190080561	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5190080562	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5190080563	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5190080564	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5190080565	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5278226546	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5278226547	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5278226548	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5474675954	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5732543789	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5732543790	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5732543791	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5732543792	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5732543793	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5732543794	Oct 16, 2022 (156)
50	EVA	ss5830947599	Oct 16, 2022 (156)
51	EVA	ss5830947600	Oct 16, 2022 (156)
52	EVA	ss5830947601	Oct 16, 2022 (156)
53	EVA	ss5856491105	Oct 16, 2022 (156)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 305135737 (NC_000008.11:97677004::A 16/22032) Row 305135738 (NC_000008.11:97677004::AA 3/22040) Row 305135739 (NC_000008.11:97677004::AAAA 1075/22028)...	-	Apr 26, 2021 (155)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 20831738 (NC_000008.11:97677004::AAAAAA 465/1546) Row 20831739 (NC_000008.11:97677004::AAAAAAA 349/1546) Row 20831740 (NC_000008.11:97677004::AAAAAAAA 165/1546)...	-	Apr 26, 2020 (154)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 20831738 (NC_000008.11:97677004::AAAAAA 465/1546) Row 20831739 (NC_000008.11:97677004::AAAAAAA 349/1546) Row 20831740 (NC_000008.11:97677004::AAAAAAAA 165/1546)...	-	Apr 26, 2020 (154)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 20831738 (NC_000008.11:97677004::AAAAAA 465/1546) Row 20831739 (NC_000008.11:97677004::AAAAAAA 349/1546) Row 20831740 (NC_000008.11:97677004::AAAAAAAA 165/1546)...	-	Apr 26, 2020 (154)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 20831738 (NC_000008.11:97677004::AAAAAA 465/1546) Row 20831739 (NC_000008.11:97677004::AAAAAAA 349/1546) Row 20831740 (NC_000008.11:97677004::AAAAAAAA 165/1546)...	-	Apr 26, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 20831738 (NC_000008.11:97677004::AAAAAA 465/1546) Row 20831739 (NC_000008.11:97677004::AAAAAAA 349/1546) Row 20831740 (NC_000008.11:97677004::AAAAAAAA 165/1546)...	-	Apr 26, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 20831738 (NC_000008.11:97677004::AAAAAA 465/1546) Row 20831739 (NC_000008.11:97677004::AAAAAAA 349/1546) Row 20831740 (NC_000008.11:97677004::AAAAAAAA 165/1546)...	-	Apr 26, 2020 (154)
79	8.3KJPN Submission ignored due to conflicting rows: Row 48049867 (NC_000008.10:98689232::AAAAAA 4268/14000) Row 48049868 (NC_000008.10:98689232::AAAAAAA 3501/14000) Row 48049869 (NC_000008.10:98689232::AAAAA 135/14000)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 48049867 (NC_000008.10:98689232::AAAAAA 4268/14000) Row 48049868 (NC_000008.10:98689232::AAAAAAA 3501/14000) Row 48049869 (NC_000008.10:98689232::AAAAA 135/14000)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 48049867 (NC_000008.10:98689232::AAAAAA 4268/14000) Row 48049868 (NC_000008.10:98689232::AAAAAAA 3501/14000) Row 48049869 (NC_000008.10:98689232::AAAAA 135/14000)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 48049867 (NC_000008.10:98689232::AAAAAA 4268/14000) Row 48049868 (NC_000008.10:98689232::AAAAAAA 3501/14000) Row 48049869 (NC_000008.10:98689232::AAAAA 135/14000)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 48049867 (NC_000008.10:98689232::AAAAAA 4268/14000) Row 48049868 (NC_000008.10:98689232::AAAAAAA 3501/14000) Row 48049869 (NC_000008.10:98689232::AAAAA 135/14000)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 48049867 (NC_000008.10:98689232::AAAAAA 4268/14000) Row 48049868 (NC_000008.10:98689232::AAAAAAA 3501/14000) Row 48049869 (NC_000008.10:98689232::AAAAA 135/14000)...	-	Apr 26, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 66380893 (NC_000008.11:97677004::AAAAAAA 5014/19668) Row 66380894 (NC_000008.11:97677004::AAAAAAAAA 1719/19668) Row 66380895 (NC_000008.11:97677004::AAAAAA 5966/19668)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 66380893 (NC_000008.11:97677004::AAAAAAA 5014/19668) Row 66380894 (NC_000008.11:97677004::AAAAAAAAA 1719/19668) Row 66380895 (NC_000008.11:97677004::AAAAAA 5966/19668)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 66380893 (NC_000008.11:97677004::AAAAAAA 5014/19668) Row 66380894 (NC_000008.11:97677004::AAAAAAAAA 1719/19668) Row 66380895 (NC_000008.11:97677004::AAAAAA 5966/19668)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 66380893 (NC_000008.11:97677004::AAAAAAA 5014/19668) Row 66380894 (NC_000008.11:97677004::AAAAAAAAA 1719/19668) Row 66380895 (NC_000008.11:97677004::AAAAAA 5966/19668)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 66380893 (NC_000008.11:97677004::AAAAAAA 5014/19668) Row 66380894 (NC_000008.11:97677004::AAAAAAAAA 1719/19668) Row 66380895 (NC_000008.11:97677004::AAAAAA 5966/19668)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 66380893 (NC_000008.11:97677004::AAAAAAA 5014/19668) Row 66380894 (NC_000008.11:97677004::AAAAAAAAA 1719/19668) Row 66380895 (NC_000008.11:97677004::AAAAAA 5966/19668)...	-	Oct 16, 2022 (156)
91	ALFA	NC_000008.11 - 97677005	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
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss4189837483	NC_000008.11:97677004:AAAAAAAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3003673465	NC_000008.10:98689232:AAAAAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4189837482	NC_000008.11:97677004:AAAAAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4189837481	NC_000008.11:97677004:AAAAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4189837480	NC_000008.11:97677004:AAAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4189837479	NC_000008.11:97677004:AAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4189837478	NC_000008.11:97677004:AAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4189837477	NC_000008.11:97677004:AAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4189837476, ss5278226548, ss5474675954	NC_000008.11:97677004:AA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4189837475	NC_000008.11:97677004:A:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4189837464	NC_000008.11:97677004::A	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5830947599	NC_000008.10:98689232::AA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
ss4189837465	NC_000008.11:97677004::AA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5830947600	NC_000008.10:98689232::AAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
ss3722610192, ss4189837466, ss5278226546	NC_000008.11:97677004::AAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5190080562	NC_000008.10:98689232::AAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3722610191, ss3964453741, ss4189837467, ss5732543793	NC_000008.11:97677004::AAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5190080560	NC_000008.10:98689232::AAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3722610190, ss3964453737, ss4189837468, ss5732543791	NC_000008.11:97677004::AAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss80998178	NT_008046.16:11962802::AAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3831311693, ss5190080561	NC_000008.10:98689232::AAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3722610189, ss3964453738, ss4189837469, ss5732543789	NC_000008.11:97677004::AAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95499774	NT_008046.16:11962802::AAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5190080564, ss5830947601	NC_000008.10:98689232::AAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3964453739, ss4189837470, ss5278226547, ss5732543792, ss5856491105	NC_000008.11:97677004::AAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5190080563	NC_000008.10:98689232::AAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3964453740, ss4189837471, ss5732543790	NC_000008.11:97677004::AAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5190080565	NC_000008.10:98689232::AAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3964453742, ss4189837472, ss5732543794	NC_000008.11:97677004::AAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4189837473	NC_000008.11:97677004::AAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10859783123	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3570376333	NC_000008.11:97677004::AAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
ss3570376341	NC_000008.11:97677004::AAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss3570376342	NC_000008.11:97677004::AAAAAAAAAAA… NC_000008.11:97677004::AAAAAAAAAAAAA	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss3570376352	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAA:	NC_000008.11:97677004:AAAAAAAAAAAA… NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

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

No publications for rs57430782

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

rs57430782