Name: rs398042523
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.

rs398042523

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:99161252-99161292 (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)₂₉ / del(A)₂₆ / del(A)₂₅ / d…
del(A)₂₉ / del(A)₂₆ / del(A)₂₅ / del(A)₂₄ / del(A)₂₃ / del(A)₂₂ / del(A)₂₁ / del(A)₂₀ / del(A)₁₉ / del(A)₁₈ / del(A)₁₇ / del(A)₁₆ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / 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 / delA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₂₆=0.0000 (0/7218, ALFA)
del(A)₂₅=0.0000 (0/7218, ALFA)
del(A)₂₄=0.0000 (0/7218, ALFA) (+ 22 more)
del(A)₂₃=0.0000 (0/7218, ALFA)
del(A)₂₂=0.0000 (0/7218, ALFA)
del(A)₂₁=0.0000 (0/7218, ALFA)
del(A)₂₀=0.0000 (0/7218, ALFA)
del(A)₁₉=0.0000 (0/7218, ALFA)
del(A)₁₈=0.0000 (0/7218, ALFA)
del(A)₁₇=0.0000 (0/7218, ALFA)
del(A)₁₆=0.0000 (0/7218, ALFA)
del(A)₁₅=0.0000 (0/7218, ALFA)
del(A)₁₄=0.0000 (0/7218, ALFA)
del(A)₁₃=0.0000 (0/7218, ALFA)
del(A)₁₂=0.0000 (0/7218, ALFA)
del(A)₁₁=0.0000 (0/7218, ALFA)
del(A)₁₀=0.0000 (0/7218, ALFA)
del(A)₉=0.0000 (0/7218, ALFA)
del(A)₈=0.0000 (0/7218, ALFA)
del(A)₇=0.0000 (0/7218, ALFA)
del(A)₆=0.0000 (0/7218, ALFA)
del(A)₅=0.0000 (0/7218, ALFA)
del(A)₄=0.0000 (0/7218, ALFA)
delAAA=0.0000 (0/7218, ALFA)
delA=0.0000 (0/7218, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LIPT1 : Intron Variant
MITD1 : 500B Downstream 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	HWEP
Total	Global	7218	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4314	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2102	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	88	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	2014	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	52	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	40	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	78	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	354	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	42	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	276	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	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	7218	(A)₄₁=1.0000	del(A)₂₆=0.0000, del(A)₂₅=0.0000, del(A)₂₄=0.0000, del(A)₂₃=0.0000, del(A)₂₂=0.0000, del(A)₂₁=0.0000, del(A)₂₀=0.0000, del(A)₁₉=0.0000, del(A)₁₈=0.0000, del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, 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, delA=0.0000
Allele Frequency Aggregator	European	Sub	4314	(A)₄₁=1.0000	del(A)₂₆=0.0000, del(A)₂₅=0.0000, del(A)₂₄=0.0000, del(A)₂₃=0.0000, del(A)₂₂=0.0000, del(A)₂₁=0.0000, del(A)₂₀=0.0000, del(A)₁₉=0.0000, del(A)₁₈=0.0000, del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, 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, delA=0.0000
Allele Frequency Aggregator	African	Sub	2102	(A)₄₁=1.0000	del(A)₂₆=0.0000, del(A)₂₅=0.0000, del(A)₂₄=0.0000, del(A)₂₃=0.0000, del(A)₂₂=0.0000, del(A)₂₁=0.0000, del(A)₂₀=0.0000, del(A)₁₉=0.0000, del(A)₁₈=0.0000, del(A)₁₇=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, 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, delA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	354	(A)₄₁=1.000	del(A)₂₆=0.000, del(A)₂₅=0.000, del(A)₂₄=0.000, del(A)₂₃=0.000, del(A)₂₂=0.000, del(A)₂₁=0.000, del(A)₂₀=0.000, del(A)₁₉=0.000, del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, 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, delA=0.000
Allele Frequency Aggregator	Other	Sub	276	(A)₄₁=1.000	del(A)₂₆=0.000, del(A)₂₅=0.000, del(A)₂₄=0.000, del(A)₂₃=0.000, del(A)₂₂=0.000, del(A)₂₁=0.000, del(A)₂₀=0.000, del(A)₁₉=0.000, del(A)₁₈=0.000, del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, 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, delA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	78	(A)₄₁=1.00	del(A)₂₆=0.00, del(A)₂₅=0.00, del(A)₂₄=0.00, del(A)₂₃=0.00, del(A)₂₂=0.00, del(A)₂₁=0.00, del(A)₂₀=0.00, del(A)₁₉=0.00, del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, 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, delA=0.00
Allele Frequency Aggregator	Asian	Sub	52	(A)₄₁=1.00	del(A)₂₆=0.00, del(A)₂₅=0.00, del(A)₂₄=0.00, del(A)₂₃=0.00, del(A)₂₂=0.00, del(A)₂₁=0.00, del(A)₂₀=0.00, del(A)₁₉=0.00, del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, 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, delA=0.00
Allele Frequency Aggregator	South Asian	Sub	42	(A)₄₁=1.00	del(A)₂₆=0.00, del(A)₂₅=0.00, del(A)₂₄=0.00, del(A)₂₃=0.00, del(A)₂₂=0.00, del(A)₂₁=0.00, del(A)₂₀=0.00, del(A)₁₉=0.00, del(A)₁₈=0.00, del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, 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, delA=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 2	NC_000002.12:g.99161264_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161267_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161268_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161269_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161270_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161271_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161272_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161273_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161274_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161275_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161276_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161277_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161278_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161279_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161280_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161281_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161282_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161283_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161284_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161285_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161286_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161287_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161288_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161289_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161290_99161292del
GRCh38.p14 chr 2	NC_000002.12:g.99161292del
GRCh37.p13 chr 2	NC_000002.11:g.99777727_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777730_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777731_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777732_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777733_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777734_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777735_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777736_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777737_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777738_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777739_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777740_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777741_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777742_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777743_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777744_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777745_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777746_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777747_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777748_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777749_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777750_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777751_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777752_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777753_99777755del
GRCh37.p13 chr 2	NC_000002.11:g.99777755del
LIPT1 RefSeqGene	NG_050665.1:g.11310_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11313_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11314_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11315_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11316_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11317_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11318_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11319_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11320_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11321_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11322_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11323_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11324_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11325_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11326_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11327_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11328_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11329_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11330_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11331_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11332_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11333_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11334_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11335_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11336_11338del
LIPT1 RefSeqGene	NG_050665.1:g.11338del

Gene: LIPT1, lipoyltransferase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LIPT1 transcript variant 6	NM_001204830.2:c.-1-693_-… NM_001204830.2:c.-1-693_-1-665del	N/A	Intron Variant
LIPT1 transcript variant 1	NM_015929.4:c.-1-693_-1-6… NM_015929.4:c.-1-693_-1-665del	N/A	Intron Variant
LIPT1 transcript variant 3	NM_145197.3:c.-1-693_-1-6… NM_145197.3:c.-1-693_-1-665del	N/A	Intron Variant
LIPT1 transcript variant 4	NM_145198.3:c.-1-693_-1-6… NM_145198.3:c.-1-693_-1-665del	N/A	Intron Variant
LIPT1 transcript variant 5	NM_145199.3:c.-1-693_-1-6… NM_145199.3:c.-1-693_-1-665del	N/A	Intron Variant
LIPT1 transcript variant 7	NR_037935.2:n.	N/A	Intron Variant
LIPT1 transcript variant 2	NR_037936.2:n.	N/A	Intron Variant

Gene: MITD1, microtubule interacting and trafficking domain containing 1 (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MITD1 transcript variant 2	NM_001320417.2:c.	N/A	N/A
MITD1 transcript variant 3	NM_001320418.2:c.	N/A	N/A
MITD1 transcript variant 4	NM_001320419.2:c.	N/A	N/A
MITD1 transcript variant 1	NM_138798.3:c.	N/A	N/A
MITD1 transcript variant X1	XM_011510581.4:c.	N/A	Downstream Transcript Variant
MITD1 transcript variant X3	XM_017003314.3:c.	N/A	Downstream Transcript Variant
MITD1 transcript variant X4	XM_017003315.3:c.	N/A	N/A
MITD1 transcript variant X2	XM_047443276.1:c.	N/A	N/A
MITD1 transcript variant X5	XM_047443277.1:c.	N/A	N/A

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)₄₁=	del(A)₂₉	del(A)₂₆	del(A)₂₅	del(A)₂₄	del(A)₂₃	del(A)₂₂	del(A)₂₁	del(A)₂₀	del(A)₁₉	del(A)₁₈	del(A)₁₇	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	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	delA
GRCh38.p14 chr 2	NC_000002.12:g.99161252_99161292=	NC_000002.12:g.99161264_99161292del	NC_000002.12:g.99161267_99161292del	NC_000002.12:g.99161268_99161292del	NC_000002.12:g.99161269_99161292del	NC_000002.12:g.99161270_99161292del	NC_000002.12:g.99161271_99161292del	NC_000002.12:g.99161272_99161292del	NC_000002.12:g.99161273_99161292del	NC_000002.12:g.99161274_99161292del	NC_000002.12:g.99161275_99161292del	NC_000002.12:g.99161276_99161292del	NC_000002.12:g.99161277_99161292del	NC_000002.12:g.99161278_99161292del	NC_000002.12:g.99161279_99161292del	NC_000002.12:g.99161280_99161292del	NC_000002.12:g.99161281_99161292del	NC_000002.12:g.99161282_99161292del	NC_000002.12:g.99161283_99161292del	NC_000002.12:g.99161284_99161292del	NC_000002.12:g.99161285_99161292del	NC_000002.12:g.99161286_99161292del	NC_000002.12:g.99161287_99161292del	NC_000002.12:g.99161288_99161292del	NC_000002.12:g.99161289_99161292del	NC_000002.12:g.99161290_99161292del	NC_000002.12:g.99161292del
GRCh37.p13 chr 2	NC_000002.11:g.99777715_99777755=	NC_000002.11:g.99777727_99777755del	NC_000002.11:g.99777730_99777755del	NC_000002.11:g.99777731_99777755del	NC_000002.11:g.99777732_99777755del	NC_000002.11:g.99777733_99777755del	NC_000002.11:g.99777734_99777755del	NC_000002.11:g.99777735_99777755del	NC_000002.11:g.99777736_99777755del	NC_000002.11:g.99777737_99777755del	NC_000002.11:g.99777738_99777755del	NC_000002.11:g.99777739_99777755del	NC_000002.11:g.99777740_99777755del	NC_000002.11:g.99777741_99777755del	NC_000002.11:g.99777742_99777755del	NC_000002.11:g.99777743_99777755del	NC_000002.11:g.99777744_99777755del	NC_000002.11:g.99777745_99777755del	NC_000002.11:g.99777746_99777755del	NC_000002.11:g.99777747_99777755del	NC_000002.11:g.99777748_99777755del	NC_000002.11:g.99777749_99777755del	NC_000002.11:g.99777750_99777755del	NC_000002.11:g.99777751_99777755del	NC_000002.11:g.99777752_99777755del	NC_000002.11:g.99777753_99777755del	NC_000002.11:g.99777755del
LIPT1 RefSeqGene	NG_050665.1:g.11298_11338=	NG_050665.1:g.11310_11338del	NG_050665.1:g.11313_11338del	NG_050665.1:g.11314_11338del	NG_050665.1:g.11315_11338del	NG_050665.1:g.11316_11338del	NG_050665.1:g.11317_11338del	NG_050665.1:g.11318_11338del	NG_050665.1:g.11319_11338del	NG_050665.1:g.11320_11338del	NG_050665.1:g.11321_11338del	NG_050665.1:g.11322_11338del	NG_050665.1:g.11323_11338del	NG_050665.1:g.11324_11338del	NG_050665.1:g.11325_11338del	NG_050665.1:g.11326_11338del	NG_050665.1:g.11327_11338del	NG_050665.1:g.11328_11338del	NG_050665.1:g.11329_11338del	NG_050665.1:g.11330_11338del	NG_050665.1:g.11331_11338del	NG_050665.1:g.11332_11338del	NG_050665.1:g.11333_11338del	NG_050665.1:g.11334_11338del	NG_050665.1:g.11335_11338del	NG_050665.1:g.11336_11338del	NG_050665.1:g.11338del
LIPT1 transcript variant 6	NM_001204830.1:c.-1-705=	NM_001204830.1:c.-1-693_-1-665del	NM_001204830.1:c.-1-690_-1-665del	NM_001204830.1:c.-1-689_-1-665del	NM_001204830.1:c.-1-688_-1-665del	NM_001204830.1:c.-1-687_-1-665del	NM_001204830.1:c.-1-686_-1-665del	NM_001204830.1:c.-1-685_-1-665del	NM_001204830.1:c.-1-684_-1-665del	NM_001204830.1:c.-1-683_-1-665del	NM_001204830.1:c.-1-682_-1-665del	NM_001204830.1:c.-1-681_-1-665del	NM_001204830.1:c.-1-680_-1-665del	NM_001204830.1:c.-1-679_-1-665del	NM_001204830.1:c.-1-678_-1-665del	NM_001204830.1:c.-1-677_-1-665del	NM_001204830.1:c.-1-676_-1-665del	NM_001204830.1:c.-1-675_-1-665del	NM_001204830.1:c.-1-674_-1-665del	NM_001204830.1:c.-1-673_-1-665del	NM_001204830.1:c.-1-672_-1-665del	NM_001204830.1:c.-1-671_-1-665del	NM_001204830.1:c.-1-670_-1-665del	NM_001204830.1:c.-1-669_-1-665del	NM_001204830.1:c.-1-668_-1-665del	NM_001204830.1:c.-1-667_-1-665del	NM_001204830.1:c.-1-665del
LIPT1 transcript variant 6	NM_001204830.2:c.-1-705=	NM_001204830.2:c.-1-693_-1-665del	NM_001204830.2:c.-1-690_-1-665del	NM_001204830.2:c.-1-689_-1-665del	NM_001204830.2:c.-1-688_-1-665del	NM_001204830.2:c.-1-687_-1-665del	NM_001204830.2:c.-1-686_-1-665del	NM_001204830.2:c.-1-685_-1-665del	NM_001204830.2:c.-1-684_-1-665del	NM_001204830.2:c.-1-683_-1-665del	NM_001204830.2:c.-1-682_-1-665del	NM_001204830.2:c.-1-681_-1-665del	NM_001204830.2:c.-1-680_-1-665del	NM_001204830.2:c.-1-679_-1-665del	NM_001204830.2:c.-1-678_-1-665del	NM_001204830.2:c.-1-677_-1-665del	NM_001204830.2:c.-1-676_-1-665del	NM_001204830.2:c.-1-675_-1-665del	NM_001204830.2:c.-1-674_-1-665del	NM_001204830.2:c.-1-673_-1-665del	NM_001204830.2:c.-1-672_-1-665del	NM_001204830.2:c.-1-671_-1-665del	NM_001204830.2:c.-1-670_-1-665del	NM_001204830.2:c.-1-669_-1-665del	NM_001204830.2:c.-1-668_-1-665del	NM_001204830.2:c.-1-667_-1-665del	NM_001204830.2:c.-1-665del
LIPT1 transcript variant 1	NM_015929.3:c.-1-705=	NM_015929.3:c.-1-693_-1-665del	NM_015929.3:c.-1-690_-1-665del	NM_015929.3:c.-1-689_-1-665del	NM_015929.3:c.-1-688_-1-665del	NM_015929.3:c.-1-687_-1-665del	NM_015929.3:c.-1-686_-1-665del	NM_015929.3:c.-1-685_-1-665del	NM_015929.3:c.-1-684_-1-665del	NM_015929.3:c.-1-683_-1-665del	NM_015929.3:c.-1-682_-1-665del	NM_015929.3:c.-1-681_-1-665del	NM_015929.3:c.-1-680_-1-665del	NM_015929.3:c.-1-679_-1-665del	NM_015929.3:c.-1-678_-1-665del	NM_015929.3:c.-1-677_-1-665del	NM_015929.3:c.-1-676_-1-665del	NM_015929.3:c.-1-675_-1-665del	NM_015929.3:c.-1-674_-1-665del	NM_015929.3:c.-1-673_-1-665del	NM_015929.3:c.-1-672_-1-665del	NM_015929.3:c.-1-671_-1-665del	NM_015929.3:c.-1-670_-1-665del	NM_015929.3:c.-1-669_-1-665del	NM_015929.3:c.-1-668_-1-665del	NM_015929.3:c.-1-667_-1-665del	NM_015929.3:c.-1-665del
LIPT1 transcript variant 1	NM_015929.4:c.-1-705=	NM_015929.4:c.-1-693_-1-665del	NM_015929.4:c.-1-690_-1-665del	NM_015929.4:c.-1-689_-1-665del	NM_015929.4:c.-1-688_-1-665del	NM_015929.4:c.-1-687_-1-665del	NM_015929.4:c.-1-686_-1-665del	NM_015929.4:c.-1-685_-1-665del	NM_015929.4:c.-1-684_-1-665del	NM_015929.4:c.-1-683_-1-665del	NM_015929.4:c.-1-682_-1-665del	NM_015929.4:c.-1-681_-1-665del	NM_015929.4:c.-1-680_-1-665del	NM_015929.4:c.-1-679_-1-665del	NM_015929.4:c.-1-678_-1-665del	NM_015929.4:c.-1-677_-1-665del	NM_015929.4:c.-1-676_-1-665del	NM_015929.4:c.-1-675_-1-665del	NM_015929.4:c.-1-674_-1-665del	NM_015929.4:c.-1-673_-1-665del	NM_015929.4:c.-1-672_-1-665del	NM_015929.4:c.-1-671_-1-665del	NM_015929.4:c.-1-670_-1-665del	NM_015929.4:c.-1-669_-1-665del	NM_015929.4:c.-1-668_-1-665del	NM_015929.4:c.-1-667_-1-665del	NM_015929.4:c.-1-665del
LIPT1 transcript variant 3	NM_145197.2:c.-1-705=	NM_145197.2:c.-1-693_-1-665del	NM_145197.2:c.-1-690_-1-665del	NM_145197.2:c.-1-689_-1-665del	NM_145197.2:c.-1-688_-1-665del	NM_145197.2:c.-1-687_-1-665del	NM_145197.2:c.-1-686_-1-665del	NM_145197.2:c.-1-685_-1-665del	NM_145197.2:c.-1-684_-1-665del	NM_145197.2:c.-1-683_-1-665del	NM_145197.2:c.-1-682_-1-665del	NM_145197.2:c.-1-681_-1-665del	NM_145197.2:c.-1-680_-1-665del	NM_145197.2:c.-1-679_-1-665del	NM_145197.2:c.-1-678_-1-665del	NM_145197.2:c.-1-677_-1-665del	NM_145197.2:c.-1-676_-1-665del	NM_145197.2:c.-1-675_-1-665del	NM_145197.2:c.-1-674_-1-665del	NM_145197.2:c.-1-673_-1-665del	NM_145197.2:c.-1-672_-1-665del	NM_145197.2:c.-1-671_-1-665del	NM_145197.2:c.-1-670_-1-665del	NM_145197.2:c.-1-669_-1-665del	NM_145197.2:c.-1-668_-1-665del	NM_145197.2:c.-1-667_-1-665del	NM_145197.2:c.-1-665del
LIPT1 transcript variant 3	NM_145197.3:c.-1-705=	NM_145197.3:c.-1-693_-1-665del	NM_145197.3:c.-1-690_-1-665del	NM_145197.3:c.-1-689_-1-665del	NM_145197.3:c.-1-688_-1-665del	NM_145197.3:c.-1-687_-1-665del	NM_145197.3:c.-1-686_-1-665del	NM_145197.3:c.-1-685_-1-665del	NM_145197.3:c.-1-684_-1-665del	NM_145197.3:c.-1-683_-1-665del	NM_145197.3:c.-1-682_-1-665del	NM_145197.3:c.-1-681_-1-665del	NM_145197.3:c.-1-680_-1-665del	NM_145197.3:c.-1-679_-1-665del	NM_145197.3:c.-1-678_-1-665del	NM_145197.3:c.-1-677_-1-665del	NM_145197.3:c.-1-676_-1-665del	NM_145197.3:c.-1-675_-1-665del	NM_145197.3:c.-1-674_-1-665del	NM_145197.3:c.-1-673_-1-665del	NM_145197.3:c.-1-672_-1-665del	NM_145197.3:c.-1-671_-1-665del	NM_145197.3:c.-1-670_-1-665del	NM_145197.3:c.-1-669_-1-665del	NM_145197.3:c.-1-668_-1-665del	NM_145197.3:c.-1-667_-1-665del	NM_145197.3:c.-1-665del
LIPT1 transcript variant 4	NM_145198.2:c.-1-705=	NM_145198.2:c.-1-693_-1-665del	NM_145198.2:c.-1-690_-1-665del	NM_145198.2:c.-1-689_-1-665del	NM_145198.2:c.-1-688_-1-665del	NM_145198.2:c.-1-687_-1-665del	NM_145198.2:c.-1-686_-1-665del	NM_145198.2:c.-1-685_-1-665del	NM_145198.2:c.-1-684_-1-665del	NM_145198.2:c.-1-683_-1-665del	NM_145198.2:c.-1-682_-1-665del	NM_145198.2:c.-1-681_-1-665del	NM_145198.2:c.-1-680_-1-665del	NM_145198.2:c.-1-679_-1-665del	NM_145198.2:c.-1-678_-1-665del	NM_145198.2:c.-1-677_-1-665del	NM_145198.2:c.-1-676_-1-665del	NM_145198.2:c.-1-675_-1-665del	NM_145198.2:c.-1-674_-1-665del	NM_145198.2:c.-1-673_-1-665del	NM_145198.2:c.-1-672_-1-665del	NM_145198.2:c.-1-671_-1-665del	NM_145198.2:c.-1-670_-1-665del	NM_145198.2:c.-1-669_-1-665del	NM_145198.2:c.-1-668_-1-665del	NM_145198.2:c.-1-667_-1-665del	NM_145198.2:c.-1-665del
LIPT1 transcript variant 4	NM_145198.3:c.-1-705=	NM_145198.3:c.-1-693_-1-665del	NM_145198.3:c.-1-690_-1-665del	NM_145198.3:c.-1-689_-1-665del	NM_145198.3:c.-1-688_-1-665del	NM_145198.3:c.-1-687_-1-665del	NM_145198.3:c.-1-686_-1-665del	NM_145198.3:c.-1-685_-1-665del	NM_145198.3:c.-1-684_-1-665del	NM_145198.3:c.-1-683_-1-665del	NM_145198.3:c.-1-682_-1-665del	NM_145198.3:c.-1-681_-1-665del	NM_145198.3:c.-1-680_-1-665del	NM_145198.3:c.-1-679_-1-665del	NM_145198.3:c.-1-678_-1-665del	NM_145198.3:c.-1-677_-1-665del	NM_145198.3:c.-1-676_-1-665del	NM_145198.3:c.-1-675_-1-665del	NM_145198.3:c.-1-674_-1-665del	NM_145198.3:c.-1-673_-1-665del	NM_145198.3:c.-1-672_-1-665del	NM_145198.3:c.-1-671_-1-665del	NM_145198.3:c.-1-670_-1-665del	NM_145198.3:c.-1-669_-1-665del	NM_145198.3:c.-1-668_-1-665del	NM_145198.3:c.-1-667_-1-665del	NM_145198.3:c.-1-665del
LIPT1 transcript variant 5	NM_145199.2:c.-1-705=	NM_145199.2:c.-1-693_-1-665del	NM_145199.2:c.-1-690_-1-665del	NM_145199.2:c.-1-689_-1-665del	NM_145199.2:c.-1-688_-1-665del	NM_145199.2:c.-1-687_-1-665del	NM_145199.2:c.-1-686_-1-665del	NM_145199.2:c.-1-685_-1-665del	NM_145199.2:c.-1-684_-1-665del	NM_145199.2:c.-1-683_-1-665del	NM_145199.2:c.-1-682_-1-665del	NM_145199.2:c.-1-681_-1-665del	NM_145199.2:c.-1-680_-1-665del	NM_145199.2:c.-1-679_-1-665del	NM_145199.2:c.-1-678_-1-665del	NM_145199.2:c.-1-677_-1-665del	NM_145199.2:c.-1-676_-1-665del	NM_145199.2:c.-1-675_-1-665del	NM_145199.2:c.-1-674_-1-665del	NM_145199.2:c.-1-673_-1-665del	NM_145199.2:c.-1-672_-1-665del	NM_145199.2:c.-1-671_-1-665del	NM_145199.2:c.-1-670_-1-665del	NM_145199.2:c.-1-669_-1-665del	NM_145199.2:c.-1-668_-1-665del	NM_145199.2:c.-1-667_-1-665del	NM_145199.2:c.-1-665del
LIPT1 transcript variant 5	NM_145199.3:c.-1-705=	NM_145199.3:c.-1-693_-1-665del	NM_145199.3:c.-1-690_-1-665del	NM_145199.3:c.-1-689_-1-665del	NM_145199.3:c.-1-688_-1-665del	NM_145199.3:c.-1-687_-1-665del	NM_145199.3:c.-1-686_-1-665del	NM_145199.3:c.-1-685_-1-665del	NM_145199.3:c.-1-684_-1-665del	NM_145199.3:c.-1-683_-1-665del	NM_145199.3:c.-1-682_-1-665del	NM_145199.3:c.-1-681_-1-665del	NM_145199.3:c.-1-680_-1-665del	NM_145199.3:c.-1-679_-1-665del	NM_145199.3:c.-1-678_-1-665del	NM_145199.3:c.-1-677_-1-665del	NM_145199.3:c.-1-676_-1-665del	NM_145199.3:c.-1-675_-1-665del	NM_145199.3:c.-1-674_-1-665del	NM_145199.3:c.-1-673_-1-665del	NM_145199.3:c.-1-672_-1-665del	NM_145199.3:c.-1-671_-1-665del	NM_145199.3:c.-1-670_-1-665del	NM_145199.3:c.-1-669_-1-665del	NM_145199.3:c.-1-668_-1-665del	NM_145199.3:c.-1-667_-1-665del	NM_145199.3:c.-1-665del

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#.

28 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss96726857	Dec 05, 2013 (138)
2	SWEGEN	ss2990042542	Nov 08, 2017 (151)
3	MCHAISSO	ss3064799188	Nov 08, 2017 (151)
4	EVA_DECODE	ss3704467634	Jul 13, 2019 (153)
5	EVA_DECODE	ss3704467635	Jul 13, 2019 (153)
6	EVA_DECODE	ss3704467636	Jul 13, 2019 (153)
7	EVA_DECODE	ss3704467637	Jul 13, 2019 (153)
8	KOGIC	ss3948511053	Apr 25, 2020 (154)
9	KOGIC	ss3948511054	Apr 25, 2020 (154)
10	KOGIC	ss3948511055	Apr 25, 2020 (154)
11	KOGIC	ss3948511056	Apr 25, 2020 (154)
12	KOGIC	ss3948511057	Apr 25, 2020 (154)
13	GNOMAD	ss4046890630	Apr 27, 2021 (155)
14	GNOMAD	ss4046890631	Apr 27, 2021 (155)
15	GNOMAD	ss4046890632	Apr 27, 2021 (155)
16	GNOMAD	ss4046890633	Apr 27, 2021 (155)
17	TOMMO_GENOMICS	ss5152818385	Apr 27, 2021 (155)
18	TOMMO_GENOMICS	ss5152818386	Apr 27, 2021 (155)
19	TOMMO_GENOMICS	ss5152818387	Apr 27, 2021 (155)
20	TOMMO_GENOMICS	ss5152818388	Apr 27, 2021 (155)
21	TOMMO_GENOMICS	ss5152818389	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5152818390	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5682637393	Oct 12, 2022 (156)
24	TOMMO_GENOMICS	ss5682637394	Oct 12, 2022 (156)
25	TOMMO_GENOMICS	ss5682637395	Oct 12, 2022 (156)
26	TOMMO_GENOMICS	ss5682637396	Oct 12, 2022 (156)
27	TOMMO_GENOMICS	ss5682637397	Oct 12, 2022 (156)
28	TOMMO_GENOMICS	ss5682637398	Oct 12, 2022 (156)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67258526 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAA: 28/17578) Row 67258527 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAA: 2/17596) Row 67258528 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAA: 9/17588)...	-	Apr 27, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67258526 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAA: 28/17578) Row 67258527 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAA: 2/17596) Row 67258528 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAA: 9/17588)...	-	Apr 27, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67258526 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAA: 28/17578) Row 67258527 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAA: 2/17596) Row 67258528 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAA: 9/17588)...	-	Apr 27, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67258526 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAA: 28/17578) Row 67258527 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAA: 2/17596) Row 67258528 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAA: 9/17588)...	-	Apr 27, 2021 (155)
33	Korean Genome Project Submission ignored due to conflicting rows: Row 4889054 (NC_000002.12:99161260:AAAAAAAAAAAAA: 9/1258) Row 4889055 (NC_000002.12:99161252:AAAAAAAAAAAAAAAAAAAAA: 39/1258) Row 4889056 (NC_000002.12:99161253:AAAAAAAAAAAAAAAAAAAA: 48/1258)...	-	Apr 25, 2020 (154)
34	Korean Genome Project Submission ignored due to conflicting rows: Row 4889054 (NC_000002.12:99161260:AAAAAAAAAAAAA: 9/1258) Row 4889055 (NC_000002.12:99161252:AAAAAAAAAAAAAAAAAAAAA: 39/1258) Row 4889056 (NC_000002.12:99161253:AAAAAAAAAAAAAAAAAAAA: 48/1258)...	-	Apr 25, 2020 (154)
35	Korean Genome Project Submission ignored due to conflicting rows: Row 4889054 (NC_000002.12:99161260:AAAAAAAAAAAAA: 9/1258) Row 4889055 (NC_000002.12:99161252:AAAAAAAAAAAAAAAAAAAAA: 39/1258) Row 4889056 (NC_000002.12:99161253:AAAAAAAAAAAAAAAAAAAA: 48/1258)...	-	Apr 25, 2020 (154)
36	Korean Genome Project Submission ignored due to conflicting rows: Row 4889054 (NC_000002.12:99161260:AAAAAAAAAAAAA: 9/1258) Row 4889055 (NC_000002.12:99161252:AAAAAAAAAAAAAAAAAAAAA: 39/1258) Row 4889056 (NC_000002.12:99161253:AAAAAAAAAAAAAAAAAAAA: 48/1258)...	-	Apr 25, 2020 (154)
37	Korean Genome Project Submission ignored due to conflicting rows: Row 4889054 (NC_000002.12:99161260:AAAAAAAAAAAAA: 9/1258) Row 4889055 (NC_000002.12:99161252:AAAAAAAAAAAAAAAAAAAAA: 39/1258) Row 4889056 (NC_000002.12:99161253:AAAAAAAAAAAAAAAAAAAA: 48/1258)...	-	Apr 25, 2020 (154)
38	8.3KJPN Submission ignored due to conflicting rows: Row 10787692 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA: 114/13064) Row 10787693 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA: 72/13064) Row 10787694 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA: 440/13064)...	-	Apr 27, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 10787692 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA: 114/13064) Row 10787693 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA: 72/13064) Row 10787694 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA: 440/13064)...	-	Apr 27, 2021 (155)
40	8.3KJPN Submission ignored due to conflicting rows: Row 10787692 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA: 114/13064) Row 10787693 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA: 72/13064) Row 10787694 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA: 440/13064)...	-	Apr 27, 2021 (155)
41	8.3KJPN Submission ignored due to conflicting rows: Row 10787692 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA: 114/13064) Row 10787693 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA: 72/13064) Row 10787694 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA: 440/13064)...	-	Apr 27, 2021 (155)
42	8.3KJPN Submission ignored due to conflicting rows: Row 10787692 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA: 114/13064) Row 10787693 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA: 72/13064) Row 10787694 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA: 440/13064)...	-	Apr 27, 2021 (155)
43	8.3KJPN Submission ignored due to conflicting rows: Row 10787692 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA: 114/13064) Row 10787693 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA: 72/13064) Row 10787694 (NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA: 440/13064)...	-	Apr 27, 2021 (155)
44	14KJPN Submission ignored due to conflicting rows: Row 16474497 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA: 235/26962) Row 16474498 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA: 104/26962) Row 16474499 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA: 599/26962)...	-	Oct 12, 2022 (156)
45	14KJPN Submission ignored due to conflicting rows: Row 16474497 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA: 235/26962) Row 16474498 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA: 104/26962) Row 16474499 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA: 599/26962)...	-	Oct 12, 2022 (156)
46	14KJPN Submission ignored due to conflicting rows: Row 16474497 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA: 235/26962) Row 16474498 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA: 104/26962) Row 16474499 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA: 599/26962)...	-	Oct 12, 2022 (156)
47	14KJPN Submission ignored due to conflicting rows: Row 16474497 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA: 235/26962) Row 16474498 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA: 104/26962) Row 16474499 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA: 599/26962)...	-	Oct 12, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 16474497 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA: 235/26962) Row 16474498 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA: 104/26962) Row 16474499 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA: 599/26962)...	-	Oct 12, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 16474497 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA: 235/26962) Row 16474498 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA: 104/26962) Row 16474499 (NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA: 599/26962)...	-	Oct 12, 2022 (156)
50	ALFA	NC_000002.12 - 99161252	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3317029963	NC_000002.12:99161251:AAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss3317029964	NC_000002.12:99161251:AAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss3317029965	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs398042523

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

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4046890633	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4046890632	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4046890631	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4046890630	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss2990042542	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3704467637, ss3948511057	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5152818385	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5682637394	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3948511054	NC_000002.12:99161252:AAAAAAAAAAAA… NC_000002.12:99161252:AAAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5152818387	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5682637395	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3704467636, ss3948511055	NC_000002.12:99161253:AAAAAAAAAAAA… NC_000002.12:99161253:AAAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5152818386	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064799188, ss5682637393	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5152818388	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5682637396	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3704467635, ss3948511056	NC_000002.12:99161255:AAAAAAAAAAAA… NC_000002.12:99161255:AAAAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5152818389	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5682637397	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3704467634	NC_000002.12:99161257:AAAAAAAAAAAA… NC_000002.12:99161257:AAAAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5152818390	NC_000002.11:99777714:AAAAAAAAAAAA… NC_000002.11:99777714:AAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5682637398	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3948511053	NC_000002.12:99161260:AAAAAAAAAAAA… NC_000002.12:99161260:AAAAAAAAAAAAA:	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6204641294	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:99161251:AAAAAAAAAAAA… NC_000002.12:99161251:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs398042523