Name: rs1181396046
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.

rs1181396046

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:45537397-45537422 (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)₁₆ / del(A)₁₃ / del(A)₁₁ / d…
del(A)₁₆ / del(A)₁₃ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃ / dup(A)₁₄ / dup(A)₁₅ / dup(A)₁₆ / dup(A)₁₇ / dup(A)₁₈ / dup(A)₂₀ / dup(A)₂₁ / dup(A)₂₂ / dup(A)₂₃ / dup(A)₂₅ / ins(A)₂₇ / ins(A)₂₈ / ins(A)₂₉ / ins(A)₃₀ / ins(A)₃₃
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₆=0.0000 (0/3164, ALFA)
del(A)₁₃=0.0000 (0/3164, ALFA)
del(A)₁₁=0.0000 (0/3164, ALFA) (+ 15 more)
del(A)₁₀=0.0000 (0/3164, ALFA)
del(A)₉=0.0000 (0/3164, ALFA)
del(A)₈=0.0000 (0/3164, ALFA)
del(A)₇=0.0000 (0/3164, ALFA)
del(A)₆=0.0000 (0/3164, ALFA)
del(A)₅=0.0000 (0/3164, ALFA)
del(A)₄=0.0000 (0/3164, ALFA)
delAAA=0.0000 (0/3164, ALFA)
delAA=0.0000 (0/3164, ALFA)
delA=0.0000 (0/3164, ALFA)
dupA=0.0000 (0/3164, ALFA)
dupAA=0.0000 (0/3164, ALFA)
dupAAA=0.0000 (0/3164, ALFA)
dup(A)₄=0.0000 (0/3164, ALFA)
dup(A)₅=0.0000 (0/3164, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OPA3 : 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	HWEP
Total	Global	3164	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1966	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	736	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	26	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	710	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	38	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	34	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	38	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	226	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	26	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	134	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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	3164	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	1966	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	736	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	226	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	134	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	38	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	38	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	26	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 19	NC_000019.10:g.45537407_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537410_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537412_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537413_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537414_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537415_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537416_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537417_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537418_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537419_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537420_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537421_45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537422del
GRCh38.p14 chr 19	NC_000019.10:g.45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537421_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537420_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537419_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537418_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537417_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537416_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537415_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537414_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537413_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537412_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537411_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537410_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537409_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537408_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537407_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537406_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537405_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537403_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537402_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537401_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537400_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537398_45537422dup
GRCh38.p14 chr 19	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 19	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19	NC_000019.9:g.46040665_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040668_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040670_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040671_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040672_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040673_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040674_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040675_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040676_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040677_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040678_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040679_46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040680del
GRCh37.p13 chr 19	NC_000019.9:g.46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040679_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040678_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040677_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040676_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040675_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040674_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040673_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040672_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040671_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040670_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040669_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040668_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040667_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040666_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040665_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040664_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040663_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040661_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040660_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040659_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040658_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040656_46040680dup
GRCh37.p13 chr 19	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
OPA3 RefSeqGene	NG_013332.1:g.52453_52468del
OPA3 RefSeqGene	NG_013332.1:g.52456_52468del
OPA3 RefSeqGene	NG_013332.1:g.52458_52468del
OPA3 RefSeqGene	NG_013332.1:g.52459_52468del
OPA3 RefSeqGene	NG_013332.1:g.52460_52468del
OPA3 RefSeqGene	NG_013332.1:g.52461_52468del
OPA3 RefSeqGene	NG_013332.1:g.52462_52468del
OPA3 RefSeqGene	NG_013332.1:g.52463_52468del
OPA3 RefSeqGene	NG_013332.1:g.52464_52468del
OPA3 RefSeqGene	NG_013332.1:g.52465_52468del
OPA3 RefSeqGene	NG_013332.1:g.52466_52468del
OPA3 RefSeqGene	NG_013332.1:g.52467_52468del
OPA3 RefSeqGene	NG_013332.1:g.52468del
OPA3 RefSeqGene	NG_013332.1:g.52468dup
OPA3 RefSeqGene	NG_013332.1:g.52467_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52466_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52465_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52464_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52463_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52462_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52461_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52460_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52459_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52458_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52457_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52456_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52455_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52454_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52453_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52452_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52451_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52449_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52448_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52447_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52446_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52444_52468dup
OPA3 RefSeqGene	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTT
OPA3 RefSeqGene	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
OPA3 RefSeqGene	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
OPA3 RefSeqGene	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
OPA3 RefSeqGene	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: OPA3, outer mitochondrial membrane lipid metabolism regulator OPA3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OPA3 transcript variant 1	NM_001017989.3:c.143-7956… NM_001017989.3:c.143-7956_143-7941del	N/A	Intron Variant
OPA3 transcript variant 2	NM_025136.4:c.	N/A	Genic Downstream Transcript Variant
OPA3 transcript variant X1	XM_006723403.5:c.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₆=	del(A)₁₆	del(A)₁₃	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃	dup(A)₁₄	dup(A)₁₅	dup(A)₁₆	dup(A)₁₇	dup(A)₁₈	dup(A)₂₀	dup(A)₂₁	dup(A)₂₂	dup(A)₂₃	dup(A)₂₅	ins(A)₂₇	ins(A)₂₈	ins(A)₂₉	ins(A)₃₀	ins(A)₃₃
GRCh38.p14 chr 19	NC_000019.10:g.45537397_45537422=	NC_000019.10:g.45537407_45537422del	NC_000019.10:g.45537410_45537422del	NC_000019.10:g.45537412_45537422del	NC_000019.10:g.45537413_45537422del	NC_000019.10:g.45537414_45537422del	NC_000019.10:g.45537415_45537422del	NC_000019.10:g.45537416_45537422del	NC_000019.10:g.45537417_45537422del	NC_000019.10:g.45537418_45537422del	NC_000019.10:g.45537419_45537422del	NC_000019.10:g.45537420_45537422del	NC_000019.10:g.45537421_45537422del	NC_000019.10:g.45537422del	NC_000019.10:g.45537422dup	NC_000019.10:g.45537421_45537422dup	NC_000019.10:g.45537420_45537422dup	NC_000019.10:g.45537419_45537422dup	NC_000019.10:g.45537418_45537422dup	NC_000019.10:g.45537417_45537422dup	NC_000019.10:g.45537416_45537422dup	NC_000019.10:g.45537415_45537422dup	NC_000019.10:g.45537414_45537422dup	NC_000019.10:g.45537413_45537422dup	NC_000019.10:g.45537412_45537422dup	NC_000019.10:g.45537411_45537422dup	NC_000019.10:g.45537410_45537422dup	NC_000019.10:g.45537409_45537422dup	NC_000019.10:g.45537408_45537422dup	NC_000019.10:g.45537407_45537422dup	NC_000019.10:g.45537406_45537422dup	NC_000019.10:g.45537405_45537422dup	NC_000019.10:g.45537403_45537422dup	NC_000019.10:g.45537402_45537422dup	NC_000019.10:g.45537401_45537422dup	NC_000019.10:g.45537400_45537422dup	NC_000019.10:g.45537398_45537422dup	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:g.45537422_45537423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 19	NC_000019.9:g.46040655_46040680=	NC_000019.9:g.46040665_46040680del	NC_000019.9:g.46040668_46040680del	NC_000019.9:g.46040670_46040680del	NC_000019.9:g.46040671_46040680del	NC_000019.9:g.46040672_46040680del	NC_000019.9:g.46040673_46040680del	NC_000019.9:g.46040674_46040680del	NC_000019.9:g.46040675_46040680del	NC_000019.9:g.46040676_46040680del	NC_000019.9:g.46040677_46040680del	NC_000019.9:g.46040678_46040680del	NC_000019.9:g.46040679_46040680del	NC_000019.9:g.46040680del	NC_000019.9:g.46040680dup	NC_000019.9:g.46040679_46040680dup	NC_000019.9:g.46040678_46040680dup	NC_000019.9:g.46040677_46040680dup	NC_000019.9:g.46040676_46040680dup	NC_000019.9:g.46040675_46040680dup	NC_000019.9:g.46040674_46040680dup	NC_000019.9:g.46040673_46040680dup	NC_000019.9:g.46040672_46040680dup	NC_000019.9:g.46040671_46040680dup	NC_000019.9:g.46040670_46040680dup	NC_000019.9:g.46040669_46040680dup	NC_000019.9:g.46040668_46040680dup	NC_000019.9:g.46040667_46040680dup	NC_000019.9:g.46040666_46040680dup	NC_000019.9:g.46040665_46040680dup	NC_000019.9:g.46040664_46040680dup	NC_000019.9:g.46040663_46040680dup	NC_000019.9:g.46040661_46040680dup	NC_000019.9:g.46040660_46040680dup	NC_000019.9:g.46040659_46040680dup	NC_000019.9:g.46040658_46040680dup	NC_000019.9:g.46040656_46040680dup	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.9:g.46040680_46040681insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
OPA3 RefSeqGene	NG_013332.1:g.52443_52468=	NG_013332.1:g.52453_52468del	NG_013332.1:g.52456_52468del	NG_013332.1:g.52458_52468del	NG_013332.1:g.52459_52468del	NG_013332.1:g.52460_52468del	NG_013332.1:g.52461_52468del	NG_013332.1:g.52462_52468del	NG_013332.1:g.52463_52468del	NG_013332.1:g.52464_52468del	NG_013332.1:g.52465_52468del	NG_013332.1:g.52466_52468del	NG_013332.1:g.52467_52468del	NG_013332.1:g.52468del	NG_013332.1:g.52468dup	NG_013332.1:g.52467_52468dup	NG_013332.1:g.52466_52468dup	NG_013332.1:g.52465_52468dup	NG_013332.1:g.52464_52468dup	NG_013332.1:g.52463_52468dup	NG_013332.1:g.52462_52468dup	NG_013332.1:g.52461_52468dup	NG_013332.1:g.52460_52468dup	NG_013332.1:g.52459_52468dup	NG_013332.1:g.52458_52468dup	NG_013332.1:g.52457_52468dup	NG_013332.1:g.52456_52468dup	NG_013332.1:g.52455_52468dup	NG_013332.1:g.52454_52468dup	NG_013332.1:g.52453_52468dup	NG_013332.1:g.52452_52468dup	NG_013332.1:g.52451_52468dup	NG_013332.1:g.52449_52468dup	NG_013332.1:g.52448_52468dup	NG_013332.1:g.52447_52468dup	NG_013332.1:g.52446_52468dup	NG_013332.1:g.52444_52468dup	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_013332.1:g.52468_52469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
OPA3 transcript variant 1	NM_001017989.2:c.143-7941=	NM_001017989.2:c.143-7956_143-7941del	NM_001017989.2:c.143-7953_143-7941del	NM_001017989.2:c.143-7951_143-7941del	NM_001017989.2:c.143-7950_143-7941del	NM_001017989.2:c.143-7949_143-7941del	NM_001017989.2:c.143-7948_143-7941del	NM_001017989.2:c.143-7947_143-7941del	NM_001017989.2:c.143-7946_143-7941del	NM_001017989.2:c.143-7945_143-7941del	NM_001017989.2:c.143-7944_143-7941del	NM_001017989.2:c.143-7943_143-7941del	NM_001017989.2:c.143-7942_143-7941del	NM_001017989.2:c.143-7941del	NM_001017989.2:c.143-7941dup	NM_001017989.2:c.143-7942_143-7941dup	NM_001017989.2:c.143-7943_143-7941dup	NM_001017989.2:c.143-7944_143-7941dup	NM_001017989.2:c.143-7945_143-7941dup	NM_001017989.2:c.143-7946_143-7941dup	NM_001017989.2:c.143-7947_143-7941dup	NM_001017989.2:c.143-7948_143-7941dup	NM_001017989.2:c.143-7949_143-7941dup	NM_001017989.2:c.143-7950_143-7941dup	NM_001017989.2:c.143-7951_143-7941dup	NM_001017989.2:c.143-7952_143-7941dup	NM_001017989.2:c.143-7953_143-7941dup	NM_001017989.2:c.143-7954_143-7941dup	NM_001017989.2:c.143-7955_143-7941dup	NM_001017989.2:c.143-7956_143-7941dup	NM_001017989.2:c.143-7957_143-7941dup	NM_001017989.2:c.143-7958_143-7941dup	NM_001017989.2:c.143-7960_143-7941dup	NM_001017989.2:c.143-7961_143-7941dup	NM_001017989.2:c.143-7962_143-7941dup	NM_001017989.2:c.143-7963_143-7941dup	NM_001017989.2:c.143-7965_143-7941dup	NM_001017989.2:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.2:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.2:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.2:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.2:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
OPA3 transcript variant 1	NM_001017989.3:c.143-7941=	NM_001017989.3:c.143-7956_143-7941del	NM_001017989.3:c.143-7953_143-7941del	NM_001017989.3:c.143-7951_143-7941del	NM_001017989.3:c.143-7950_143-7941del	NM_001017989.3:c.143-7949_143-7941del	NM_001017989.3:c.143-7948_143-7941del	NM_001017989.3:c.143-7947_143-7941del	NM_001017989.3:c.143-7946_143-7941del	NM_001017989.3:c.143-7945_143-7941del	NM_001017989.3:c.143-7944_143-7941del	NM_001017989.3:c.143-7943_143-7941del	NM_001017989.3:c.143-7942_143-7941del	NM_001017989.3:c.143-7941del	NM_001017989.3:c.143-7941dup	NM_001017989.3:c.143-7942_143-7941dup	NM_001017989.3:c.143-7943_143-7941dup	NM_001017989.3:c.143-7944_143-7941dup	NM_001017989.3:c.143-7945_143-7941dup	NM_001017989.3:c.143-7946_143-7941dup	NM_001017989.3:c.143-7947_143-7941dup	NM_001017989.3:c.143-7948_143-7941dup	NM_001017989.3:c.143-7949_143-7941dup	NM_001017989.3:c.143-7950_143-7941dup	NM_001017989.3:c.143-7951_143-7941dup	NM_001017989.3:c.143-7952_143-7941dup	NM_001017989.3:c.143-7953_143-7941dup	NM_001017989.3:c.143-7954_143-7941dup	NM_001017989.3:c.143-7955_143-7941dup	NM_001017989.3:c.143-7956_143-7941dup	NM_001017989.3:c.143-7957_143-7941dup	NM_001017989.3:c.143-7958_143-7941dup	NM_001017989.3:c.143-7960_143-7941dup	NM_001017989.3:c.143-7961_143-7941dup	NM_001017989.3:c.143-7962_143-7941dup	NM_001017989.3:c.143-7963_143-7941dup	NM_001017989.3:c.143-7965_143-7941dup	NM_001017989.3:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.3:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.3:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.3:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001017989.3:c.143-7941_143-7940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

65 SubSNP, 53 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95729893	Oct 12, 2018 (152)
2	SWEGEN	ss3017549274	Nov 08, 2017 (151)
3	SWEGEN	ss3017549275	Nov 08, 2017 (151)
4	SWEGEN	ss3017549276	Nov 08, 2017 (151)
5	SWEGEN	ss3017549277	Nov 08, 2017 (151)
6	EVA_DECODE	ss3702855738	Jul 13, 2019 (153)
7	EVA_DECODE	ss3702855739	Jul 13, 2019 (153)
8	EVA_DECODE	ss3702855740	Jul 13, 2019 (153)
9	EVA_DECODE	ss3702855741	Jul 13, 2019 (153)
10	EVA	ss3835483541	Apr 27, 2020 (154)
11	KOGIC	ss3981448921	Apr 27, 2020 (154)
12	KOGIC	ss3981448922	Apr 27, 2020 (154)
13	KOGIC	ss3981448923	Apr 27, 2020 (154)
14	KOGIC	ss3981448924	Apr 27, 2020 (154)
15	GNOMAD	ss4332028432	Apr 26, 2021 (155)
16	GNOMAD	ss4332028433	Apr 26, 2021 (155)
17	GNOMAD	ss4332028434	Apr 26, 2021 (155)
18	GNOMAD	ss4332028435	Apr 26, 2021 (155)
19	GNOMAD	ss4332028436	Apr 26, 2021 (155)
20	GNOMAD	ss4332028437	Apr 26, 2021 (155)
21	GNOMAD	ss4332028438	Apr 26, 2021 (155)
22	GNOMAD	ss4332028439	Apr 26, 2021 (155)
23	GNOMAD	ss4332028440	Apr 26, 2021 (155)
24	GNOMAD	ss4332028441	Apr 26, 2021 (155)
25	GNOMAD	ss4332028442	Apr 26, 2021 (155)
26	GNOMAD	ss4332028443	Apr 26, 2021 (155)
27	GNOMAD	ss4332028444	Apr 26, 2021 (155)
28	GNOMAD	ss4332028445	Apr 26, 2021 (155)
29	GNOMAD	ss4332028446	Apr 26, 2021 (155)
30	GNOMAD	ss4332028447	Apr 26, 2021 (155)
31	GNOMAD	ss4332028448	Apr 26, 2021 (155)
32	GNOMAD	ss4332028449	Apr 26, 2021 (155)
33	GNOMAD	ss4332028450	Apr 26, 2021 (155)
34	GNOMAD	ss4332028451	Apr 26, 2021 (155)
35	GNOMAD	ss4332028452	Apr 26, 2021 (155)
36	GNOMAD	ss4332028453	Apr 26, 2021 (155)
37	GNOMAD	ss4332028454	Apr 26, 2021 (155)
38	GNOMAD	ss4332028455	Apr 26, 2021 (155)
39	GNOMAD	ss4332028456	Apr 26, 2021 (155)
40	GNOMAD	ss4332028457	Apr 26, 2021 (155)
41	GNOMAD	ss4332028458	Apr 26, 2021 (155)
42	GNOMAD	ss4332028459	Apr 26, 2021 (155)
43	GNOMAD	ss4332028460	Apr 26, 2021 (155)
44	GNOMAD	ss4332028461	Apr 26, 2021 (155)
45	GNOMAD	ss4332028462	Apr 26, 2021 (155)
46	GNOMAD	ss4332028463	Apr 26, 2021 (155)
47	GNOMAD	ss4332028464	Apr 26, 2021 (155)
48	GNOMAD	ss4332028465	Apr 26, 2021 (155)
49	GNOMAD	ss4332028466	Apr 26, 2021 (155)
50	GNOMAD	ss4332028467	Apr 26, 2021 (155)
51	GNOMAD	ss4332028468	Apr 26, 2021 (155)
52	GNOMAD	ss4332028469	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5227974802	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5227974803	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5227974804	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5227974805	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5227974806	Apr 26, 2021 (155)
58	HUGCELL_USP	ss5499907422	Oct 13, 2022 (156)
59	HUGCELL_USP	ss5499907423	Oct 13, 2022 (156)
60	HUGCELL_USP	ss5499907424	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5786678024	Oct 13, 2022 (156)
62	TOMMO_GENOMICS	ss5786678026	Oct 13, 2022 (156)
63	TOMMO_GENOMICS	ss5786678027	Oct 13, 2022 (156)
64	TOMMO_GENOMICS	ss5786678028	Oct 13, 2022 (156)
65	TOMMO_GENOMICS	ss5786678029	Oct 13, 2022 (156)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541339325 (NC_000019.10:45537396::A 16707/27612) Row 541339326 (NC_000019.10:45537396::AA 2299/27602) Row 541339327 (NC_000019.10:45537396::AAA 92/27686)...	-	Apr 26, 2021 (155)
104	Korean Genome Project Submission ignored due to conflicting rows: Row 37826922 (NC_000019.10:45537398::A 207/1038) Row 37826923 (NC_000019.10:45537397:A: 27/1038) Row 37826924 (NC_000019.10:45537398::AA 42/1038)...	-	Apr 27, 2020 (154)
105	Korean Genome Project Submission ignored due to conflicting rows: Row 37826922 (NC_000019.10:45537398::A 207/1038) Row 37826923 (NC_000019.10:45537397:A: 27/1038) Row 37826924 (NC_000019.10:45537398::AA 42/1038)...	-	Apr 27, 2020 (154)
106	Korean Genome Project Submission ignored due to conflicting rows: Row 37826922 (NC_000019.10:45537398::A 207/1038) Row 37826923 (NC_000019.10:45537397:A: 27/1038) Row 37826924 (NC_000019.10:45537398::AA 42/1038)...	-	Apr 27, 2020 (154)
107	Korean Genome Project Submission ignored due to conflicting rows: Row 37826922 (NC_000019.10:45537398::A 207/1038) Row 37826923 (NC_000019.10:45537397:A: 27/1038) Row 37826924 (NC_000019.10:45537398::AA 42/1038)...	-	Apr 27, 2020 (154)
108	8.3KJPN Submission ignored due to conflicting rows: Row 85944109 (NC_000019.9:46040654::A 2638/10346) Row 85944110 (NC_000019.9:46040654::AA 44/10346) Row 85944111 (NC_000019.9:46040654:AAAA: 9/10346)...	-	Apr 26, 2021 (155)
109	8.3KJPN Submission ignored due to conflicting rows: Row 85944109 (NC_000019.9:46040654::A 2638/10346) Row 85944110 (NC_000019.9:46040654::AA 44/10346) Row 85944111 (NC_000019.9:46040654:AAAA: 9/10346)...	-	Apr 26, 2021 (155)
110	8.3KJPN Submission ignored due to conflicting rows: Row 85944109 (NC_000019.9:46040654::A 2638/10346) Row 85944110 (NC_000019.9:46040654::AA 44/10346) Row 85944111 (NC_000019.9:46040654:AAAA: 9/10346)...	-	Apr 26, 2021 (155)
111	8.3KJPN Submission ignored due to conflicting rows: Row 85944109 (NC_000019.9:46040654::A 2638/10346) Row 85944110 (NC_000019.9:46040654::AA 44/10346) Row 85944111 (NC_000019.9:46040654:AAAA: 9/10346)...	-	Apr 26, 2021 (155)
112	8.3KJPN Submission ignored due to conflicting rows: Row 85944109 (NC_000019.9:46040654::A 2638/10346) Row 85944110 (NC_000019.9:46040654::AA 44/10346) Row 85944111 (NC_000019.9:46040654:AAAA: 9/10346)...	-	Apr 26, 2021 (155)
113	14KJPN Submission ignored due to conflicting rows: Row 120515128 (NC_000019.10:45537396::A 9471/23468) Row 120515130 (NC_000019.10:45537396::AA 143/23468) Row 120515131 (NC_000019.10:45537396:A: 217/23468)...	-	Oct 13, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 120515128 (NC_000019.10:45537396::A 9471/23468) Row 120515130 (NC_000019.10:45537396::AA 143/23468) Row 120515131 (NC_000019.10:45537396:A: 217/23468)...	-	Oct 13, 2022 (156)
115	14KJPN Submission ignored due to conflicting rows: Row 120515128 (NC_000019.10:45537396::A 9471/23468) Row 120515130 (NC_000019.10:45537396::AA 143/23468) Row 120515131 (NC_000019.10:45537396:A: 217/23468)...	-	Oct 13, 2022 (156)
116	14KJPN Submission ignored due to conflicting rows: Row 120515128 (NC_000019.10:45537396::A 9471/23468) Row 120515130 (NC_000019.10:45537396::AA 143/23468) Row 120515131 (NC_000019.10:45537396:A: 217/23468)...	-	Oct 13, 2022 (156)
117	14KJPN Submission ignored due to conflicting rows: Row 120515128 (NC_000019.10:45537396::A 9471/23468) Row 120515130 (NC_000019.10:45537396::AA 143/23468) Row 120515131 (NC_000019.10:45537396:A: 217/23468)...	-	Oct 13, 2022 (156)
118	ALFA	NC_000019.10 - 45537397	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
ss4332028469	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4332028468	NC_000019.10:45537396:AAAAAAAAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4332028467	NC_000019.10:45537396:AAAAAAAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4332028466	NC_000019.10:45537396:AAAAAAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4332028465	NC_000019.10:45537396:AAAAAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4332028464	NC_000019.10:45537396:AAAAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5227974804	NC_000019.9:46040654:AAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702855741, ss4332028463, ss5786678028	NC_000019.10:45537396:AAAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028462	NC_000019.10:45537396:AAA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3981448924, ss4332028461, ss5786678029	NC_000019.10:45537396:AA:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5227974805	NC_000019.9:46040654:A:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028460, ss5499907423, ss5786678027	NC_000019.10:45537396:A:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3981448922	NC_000019.10:45537397:A:	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3017549274, ss5227974802	NC_000019.9:46040654::A	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028432, ss5499907422, ss5786678024	NC_000019.10:45537396::A	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3981448921	NC_000019.10:45537398::A	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702855740	NC_000019.10:45537400::A	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95729893	NT_011109.16:18308898::A	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3017549275, ss5227974803	NC_000019.9:46040654::AA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028433, ss5786678026	NC_000019.10:45537396::AA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3981448923	NC_000019.10:45537398::AA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702855739	NC_000019.10:45537400::AA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3835483541	NC_000019.9:46040654::AAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028434, ss5499907424	NC_000019.10:45537396::AAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702855738	NC_000019.10:45537400::AAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028435	NC_000019.10:45537396::AAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028436	NC_000019.10:45537396::AAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5312223995	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028437	NC_000019.10:45537396::AAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028438	NC_000019.10:45537396::AAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3017549276	NC_000019.9:46040654::AAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028439	NC_000019.10:45537396::AAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3017549277, ss5227974806	NC_000019.9:46040654::AAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028440	NC_000019.10:45537396::AAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028441	NC_000019.10:45537396::AAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028442	NC_000019.10:45537396::AAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028443	NC_000019.10:45537396::AAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028444	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028445	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028446	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028447	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028448	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028449	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028450	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028451	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028452	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028453	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028454	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028455	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028456	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028457	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028458	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332028459	NC_000019.10:45537396::AAAAAAAAAAA… NC_000019.10:45537396::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45537396:AAAAAAAAAAAA… NC_000019.10:45537396:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs1181396046

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

rs1181396046