Name: rs539968042
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.

rs539968042

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:12339237-12339262 (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)₁₅ / del(A)₁₄ / del(A)₁₃ / d…
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 / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₇ / dup(A)₈ / dup(A)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.000083 (22/264690, TOPMED)
del(A)₁₅=0.0000 (0/1056, ALFA)
del(A)₁₄=0.0000 (0/1056, ALFA) (+ 18 more)
del(A)₁₃=0.0000 (0/1056, ALFA)
del(A)₁₂=0.0000 (0/1056, ALFA)
del(A)₁₁=0.0000 (0/1056, ALFA)
del(A)₁₀=0.0000 (0/1056, ALFA)
del(A)₉=0.0000 (0/1056, ALFA)
del(A)₈=0.0000 (0/1056, ALFA)
del(A)₇=0.0000 (0/1056, ALFA)
del(A)₆=0.0000 (0/1056, ALFA)
del(A)₅=0.0000 (0/1056, ALFA)
del(A)₄=0.0000 (0/1056, ALFA)
delAAA=0.0000 (0/1056, ALFA)
delAA=0.0000 (0/1056, ALFA)
delA=0.0000 (0/1056, ALFA)
dupA=0.0000 (0/1056, ALFA)
dupAA=0.0000 (0/1056, ALFA)
dupAAA=0.0000 (0/1056, ALFA)
dup(A)₄=0.0000 (0/1056, ALFA)
dup(A)₅=0.0000 (0/1056, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AFG3L2 : Intron Variant
LOC107985154 : 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	1056	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, 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	682	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, 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	Sub	234	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, 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	2	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, 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
African American	Sub	232	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, 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	12	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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	8	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, 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
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, 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	12	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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	70	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, 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
Other	Sub	44	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, 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

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
TopMed	Global	Study-wide	264690	(A)₂₆=0.999917	del(A)₁₀=0.000083
Allele Frequency Aggregator	Total	Global	1056	(A)₂₆=1.0000	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, 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	682	(A)₂₆=1.000	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, 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	African	Sub	234	(A)₂₆=1.000	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, 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	70	(A)₂₆=1.00	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, 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	Other	Sub	44	(A)₂₆=1.00	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, 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	Latin American 1	Sub	12	(A)₂₆=1.00	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, 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	12	(A)₂₆=1.00	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, 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	2	(A)₂₆=1.0	del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0

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 18	NC_000018.10:g.12339248_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339249_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339250_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339251_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339252_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339253_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339254_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339255_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339256_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339257_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339258_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339259_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339260_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339261_12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339262del
GRCh38.p14 chr 18	NC_000018.10:g.12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339261_12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339260_12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339259_12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339258_12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339256_12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339255_12339262dup
GRCh38.p14 chr 18	NC_000018.10:g.12339254_12339262dup
GRCh37.p13 chr 18	NC_000018.9:g.12339247_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339248_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339249_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339250_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339251_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339252_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339253_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339254_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339255_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339256_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339257_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339258_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339259_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339260_12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339261del
GRCh37.p13 chr 18	NC_000018.9:g.12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339260_12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339259_12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339258_12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339257_12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339255_12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339254_12339261dup
GRCh37.p13 chr 18	NC_000018.9:g.12339253_12339261dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43026_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43027_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43028_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43029_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43030_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43031_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43032_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43033_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43034_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43035_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43036_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43037_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43038_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43039_43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43040del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43039_43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43038_43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43037_43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43036_43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43034_43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43033_43040dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43032_43040dup

Gene: AFG3L2, AFG3 like matrix AAA peptidase subunit 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AFG3L2 transcript	NM_006796.3:c.1980+950_19… NM_006796.3:c.1980+950_1980+964del	N/A	Intron Variant
AFG3L2 transcript variant X1	XM_011525601.4:c.1780-171… XM_011525601.4:c.1780-1716_1780-1702del	N/A	Intron Variant

Gene: LOC107985154, uncharacterized LOC107985154 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107985154 transcript variant X1	XR_001753363.2:n.	N/A	Intron Variant
LOC107985154 transcript variant X2	XR_002958227.2:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₆=	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	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₇	dup(A)₈	dup(A)₉
GRCh38.p14 chr 18	NC_000018.10:g.12339237_12339262=	NC_000018.10:g.12339248_12339262del	NC_000018.10:g.12339249_12339262del	NC_000018.10:g.12339250_12339262del	NC_000018.10:g.12339251_12339262del	NC_000018.10:g.12339252_12339262del	NC_000018.10:g.12339253_12339262del	NC_000018.10:g.12339254_12339262del	NC_000018.10:g.12339255_12339262del	NC_000018.10:g.12339256_12339262del	NC_000018.10:g.12339257_12339262del	NC_000018.10:g.12339258_12339262del	NC_000018.10:g.12339259_12339262del	NC_000018.10:g.12339260_12339262del	NC_000018.10:g.12339261_12339262del	NC_000018.10:g.12339262del	NC_000018.10:g.12339262dup	NC_000018.10:g.12339261_12339262dup	NC_000018.10:g.12339260_12339262dup	NC_000018.10:g.12339259_12339262dup	NC_000018.10:g.12339258_12339262dup	NC_000018.10:g.12339256_12339262dup	NC_000018.10:g.12339255_12339262dup	NC_000018.10:g.12339254_12339262dup
GRCh37.p13 chr 18	NC_000018.9:g.12339236_12339261=	NC_000018.9:g.12339247_12339261del	NC_000018.9:g.12339248_12339261del	NC_000018.9:g.12339249_12339261del	NC_000018.9:g.12339250_12339261del	NC_000018.9:g.12339251_12339261del	NC_000018.9:g.12339252_12339261del	NC_000018.9:g.12339253_12339261del	NC_000018.9:g.12339254_12339261del	NC_000018.9:g.12339255_12339261del	NC_000018.9:g.12339256_12339261del	NC_000018.9:g.12339257_12339261del	NC_000018.9:g.12339258_12339261del	NC_000018.9:g.12339259_12339261del	NC_000018.9:g.12339260_12339261del	NC_000018.9:g.12339261del	NC_000018.9:g.12339261dup	NC_000018.9:g.12339260_12339261dup	NC_000018.9:g.12339259_12339261dup	NC_000018.9:g.12339258_12339261dup	NC_000018.9:g.12339257_12339261dup	NC_000018.9:g.12339255_12339261dup	NC_000018.9:g.12339254_12339261dup	NC_000018.9:g.12339253_12339261dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.43015_43040=	NG_023361.1:g.43026_43040del	NG_023361.1:g.43027_43040del	NG_023361.1:g.43028_43040del	NG_023361.1:g.43029_43040del	NG_023361.1:g.43030_43040del	NG_023361.1:g.43031_43040del	NG_023361.1:g.43032_43040del	NG_023361.1:g.43033_43040del	NG_023361.1:g.43034_43040del	NG_023361.1:g.43035_43040del	NG_023361.1:g.43036_43040del	NG_023361.1:g.43037_43040del	NG_023361.1:g.43038_43040del	NG_023361.1:g.43039_43040del	NG_023361.1:g.43040del	NG_023361.1:g.43040dup	NG_023361.1:g.43039_43040dup	NG_023361.1:g.43038_43040dup	NG_023361.1:g.43037_43040dup	NG_023361.1:g.43036_43040dup	NG_023361.1:g.43034_43040dup	NG_023361.1:g.43033_43040dup	NG_023361.1:g.43032_43040dup
AFG3L2 transcript	NM_006796.2:c.1980+964=	NM_006796.2:c.1980+950_1980+964del	NM_006796.2:c.1980+951_1980+964del	NM_006796.2:c.1980+952_1980+964del	NM_006796.2:c.1980+953_1980+964del	NM_006796.2:c.1980+954_1980+964del	NM_006796.2:c.1980+955_1980+964del	NM_006796.2:c.1980+956_1980+964del	NM_006796.2:c.1980+957_1980+964del	NM_006796.2:c.1980+958_1980+964del	NM_006796.2:c.1980+959_1980+964del	NM_006796.2:c.1980+960_1980+964del	NM_006796.2:c.1980+961_1980+964del	NM_006796.2:c.1980+962_1980+964del	NM_006796.2:c.1980+963_1980+964del	NM_006796.2:c.1980+964del	NM_006796.2:c.1980+964dup	NM_006796.2:c.1980+963_1980+964dup	NM_006796.2:c.1980+962_1980+964dup	NM_006796.2:c.1980+961_1980+964dup	NM_006796.2:c.1980+960_1980+964dup	NM_006796.2:c.1980+958_1980+964dup	NM_006796.2:c.1980+957_1980+964dup	NM_006796.2:c.1980+956_1980+964dup
AFG3L2 transcript	NM_006796.3:c.1980+964=	NM_006796.3:c.1980+950_1980+964del	NM_006796.3:c.1980+951_1980+964del	NM_006796.3:c.1980+952_1980+964del	NM_006796.3:c.1980+953_1980+964del	NM_006796.3:c.1980+954_1980+964del	NM_006796.3:c.1980+955_1980+964del	NM_006796.3:c.1980+956_1980+964del	NM_006796.3:c.1980+957_1980+964del	NM_006796.3:c.1980+958_1980+964del	NM_006796.3:c.1980+959_1980+964del	NM_006796.3:c.1980+960_1980+964del	NM_006796.3:c.1980+961_1980+964del	NM_006796.3:c.1980+962_1980+964del	NM_006796.3:c.1980+963_1980+964del	NM_006796.3:c.1980+964del	NM_006796.3:c.1980+964dup	NM_006796.3:c.1980+963_1980+964dup	NM_006796.3:c.1980+962_1980+964dup	NM_006796.3:c.1980+961_1980+964dup	NM_006796.3:c.1980+960_1980+964dup	NM_006796.3:c.1980+958_1980+964dup	NM_006796.3:c.1980+957_1980+964dup	NM_006796.3:c.1980+956_1980+964dup
AFG3L2 transcript variant X1	XM_011525601.4:c.1780-1702=	XM_011525601.4:c.1780-1716_1780-1702del	XM_011525601.4:c.1780-1715_1780-1702del	XM_011525601.4:c.1780-1714_1780-1702del	XM_011525601.4:c.1780-1713_1780-1702del	XM_011525601.4:c.1780-1712_1780-1702del	XM_011525601.4:c.1780-1711_1780-1702del	XM_011525601.4:c.1780-1710_1780-1702del	XM_011525601.4:c.1780-1709_1780-1702del	XM_011525601.4:c.1780-1708_1780-1702del	XM_011525601.4:c.1780-1707_1780-1702del	XM_011525601.4:c.1780-1706_1780-1702del	XM_011525601.4:c.1780-1705_1780-1702del	XM_011525601.4:c.1780-1704_1780-1702del	XM_011525601.4:c.1780-1703_1780-1702del	XM_011525601.4:c.1780-1702del	XM_011525601.4:c.1780-1702dup	XM_011525601.4:c.1780-1703_1780-1702dup	XM_011525601.4:c.1780-1704_1780-1702dup	XM_011525601.4:c.1780-1705_1780-1702dup	XM_011525601.4:c.1780-1706_1780-1702dup	XM_011525601.4:c.1780-1708_1780-1702dup	XM_011525601.4:c.1780-1709_1780-1702dup	XM_011525601.4:c.1780-1710_1780-1702dup

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#.

41 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss96363297	Mar 15, 2016 (147)
2	PJP	ss294930845	Aug 21, 2014 (142)
3	SWEGEN	ss3016179966	Nov 08, 2017 (151)
4	EVA_DECODE	ss3701247449	Jul 13, 2019 (153)
5	EVA_DECODE	ss3701247450	Jul 13, 2019 (153)
6	EVA_DECODE	ss3701247451	Jul 13, 2019 (153)
7	EVA_DECODE	ss3701247452	Jul 13, 2019 (153)
8	EVA_DECODE	ss3701247453	Jul 13, 2019 (153)
9	PACBIO	ss3793257302	Jul 13, 2019 (153)
10	PACBIO	ss3798143531	Jul 13, 2019 (153)
11	PACBIO	ss3798143532	Jul 13, 2019 (153)
12	EVA	ss3835068584	Apr 27, 2020 (154)
13	GNOMAD	ss4318345680	Apr 26, 2021 (155)
14	GNOMAD	ss4318345681	Apr 26, 2021 (155)
15	GNOMAD	ss4318345682	Apr 26, 2021 (155)
16	GNOMAD	ss4318345683	Apr 26, 2021 (155)
17	GNOMAD	ss4318345684	Apr 26, 2021 (155)
18	GNOMAD	ss4318345685	Apr 26, 2021 (155)
19	GNOMAD	ss4318345686	Apr 26, 2021 (155)
20	GNOMAD	ss4318345687	Apr 26, 2021 (155)
21	GNOMAD	ss4318345688	Apr 26, 2021 (155)
22	GNOMAD	ss4318345689	Apr 26, 2021 (155)
23	GNOMAD	ss4318345690	Apr 26, 2021 (155)
24	GNOMAD	ss4318345691	Apr 26, 2021 (155)
25	GNOMAD	ss4318345692	Apr 26, 2021 (155)
26	GNOMAD	ss4318345693	Apr 26, 2021 (155)
27	GNOMAD	ss4318345694	Apr 26, 2021 (155)
28	GNOMAD	ss4318345695	Apr 26, 2021 (155)
29	TOPMED	ss5049159803	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5224225838	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5224225839	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5224225840	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5224225841	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5224225842	Apr 26, 2021 (155)
35	HUGCELL_USP	ss5497417793	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5497417794	Oct 16, 2022 (156)
37	HUGCELL_USP	ss5497417795	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5781012457	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5781012458	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5781012459	Oct 16, 2022 (156)
41	TOMMO_GENOMICS	ss5781012461	Oct 16, 2022 (156)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518377872 (NC_000018.10:12339236::AA 474/39396) Row 518377873 (NC_000018.10:12339236::AAA 409/39402) Row 518377874 (NC_000018.10:12339236::AAAA 15/39392)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 82195145 (NC_000018.9:12339235:AA: 4159/14928) Row 82195146 (NC_000018.9:12339235::A 914/14928) Row 82195147 (NC_000018.9:12339235:AAA: 17/14928)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 82195145 (NC_000018.9:12339235:AA: 4159/14928) Row 82195146 (NC_000018.9:12339235::A 914/14928) Row 82195147 (NC_000018.9:12339235:AAA: 17/14928)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 82195145 (NC_000018.9:12339235:AA: 4159/14928) Row 82195146 (NC_000018.9:12339235::A 914/14928) Row 82195147 (NC_000018.9:12339235:AAA: 17/14928)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 82195145 (NC_000018.9:12339235:AA: 4159/14928) Row 82195146 (NC_000018.9:12339235::A 914/14928) Row 82195147 (NC_000018.9:12339235:AAA: 17/14928)...	-	Apr 26, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 82195145 (NC_000018.9:12339235:AA: 4159/14928) Row 82195146 (NC_000018.9:12339235::A 914/14928) Row 82195147 (NC_000018.9:12339235:AAA: 17/14928)...	-	Apr 26, 2021 (155)
63	14KJPN Submission ignored due to conflicting rows: Row 114849561 (NC_000018.10:12339236:AA: 7617/24450) Row 114849562 (NC_000018.10:12339236::A 1763/24450) Row 114849563 (NC_000018.10:12339236:A: 850/24450)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 114849561 (NC_000018.10:12339236:AA: 7617/24450) Row 114849562 (NC_000018.10:12339236::A 1763/24450) Row 114849563 (NC_000018.10:12339236:A: 850/24450)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 114849561 (NC_000018.10:12339236:AA: 7617/24450) Row 114849562 (NC_000018.10:12339236::A 1763/24450) Row 114849563 (NC_000018.10:12339236:A: 850/24450)...	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 114849561 (NC_000018.10:12339236:AA: 7617/24450) Row 114849562 (NC_000018.10:12339236::A 1763/24450) Row 114849563 (NC_000018.10:12339236:A: 850/24450)...	-	Oct 16, 2022 (156)
67	TopMed	NC_000018.10 - 12339237	Apr 26, 2021 (155)
68	ALFA	NC_000018.10 - 12339237	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
ss4318345695	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4318345694	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4318345693, ss5497417795	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4318345692	NC_000018.10:12339236:AAAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3016179966	NC_000018.9:12339235:AAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
264705466, ss4318345691, ss5049159803	NC_000018.10:12339236:AAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4318345690	NC_000018.10:12339236:AAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4318345689	NC_000018.10:12339236:AAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4318345688	NC_000018.10:12339236:AAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3701247453, ss4318345687	NC_000018.10:12339236:AAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5224225840	NC_000018.9:12339235:AAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247452	NC_000018.10:12339238:AAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss294930845	NC_000018.8:12329235:AA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3793257302, ss3798143531, ss3835068584, ss5224225838	NC_000018.9:12339235:AA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5497417793, ss5781012457	NC_000018.10:12339236:AA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247451	NC_000018.10:12339239:AA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss96363297	NT_010859.14:12329235:AA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5224225841	NC_000018.9:12339235:A:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5497417794, ss5781012459	NC_000018.10:12339236:A:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247450	NC_000018.10:12339240:A:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3798143532, ss5224225839	NC_000018.9:12339235::A	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5781012458	NC_000018.10:12339236::A	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247449	NC_000018.10:12339241::A	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5224225842	NC_000018.9:12339235::AA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345680, ss5781012461	NC_000018.10:12339236::AA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345681	NC_000018.10:12339236::AAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345682	NC_000018.10:12339236::AAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345683	NC_000018.10:12339236::AAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2226602219	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345684	NC_000018.10:12339236::AAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345685	NC_000018.10:12339236::AAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318345686	NC_000018.10:12339236::AAAAAAAAA	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3272863274	NC_000018.10:12339236:AAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
ss3272863280	NC_000018.10:12339236:AAAAAAAAAAAA:	NC_000018.10:12339236:AAAAAAAAAAAA… NC_000018.10:12339236:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

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

No publications for rs539968042

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

rs539968042