Name: rs1218744939
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.

rs1218744939

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:45562344-45562363 (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)₁₂ / del(A)₁₁ / del(A)₇ / de…
del(A)₁₂ / del(A)₁₁ / del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.000004 (1/264690, TOPMED)
dupA=0.01113 (196/17604, 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	Alt HMOZ	HTRZ	HWEP
Total	Global	17604	AAAAAAAAAAAAAAAAAAAA=0.97983	AAAAAAAA=0.00000, AAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00085, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00062, AAAAAAAAAAAAAAAAAAAAA=0.01113, AAAAAAAAAAAAAAAAAAAAAA=0.00574, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00182	0.978728	0.001272	0.02	32
European	Sub	13786	AAAAAAAAAAAAAAAAAAAA=0.97425	AAAAAAAA=0.00000, AAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00109, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00080, AAAAAAAAAAAAAAAAAAAAA=0.01422, AAAAAAAAAAAAAAAAAAAAAA=0.00733, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00232	0.972704	0.001632	0.025664	N/A
African	Sub	2422	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	92	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2330	AAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	110	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	84	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	134	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	600	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	84	AAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	468	AAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₂₀=0.999996	del(A)₁₁=0.000004
Allele Frequency Aggregator	Total	Global	17604	(A)₂₀=0.97983	del(A)₁₂=0.00000, del(A)₁₁=0.00000, del(A)₇=0.00000, del(A)₅=0.00000, del(A)₄=0.00085, delAAA=0.00000, delA=0.00062, dupA=0.01113, dupAA=0.00574, dup(A)₅=0.00182
Allele Frequency Aggregator	European	Sub	13786	(A)₂₀=0.97425	del(A)₁₂=0.00000, del(A)₁₁=0.00000, del(A)₇=0.00000, del(A)₅=0.00000, del(A)₄=0.00109, delAAA=0.00000, delA=0.00080, dupA=0.01422, dupAA=0.00733, dup(A)₅=0.00232
Allele Frequency Aggregator	African	Sub	2422	(A)₂₀=1.0000	del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	600	(A)₂₀=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	468	(A)₂₀=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	134	(A)₂₀=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Asian	Sub	110	(A)₂₀=1.000	del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	84	(A)₂₀=1.00	del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delA=0.00, dupA=0.00, dupAA=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.45562352_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562353_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562357_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562359_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562360_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562361_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562362_45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562363del
GRCh38.p14 chr 19	NC_000019.10:g.45562363dup
GRCh38.p14 chr 19	NC_000019.10:g.45562362_45562363dup
GRCh38.p14 chr 19	NC_000019.10:g.45562361_45562363dup
GRCh38.p14 chr 19	NC_000019.10:g.45562359_45562363dup
GRCh38.p14 chr 19	NC_000019.10:g.45562352_45562363dup
GRCh37.p13 chr 19	NC_000019.9:g.46065610_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065611_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065615_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065617_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065618_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065619_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065620_46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065621del
GRCh37.p13 chr 19	NC_000019.9:g.46065621dup
GRCh37.p13 chr 19	NC_000019.9:g.46065620_46065621dup
GRCh37.p13 chr 19	NC_000019.9:g.46065619_46065621dup
GRCh37.p13 chr 19	NC_000019.9:g.46065617_46065621dup
GRCh37.p13 chr 19	NC_000019.9:g.46065610_46065621dup
OPA3 RefSeqGene	NG_013332.1:g.27510_27521del
OPA3 RefSeqGene	NG_013332.1:g.27511_27521del
OPA3 RefSeqGene	NG_013332.1:g.27515_27521del
OPA3 RefSeqGene	NG_013332.1:g.27517_27521del
OPA3 RefSeqGene	NG_013332.1:g.27518_27521del
OPA3 RefSeqGene	NG_013332.1:g.27519_27521del
OPA3 RefSeqGene	NG_013332.1:g.27520_27521del
OPA3 RefSeqGene	NG_013332.1:g.27521del
OPA3 RefSeqGene	NG_013332.1:g.27521dup
OPA3 RefSeqGene	NG_013332.1:g.27520_27521dup
OPA3 RefSeqGene	NG_013332.1:g.27519_27521dup
OPA3 RefSeqGene	NG_013332.1:g.27517_27521dup
OPA3 RefSeqGene	NG_013332.1:g.27510_27521dup

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.142+2226… NM_001017989.3:c.142+22268_142+22279del	N/A	Intron Variant
OPA3 transcript variant 2	NM_025136.4:c.143-8444_14… NM_025136.4:c.143-8444_143-8433del	N/A	Intron Variant
OPA3 transcript variant X1	XM_006723403.5:c.-157-770… XM_006723403.5:c.-157-7706_-157-7695del	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)₂₀=	del(A)₁₂	del(A)₁₁	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₁₂
GRCh38.p14 chr 19	NC_000019.10:g.45562344_45562363=	NC_000019.10:g.45562352_45562363del	NC_000019.10:g.45562353_45562363del	NC_000019.10:g.45562357_45562363del	NC_000019.10:g.45562359_45562363del	NC_000019.10:g.45562360_45562363del	NC_000019.10:g.45562361_45562363del	NC_000019.10:g.45562362_45562363del	NC_000019.10:g.45562363del	NC_000019.10:g.45562363dup	NC_000019.10:g.45562362_45562363dup	NC_000019.10:g.45562361_45562363dup	NC_000019.10:g.45562359_45562363dup	NC_000019.10:g.45562352_45562363dup
GRCh37.p13 chr 19	NC_000019.9:g.46065602_46065621=	NC_000019.9:g.46065610_46065621del	NC_000019.9:g.46065611_46065621del	NC_000019.9:g.46065615_46065621del	NC_000019.9:g.46065617_46065621del	NC_000019.9:g.46065618_46065621del	NC_000019.9:g.46065619_46065621del	NC_000019.9:g.46065620_46065621del	NC_000019.9:g.46065621del	NC_000019.9:g.46065621dup	NC_000019.9:g.46065620_46065621dup	NC_000019.9:g.46065619_46065621dup	NC_000019.9:g.46065617_46065621dup	NC_000019.9:g.46065610_46065621dup
OPA3 RefSeqGene	NG_013332.1:g.27502_27521=	NG_013332.1:g.27510_27521del	NG_013332.1:g.27511_27521del	NG_013332.1:g.27515_27521del	NG_013332.1:g.27517_27521del	NG_013332.1:g.27518_27521del	NG_013332.1:g.27519_27521del	NG_013332.1:g.27520_27521del	NG_013332.1:g.27521del	NG_013332.1:g.27521dup	NG_013332.1:g.27520_27521dup	NG_013332.1:g.27519_27521dup	NG_013332.1:g.27517_27521dup	NG_013332.1:g.27510_27521dup
OPA3 transcript variant 1	NM_001017989.2:c.142+22279=	NM_001017989.2:c.142+22268_142+22279del	NM_001017989.2:c.142+22269_142+22279del	NM_001017989.2:c.142+22273_142+22279del	NM_001017989.2:c.142+22275_142+22279del	NM_001017989.2:c.142+22276_142+22279del	NM_001017989.2:c.142+22277_142+22279del	NM_001017989.2:c.142+22278_142+22279del	NM_001017989.2:c.142+22279del	NM_001017989.2:c.142+22279dup	NM_001017989.2:c.142+22278_142+22279dup	NM_001017989.2:c.142+22277_142+22279dup	NM_001017989.2:c.142+22275_142+22279dup	NM_001017989.2:c.142+22268_142+22279dup
OPA3 transcript variant 1	NM_001017989.3:c.142+22279=	NM_001017989.3:c.142+22268_142+22279del	NM_001017989.3:c.142+22269_142+22279del	NM_001017989.3:c.142+22273_142+22279del	NM_001017989.3:c.142+22275_142+22279del	NM_001017989.3:c.142+22276_142+22279del	NM_001017989.3:c.142+22277_142+22279del	NM_001017989.3:c.142+22278_142+22279del	NM_001017989.3:c.142+22279del	NM_001017989.3:c.142+22279dup	NM_001017989.3:c.142+22278_142+22279dup	NM_001017989.3:c.142+22277_142+22279dup	NM_001017989.3:c.142+22275_142+22279dup	NM_001017989.3:c.142+22268_142+22279dup
OPA3 transcript variant 2	NM_025136.3:c.143-8433=	NM_025136.3:c.143-8444_143-8433del	NM_025136.3:c.143-8443_143-8433del	NM_025136.3:c.143-8439_143-8433del	NM_025136.3:c.143-8437_143-8433del	NM_025136.3:c.143-8436_143-8433del	NM_025136.3:c.143-8435_143-8433del	NM_025136.3:c.143-8434_143-8433del	NM_025136.3:c.143-8433del	NM_025136.3:c.143-8433dup	NM_025136.3:c.143-8434_143-8433dup	NM_025136.3:c.143-8435_143-8433dup	NM_025136.3:c.143-8437_143-8433dup	NM_025136.3:c.143-8444_143-8433dup
OPA3 transcript variant 2	NM_025136.4:c.143-8433=	NM_025136.4:c.143-8444_143-8433del	NM_025136.4:c.143-8443_143-8433del	NM_025136.4:c.143-8439_143-8433del	NM_025136.4:c.143-8437_143-8433del	NM_025136.4:c.143-8436_143-8433del	NM_025136.4:c.143-8435_143-8433del	NM_025136.4:c.143-8434_143-8433del	NM_025136.4:c.143-8433del	NM_025136.4:c.143-8433dup	NM_025136.4:c.143-8434_143-8433dup	NM_025136.4:c.143-8435_143-8433dup	NM_025136.4:c.143-8437_143-8433dup	NM_025136.4:c.143-8444_143-8433dup
OPA3 transcript variant X1	XM_005259278.1:c.-17-8433=	XM_005259278.1:c.-17-8444_-17-8433del	XM_005259278.1:c.-17-8443_-17-8433del	XM_005259278.1:c.-17-8439_-17-8433del	XM_005259278.1:c.-17-8437_-17-8433del	XM_005259278.1:c.-17-8436_-17-8433del	XM_005259278.1:c.-17-8435_-17-8433del	XM_005259278.1:c.-17-8434_-17-8433del	XM_005259278.1:c.-17-8433del	XM_005259278.1:c.-17-8433dup	XM_005259278.1:c.-17-8434_-17-8433dup	XM_005259278.1:c.-17-8435_-17-8433dup	XM_005259278.1:c.-17-8437_-17-8433dup	XM_005259278.1:c.-17-8444_-17-8433dup
OPA3 transcript variant X1	XM_006723403.5:c.-157-7695=	XM_006723403.5:c.-157-7706_-157-7695del	XM_006723403.5:c.-157-7705_-157-7695del	XM_006723403.5:c.-157-7701_-157-7695del	XM_006723403.5:c.-157-7699_-157-7695del	XM_006723403.5:c.-157-7698_-157-7695del	XM_006723403.5:c.-157-7697_-157-7695del	XM_006723403.5:c.-157-7696_-157-7695del	XM_006723403.5:c.-157-7695del	XM_006723403.5:c.-157-7695dup	XM_006723403.5:c.-157-7696_-157-7695dup	XM_006723403.5:c.-157-7697_-157-7695dup	XM_006723403.5:c.-157-7699_-157-7695dup	XM_006723403.5:c.-157-7706_-157-7695dup

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#.

40 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3017549597	Nov 08, 2017 (151)
2	MCHAISSO	ss3064766163	Jan 10, 2018 (151)
3	EVA_DECODE	ss3702856142	Jul 13, 2019 (153)
4	EVA_DECODE	ss3702856143	Jul 13, 2019 (153)
5	EVA_DECODE	ss3702856144	Jul 13, 2019 (153)
6	EVA_DECODE	ss3702856145	Jul 13, 2019 (153)
7	EVA_DECODE	ss3702856146	Jul 13, 2019 (153)
8	KOGIC	ss3981449399	Apr 27, 2020 (154)
9	KOGIC	ss3981449400	Apr 27, 2020 (154)
10	GNOMAD	ss4332031881	Apr 26, 2021 (155)
11	GNOMAD	ss4332031882	Apr 26, 2021 (155)
12	GNOMAD	ss4332031883	Apr 26, 2021 (155)
13	GNOMAD	ss4332031884	Apr 26, 2021 (155)
14	GNOMAD	ss4332031885	Apr 26, 2021 (155)
15	GNOMAD	ss4332031886	Apr 26, 2021 (155)
16	GNOMAD	ss4332031887	Apr 26, 2021 (155)
17	GNOMAD	ss4332031888	Apr 26, 2021 (155)
18	GNOMAD	ss4332031889	Apr 26, 2021 (155)
19	GNOMAD	ss4332031890	Apr 26, 2021 (155)
20	GNOMAD	ss4332031891	Apr 26, 2021 (155)
21	GNOMAD	ss4332031892	Apr 26, 2021 (155)
22	GNOMAD	ss4332031893	Apr 26, 2021 (155)
23	TOPMED	ss5076339874	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5227975753	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5227975754	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5227975755	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5227975756	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5307415005	Oct 13, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5307415006	Oct 13, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5307415008	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5499908006	Oct 13, 2022 (156)
32	HUGCELL_USP	ss5499908007	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5499908008	Oct 13, 2022 (156)
34	SANFORD_IMAGENETICS	ss5662485656	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5786679265	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5786679266	Oct 13, 2022 (156)
37	TOMMO_GENOMICS	ss5786679267	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5786679269	Oct 13, 2022 (156)
39	YY_MCH	ss5817641178	Oct 13, 2022 (156)
40	EVA	ss5852305832	Oct 13, 2022 (156)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 541344965 (NC_000019.10:45562343::A 168/62202) Row 541344966 (NC_000019.10:45562343::AA 4/63096) Row 541344967 (NC_000019.10:45562343::AAA 4/63184)...	-	Apr 26, 2021 (155)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 37827400 (NC_000019.10:45562347::A 44/1794) Row 37827401 (NC_000019.10:45562343:AAAA: 26/1794)	-	Apr 27, 2020 (154)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 37827400 (NC_000019.10:45562347::A 44/1794) Row 37827401 (NC_000019.10:45562343:AAAA: 26/1794)	-	Apr 27, 2020 (154)
56	8.3KJPN Submission ignored due to conflicting rows: Row 85945060 (NC_000019.9:46065601::A 74/16006) Row 85945061 (NC_000019.9:46065601::AA 44/16006) Row 85945062 (NC_000019.9:46065601:AAAA: 209/16006)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 85945060 (NC_000019.9:46065601::A 74/16006) Row 85945061 (NC_000019.9:46065601::AA 44/16006) Row 85945062 (NC_000019.9:46065601:AAAA: 209/16006)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 85945060 (NC_000019.9:46065601::A 74/16006) Row 85945061 (NC_000019.9:46065601::AA 44/16006) Row 85945062 (NC_000019.9:46065601:AAAA: 209/16006)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 85945060 (NC_000019.9:46065601::A 74/16006) Row 85945061 (NC_000019.9:46065601::AA 44/16006) Row 85945062 (NC_000019.9:46065601:AAAA: 209/16006)...	-	Apr 26, 2021 (155)
60	14KJPN Submission ignored due to conflicting rows: Row 120516369 (NC_000019.10:45562343:AAAA: 359/26798) Row 120516370 (NC_000019.10:45562343::A 234/26798) Row 120516371 (NC_000019.10:45562343::AA 59/26798)...	-	Oct 13, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 120516369 (NC_000019.10:45562343:AAAA: 359/26798) Row 120516370 (NC_000019.10:45562343::A 234/26798) Row 120516371 (NC_000019.10:45562343::AA 59/26798)...	-	Oct 13, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 120516369 (NC_000019.10:45562343:AAAA: 359/26798) Row 120516370 (NC_000019.10:45562343::A 234/26798) Row 120516371 (NC_000019.10:45562343::AA 59/26798)...	-	Oct 13, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 120516369 (NC_000019.10:45562343:AAAA: 359/26798) Row 120516370 (NC_000019.10:45562343::A 234/26798) Row 120516371 (NC_000019.10:45562343::AA 59/26798)...	-	Oct 13, 2022 (156)
64	TopMed	NC_000019.10 - 45562344	Apr 26, 2021 (155)
65	ALFA	NC_000019.10 - 45562344	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
ss4332031893	NC_000019.10:45562343:AAAAAAAAAAAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
291885538, ss4332031892, ss5076339874	NC_000019.10:45562343:AAAAAAAAAAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4332031891	NC_000019.10:45562343:AAAAAAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4332031890	NC_000019.10:45562343:AAAAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3017549597, ss5227975755, ss5662485656	NC_000019.9:46065601:AAAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3702856146, ss3981449400, ss4332031889, ss5307415006, ss5499908007, ss5786679265, ss5817641178, ss5852305832	NC_000019.10:45562343:AAAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5227975756	NC_000019.9:46065601:AAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4332031888, ss5786679269	NC_000019.10:45562343:AAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3702856145	NC_000019.10:45562344:AAA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3064766163, ss4332031887	NC_000019.10:45562343:AA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3702856144	NC_000019.10:45562345:AA:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4332031886, ss5307415008, ss5499908008	NC_000019.10:45562343:A:	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5227975753	NC_000019.9:46065601::A	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4332031881, ss5307415005, ss5499908006, ss5786679266	NC_000019.10:45562343::A	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3702856143, ss3981449399	NC_000019.10:45562347::A	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5227975754	NC_000019.9:46065601::AA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332031882, ss5786679267	NC_000019.10:45562343::AA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332031883	NC_000019.10:45562343::AAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3702856142	NC_000019.10:45562347::AAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332031884	NC_000019.10:45562343::AAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
8157337029	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4332031885	NC_000019.10:45562343::AAAAAAAAAAAA	NC_000019.10:45562343:AAAAAAAAAAAA… NC_000019.10:45562343:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs1218744939

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

rs1218744939