Name: rs55910021
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.

rs55910021

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:61040252-61040287 (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(AC)₁₀ / del(AC)₈ / del(AC)₇ / …
del(AC)₁₀ / del(AC)₈ / del(AC)₇ / del(AC)₆ / del(AC)₅ / del(AC)₄ / del(AC)₃ / delACAC / delAC / dupAC / dupACAC / dup(AC)₃ / dup(AC)₄ / dup(AC)₅ / dup(AC)₆ / dup(AC)₇ / dup(AC)₈ / dup(AC)₉ / dup(AC)₁₀ / dup(AC)₁₁
Variation Type: Indel Insertion and Deletion
Frequency: dup(AC)₄=0.0903 (783/8674, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NDUFAF2 : 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	8674	ACACACACACACACACACACACACACACACACACAC=0.7631	ACACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACAC=0.0300, ACACACACACACACACACACACACACACACACAC=0.0484, ACACACACACACACACACACACACACACACACACACACACACAC=0.0903, ACACACACACACACACACACACACACACACACACACACAC=0.0235, ACACACACACACACACACACACACACACACACACACACACAC=0.0348, ACACACACACACACACACACACACACACACACACACACACACACAC=0.0099, ACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	0.856233	0.03306	0.110707	32
European	Sub	6598	ACACACACACACACACACACACACACACACACACAC=0.6891	ACACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACAC=0.0394, ACACACACACACACACACACACACACACACACAC=0.0637, ACACACACACACACACACACACACACACACACACACACACACAC=0.1181, ACACACACACACACACACACACACACACACACACACACAC=0.0309, ACACACACACACACACACACACACACACACACACACACACAC=0.0458, ACACACACACACACACACACACACACACACACACACACACACACAC=0.0130, ACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	0.791501	0.047809	0.160691	32
African	Sub	1660	ACACACACACACACACACACACACACACACACACAC=1.0000	ACACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	70	ACACACACACACACACACACACACACACACACACAC=1.00	ACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
African American	Sub	1590	ACACACACACACACACACACACACACACACACACAC=1.0000	ACACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	18	ACACACACACACACACACACACACACACACACACAC=1.00	ACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	ACACACACACACACACACACACACACACACACACAC=1.00	ACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	ACACACACACACACACACACACACACACACACACAC=1.0	ACACACACACACACAC=0.0, ACACACACACACACACACAC=0.0, ACACACACACACACACACACAC=0.0, ACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	60	ACACACACACACACACACACACACACACACACACAC=1.00	ACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	148	ACACACACACACACACACACACACACACACACACAC=1.000	ACACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	34	ACACACACACACACACACACACACACACACACACAC=1.00	ACACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other	Sub	156	ACACACACACACACACACACACACACACACACACAC=0.974	ACACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACAC=0.026, ACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACACACACACACACACAC=0.000	0.961538	0.012821	0.025641	10

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	8674	(AC)₁₈=0.7631	del(AC)₁₀=0.0000, del(AC)₈=0.0000, del(AC)₇=0.0000, del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0300, delAC=0.0484, dupAC=0.0000, dupACAC=0.0235, dup(AC)₃=0.0348, dup(AC)₄=0.0903, dup(AC)₅=0.0099, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000
Allele Frequency Aggregator	European	Sub	6598	(AC)₁₈=0.6891	del(AC)₁₀=0.0000, del(AC)₈=0.0000, del(AC)₇=0.0000, del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0394, delAC=0.0637, dupAC=0.0000, dupACAC=0.0309, dup(AC)₃=0.0458, dup(AC)₄=0.1181, dup(AC)₅=0.0130, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000
Allele Frequency Aggregator	African	Sub	1660	(AC)₁₈=1.0000	del(AC)₁₀=0.0000, del(AC)₈=0.0000, del(AC)₇=0.0000, del(AC)₆=0.0000, del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0000, dupACAC=0.0000, dup(AC)₃=0.0000, dup(AC)₄=0.0000, dup(AC)₅=0.0000, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000
Allele Frequency Aggregator	Other	Sub	156	(AC)₁₈=0.974	del(AC)₁₀=0.000, del(AC)₈=0.000, del(AC)₇=0.000, del(AC)₆=0.000, del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.026, dup(AC)₅=0.000, dup(AC)₆=0.000, dup(AC)₇=0.000, dup(AC)₈=0.000
Allele Frequency Aggregator	Latin American 2	Sub	148	(AC)₁₈=1.000	del(AC)₁₀=0.000, del(AC)₈=0.000, del(AC)₇=0.000, del(AC)₆=0.000, del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000, dup(AC)₅=0.000, dup(AC)₆=0.000, dup(AC)₇=0.000, dup(AC)₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	60	(AC)₁₈=1.00	del(AC)₁₀=0.00, del(AC)₈=0.00, del(AC)₇=0.00, del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00
Allele Frequency Aggregator	South Asian	Sub	34	(AC)₁₈=1.00	del(AC)₁₀=0.00, del(AC)₈=0.00, del(AC)₇=0.00, del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00
Allele Frequency Aggregator	Asian	Sub	18	(AC)₁₈=1.00	del(AC)₁₀=0.00, del(AC)₈=0.00, del(AC)₇=0.00, del(AC)₆=0.00, del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=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 5	NC_000005.10:g.61040252AC[8]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[10]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[11]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[12]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[13]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[14]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[15]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[16]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[17]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[19]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[20]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[21]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[22]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[23]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[24]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[25]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[26]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[27]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[28]
GRCh38.p14 chr 5	NC_000005.10:g.61040252AC[29]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[8]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[10]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[11]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[12]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[13]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[14]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[15]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[16]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[17]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[19]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[20]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[21]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[22]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[23]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[24]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[25]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[26]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[27]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[28]
GRCh37.p13 chr 5	NC_000005.9:g.60336079AC[29]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[8]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[10]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[11]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[12]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[13]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[14]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[15]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[16]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[17]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[19]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[20]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[21]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[22]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[23]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[24]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[25]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[26]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[27]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[28]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124AC[29]

Gene: NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFAF2 transcript	NM_174889.5:c.128-32873AC… NM_174889.5:c.128-32873AC[8]	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	(AC)₁₈=	del(AC)₁₀	del(AC)₈	del(AC)₇	del(AC)₆	del(AC)₅	del(AC)₄	del(AC)₃	delACAC	delAC	dupAC	dupACAC	dup(AC)₃	dup(AC)₄	dup(AC)₅	dup(AC)₆	dup(AC)₇	dup(AC)₈	dup(AC)₉	dup(AC)₁₀	dup(AC)₁₁
GRCh38.p14 chr 5	NC_000005.10:g.61040252_61040287=	NC_000005.10:g.61040252AC[8]	NC_000005.10:g.61040252AC[10]	NC_000005.10:g.61040252AC[11]	NC_000005.10:g.61040252AC[12]	NC_000005.10:g.61040252AC[13]	NC_000005.10:g.61040252AC[14]	NC_000005.10:g.61040252AC[15]	NC_000005.10:g.61040252AC[16]	NC_000005.10:g.61040252AC[17]	NC_000005.10:g.61040252AC[19]	NC_000005.10:g.61040252AC[20]	NC_000005.10:g.61040252AC[21]	NC_000005.10:g.61040252AC[22]	NC_000005.10:g.61040252AC[23]	NC_000005.10:g.61040252AC[24]	NC_000005.10:g.61040252AC[25]	NC_000005.10:g.61040252AC[26]	NC_000005.10:g.61040252AC[27]	NC_000005.10:g.61040252AC[28]	NC_000005.10:g.61040252AC[29]
GRCh37.p13 chr 5	NC_000005.9:g.60336079_60336114=	NC_000005.9:g.60336079AC[8]	NC_000005.9:g.60336079AC[10]	NC_000005.9:g.60336079AC[11]	NC_000005.9:g.60336079AC[12]	NC_000005.9:g.60336079AC[13]	NC_000005.9:g.60336079AC[14]	NC_000005.9:g.60336079AC[15]	NC_000005.9:g.60336079AC[16]	NC_000005.9:g.60336079AC[17]	NC_000005.9:g.60336079AC[19]	NC_000005.9:g.60336079AC[20]	NC_000005.9:g.60336079AC[21]	NC_000005.9:g.60336079AC[22]	NC_000005.9:g.60336079AC[23]	NC_000005.9:g.60336079AC[24]	NC_000005.9:g.60336079AC[25]	NC_000005.9:g.60336079AC[26]	NC_000005.9:g.60336079AC[27]	NC_000005.9:g.60336079AC[28]	NC_000005.9:g.60336079AC[29]
NDUFAF2 RefSeqGene	NG_008978.1:g.100124_100159=	NG_008978.1:g.100124AC[8]	NG_008978.1:g.100124AC[10]	NG_008978.1:g.100124AC[11]	NG_008978.1:g.100124AC[12]	NG_008978.1:g.100124AC[13]	NG_008978.1:g.100124AC[14]	NG_008978.1:g.100124AC[15]	NG_008978.1:g.100124AC[16]	NG_008978.1:g.100124AC[17]	NG_008978.1:g.100124AC[19]	NG_008978.1:g.100124AC[20]	NG_008978.1:g.100124AC[21]	NG_008978.1:g.100124AC[22]	NG_008978.1:g.100124AC[23]	NG_008978.1:g.100124AC[24]	NG_008978.1:g.100124AC[25]	NG_008978.1:g.100124AC[26]	NG_008978.1:g.100124AC[27]	NG_008978.1:g.100124AC[28]	NG_008978.1:g.100124AC[29]
NDUFAF2 transcript	NM_174889.4:c.128-32873=	NM_174889.4:c.128-32873AC[8]	NM_174889.4:c.128-32873AC[10]	NM_174889.4:c.128-32873AC[11]	NM_174889.4:c.128-32873AC[12]	NM_174889.4:c.128-32873AC[13]	NM_174889.4:c.128-32873AC[14]	NM_174889.4:c.128-32873AC[15]	NM_174889.4:c.128-32873AC[16]	NM_174889.4:c.128-32873AC[17]	NM_174889.4:c.128-32873AC[19]	NM_174889.4:c.128-32873AC[20]	NM_174889.4:c.128-32873AC[21]	NM_174889.4:c.128-32873AC[22]	NM_174889.4:c.128-32873AC[23]	NM_174889.4:c.128-32873AC[24]	NM_174889.4:c.128-32873AC[25]	NM_174889.4:c.128-32873AC[26]	NM_174889.4:c.128-32873AC[27]	NM_174889.4:c.128-32873AC[28]	NM_174889.4:c.128-32873AC[29]
NDUFAF2 transcript	NM_174889.5:c.128-32873=	NM_174889.5:c.128-32873AC[8]	NM_174889.5:c.128-32873AC[10]	NM_174889.5:c.128-32873AC[11]	NM_174889.5:c.128-32873AC[12]	NM_174889.5:c.128-32873AC[13]	NM_174889.5:c.128-32873AC[14]	NM_174889.5:c.128-32873AC[15]	NM_174889.5:c.128-32873AC[16]	NM_174889.5:c.128-32873AC[17]	NM_174889.5:c.128-32873AC[19]	NM_174889.5:c.128-32873AC[20]	NM_174889.5:c.128-32873AC[21]	NM_174889.5:c.128-32873AC[22]	NM_174889.5:c.128-32873AC[23]	NM_174889.5:c.128-32873AC[24]	NM_174889.5:c.128-32873AC[25]	NM_174889.5:c.128-32873AC[26]	NM_174889.5:c.128-32873AC[27]	NM_174889.5:c.128-32873AC[28]	NM_174889.5:c.128-32873AC[29]

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#.

66 SubSNP, 42 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77878864	Dec 06, 2007 (129)
2	EVA_UK10K_ALSPAC	ss1704688958	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1704688960	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1704688993	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1704688996	Apr 01, 2015 (144)
6	SWEGEN	ss2997002492	Nov 08, 2017 (151)
7	MCHAISSO	ss3064158608	Nov 08, 2017 (151)
8	MCHAISSO	ss3065031558	Nov 08, 2017 (151)
9	MCHAISSO	ss3065031559	Nov 08, 2017 (151)
10	MCHAISSO	ss3065031560	Nov 08, 2017 (151)
11	MCHAISSO	ss3066019522	Nov 08, 2017 (151)
12	KHV_HUMAN_GENOMES	ss3806652206	Jul 13, 2019 (153)
13	KHV_HUMAN_GENOMES	ss3806652207	Jul 13, 2019 (153)
14	EVA	ss3829266283	Apr 26, 2020 (154)
15	KOGIC	ss3956767576	Apr 26, 2020 (154)
16	KOGIC	ss3956767577	Apr 26, 2020 (154)
17	KOGIC	ss3956767578	Apr 26, 2020 (154)
18	KOGIC	ss3956767579	Apr 26, 2020 (154)
19	KOGIC	ss3956767580	Apr 26, 2020 (154)
20	KOGIC	ss3956767581	Apr 26, 2020 (154)
21	GNOMAD	ss4105206954	Apr 26, 2021 (155)
22	GNOMAD	ss4105206955	Apr 26, 2021 (155)
23	GNOMAD	ss4105206956	Apr 26, 2021 (155)
24	GNOMAD	ss4105206957	Apr 26, 2021 (155)
25	GNOMAD	ss4105206958	Apr 26, 2021 (155)
26	GNOMAD	ss4105206959	Apr 26, 2021 (155)
27	GNOMAD	ss4105206960	Apr 26, 2021 (155)
28	GNOMAD	ss4105206961	Apr 26, 2021 (155)
29	GNOMAD	ss4105206962	Apr 26, 2021 (155)
30	GNOMAD	ss4105206963	Apr 26, 2021 (155)
31	GNOMAD	ss4105206964	Apr 26, 2021 (155)
32	GNOMAD	ss4105206965	Apr 26, 2021 (155)
33	GNOMAD	ss4105206966	Apr 26, 2021 (155)
34	GNOMAD	ss4105206967	Apr 26, 2021 (155)
35	GNOMAD	ss4105206968	Apr 26, 2021 (155)
36	GNOMAD	ss4105206969	Apr 26, 2021 (155)
37	GNOMAD	ss4105206970	Apr 26, 2021 (155)
38	GNOMAD	ss4105206971	Apr 26, 2021 (155)
39	GNOMAD	ss4105206972	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5171931302	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5171931303	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5171931304	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5171931305	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5171931306	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5171931307	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5264122963	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5264122964	Oct 13, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5264122965	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5264122966	Oct 13, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5264122967	Oct 13, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5264122968	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5462288663	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5462288664	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5462288665	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5462288666	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5462288667	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5462288668	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5708381725	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5708381726	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5708381727	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5708381728	Oct 13, 2022 (156)
62	TOMMO_GENOMICS	ss5708381729	Oct 13, 2022 (156)
63	TOMMO_GENOMICS	ss5708381730	Oct 13, 2022 (156)
64	EVA	ss5834985365	Oct 13, 2022 (156)
65	EVA	ss5834985366	Oct 13, 2022 (156)
66	EVA	ss5834985367	Oct 13, 2022 (156)
67	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14939637 (NC_000005.9:60336078::ACACACAC 894/3854) Row 14939638 (NC_000005.9:60336078::ACACAC 1821/3854)	-	Oct 12, 2018 (152)
68	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14939637 (NC_000005.9:60336078::ACACACAC 894/3854) Row 14939638 (NC_000005.9:60336078::ACACAC 1821/3854)	-	Oct 12, 2018 (152)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189899216 (NC_000005.10:61040251::AC 2991/122280) Row 189899217 (NC_000005.10:61040251::ACAC 4918/122198) Row 189899218 (NC_000005.10:61040251::ACACAC 8146/122054)...	-	Apr 26, 2021 (155)
88	Korean Genome Project Submission ignored due to conflicting rows: Row 13145577 (NC_000005.10:61040259::AC 153/1832) Row 13145578 (NC_000005.10:61040259::ACACAC 335/1832) Row 13145579 (NC_000005.10:61040259::ACACACACAC 68/1832)...	-	Apr 26, 2020 (154)
89	Korean Genome Project Submission ignored due to conflicting rows: Row 13145577 (NC_000005.10:61040259::AC 153/1832) Row 13145578 (NC_000005.10:61040259::ACACAC 335/1832) Row 13145579 (NC_000005.10:61040259::ACACACACAC 68/1832)...	-	Apr 26, 2020 (154)
90	Korean Genome Project Submission ignored due to conflicting rows: Row 13145577 (NC_000005.10:61040259::AC 153/1832) Row 13145578 (NC_000005.10:61040259::ACACAC 335/1832) Row 13145579 (NC_000005.10:61040259::ACACACACAC 68/1832)...	-	Apr 26, 2020 (154)
91	Korean Genome Project Submission ignored due to conflicting rows: Row 13145577 (NC_000005.10:61040259::AC 153/1832) Row 13145578 (NC_000005.10:61040259::ACACAC 335/1832) Row 13145579 (NC_000005.10:61040259::ACACACACAC 68/1832)...	-	Apr 26, 2020 (154)
92	Korean Genome Project Submission ignored due to conflicting rows: Row 13145577 (NC_000005.10:61040259::AC 153/1832) Row 13145578 (NC_000005.10:61040259::ACACAC 335/1832) Row 13145579 (NC_000005.10:61040259::ACACACACAC 68/1832)...	-	Apr 26, 2020 (154)
93	Korean Genome Project Submission ignored due to conflicting rows: Row 13145577 (NC_000005.10:61040259::AC 153/1832) Row 13145578 (NC_000005.10:61040259::ACACAC 335/1832) Row 13145579 (NC_000005.10:61040259::ACACACACAC 68/1832)...	-	Apr 26, 2020 (154)
94	8.3KJPN Submission ignored due to conflicting rows: Row 29900609 (NC_000005.9:60336078::ACACACAC 3612/16760) Row 29900610 (NC_000005.9:60336078::ACACAC 2020/16760) Row 29900611 (NC_000005.9:60336078::AC 925/16760)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 29900609 (NC_000005.9:60336078::ACACACAC 3612/16760) Row 29900610 (NC_000005.9:60336078::ACACAC 2020/16760) Row 29900611 (NC_000005.9:60336078::AC 925/16760)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 29900609 (NC_000005.9:60336078::ACACACAC 3612/16760) Row 29900610 (NC_000005.9:60336078::ACACAC 2020/16760) Row 29900611 (NC_000005.9:60336078::AC 925/16760)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 29900609 (NC_000005.9:60336078::ACACACAC 3612/16760) Row 29900610 (NC_000005.9:60336078::ACACAC 2020/16760) Row 29900611 (NC_000005.9:60336078::AC 925/16760)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 29900609 (NC_000005.9:60336078::ACACACAC 3612/16760) Row 29900610 (NC_000005.9:60336078::ACACAC 2020/16760) Row 29900611 (NC_000005.9:60336078::AC 925/16760)...	-	Apr 26, 2021 (155)
99	8.3KJPN Submission ignored due to conflicting rows: Row 29900609 (NC_000005.9:60336078::ACACACAC 3612/16760) Row 29900610 (NC_000005.9:60336078::ACACAC 2020/16760) Row 29900611 (NC_000005.9:60336078::AC 925/16760)...	-	Apr 26, 2021 (155)
100	14KJPN Submission ignored due to conflicting rows: Row 42218829 (NC_000005.10:61040251::ACACACAC 6112/28256) Row 42218830 (NC_000005.10:61040251:ACACACAC: 461/28256) Row 42218831 (NC_000005.10:61040251::ACAC 1292/28256)...	-	Oct 13, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 42218829 (NC_000005.10:61040251::ACACACAC 6112/28256) Row 42218830 (NC_000005.10:61040251:ACACACAC: 461/28256) Row 42218831 (NC_000005.10:61040251::ACAC 1292/28256)...	-	Oct 13, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 42218829 (NC_000005.10:61040251::ACACACAC 6112/28256) Row 42218830 (NC_000005.10:61040251:ACACACAC: 461/28256) Row 42218831 (NC_000005.10:61040251::ACAC 1292/28256)...	-	Oct 13, 2022 (156)
103	14KJPN Submission ignored due to conflicting rows: Row 42218829 (NC_000005.10:61040251::ACACACAC 6112/28256) Row 42218830 (NC_000005.10:61040251:ACACACAC: 461/28256) Row 42218831 (NC_000005.10:61040251::ACAC 1292/28256)...	-	Oct 13, 2022 (156)
104	14KJPN Submission ignored due to conflicting rows: Row 42218829 (NC_000005.10:61040251::ACACACAC 6112/28256) Row 42218830 (NC_000005.10:61040251:ACACACAC: 461/28256) Row 42218831 (NC_000005.10:61040251::ACAC 1292/28256)...	-	Oct 13, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 42218829 (NC_000005.10:61040251::ACACACAC 6112/28256) Row 42218830 (NC_000005.10:61040251:ACACACAC: 461/28256) Row 42218831 (NC_000005.10:61040251::ACAC 1292/28256)...	-	Oct 13, 2022 (156)
106	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14939637 (NC_000005.9:60336078::ACACACAC 858/3708) Row 14939638 (NC_000005.9:60336078::ACACAC 1722/3708)	-	Oct 12, 2018 (152)
107	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14939637 (NC_000005.9:60336078::ACACACAC 858/3708) Row 14939638 (NC_000005.9:60336078::ACACAC 1722/3708)	-	Oct 12, 2018 (152)
108	ALFA	NC_000005.10 - 61040252	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
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC	(self)
ss4105206972	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC	(self)
ss4105206971	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC	(self)
ss4105206970	NC_000005.10:61040251:ACACACACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC	(self)
ss4105206969	NC_000005.10:61040251:ACACACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC	(self)
ss5171931305	NC_000005.9:60336078:ACACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)
ss3806652206, ss3956767579, ss4105206968, ss5708381726	NC_000005.10:61040251:ACACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC	(self)
ss3065031559, ss4105206967	NC_000005.10:61040251:ACACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC	(self)
ss2997002492	NC_000005.9:60336078:ACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC	(self)
ss4105206966, ss5264122968, ss5462288663	NC_000005.10:61040251:ACAC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC	(self)
ss77878864	NC_000005.8:60371869:AC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC	(self)
ss3829266283	NC_000005.9:60336078:AC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC	(self)
ss4105206965, ss5264122963, ss5462288664	NC_000005.10:61040251:AC:	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC	(self)
ss5171931304	NC_000005.9:60336078::AC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206954, ss5264122966, ss5708381729	NC_000005.10:61040251::AC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	(self)
ss3956767576	NC_000005.10:61040259::AC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC	(self)
ss5171931306, ss5834985365	NC_000005.9:60336078::ACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206955, ss5264122965, ss5462288668, ss5708381727	NC_000005.10:61040251::ACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC	(self)
ss3956767580	NC_000005.10:61040259::ACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC	(self)
ss1704688960, ss1704688996, ss5171931303, ss5834985367	NC_000005.9:60336078::ACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC	(self)
ss3064158608, ss3065031558, ss3065031560, ss3066019522, ss4105206956, ss5264122967, ss5462288666, ss5708381728	NC_000005.10:61040251::ACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC	(self)
ss3806652207, ss3956767577	NC_000005.10:61040259::ACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC	(self)
ss1704688958, ss1704688993, ss5171931302, ss5834985366	NC_000005.9:60336078::ACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206957, ss5264122964, ss5462288667, ss5708381725	NC_000005.10:61040251::ACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss3956767581	NC_000005.10:61040259::ACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss5171931307	NC_000005.9:60336078::ACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206958, ss5462288665, ss5708381730	NC_000005.10:61040251::ACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss3956767578	NC_000005.10:61040259::ACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206959	NC_000005.10:61040251::ACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206960	NC_000005.10:61040251::ACACACACACA… NC_000005.10:61040251::ACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206961	NC_000005.10:61040251::ACACACACACA… NC_000005.10:61040251::ACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
4121764606	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206962	NC_000005.10:61040251::ACACACACACA… NC_000005.10:61040251::ACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206963	NC_000005.10:61040251::ACACACACACA… NC_000005.10:61040251::ACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC	(self)
ss4105206964	NC_000005.10:61040251::ACACACACACA… NC_000005.10:61040251::ACACACACACACACACACACAC	NC_000005.10:61040251:ACACACACACAC… NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC	(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 rs55910021

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

rs55910021