Name: rs11472201
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.

rs11472201

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:13802672-13802690 (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)₁₀ / del(A)₉ / del(A)₈ / del…
del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₀=0.000 (0/986, ALFA)
del(A)₉=0.000 (0/986, ALFA)
del(A)₈=0.000 (0/986, ALFA) (+ 11 more)
del(A)₇=0.000 (0/986, ALFA)
del(A)₆=0.000 (0/986, ALFA)
del(A)₅=0.000 (0/986, ALFA)
del(A)₄=0.000 (0/986, ALFA)
delAAA=0.000 (0/986, ALFA)
delAA=0.000 (0/986, ALFA)
delA=0.000 (0/986, ALFA)
dupA=0.000 (0/986, ALFA)
dupAA=0.000 (0/986, ALFA)
dupAAA=0.000 (0/986, ALFA)
dup(A)₄=0.000 (0/986, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NDUFAF5 : 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	986	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	806	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	34	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	34	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	18	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	72	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	22	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	30	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	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
Allele Frequency Aggregator	Total	Global	986	(A)₁₉=1.000	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
Allele Frequency Aggregator	European	Sub	806	(A)₁₉=1.000	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
Allele Frequency Aggregator	Latin American 2	Sub	72	(A)₁₉=1.00	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
Allele Frequency Aggregator	African	Sub	34	(A)₁₉=1.00	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
Allele Frequency Aggregator	Other	Sub	30	(A)₁₉=1.00	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
Allele Frequency Aggregator	South Asian	Sub	22	(A)₁₉=1.00	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
Allele Frequency Aggregator	Asian	Sub	18	(A)₁₉=1.00	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
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₁₉=1.0	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

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 20	NC_000020.11:g.13802681_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802682_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802683_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802684_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802685_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802686_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802687_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802688_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802689_13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802690del
GRCh38.p14 chr 20	NC_000020.11:g.13802690dup
GRCh38.p14 chr 20	NC_000020.11:g.13802689_13802690dup
GRCh38.p14 chr 20	NC_000020.11:g.13802688_13802690dup
GRCh38.p14 chr 20	NC_000020.11:g.13802687_13802690dup
GRCh38.p14 chr 20	NC_000020.11:g.13802686_13802690dup
GRCh38.p14 chr 20	NC_000020.11:g.13802685_13802690dup
GRCh38.p14 chr 20	NC_000020.11:g.13802684_13802690dup
GRCh37.p13 chr 20	NC_000020.10:g.13783327_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783328_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783329_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783330_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783331_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783332_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783333_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783334_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783335_13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783336del
GRCh37.p13 chr 20	NC_000020.10:g.13783336dup
GRCh37.p13 chr 20	NC_000020.10:g.13783335_13783336dup
GRCh37.p13 chr 20	NC_000020.10:g.13783334_13783336dup
GRCh37.p13 chr 20	NC_000020.10:g.13783333_13783336dup
GRCh37.p13 chr 20	NC_000020.10:g.13783332_13783336dup
GRCh37.p13 chr 20	NC_000020.10:g.13783331_13783336dup
GRCh37.p13 chr 20	NC_000020.10:g.13783330_13783336dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22656_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22657_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22658_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22659_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22660_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22661_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22662_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22663_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22664_22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22665del
NDUFAF5 RefSeqGene	NG_015811.1:g.22665dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22664_22665dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22663_22665dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22662_22665dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22661_22665dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22660_22665dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22659_22665dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11232_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11233_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11234_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11235_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11236_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11237_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11238_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11239_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11240_11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11241del
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11241dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11240_11241dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11239_11241dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11238_11241dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11237_11241dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11236_11241dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11235_11241dup

Gene: NDUFAF5, NADH:ubiquinone oxidoreductase complex assembly factor 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFAF5 transcript variant 2	NM_001039375.3:c.633+998_… NM_001039375.3:c.633+998_633+1007del	N/A	Intron Variant
NDUFAF5 transcript variant 5	NM_001352403.2:c.246+998_… NM_001352403.2:c.246+998_246+1007del	N/A	Intron Variant
NDUFAF5 transcript variant 6	NM_001352406.2:c.156+998_… NM_001352406.2:c.156+998_156+1007del	N/A	Intron Variant
NDUFAF5 transcript variant 7	NM_001352407.2:c.156+998_… NM_001352407.2:c.156+998_156+1007del	N/A	Intron Variant
NDUFAF5 transcript variant 4	NM_001352408.2:c.30-469_… NM_001352408.2:c.30-469_*30-460del	N/A	Intron Variant
NDUFAF5 transcript variant 1	NM_024120.5:c.717+998_717… NM_024120.5:c.717+998_717+1007del	N/A	Intron Variant
NDUFAF5 transcript variant 3	NR_029377.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant 8	NR_147978.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant 9	NR_147979.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant 10	NR_147980.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant 11	NR_147981.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant 12	NR_147982.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant 13	NR_147983.2:n.	N/A	Intron Variant
NDUFAF5 transcript variant X5	XM_006723624.3:c.246+998_… XM_006723624.3:c.246+998_246+1007del	N/A	Intron Variant
NDUFAF5 transcript variant X2	XM_011529342.3:c.718-469_… XM_011529342.3:c.718-469_718-460del	N/A	Intron Variant
NDUFAF5 transcript variant X1	XM_047440469.1:c.717+998_… XM_047440469.1:c.717+998_717+1007del	N/A	Intron Variant
NDUFAF5 transcript variant X4	XM_047440470.1:c.29+808_… XM_047440470.1:c.29+808_*29+817del	N/A	Intron Variant
NDUFAF5 transcript variant X6	XM_047440471.1:c.246+998_… XM_047440471.1:c.246+998_246+1007del	N/A	Intron Variant
NDUFAF5 transcript variant X7	XM_047440472.1:c.156+998_… XM_047440472.1:c.156+998_156+1007del	N/A	Intron Variant
NDUFAF5 transcript variant X8	XM_047440473.1:c.156+998_… XM_047440473.1:c.156+998_156+1007del	N/A	Intron Variant
NDUFAF5 transcript variant X3	XR_937140.3: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)₁₉=	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇
GRCh38.p14 chr 20	NC_000020.11:g.13802672_13802690=	NC_000020.11:g.13802681_13802690del	NC_000020.11:g.13802682_13802690del	NC_000020.11:g.13802683_13802690del	NC_000020.11:g.13802684_13802690del	NC_000020.11:g.13802685_13802690del	NC_000020.11:g.13802686_13802690del	NC_000020.11:g.13802687_13802690del	NC_000020.11:g.13802688_13802690del	NC_000020.11:g.13802689_13802690del	NC_000020.11:g.13802690del	NC_000020.11:g.13802690dup	NC_000020.11:g.13802689_13802690dup	NC_000020.11:g.13802688_13802690dup	NC_000020.11:g.13802687_13802690dup	NC_000020.11:g.13802686_13802690dup	NC_000020.11:g.13802685_13802690dup	NC_000020.11:g.13802684_13802690dup
GRCh37.p13 chr 20	NC_000020.10:g.13783318_13783336=	NC_000020.10:g.13783327_13783336del	NC_000020.10:g.13783328_13783336del	NC_000020.10:g.13783329_13783336del	NC_000020.10:g.13783330_13783336del	NC_000020.10:g.13783331_13783336del	NC_000020.10:g.13783332_13783336del	NC_000020.10:g.13783333_13783336del	NC_000020.10:g.13783334_13783336del	NC_000020.10:g.13783335_13783336del	NC_000020.10:g.13783336del	NC_000020.10:g.13783336dup	NC_000020.10:g.13783335_13783336dup	NC_000020.10:g.13783334_13783336dup	NC_000020.10:g.13783333_13783336dup	NC_000020.10:g.13783332_13783336dup	NC_000020.10:g.13783331_13783336dup	NC_000020.10:g.13783330_13783336dup
NDUFAF5 RefSeqGene	NG_015811.1:g.22647_22665=	NG_015811.1:g.22656_22665del	NG_015811.1:g.22657_22665del	NG_015811.1:g.22658_22665del	NG_015811.1:g.22659_22665del	NG_015811.1:g.22660_22665del	NG_015811.1:g.22661_22665del	NG_015811.1:g.22662_22665del	NG_015811.1:g.22663_22665del	NG_015811.1:g.22664_22665del	NG_015811.1:g.22665del	NG_015811.1:g.22665dup	NG_015811.1:g.22664_22665dup	NG_015811.1:g.22663_22665dup	NG_015811.1:g.22662_22665dup	NG_015811.1:g.22661_22665dup	NG_015811.1:g.22660_22665dup	NG_015811.1:g.22659_22665dup
GRCh38.p14 chr 20 fix patch HG2225_PATCH	NW_025791811.1:g.11223_11241=	NW_025791811.1:g.11232_11241del	NW_025791811.1:g.11233_11241del	NW_025791811.1:g.11234_11241del	NW_025791811.1:g.11235_11241del	NW_025791811.1:g.11236_11241del	NW_025791811.1:g.11237_11241del	NW_025791811.1:g.11238_11241del	NW_025791811.1:g.11239_11241del	NW_025791811.1:g.11240_11241del	NW_025791811.1:g.11241del	NW_025791811.1:g.11241dup	NW_025791811.1:g.11240_11241dup	NW_025791811.1:g.11239_11241dup	NW_025791811.1:g.11238_11241dup	NW_025791811.1:g.11237_11241dup	NW_025791811.1:g.11236_11241dup	NW_025791811.1:g.11235_11241dup
NDUFAF5 transcript variant 2	NM_001039375.2:c.633+989=	NM_001039375.2:c.633+998_633+1007del	NM_001039375.2:c.633+999_633+1007del	NM_001039375.2:c.633+1000_633+1007del	NM_001039375.2:c.633+1001_633+1007del	NM_001039375.2:c.633+1002_633+1007del	NM_001039375.2:c.633+1003_633+1007del	NM_001039375.2:c.633+1004_633+1007del	NM_001039375.2:c.633+1005_633+1007del	NM_001039375.2:c.633+1006_633+1007del	NM_001039375.2:c.633+1007del	NM_001039375.2:c.633+1007dup	NM_001039375.2:c.633+1006_633+1007dup	NM_001039375.2:c.633+1005_633+1007dup	NM_001039375.2:c.633+1004_633+1007dup	NM_001039375.2:c.633+1003_633+1007dup	NM_001039375.2:c.633+1002_633+1007dup	NM_001039375.2:c.633+1001_633+1007dup
NDUFAF5 transcript variant 2	NM_001039375.3:c.633+989=	NM_001039375.3:c.633+998_633+1007del	NM_001039375.3:c.633+999_633+1007del	NM_001039375.3:c.633+1000_633+1007del	NM_001039375.3:c.633+1001_633+1007del	NM_001039375.3:c.633+1002_633+1007del	NM_001039375.3:c.633+1003_633+1007del	NM_001039375.3:c.633+1004_633+1007del	NM_001039375.3:c.633+1005_633+1007del	NM_001039375.3:c.633+1006_633+1007del	NM_001039375.3:c.633+1007del	NM_001039375.3:c.633+1007dup	NM_001039375.3:c.633+1006_633+1007dup	NM_001039375.3:c.633+1005_633+1007dup	NM_001039375.3:c.633+1004_633+1007dup	NM_001039375.3:c.633+1003_633+1007dup	NM_001039375.3:c.633+1002_633+1007dup	NM_001039375.3:c.633+1001_633+1007dup
NDUFAF5 transcript variant 5	NM_001352403.2:c.246+989=	NM_001352403.2:c.246+998_246+1007del	NM_001352403.2:c.246+999_246+1007del	NM_001352403.2:c.246+1000_246+1007del	NM_001352403.2:c.246+1001_246+1007del	NM_001352403.2:c.246+1002_246+1007del	NM_001352403.2:c.246+1003_246+1007del	NM_001352403.2:c.246+1004_246+1007del	NM_001352403.2:c.246+1005_246+1007del	NM_001352403.2:c.246+1006_246+1007del	NM_001352403.2:c.246+1007del	NM_001352403.2:c.246+1007dup	NM_001352403.2:c.246+1006_246+1007dup	NM_001352403.2:c.246+1005_246+1007dup	NM_001352403.2:c.246+1004_246+1007dup	NM_001352403.2:c.246+1003_246+1007dup	NM_001352403.2:c.246+1002_246+1007dup	NM_001352403.2:c.246+1001_246+1007dup
NDUFAF5 transcript variant 6	NM_001352406.2:c.156+989=	NM_001352406.2:c.156+998_156+1007del	NM_001352406.2:c.156+999_156+1007del	NM_001352406.2:c.156+1000_156+1007del	NM_001352406.2:c.156+1001_156+1007del	NM_001352406.2:c.156+1002_156+1007del	NM_001352406.2:c.156+1003_156+1007del	NM_001352406.2:c.156+1004_156+1007del	NM_001352406.2:c.156+1005_156+1007del	NM_001352406.2:c.156+1006_156+1007del	NM_001352406.2:c.156+1007del	NM_001352406.2:c.156+1007dup	NM_001352406.2:c.156+1006_156+1007dup	NM_001352406.2:c.156+1005_156+1007dup	NM_001352406.2:c.156+1004_156+1007dup	NM_001352406.2:c.156+1003_156+1007dup	NM_001352406.2:c.156+1002_156+1007dup	NM_001352406.2:c.156+1001_156+1007dup
NDUFAF5 transcript variant 7	NM_001352407.2:c.156+989=	NM_001352407.2:c.156+998_156+1007del	NM_001352407.2:c.156+999_156+1007del	NM_001352407.2:c.156+1000_156+1007del	NM_001352407.2:c.156+1001_156+1007del	NM_001352407.2:c.156+1002_156+1007del	NM_001352407.2:c.156+1003_156+1007del	NM_001352407.2:c.156+1004_156+1007del	NM_001352407.2:c.156+1005_156+1007del	NM_001352407.2:c.156+1006_156+1007del	NM_001352407.2:c.156+1007del	NM_001352407.2:c.156+1007dup	NM_001352407.2:c.156+1006_156+1007dup	NM_001352407.2:c.156+1005_156+1007dup	NM_001352407.2:c.156+1004_156+1007dup	NM_001352407.2:c.156+1003_156+1007dup	NM_001352407.2:c.156+1002_156+1007dup	NM_001352407.2:c.156+1001_156+1007dup
NDUFAF5 transcript variant 4	NM_001352408.2:c.*30-478=	NM_001352408.2:c.30-469_30-460del	NM_001352408.2:c.30-468_30-460del	NM_001352408.2:c.30-467_30-460del	NM_001352408.2:c.30-466_30-460del	NM_001352408.2:c.30-465_30-460del	NM_001352408.2:c.30-464_30-460del	NM_001352408.2:c.30-463_30-460del	NM_001352408.2:c.30-462_30-460del	NM_001352408.2:c.30-461_30-460del	NM_001352408.2:c.*30-460del	NM_001352408.2:c.*30-460dup	NM_001352408.2:c.30-461_30-460dup	NM_001352408.2:c.30-462_30-460dup	NM_001352408.2:c.30-463_30-460dup	NM_001352408.2:c.30-464_30-460dup	NM_001352408.2:c.30-465_30-460dup	NM_001352408.2:c.30-466_30-460dup
NDUFAF5 transcript variant 1	NM_024120.4:c.717+989=	NM_024120.4:c.717+998_717+1007del	NM_024120.4:c.717+999_717+1007del	NM_024120.4:c.717+1000_717+1007del	NM_024120.4:c.717+1001_717+1007del	NM_024120.4:c.717+1002_717+1007del	NM_024120.4:c.717+1003_717+1007del	NM_024120.4:c.717+1004_717+1007del	NM_024120.4:c.717+1005_717+1007del	NM_024120.4:c.717+1006_717+1007del	NM_024120.4:c.717+1007del	NM_024120.4:c.717+1007dup	NM_024120.4:c.717+1006_717+1007dup	NM_024120.4:c.717+1005_717+1007dup	NM_024120.4:c.717+1004_717+1007dup	NM_024120.4:c.717+1003_717+1007dup	NM_024120.4:c.717+1002_717+1007dup	NM_024120.4:c.717+1001_717+1007dup
NDUFAF5 transcript variant 1	NM_024120.5:c.717+989=	NM_024120.5:c.717+998_717+1007del	NM_024120.5:c.717+999_717+1007del	NM_024120.5:c.717+1000_717+1007del	NM_024120.5:c.717+1001_717+1007del	NM_024120.5:c.717+1002_717+1007del	NM_024120.5:c.717+1003_717+1007del	NM_024120.5:c.717+1004_717+1007del	NM_024120.5:c.717+1005_717+1007del	NM_024120.5:c.717+1006_717+1007del	NM_024120.5:c.717+1007del	NM_024120.5:c.717+1007dup	NM_024120.5:c.717+1006_717+1007dup	NM_024120.5:c.717+1005_717+1007dup	NM_024120.5:c.717+1004_717+1007dup	NM_024120.5:c.717+1003_717+1007dup	NM_024120.5:c.717+1002_717+1007dup	NM_024120.5:c.717+1001_717+1007dup
NDUFAF5 transcript variant X5	XM_006723624.3:c.246+989=	XM_006723624.3:c.246+998_246+1007del	XM_006723624.3:c.246+999_246+1007del	XM_006723624.3:c.246+1000_246+1007del	XM_006723624.3:c.246+1001_246+1007del	XM_006723624.3:c.246+1002_246+1007del	XM_006723624.3:c.246+1003_246+1007del	XM_006723624.3:c.246+1004_246+1007del	XM_006723624.3:c.246+1005_246+1007del	XM_006723624.3:c.246+1006_246+1007del	XM_006723624.3:c.246+1007del	XM_006723624.3:c.246+1007dup	XM_006723624.3:c.246+1006_246+1007dup	XM_006723624.3:c.246+1005_246+1007dup	XM_006723624.3:c.246+1004_246+1007dup	XM_006723624.3:c.246+1003_246+1007dup	XM_006723624.3:c.246+1002_246+1007dup	XM_006723624.3:c.246+1001_246+1007dup
NDUFAF5 transcript variant X2	XM_011529342.3:c.718-478=	XM_011529342.3:c.718-469_718-460del	XM_011529342.3:c.718-468_718-460del	XM_011529342.3:c.718-467_718-460del	XM_011529342.3:c.718-466_718-460del	XM_011529342.3:c.718-465_718-460del	XM_011529342.3:c.718-464_718-460del	XM_011529342.3:c.718-463_718-460del	XM_011529342.3:c.718-462_718-460del	XM_011529342.3:c.718-461_718-460del	XM_011529342.3:c.718-460del	XM_011529342.3:c.718-460dup	XM_011529342.3:c.718-461_718-460dup	XM_011529342.3:c.718-462_718-460dup	XM_011529342.3:c.718-463_718-460dup	XM_011529342.3:c.718-464_718-460dup	XM_011529342.3:c.718-465_718-460dup	XM_011529342.3:c.718-466_718-460dup
NDUFAF5 transcript variant X1	XM_047440469.1:c.717+989=	XM_047440469.1:c.717+998_717+1007del	XM_047440469.1:c.717+999_717+1007del	XM_047440469.1:c.717+1000_717+1007del	XM_047440469.1:c.717+1001_717+1007del	XM_047440469.1:c.717+1002_717+1007del	XM_047440469.1:c.717+1003_717+1007del	XM_047440469.1:c.717+1004_717+1007del	XM_047440469.1:c.717+1005_717+1007del	XM_047440469.1:c.717+1006_717+1007del	XM_047440469.1:c.717+1007del	XM_047440469.1:c.717+1007dup	XM_047440469.1:c.717+1006_717+1007dup	XM_047440469.1:c.717+1005_717+1007dup	XM_047440469.1:c.717+1004_717+1007dup	XM_047440469.1:c.717+1003_717+1007dup	XM_047440469.1:c.717+1002_717+1007dup	XM_047440469.1:c.717+1001_717+1007dup
NDUFAF5 transcript variant X4	XM_047440470.1:c.*29+799=	XM_047440470.1:c.29+808_29+817del	XM_047440470.1:c.29+809_29+817del	XM_047440470.1:c.29+810_29+817del	XM_047440470.1:c.29+811_29+817del	XM_047440470.1:c.29+812_29+817del	XM_047440470.1:c.29+813_29+817del	XM_047440470.1:c.29+814_29+817del	XM_047440470.1:c.29+815_29+817del	XM_047440470.1:c.29+816_29+817del	XM_047440470.1:c.*29+817del	XM_047440470.1:c.*29+817dup	XM_047440470.1:c.29+816_29+817dup	XM_047440470.1:c.29+815_29+817dup	XM_047440470.1:c.29+814_29+817dup	XM_047440470.1:c.29+813_29+817dup	XM_047440470.1:c.29+812_29+817dup	XM_047440470.1:c.29+811_29+817dup
NDUFAF5 transcript variant X6	XM_047440471.1:c.246+989=	XM_047440471.1:c.246+998_246+1007del	XM_047440471.1:c.246+999_246+1007del	XM_047440471.1:c.246+1000_246+1007del	XM_047440471.1:c.246+1001_246+1007del	XM_047440471.1:c.246+1002_246+1007del	XM_047440471.1:c.246+1003_246+1007del	XM_047440471.1:c.246+1004_246+1007del	XM_047440471.1:c.246+1005_246+1007del	XM_047440471.1:c.246+1006_246+1007del	XM_047440471.1:c.246+1007del	XM_047440471.1:c.246+1007dup	XM_047440471.1:c.246+1006_246+1007dup	XM_047440471.1:c.246+1005_246+1007dup	XM_047440471.1:c.246+1004_246+1007dup	XM_047440471.1:c.246+1003_246+1007dup	XM_047440471.1:c.246+1002_246+1007dup	XM_047440471.1:c.246+1001_246+1007dup
NDUFAF5 transcript variant X7	XM_047440472.1:c.156+989=	XM_047440472.1:c.156+998_156+1007del	XM_047440472.1:c.156+999_156+1007del	XM_047440472.1:c.156+1000_156+1007del	XM_047440472.1:c.156+1001_156+1007del	XM_047440472.1:c.156+1002_156+1007del	XM_047440472.1:c.156+1003_156+1007del	XM_047440472.1:c.156+1004_156+1007del	XM_047440472.1:c.156+1005_156+1007del	XM_047440472.1:c.156+1006_156+1007del	XM_047440472.1:c.156+1007del	XM_047440472.1:c.156+1007dup	XM_047440472.1:c.156+1006_156+1007dup	XM_047440472.1:c.156+1005_156+1007dup	XM_047440472.1:c.156+1004_156+1007dup	XM_047440472.1:c.156+1003_156+1007dup	XM_047440472.1:c.156+1002_156+1007dup	XM_047440472.1:c.156+1001_156+1007dup
NDUFAF5 transcript variant X8	XM_047440473.1:c.156+989=	XM_047440473.1:c.156+998_156+1007del	XM_047440473.1:c.156+999_156+1007del	XM_047440473.1:c.156+1000_156+1007del	XM_047440473.1:c.156+1001_156+1007del	XM_047440473.1:c.156+1002_156+1007del	XM_047440473.1:c.156+1003_156+1007del	XM_047440473.1:c.156+1004_156+1007del	XM_047440473.1:c.156+1005_156+1007del	XM_047440473.1:c.156+1006_156+1007del	XM_047440473.1:c.156+1007del	XM_047440473.1:c.156+1007dup	XM_047440473.1:c.156+1006_156+1007dup	XM_047440473.1:c.156+1005_156+1007dup	XM_047440473.1:c.156+1004_156+1007dup	XM_047440473.1:c.156+1003_156+1007dup	XM_047440473.1:c.156+1002_156+1007dup	XM_047440473.1:c.156+1001_156+1007dup

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#.

63 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80055340	Oct 12, 2018 (152)
2	HGSV	ss82032021	Oct 12, 2018 (152)
3	HGSV	ss82074688	Oct 12, 2018 (152)
4	PJP	ss295040236	May 09, 2011 (137)
5	PJP	ss295040238	May 09, 2011 (137)
6	TISHKOFF	ss554976013	Apr 25, 2013 (138)
7	BILGI_BIOE	ss666740806	Apr 25, 2013 (138)
8	EVA_UK10K_ALSPAC	ss1709304182	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1709304183	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1709305498	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1709305501	Apr 01, 2015 (144)
12	SYSTEMSBIOZJU	ss2629405668	Nov 08, 2017 (151)
13	SWEGEN	ss3017908292	Nov 08, 2017 (151)
14	SWEGEN	ss3017908293	Nov 08, 2017 (151)
15	MCHAISSO	ss3063991042	Nov 08, 2017 (151)
16	MCHAISSO	ss3064847406	Nov 08, 2017 (151)
17	MCHAISSO	ss3065809040	Nov 08, 2017 (151)
18	URBANLAB	ss3650976950	Oct 12, 2018 (152)
19	EVA_DECODE	ss3706608251	Jul 13, 2019 (153)
20	EVA_DECODE	ss3706608252	Jul 13, 2019 (153)
21	EVA_DECODE	ss3706608253	Jul 13, 2019 (153)
22	EVA_DECODE	ss3706608254	Jul 13, 2019 (153)
23	EVA_DECODE	ss3706608255	Jul 13, 2019 (153)
24	INMEGENXS	ss3745644481	Jul 13, 2019 (153)
25	PACBIO	ss3793505489	Jul 13, 2019 (153)
26	PACBIO	ss3798392650	Jul 13, 2019 (153)
27	EVA	ss3835601112	Apr 27, 2020 (154)
28	GNOMAD	ss4335492042	Apr 26, 2021 (155)
29	GNOMAD	ss4335492043	Apr 26, 2021 (155)
30	GNOMAD	ss4335492044	Apr 26, 2021 (155)
31	GNOMAD	ss4335492045	Apr 26, 2021 (155)
32	GNOMAD	ss4335492046	Apr 26, 2021 (155)
33	GNOMAD	ss4335492047	Apr 26, 2021 (155)
34	GNOMAD	ss4335492048	Apr 26, 2021 (155)
35	GNOMAD	ss4335492049	Apr 26, 2021 (155)
36	GNOMAD	ss4335492050	Apr 26, 2021 (155)
37	GNOMAD	ss4335492051	Apr 26, 2021 (155)
38	GNOMAD	ss4335492052	Apr 26, 2021 (155)
39	GNOMAD	ss4335492053	Apr 26, 2021 (155)
40	GNOMAD	ss4335492054	Apr 26, 2021 (155)
41	GNOMAD	ss4335492055	Apr 26, 2021 (155)
42	GNOMAD	ss4335492056	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5228950009	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5228950010	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5228950011	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5228950012	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5228950013	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5308171766	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5308171767	Oct 17, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5308171768	Oct 17, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5308171769	Oct 17, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5308171770	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5500563836	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5500563837	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5500563838	Oct 17, 2022 (156)
56	HUGCELL_USP	ss5500563839	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5787967316	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5787967317	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5787967318	Oct 17, 2022 (156)
60	TOMMO_GENOMICS	ss5787967319	Oct 17, 2022 (156)
61	TOMMO_GENOMICS	ss5787967321	Oct 17, 2022 (156)
62	EVA	ss5845479589	Oct 17, 2022 (156)
63	EVA	ss5845479590	Oct 17, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42964486 (NC_000020.10:13783317::AAA 3043/3854) Row 42964487 (NC_000020.10:13783317::AA 800/3854)	-	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 42964486 (NC_000020.10:13783317::AAA 3043/3854) Row 42964487 (NC_000020.10:13783317::AA 800/3854)	-	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 547193577 (NC_000020.11:13802671::A 53722/94298) Row 547193578 (NC_000020.11:13802671::AA 16873/94264) Row 547193579 (NC_000020.11:13802671::AAA 74/94732)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 86919316 (NC_000020.10:13783317::A 3841/16254) Row 86919317 (NC_000020.10:13783317::AA 5302/16254) Row 86919318 (NC_000020.10:13783317:AAAAAAA: 27/16254)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 86919316 (NC_000020.10:13783317::A 3841/16254) Row 86919317 (NC_000020.10:13783317::AA 5302/16254) Row 86919318 (NC_000020.10:13783317:AAAAAAA: 27/16254)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 86919316 (NC_000020.10:13783317::A 3841/16254) Row 86919317 (NC_000020.10:13783317::AA 5302/16254) Row 86919318 (NC_000020.10:13783317:AAAAAAA: 27/16254)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 86919316 (NC_000020.10:13783317::A 3841/16254) Row 86919317 (NC_000020.10:13783317::AA 5302/16254) Row 86919318 (NC_000020.10:13783317:AAAAAAA: 27/16254)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 86919316 (NC_000020.10:13783317::A 3841/16254) Row 86919317 (NC_000020.10:13783317::AA 5302/16254) Row 86919318 (NC_000020.10:13783317:AAAAAAA: 27/16254)...	-	Apr 26, 2021 (155)
86	14KJPN Submission ignored due to conflicting rows: Row 121804420 (NC_000020.11:13802671::A 7228/28182) Row 121804421 (NC_000020.11:13802671::AA 9914/28182) Row 121804422 (NC_000020.11:13802671:AAAAAAA: 38/28182)...	-	Oct 17, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 121804420 (NC_000020.11:13802671::A 7228/28182) Row 121804421 (NC_000020.11:13802671::AA 9914/28182) Row 121804422 (NC_000020.11:13802671:AAAAAAA: 38/28182)...	-	Oct 17, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 121804420 (NC_000020.11:13802671::A 7228/28182) Row 121804421 (NC_000020.11:13802671::AA 9914/28182) Row 121804422 (NC_000020.11:13802671:AAAAAAA: 38/28182)...	-	Oct 17, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 121804420 (NC_000020.11:13802671::A 7228/28182) Row 121804421 (NC_000020.11:13802671::AA 9914/28182) Row 121804422 (NC_000020.11:13802671:AAAAAAA: 38/28182)...	-	Oct 17, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 121804420 (NC_000020.11:13802671::A 7228/28182) Row 121804421 (NC_000020.11:13802671::AA 9914/28182) Row 121804422 (NC_000020.11:13802671:AAAAAAA: 38/28182)...	-	Oct 17, 2022 (156)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42964486 (NC_000020.10:13783317::AAA 2882/3708) Row 42964487 (NC_000020.10:13783317::AA 820/3708)	-	Oct 12, 2018 (152)
92	UK 10K study - Twins Submission ignored due to conflicting rows: Row 42964486 (NC_000020.10:13783317::AAA 2882/3708) Row 42964487 (NC_000020.10:13783317::AA 820/3708)	-	Oct 12, 2018 (152)
93	ALFA	NC_000020.11 - 13802672	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).

Associated ID	History Updated (Build)
rs71959916	May 11, 2012 (137)
rs148513406	May 11, 2012 (137)
rs151065121	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss554976013	NC_000020.10:13783327:AAAAAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4335492056	NC_000020.11:13802671:AAAAAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4335492055	NC_000020.11:13802671:AAAAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3745644481, ss5228950011	NC_000020.10:13783317:AAAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4335492054, ss5308171769, ss5500563839, ss5787967318	NC_000020.11:13802671:AAAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5228950013	NC_000020.10:13783317:AAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4335492053	NC_000020.11:13802671:AAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4335492052	NC_000020.11:13802671:AAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4335492051	NC_000020.11:13802671:AAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3706608255, ss4335492050	NC_000020.11:13802671:AA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4335492049, ss5308171770, ss5500563838	NC_000020.11:13802671:A:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3706608254	NC_000020.11:13802672:A:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss295040236	NC_000020.9:13731318::A	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss295040238	NC_000020.9:13731336::A	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss666740806, ss3017908292, ss3793505489, ss3798392650, ss3835601112, ss5228950009	NC_000020.10:13783317::A	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3063991042, ss3064847406, ss3065809040, ss4335492042, ss5308171766, ss5500563836, ss5787967316	NC_000020.11:13802671::A	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3706608253	NC_000020.11:13802673::A	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss80055340, ss82032021, ss82074688	NT_011387.8:13723336::A	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1709304183, ss1709305501, ss2629405668, ss3017908293, ss5228950010, ss5845479590	NC_000020.10:13783317::AA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3650976950, ss4335492043, ss5308171767, ss5500563837, ss5787967317	NC_000020.11:13802671::AA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3706608252	NC_000020.11:13802673::AA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1709304182, ss1709305498, ss5228950012, ss5845479589	NC_000020.10:13783317::AAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335492044, ss5308171768, ss5787967319	NC_000020.11:13802671::AAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3706608251	NC_000020.11:13802673::AAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335492045, ss5787967321	NC_000020.11:13802671::AAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
624201334	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335492046	NC_000020.11:13802671::AAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335492047	NC_000020.11:13802671::AAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4335492048	NC_000020.11:13802671::AAAAAAA	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3355566126	NC_000020.11:13802671:AAAAAAAAAA:	NC_000020.11:13802671:AAAAAAAAAAAA… NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA

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

No publications for rs11472201

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

rs11472201