Name: rs71063899
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.

rs71063899

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:54044342-54044360 (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)₉ / del(A)₈ / del(A)₇ / del(…
del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₉=0.0000 (0/4394, ALFA)
del(A)₈=0.0000 (0/4394, ALFA)
del(A)₇=0.0000 (0/4394, ALFA) (+ 15 more)
del(A)₆=0.0000 (0/4394, ALFA)
del(A)₅=0.0000 (0/4394, ALFA)
del(A)₄=0.0000 (0/4394, ALFA)
delAAA=0.0000 (0/4394, ALFA)
delAA=0.0000 (0/4394, ALFA)
delA=0.0000 (0/4394, ALFA)
dupA=0.0000 (0/4394, ALFA)
dupAA=0.0000 (0/4394, ALFA)
dupAAA=0.0000 (0/4394, ALFA)
dup(A)₅=0.0000 (0/4394, ALFA)
dup(A)₆=0.0000 (0/4394, ALFA)
dup(A)₇=0.0000 (0/4394, ALFA)
dup(A)₈=0.0000 (0/4394, ALFA)
dup(A)₉=0.0000 (0/4394, ALFA)
dup(A)₁₀=0.0000 (0/4394, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM59 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	4394	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	1774	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	2076	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	100	AAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1976	AAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	42	AAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	34	AAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	48	AAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	240	AAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	30	AAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	184	AAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	4394	(A)₁₉=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000, dup(A)₁₀=0.0000
Allele Frequency Aggregator	African	Sub	2076	(A)₁₉=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000, dup(A)₁₀=0.0000
Allele Frequency Aggregator	European	Sub	1774	(A)₁₉=1.0000	del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000, dup(A)₇=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000, dup(A)₁₀=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	240	(A)₁₉=1.000	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)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	Other	Sub	184	(A)₁₉=1.000	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)₅=0.000, dup(A)₆=0.000, dup(A)₇=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	Latin American 1	Sub	48	(A)₁₉=1.00	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)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00
Allele Frequency Aggregator	Asian	Sub	42	(A)₁₉=1.00	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)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(A)₁₉=1.00	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)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₀=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 1	NC_000001.11:g.54044352_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044353_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044354_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044355_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044356_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044357_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044358_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044359_54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044360del
GRCh38.p14 chr 1	NC_000001.11:g.54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044359_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044358_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044357_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044356_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044355_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044354_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044353_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044352_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044351_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044350_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044349_54044360dup
GRCh38.p14 chr 1	NC_000001.11:g.54044346_54044360dup
GRCh37.p13 chr 1	NC_000001.10:g.54510025_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510026_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510027_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510028_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510029_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510030_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510031_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510032_54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510033del
GRCh37.p13 chr 1	NC_000001.10:g.54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510032_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510031_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510030_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510029_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510028_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510027_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510026_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510025_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510024_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510023_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510022_54510033dup
GRCh37.p13 chr 1	NC_000001.10:g.54510019_54510033dup

Gene: TMEM59, transmembrane protein 59 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM59 transcript variant 1	NM_001305043.2:c.391-825_… NM_001305043.2:c.391-825_391-817del	N/A	Intron Variant
TMEM59 transcript variant 3	NM_001305049.1:c.-3-825_-… NM_001305049.1:c.-3-825_-3-817del	N/A	Intron Variant
TMEM59 transcript variant 4	NM_001305050.2:c.190-825_… NM_001305050.2:c.190-825_190-817del	N/A	Intron Variant
TMEM59 transcript variant 6	NM_001305051.1:c.-3-825_-… NM_001305051.1:c.-3-825_-3-817del	N/A	Intron Variant
TMEM59 transcript variant 7	NM_001305052.1:c.-3-825_-… NM_001305052.1:c.-3-825_-3-817del	N/A	Intron Variant
TMEM59 transcript variant 2	NM_004872.5:c.391-825_391… NM_004872.5:c.391-825_391-817del	N/A	Intron Variant
TMEM59 transcript variant 5	NM_001305066.2:c.	N/A	Genic Downstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(A)₁₉=	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₅
GRCh38.p14 chr 1	NC_000001.11:g.54044342_54044360=	NC_000001.11:g.54044352_54044360del	NC_000001.11:g.54044353_54044360del	NC_000001.11:g.54044354_54044360del	NC_000001.11:g.54044355_54044360del	NC_000001.11:g.54044356_54044360del	NC_000001.11:g.54044357_54044360del	NC_000001.11:g.54044358_54044360del	NC_000001.11:g.54044359_54044360del	NC_000001.11:g.54044360del	NC_000001.11:g.54044360dup	NC_000001.11:g.54044359_54044360dup	NC_000001.11:g.54044358_54044360dup	NC_000001.11:g.54044357_54044360dup	NC_000001.11:g.54044356_54044360dup	NC_000001.11:g.54044355_54044360dup	NC_000001.11:g.54044354_54044360dup	NC_000001.11:g.54044353_54044360dup	NC_000001.11:g.54044352_54044360dup	NC_000001.11:g.54044351_54044360dup	NC_000001.11:g.54044350_54044360dup	NC_000001.11:g.54044349_54044360dup	NC_000001.11:g.54044346_54044360dup
GRCh37.p13 chr 1	NC_000001.10:g.54510015_54510033=	NC_000001.10:g.54510025_54510033del	NC_000001.10:g.54510026_54510033del	NC_000001.10:g.54510027_54510033del	NC_000001.10:g.54510028_54510033del	NC_000001.10:g.54510029_54510033del	NC_000001.10:g.54510030_54510033del	NC_000001.10:g.54510031_54510033del	NC_000001.10:g.54510032_54510033del	NC_000001.10:g.54510033del	NC_000001.10:g.54510033dup	NC_000001.10:g.54510032_54510033dup	NC_000001.10:g.54510031_54510033dup	NC_000001.10:g.54510030_54510033dup	NC_000001.10:g.54510029_54510033dup	NC_000001.10:g.54510028_54510033dup	NC_000001.10:g.54510027_54510033dup	NC_000001.10:g.54510026_54510033dup	NC_000001.10:g.54510025_54510033dup	NC_000001.10:g.54510024_54510033dup	NC_000001.10:g.54510023_54510033dup	NC_000001.10:g.54510022_54510033dup	NC_000001.10:g.54510019_54510033dup
TMEM59 transcript variant 1	NM_001305043.2:c.391-817=	NM_001305043.2:c.391-825_391-817del	NM_001305043.2:c.391-824_391-817del	NM_001305043.2:c.391-823_391-817del	NM_001305043.2:c.391-822_391-817del	NM_001305043.2:c.391-821_391-817del	NM_001305043.2:c.391-820_391-817del	NM_001305043.2:c.391-819_391-817del	NM_001305043.2:c.391-818_391-817del	NM_001305043.2:c.391-817del	NM_001305043.2:c.391-817dup	NM_001305043.2:c.391-818_391-817dup	NM_001305043.2:c.391-819_391-817dup	NM_001305043.2:c.391-820_391-817dup	NM_001305043.2:c.391-821_391-817dup	NM_001305043.2:c.391-822_391-817dup	NM_001305043.2:c.391-823_391-817dup	NM_001305043.2:c.391-824_391-817dup	NM_001305043.2:c.391-825_391-817dup	NM_001305043.2:c.391-826_391-817dup	NM_001305043.2:c.391-827_391-817dup	NM_001305043.2:c.391-828_391-817dup	NM_001305043.2:c.391-831_391-817dup
TMEM59 transcript variant 3	NM_001305049.1:c.-3-817=	NM_001305049.1:c.-3-825_-3-817del	NM_001305049.1:c.-3-824_-3-817del	NM_001305049.1:c.-3-823_-3-817del	NM_001305049.1:c.-3-822_-3-817del	NM_001305049.1:c.-3-821_-3-817del	NM_001305049.1:c.-3-820_-3-817del	NM_001305049.1:c.-3-819_-3-817del	NM_001305049.1:c.-3-818_-3-817del	NM_001305049.1:c.-3-817del	NM_001305049.1:c.-3-817dup	NM_001305049.1:c.-3-818_-3-817dup	NM_001305049.1:c.-3-819_-3-817dup	NM_001305049.1:c.-3-820_-3-817dup	NM_001305049.1:c.-3-821_-3-817dup	NM_001305049.1:c.-3-822_-3-817dup	NM_001305049.1:c.-3-823_-3-817dup	NM_001305049.1:c.-3-824_-3-817dup	NM_001305049.1:c.-3-825_-3-817dup	NM_001305049.1:c.-3-826_-3-817dup	NM_001305049.1:c.-3-827_-3-817dup	NM_001305049.1:c.-3-828_-3-817dup	NM_001305049.1:c.-3-831_-3-817dup
TMEM59 transcript variant 4	NM_001305050.2:c.190-817=	NM_001305050.2:c.190-825_190-817del	NM_001305050.2:c.190-824_190-817del	NM_001305050.2:c.190-823_190-817del	NM_001305050.2:c.190-822_190-817del	NM_001305050.2:c.190-821_190-817del	NM_001305050.2:c.190-820_190-817del	NM_001305050.2:c.190-819_190-817del	NM_001305050.2:c.190-818_190-817del	NM_001305050.2:c.190-817del	NM_001305050.2:c.190-817dup	NM_001305050.2:c.190-818_190-817dup	NM_001305050.2:c.190-819_190-817dup	NM_001305050.2:c.190-820_190-817dup	NM_001305050.2:c.190-821_190-817dup	NM_001305050.2:c.190-822_190-817dup	NM_001305050.2:c.190-823_190-817dup	NM_001305050.2:c.190-824_190-817dup	NM_001305050.2:c.190-825_190-817dup	NM_001305050.2:c.190-826_190-817dup	NM_001305050.2:c.190-827_190-817dup	NM_001305050.2:c.190-828_190-817dup	NM_001305050.2:c.190-831_190-817dup
TMEM59 transcript variant 6	NM_001305051.1:c.-3-817=	NM_001305051.1:c.-3-825_-3-817del	NM_001305051.1:c.-3-824_-3-817del	NM_001305051.1:c.-3-823_-3-817del	NM_001305051.1:c.-3-822_-3-817del	NM_001305051.1:c.-3-821_-3-817del	NM_001305051.1:c.-3-820_-3-817del	NM_001305051.1:c.-3-819_-3-817del	NM_001305051.1:c.-3-818_-3-817del	NM_001305051.1:c.-3-817del	NM_001305051.1:c.-3-817dup	NM_001305051.1:c.-3-818_-3-817dup	NM_001305051.1:c.-3-819_-3-817dup	NM_001305051.1:c.-3-820_-3-817dup	NM_001305051.1:c.-3-821_-3-817dup	NM_001305051.1:c.-3-822_-3-817dup	NM_001305051.1:c.-3-823_-3-817dup	NM_001305051.1:c.-3-824_-3-817dup	NM_001305051.1:c.-3-825_-3-817dup	NM_001305051.1:c.-3-826_-3-817dup	NM_001305051.1:c.-3-827_-3-817dup	NM_001305051.1:c.-3-828_-3-817dup	NM_001305051.1:c.-3-831_-3-817dup
TMEM59 transcript variant 7	NM_001305052.1:c.-3-817=	NM_001305052.1:c.-3-825_-3-817del	NM_001305052.1:c.-3-824_-3-817del	NM_001305052.1:c.-3-823_-3-817del	NM_001305052.1:c.-3-822_-3-817del	NM_001305052.1:c.-3-821_-3-817del	NM_001305052.1:c.-3-820_-3-817del	NM_001305052.1:c.-3-819_-3-817del	NM_001305052.1:c.-3-818_-3-817del	NM_001305052.1:c.-3-817del	NM_001305052.1:c.-3-817dup	NM_001305052.1:c.-3-818_-3-817dup	NM_001305052.1:c.-3-819_-3-817dup	NM_001305052.1:c.-3-820_-3-817dup	NM_001305052.1:c.-3-821_-3-817dup	NM_001305052.1:c.-3-822_-3-817dup	NM_001305052.1:c.-3-823_-3-817dup	NM_001305052.1:c.-3-824_-3-817dup	NM_001305052.1:c.-3-825_-3-817dup	NM_001305052.1:c.-3-826_-3-817dup	NM_001305052.1:c.-3-827_-3-817dup	NM_001305052.1:c.-3-828_-3-817dup	NM_001305052.1:c.-3-831_-3-817dup
TMEM59 transcript	NM_004872.3:c.391-817=	NM_004872.3:c.391-825_391-817del	NM_004872.3:c.391-824_391-817del	NM_004872.3:c.391-823_391-817del	NM_004872.3:c.391-822_391-817del	NM_004872.3:c.391-821_391-817del	NM_004872.3:c.391-820_391-817del	NM_004872.3:c.391-819_391-817del	NM_004872.3:c.391-818_391-817del	NM_004872.3:c.391-817del	NM_004872.3:c.391-817dup	NM_004872.3:c.391-818_391-817dup	NM_004872.3:c.391-819_391-817dup	NM_004872.3:c.391-820_391-817dup	NM_004872.3:c.391-821_391-817dup	NM_004872.3:c.391-822_391-817dup	NM_004872.3:c.391-823_391-817dup	NM_004872.3:c.391-824_391-817dup	NM_004872.3:c.391-825_391-817dup	NM_004872.3:c.391-826_391-817dup	NM_004872.3:c.391-827_391-817dup	NM_004872.3:c.391-828_391-817dup	NM_004872.3:c.391-831_391-817dup
TMEM59 transcript variant 2	NM_004872.5:c.391-817=	NM_004872.5:c.391-825_391-817del	NM_004872.5:c.391-824_391-817del	NM_004872.5:c.391-823_391-817del	NM_004872.5:c.391-822_391-817del	NM_004872.5:c.391-821_391-817del	NM_004872.5:c.391-820_391-817del	NM_004872.5:c.391-819_391-817del	NM_004872.5:c.391-818_391-817del	NM_004872.5:c.391-817del	NM_004872.5:c.391-817dup	NM_004872.5:c.391-818_391-817dup	NM_004872.5:c.391-819_391-817dup	NM_004872.5:c.391-820_391-817dup	NM_004872.5:c.391-821_391-817dup	NM_004872.5:c.391-822_391-817dup	NM_004872.5:c.391-823_391-817dup	NM_004872.5:c.391-824_391-817dup	NM_004872.5:c.391-825_391-817dup	NM_004872.5:c.391-826_391-817dup	NM_004872.5:c.391-827_391-817dup	NM_004872.5:c.391-828_391-817dup	NM_004872.5:c.391-831_391-817dup
TMEM59 transcript variant X1	XM_005271350.1:c.391-817=	XM_005271350.1:c.391-825_391-817del	XM_005271350.1:c.391-824_391-817del	XM_005271350.1:c.391-823_391-817del	XM_005271350.1:c.391-822_391-817del	XM_005271350.1:c.391-821_391-817del	XM_005271350.1:c.391-820_391-817del	XM_005271350.1:c.391-819_391-817del	XM_005271350.1:c.391-818_391-817del	XM_005271350.1:c.391-817del	XM_005271350.1:c.391-817dup	XM_005271350.1:c.391-818_391-817dup	XM_005271350.1:c.391-819_391-817dup	XM_005271350.1:c.391-820_391-817dup	XM_005271350.1:c.391-821_391-817dup	XM_005271350.1:c.391-822_391-817dup	XM_005271350.1:c.391-823_391-817dup	XM_005271350.1:c.391-824_391-817dup	XM_005271350.1:c.391-825_391-817dup	XM_005271350.1:c.391-826_391-817dup	XM_005271350.1:c.391-827_391-817dup	XM_005271350.1:c.391-828_391-817dup	XM_005271350.1:c.391-831_391-817dup
TMEM59 transcript variant X2	XM_005271351.1:c.190-817=	XM_005271351.1:c.190-825_190-817del	XM_005271351.1:c.190-824_190-817del	XM_005271351.1:c.190-823_190-817del	XM_005271351.1:c.190-822_190-817del	XM_005271351.1:c.190-821_190-817del	XM_005271351.1:c.190-820_190-817del	XM_005271351.1:c.190-819_190-817del	XM_005271351.1:c.190-818_190-817del	XM_005271351.1:c.190-817del	XM_005271351.1:c.190-817dup	XM_005271351.1:c.190-818_190-817dup	XM_005271351.1:c.190-819_190-817dup	XM_005271351.1:c.190-820_190-817dup	XM_005271351.1:c.190-821_190-817dup	XM_005271351.1:c.190-822_190-817dup	XM_005271351.1:c.190-823_190-817dup	XM_005271351.1:c.190-824_190-817dup	XM_005271351.1:c.190-825_190-817dup	XM_005271351.1:c.190-826_190-817dup	XM_005271351.1:c.190-827_190-817dup	XM_005271351.1:c.190-828_190-817dup	XM_005271351.1:c.190-831_190-817dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

40 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95229362	Feb 13, 2009 (130)
2	SSIP	ss947020212	Aug 21, 2014 (142)
3	DDI	ss1536227777	Apr 01, 2015 (144)
4	EVA_DECODE	ss3686757488	Jul 12, 2019 (153)
5	EVA_DECODE	ss3686757489	Jul 12, 2019 (153)
6	EVA_DECODE	ss3686757490	Jul 12, 2019 (153)
7	EVA_DECODE	ss3686757491	Jul 12, 2019 (153)
8	EVA_DECODE	ss3686757492	Jul 12, 2019 (153)
9	GNOMAD	ss3993551845	Apr 25, 2021 (155)
10	GNOMAD	ss3993551846	Apr 25, 2021 (155)
11	GNOMAD	ss3993551847	Apr 25, 2021 (155)
12	GNOMAD	ss3993551848	Apr 25, 2021 (155)
13	GNOMAD	ss3993551849	Apr 25, 2021 (155)
14	GNOMAD	ss3993551850	Apr 25, 2021 (155)
15	GNOMAD	ss3993551851	Apr 25, 2021 (155)
16	GNOMAD	ss3993551852	Apr 25, 2021 (155)
17	GNOMAD	ss3993551853	Apr 25, 2021 (155)
18	GNOMAD	ss3993551854	Apr 25, 2021 (155)
19	GNOMAD	ss3993551858	Apr 25, 2021 (155)
20	GNOMAD	ss3993551859	Apr 25, 2021 (155)
21	GNOMAD	ss3993551860	Apr 25, 2021 (155)
22	GNOMAD	ss3993551861	Apr 25, 2021 (155)
23	GNOMAD	ss3993551862	Apr 25, 2021 (155)
24	GNOMAD	ss3993551863	Apr 25, 2021 (155)
25	GNOMAD	ss3993551864	Apr 25, 2021 (155)
26	GNOMAD	ss3993551865	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5143919227	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5143919228	Apr 25, 2021 (155)
29	TOMMO_GENOMICS	ss5143919229	Apr 25, 2021 (155)
30	TOMMO_GENOMICS	ss5143919230	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5143919231	Apr 25, 2021 (155)
32	HUGCELL_USP	ss5443309329	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5443309330	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5668683324	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5668683325	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5668683326	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5668683327	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5668683328	Oct 12, 2022 (156)
39	EVA	ss5831949274	Oct 12, 2022 (156)
40	EVA	ss5908231755	Oct 12, 2022 (156)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11210054 (NC_000001.11:54044341::A 118/67750) Row 11210055 (NC_000001.11:54044341::AAA 7/67758) Row 11210056 (NC_000001.11:54044341::AAAA 2/67760)...	-	Apr 25, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 1888534 (NC_000001.10:54510014::A 517/15272) Row 1888535 (NC_000001.10:54510014::AAAAAAA 3292/15272) Row 1888536 (NC_000001.10:54510014::AAAAAAAAA 435/15272)...	-	Apr 25, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 1888534 (NC_000001.10:54510014::A 517/15272) Row 1888535 (NC_000001.10:54510014::AAAAAAA 3292/15272) Row 1888536 (NC_000001.10:54510014::AAAAAAAAA 435/15272)...	-	Apr 25, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 1888534 (NC_000001.10:54510014::A 517/15272) Row 1888535 (NC_000001.10:54510014::AAAAAAA 3292/15272) Row 1888536 (NC_000001.10:54510014::AAAAAAAAA 435/15272)...	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 1888534 (NC_000001.10:54510014::A 517/15272) Row 1888535 (NC_000001.10:54510014::AAAAAAA 3292/15272) Row 1888536 (NC_000001.10:54510014::AAAAAAAAA 435/15272)...	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 1888534 (NC_000001.10:54510014::A 517/15272) Row 1888535 (NC_000001.10:54510014::AAAAAAA 3292/15272) Row 1888536 (NC_000001.10:54510014::AAAAAAAAA 435/15272)...	-	Apr 25, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 2520428 (NC_000001.11:54044341::AAAAAAA 6298/26244) Row 2520429 (NC_000001.11:54044341::A 829/26244) Row 2520430 (NC_000001.11:54044341::AAAAAAAAA 626/26244)...	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 2520428 (NC_000001.11:54044341::AAAAAAA 6298/26244) Row 2520429 (NC_000001.11:54044341::A 829/26244) Row 2520430 (NC_000001.11:54044341::AAAAAAAAA 626/26244)...	-	Oct 12, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 2520428 (NC_000001.11:54044341::AAAAAAA 6298/26244) Row 2520429 (NC_000001.11:54044341::A 829/26244) Row 2520430 (NC_000001.11:54044341::AAAAAAAAA 626/26244)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 2520428 (NC_000001.11:54044341::AAAAAAA 6298/26244) Row 2520429 (NC_000001.11:54044341::A 829/26244) Row 2520430 (NC_000001.11:54044341::AAAAAAAAA 626/26244)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 2520428 (NC_000001.11:54044341::AAAAAAA 6298/26244) Row 2520429 (NC_000001.11:54044341::A 829/26244) Row 2520430 (NC_000001.11:54044341::AAAAAAAAA 626/26244)...	-	Oct 12, 2022 (156)
69	ALFA	NC_000001.11 - 54044342	Apr 25, 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
ss1536227777	NC_000001.10:54510014:AAAAAAAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3686757492, ss3993551865, ss5443309330, ss5908231755	NC_000001.11:54044341:AAAAAAAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3993551864	NC_000001.11:54044341:AAAAAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3993551863	NC_000001.11:54044341:AAAAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3993551862	NC_000001.11:54044341:AAAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3993551861	NC_000001.11:54044341:AAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3993551860	NC_000001.11:54044341:AAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3993551859	NC_000001.11:54044341:AA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3993551858	NC_000001.11:54044341:A:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5143919227	NC_000001.10:54510014::A	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3993551845, ss5668683325	NC_000001.11:54044341::A	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5831949274	NC_000001.10:54510014::AAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
ss3993551846	NC_000001.11:54044341::AAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551847	NC_000001.11:54044341::AAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686757491	NC_000001.11:54044350::AAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5143919231	NC_000001.10:54510014::AAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551848, ss5668683328	NC_000001.11:54044341::AAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686757490	NC_000001.11:54044350::AAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss947020212, ss5143919228	NC_000001.10:54510014::AAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551849, ss5443309329, ss5668683324	NC_000001.11:54044341::AAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686757489	NC_000001.11:54044350::AAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95229362	NT_032977.9:24481951::AAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5143919230	NC_000001.10:54510014::AAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5668683327	NC_000001.11:54044341::AAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686757488	NC_000001.11:54044350::AAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5143919229	NC_000001.10:54510014::AAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551850, ss5668683326	NC_000001.11:54044341::AAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551851	NC_000001.11:54044341::AAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
12662629102	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551852	NC_000001.11:54044341::AAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551853	NC_000001.11:54044341::AAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993551854	NC_000001.11:54044341::AAAAAAAAAAA… NC_000001.11:54044341::AAAAAAAAAAAAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss3076483760	NC_000001.11:54044341::AA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
ss3076483762	NC_000001.11:54044341::AAAAA	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
ss3076483775	NC_000001.11:54044341:AAAAAAAA:	NC_000001.11:54044341:AAAAAAAAAAAA… NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

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

No publications for rs71063899

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

rs71063899