Name: rs76749666
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.

rs76749666

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:54034119-54034140 (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)₁₄ / del(A)₁₀ / del(A)₉ / de…
del(A)₁₄ / 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)₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.000008 (2/264690, TOPMED)
del(A)₆=0.3315 (1660/5008, 1000G)
del(A)₁₄=0.0000 (0/4372, ALFA) (+ 13 more)
del(A)₁₀=0.0000 (0/4372, ALFA)
del(A)₉=0.0000 (0/4372, ALFA)
del(A)₈=0.0000 (0/4372, ALFA)
del(A)₇=0.0000 (0/4372, ALFA)
del(A)₆=0.0000 (0/4372, ALFA)
del(A)₅=0.0000 (0/4372, ALFA)
del(A)₄=0.0000 (0/4372, ALFA)
delAAA=0.0000 (0/4372, ALFA)
delAA=0.0000 (0/4372, ALFA)
delA=0.0000 (0/4372, ALFA)
dupA=0.0000 (0/4372, ALFA)
dupAA=0.0000 (0/4372, ALFA)
dupAAA=0.0000 (0/4372, 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	4372	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	3108	AAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	762	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	20	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	742	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	76	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	64	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	12	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	42	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	164	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	36	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	184	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=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
TopMed	Global	Study-wide	264690	(A)₂₂=0.999992	del(A)₁₄=0.000008
1000Genomes	Global	Study-wide	5008	(A)₂₂=0.6685	del(A)₆=0.3315
1000Genomes	African	Sub	1322	(A)₂₂=0.8275	del(A)₆=0.1725
1000Genomes	East Asian	Sub	1008	(A)₂₂=0.7629	del(A)₆=0.2371
1000Genomes	Europe	Sub	1006	(A)₂₂=0.5477	del(A)₆=0.4523
1000Genomes	South Asian	Sub	978	(A)₂₂=0.498	del(A)₆=0.502
1000Genomes	American	Sub	694	(A)₂₂=0.644	del(A)₆=0.356
Allele Frequency Aggregator	Total	Global	4372	(A)₂₂=1.0000	del(A)₁₄=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	3108	(A)₂₂=1.0000	del(A)₁₄=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	762	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	184	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	164	(A)₂₂=1.000	del(A)₁₄=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	76	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	36	(A)₂₂=1.00	del(A)₁₄=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00

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.54034127_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034131_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034132_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034133_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034134_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034135_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034136_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034137_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034138_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034139_54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034140del
GRCh38.p14 chr 1	NC_000001.11:g.54034140dup
GRCh38.p14 chr 1	NC_000001.11:g.54034139_54034140dup
GRCh38.p14 chr 1	NC_000001.11:g.54034138_54034140dup
GRCh38.p14 chr 1	NC_000001.11:g.54034137_54034140dup
GRCh38.p14 chr 1	NC_000001.11:g.54034136_54034140dup
GRCh38.p14 chr 1	NC_000001.11:g.54034135_54034140dup
GRCh38.p14 chr 1	NC_000001.11:g.54034133_54034140dup
GRCh37.p13 chr 1	NC_000001.10:g.54499800_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499804_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499805_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499806_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499807_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499808_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499809_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499810_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499811_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499812_54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499813del
GRCh37.p13 chr 1	NC_000001.10:g.54499813dup
GRCh37.p13 chr 1	NC_000001.10:g.54499812_54499813dup
GRCh37.p13 chr 1	NC_000001.10:g.54499811_54499813dup
GRCh37.p13 chr 1	NC_000001.10:g.54499810_54499813dup
GRCh37.p13 chr 1	NC_000001.10:g.54499809_54499813dup
GRCh37.p13 chr 1	NC_000001.10:g.54499808_54499813dup
GRCh37.p13 chr 1	NC_000001.10:g.54499806_54499813dup

Gene: TMEM59, transmembrane protein 59 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM59 transcript variant 1	NM_001305043.2:c.820-1827… NM_001305043.2:c.820-1827_820-1814del	N/A	Intron Variant
TMEM59 transcript variant 3	NM_001305049.1:c.427-1827… NM_001305049.1:c.427-1827_427-1814del	N/A	Intron Variant
TMEM59 transcript variant 4	NM_001305050.2:c.619-1827… NM_001305050.2:c.619-1827_619-1814del	N/A	Intron Variant
TMEM59 transcript variant 6	NM_001305051.1:c.424-1827… NM_001305051.1:c.424-1827_424-1814del	N/A	Intron Variant
TMEM59 transcript variant 7	NM_001305052.1:c.424-1827… NM_001305052.1:c.424-1827_424-1814del	N/A	Intron Variant
TMEM59 transcript variant 2	NM_004872.5:c.817-1827_81… NM_004872.5:c.817-1827_817-1814del	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)₂₂=	del(A)₁₄	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)₈
GRCh38.p14 chr 1	NC_000001.11:g.54034119_54034140=	NC_000001.11:g.54034127_54034140del	NC_000001.11:g.54034131_54034140del	NC_000001.11:g.54034132_54034140del	NC_000001.11:g.54034133_54034140del	NC_000001.11:g.54034134_54034140del	NC_000001.11:g.54034135_54034140del	NC_000001.11:g.54034136_54034140del	NC_000001.11:g.54034137_54034140del	NC_000001.11:g.54034138_54034140del	NC_000001.11:g.54034139_54034140del	NC_000001.11:g.54034140del	NC_000001.11:g.54034140dup	NC_000001.11:g.54034139_54034140dup	NC_000001.11:g.54034138_54034140dup	NC_000001.11:g.54034137_54034140dup	NC_000001.11:g.54034136_54034140dup	NC_000001.11:g.54034135_54034140dup	NC_000001.11:g.54034133_54034140dup
GRCh37.p13 chr 1	NC_000001.10:g.54499792_54499813=	NC_000001.10:g.54499800_54499813del	NC_000001.10:g.54499804_54499813del	NC_000001.10:g.54499805_54499813del	NC_000001.10:g.54499806_54499813del	NC_000001.10:g.54499807_54499813del	NC_000001.10:g.54499808_54499813del	NC_000001.10:g.54499809_54499813del	NC_000001.10:g.54499810_54499813del	NC_000001.10:g.54499811_54499813del	NC_000001.10:g.54499812_54499813del	NC_000001.10:g.54499813del	NC_000001.10:g.54499813dup	NC_000001.10:g.54499812_54499813dup	NC_000001.10:g.54499811_54499813dup	NC_000001.10:g.54499810_54499813dup	NC_000001.10:g.54499809_54499813dup	NC_000001.10:g.54499808_54499813dup	NC_000001.10:g.54499806_54499813dup
TMEM59 transcript variant 1	NM_001305043.2:c.820-1814=	NM_001305043.2:c.820-1827_820-1814del	NM_001305043.2:c.820-1823_820-1814del	NM_001305043.2:c.820-1822_820-1814del	NM_001305043.2:c.820-1821_820-1814del	NM_001305043.2:c.820-1820_820-1814del	NM_001305043.2:c.820-1819_820-1814del	NM_001305043.2:c.820-1818_820-1814del	NM_001305043.2:c.820-1817_820-1814del	NM_001305043.2:c.820-1816_820-1814del	NM_001305043.2:c.820-1815_820-1814del	NM_001305043.2:c.820-1814del	NM_001305043.2:c.820-1814dup	NM_001305043.2:c.820-1815_820-1814dup	NM_001305043.2:c.820-1816_820-1814dup	NM_001305043.2:c.820-1817_820-1814dup	NM_001305043.2:c.820-1818_820-1814dup	NM_001305043.2:c.820-1819_820-1814dup	NM_001305043.2:c.820-1821_820-1814dup
TMEM59 transcript variant 3	NM_001305049.1:c.427-1814=	NM_001305049.1:c.427-1827_427-1814del	NM_001305049.1:c.427-1823_427-1814del	NM_001305049.1:c.427-1822_427-1814del	NM_001305049.1:c.427-1821_427-1814del	NM_001305049.1:c.427-1820_427-1814del	NM_001305049.1:c.427-1819_427-1814del	NM_001305049.1:c.427-1818_427-1814del	NM_001305049.1:c.427-1817_427-1814del	NM_001305049.1:c.427-1816_427-1814del	NM_001305049.1:c.427-1815_427-1814del	NM_001305049.1:c.427-1814del	NM_001305049.1:c.427-1814dup	NM_001305049.1:c.427-1815_427-1814dup	NM_001305049.1:c.427-1816_427-1814dup	NM_001305049.1:c.427-1817_427-1814dup	NM_001305049.1:c.427-1818_427-1814dup	NM_001305049.1:c.427-1819_427-1814dup	NM_001305049.1:c.427-1821_427-1814dup
TMEM59 transcript variant 4	NM_001305050.2:c.619-1814=	NM_001305050.2:c.619-1827_619-1814del	NM_001305050.2:c.619-1823_619-1814del	NM_001305050.2:c.619-1822_619-1814del	NM_001305050.2:c.619-1821_619-1814del	NM_001305050.2:c.619-1820_619-1814del	NM_001305050.2:c.619-1819_619-1814del	NM_001305050.2:c.619-1818_619-1814del	NM_001305050.2:c.619-1817_619-1814del	NM_001305050.2:c.619-1816_619-1814del	NM_001305050.2:c.619-1815_619-1814del	NM_001305050.2:c.619-1814del	NM_001305050.2:c.619-1814dup	NM_001305050.2:c.619-1815_619-1814dup	NM_001305050.2:c.619-1816_619-1814dup	NM_001305050.2:c.619-1817_619-1814dup	NM_001305050.2:c.619-1818_619-1814dup	NM_001305050.2:c.619-1819_619-1814dup	NM_001305050.2:c.619-1821_619-1814dup
TMEM59 transcript variant 6	NM_001305051.1:c.424-1814=	NM_001305051.1:c.424-1827_424-1814del	NM_001305051.1:c.424-1823_424-1814del	NM_001305051.1:c.424-1822_424-1814del	NM_001305051.1:c.424-1821_424-1814del	NM_001305051.1:c.424-1820_424-1814del	NM_001305051.1:c.424-1819_424-1814del	NM_001305051.1:c.424-1818_424-1814del	NM_001305051.1:c.424-1817_424-1814del	NM_001305051.1:c.424-1816_424-1814del	NM_001305051.1:c.424-1815_424-1814del	NM_001305051.1:c.424-1814del	NM_001305051.1:c.424-1814dup	NM_001305051.1:c.424-1815_424-1814dup	NM_001305051.1:c.424-1816_424-1814dup	NM_001305051.1:c.424-1817_424-1814dup	NM_001305051.1:c.424-1818_424-1814dup	NM_001305051.1:c.424-1819_424-1814dup	NM_001305051.1:c.424-1821_424-1814dup
TMEM59 transcript variant 7	NM_001305052.1:c.424-1814=	NM_001305052.1:c.424-1827_424-1814del	NM_001305052.1:c.424-1823_424-1814del	NM_001305052.1:c.424-1822_424-1814del	NM_001305052.1:c.424-1821_424-1814del	NM_001305052.1:c.424-1820_424-1814del	NM_001305052.1:c.424-1819_424-1814del	NM_001305052.1:c.424-1818_424-1814del	NM_001305052.1:c.424-1817_424-1814del	NM_001305052.1:c.424-1816_424-1814del	NM_001305052.1:c.424-1815_424-1814del	NM_001305052.1:c.424-1814del	NM_001305052.1:c.424-1814dup	NM_001305052.1:c.424-1815_424-1814dup	NM_001305052.1:c.424-1816_424-1814dup	NM_001305052.1:c.424-1817_424-1814dup	NM_001305052.1:c.424-1818_424-1814dup	NM_001305052.1:c.424-1819_424-1814dup	NM_001305052.1:c.424-1821_424-1814dup
TMEM59 transcript	NM_004872.3:c.817-1814=	NM_004872.3:c.817-1827_817-1814del	NM_004872.3:c.817-1823_817-1814del	NM_004872.3:c.817-1822_817-1814del	NM_004872.3:c.817-1821_817-1814del	NM_004872.3:c.817-1820_817-1814del	NM_004872.3:c.817-1819_817-1814del	NM_004872.3:c.817-1818_817-1814del	NM_004872.3:c.817-1817_817-1814del	NM_004872.3:c.817-1816_817-1814del	NM_004872.3:c.817-1815_817-1814del	NM_004872.3:c.817-1814del	NM_004872.3:c.817-1814dup	NM_004872.3:c.817-1815_817-1814dup	NM_004872.3:c.817-1816_817-1814dup	NM_004872.3:c.817-1817_817-1814dup	NM_004872.3:c.817-1818_817-1814dup	NM_004872.3:c.817-1819_817-1814dup	NM_004872.3:c.817-1821_817-1814dup
TMEM59 transcript variant 2	NM_004872.5:c.817-1814=	NM_004872.5:c.817-1827_817-1814del	NM_004872.5:c.817-1823_817-1814del	NM_004872.5:c.817-1822_817-1814del	NM_004872.5:c.817-1821_817-1814del	NM_004872.5:c.817-1820_817-1814del	NM_004872.5:c.817-1819_817-1814del	NM_004872.5:c.817-1818_817-1814del	NM_004872.5:c.817-1817_817-1814del	NM_004872.5:c.817-1816_817-1814del	NM_004872.5:c.817-1815_817-1814del	NM_004872.5:c.817-1814del	NM_004872.5:c.817-1814dup	NM_004872.5:c.817-1815_817-1814dup	NM_004872.5:c.817-1816_817-1814dup	NM_004872.5:c.817-1817_817-1814dup	NM_004872.5:c.817-1818_817-1814dup	NM_004872.5:c.817-1819_817-1814dup	NM_004872.5:c.817-1821_817-1814dup
TMEM59 transcript variant X1	XM_005271350.1:c.820-1814=	XM_005271350.1:c.820-1827_820-1814del	XM_005271350.1:c.820-1823_820-1814del	XM_005271350.1:c.820-1822_820-1814del	XM_005271350.1:c.820-1821_820-1814del	XM_005271350.1:c.820-1820_820-1814del	XM_005271350.1:c.820-1819_820-1814del	XM_005271350.1:c.820-1818_820-1814del	XM_005271350.1:c.820-1817_820-1814del	XM_005271350.1:c.820-1816_820-1814del	XM_005271350.1:c.820-1815_820-1814del	XM_005271350.1:c.820-1814del	XM_005271350.1:c.820-1814dup	XM_005271350.1:c.820-1815_820-1814dup	XM_005271350.1:c.820-1816_820-1814dup	XM_005271350.1:c.820-1817_820-1814dup	XM_005271350.1:c.820-1818_820-1814dup	XM_005271350.1:c.820-1819_820-1814dup	XM_005271350.1:c.820-1821_820-1814dup
TMEM59 transcript variant X2	XM_005271351.1:c.619-1814=	XM_005271351.1:c.619-1827_619-1814del	XM_005271351.1:c.619-1823_619-1814del	XM_005271351.1:c.619-1822_619-1814del	XM_005271351.1:c.619-1821_619-1814del	XM_005271351.1:c.619-1820_619-1814del	XM_005271351.1:c.619-1819_619-1814del	XM_005271351.1:c.619-1818_619-1814del	XM_005271351.1:c.619-1817_619-1814del	XM_005271351.1:c.619-1816_619-1814del	XM_005271351.1:c.619-1815_619-1814del	XM_005271351.1:c.619-1814del	XM_005271351.1:c.619-1814dup	XM_005271351.1:c.619-1815_619-1814dup	XM_005271351.1:c.619-1816_619-1814dup	XM_005271351.1:c.619-1817_619-1814dup	XM_005271351.1:c.619-1818_619-1814dup	XM_005271351.1:c.619-1819_619-1814dup	XM_005271351.1:c.619-1821_619-1814dup

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#.

60 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95229361	Dec 01, 2009 (131)
2	SSMP	ss663193044	Apr 01, 2015 (144)
3	1000GENOMES	ss1367706177	Aug 21, 2014 (142)
4	EVA_UK10K_TWINSUK	ss1700644080	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1700644082	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1709925316	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1709925318	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1709926039	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1709926041	Apr 01, 2015 (144)
10	SWEGEN	ss2986805653	Nov 08, 2017 (151)
11	MCHAISSO	ss3064401364	Nov 08, 2017 (151)
12	MCHAISSO	ss3065301988	Nov 08, 2017 (151)
13	URBANLAB	ss3646661156	Oct 11, 2018 (152)
14	EVA_DECODE	ss3686757369	Jul 12, 2019 (153)
15	EVA_DECODE	ss3686757370	Jul 12, 2019 (153)
16	EVA_DECODE	ss3686757371	Jul 12, 2019 (153)
17	EVA_DECODE	ss3686757372	Jul 12, 2019 (153)
18	EVA_DECODE	ss3686757373	Jul 12, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3799203896	Jul 12, 2019 (153)
20	EVA	ss3826167499	Apr 25, 2020 (154)
21	GNOMAD	ss3993550728	Apr 25, 2021 (155)
22	GNOMAD	ss3993550729	Apr 25, 2021 (155)
23	GNOMAD	ss3993550730	Apr 25, 2021 (155)
24	GNOMAD	ss3993550731	Apr 25, 2021 (155)
25	GNOMAD	ss3993550732	Apr 25, 2021 (155)
26	GNOMAD	ss3993550733	Apr 25, 2021 (155)
27	GNOMAD	ss3993550734	Apr 25, 2021 (155)
28	GNOMAD	ss3993550735	Apr 25, 2021 (155)
29	GNOMAD	ss3993550736	Apr 25, 2021 (155)
30	GNOMAD	ss3993550737	Apr 25, 2021 (155)
31	GNOMAD	ss3993550738	Apr 25, 2021 (155)
32	GNOMAD	ss3993550739	Apr 25, 2021 (155)
33	GNOMAD	ss3993550740	Apr 25, 2021 (155)
34	GNOMAD	ss3993550741	Apr 25, 2021 (155)
35	GNOMAD	ss3993550742	Apr 25, 2021 (155)
36	GNOMAD	ss3993550743	Apr 25, 2021 (155)
37	GNOMAD	ss3993550744	Apr 25, 2021 (155)
38	GNOMAD	ss3993550745	Apr 25, 2021 (155)
39	TOPMED	ss4449514114	Apr 25, 2021 (155)
40	TOMMO_GENOMICS	ss5143918971	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5143918972	Apr 25, 2021 (155)
42	TOMMO_GENOMICS	ss5143918973	Apr 25, 2021 (155)
43	TOMMO_GENOMICS	ss5143918974	Apr 25, 2021 (155)
44	TOMMO_GENOMICS	ss5143918975	Apr 25, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5242245248	Oct 12, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5242245249	Oct 12, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5242245250	Oct 12, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5242245251	Oct 12, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5242245252	Oct 12, 2022 (156)
50	HUGCELL_USP	ss5443309128	Oct 12, 2022 (156)
51	HUGCELL_USP	ss5443309129	Oct 12, 2022 (156)
52	HUGCELL_USP	ss5443309130	Oct 12, 2022 (156)
53	HUGCELL_USP	ss5443309131	Oct 12, 2022 (156)
54	HUGCELL_USP	ss5443309132	Oct 12, 2022 (156)
55	TOMMO_GENOMICS	ss5668682983	Oct 12, 2022 (156)
56	TOMMO_GENOMICS	ss5668682984	Oct 12, 2022 (156)
57	TOMMO_GENOMICS	ss5668682985	Oct 12, 2022 (156)
58	TOMMO_GENOMICS	ss5668682986	Oct 12, 2022 (156)
59	TOMMO_GENOMICS	ss5668682987	Oct 12, 2022 (156)
60	EVA	ss5848901836	Oct 12, 2022 (156)
61	1000Genomes	NC_000001.10 - 54499792	Oct 11, 2018 (152)
62	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 860044 (NC_000001.10:54499792:AAAAA: 2625/3854) Row 860045 (NC_000001.10:54499791:AAAAAAA: 451/3854) Row 860046 (NC_000001.10:54499793:AAA: 284/3854)	-	Oct 11, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 860044 (NC_000001.10:54499792:AAAAA: 2625/3854) Row 860045 (NC_000001.10:54499791:AAAAAAA: 451/3854) Row 860046 (NC_000001.10:54499793:AAA: 284/3854)	-	Oct 11, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 860044 (NC_000001.10:54499792:AAAAA: 2625/3854) Row 860045 (NC_000001.10:54499791:AAAAAAA: 451/3854) Row 860046 (NC_000001.10:54499793:AAA: 284/3854)	-	Oct 11, 2018 (152)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 11208276 (NC_000001.11:54034118::A 10060/75942) Row 11208277 (NC_000001.11:54034118::AA 901/76120) Row 11208278 (NC_000001.11:54034118::AAA 34/76392)...	-	Apr 25, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 1888278 (NC_000001.10:54499791:AAAAAA: 1563/16630) Row 1888279 (NC_000001.10:54499791::A 1308/16630) Row 1888280 (NC_000001.10:54499791:AAAAAAA: 9/16630)...	-	Apr 25, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 1888278 (NC_000001.10:54499791:AAAAAA: 1563/16630) Row 1888279 (NC_000001.10:54499791::A 1308/16630) Row 1888280 (NC_000001.10:54499791:AAAAAAA: 9/16630)...	-	Apr 25, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 1888278 (NC_000001.10:54499791:AAAAAA: 1563/16630) Row 1888279 (NC_000001.10:54499791::A 1308/16630) Row 1888280 (NC_000001.10:54499791:AAAAAAA: 9/16630)...	-	Apr 25, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 1888278 (NC_000001.10:54499791:AAAAAA: 1563/16630) Row 1888279 (NC_000001.10:54499791::A 1308/16630) Row 1888280 (NC_000001.10:54499791:AAAAAAA: 9/16630)...	-	Apr 25, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 1888278 (NC_000001.10:54499791:AAAAAA: 1563/16630) Row 1888279 (NC_000001.10:54499791::A 1308/16630) Row 1888280 (NC_000001.10:54499791:AAAAAAA: 9/16630)...	-	Apr 25, 2021 (155)
88	14KJPN Submission ignored due to conflicting rows: Row 2520087 (NC_000001.11:54034118:AAAAAA: 2896/27756) Row 2520088 (NC_000001.11:54034118::A 2084/27756) Row 2520089 (NC_000001.11:54034118:AAAAAAA: 11/27756)...	-	Oct 12, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 2520087 (NC_000001.11:54034118:AAAAAA: 2896/27756) Row 2520088 (NC_000001.11:54034118::A 2084/27756) Row 2520089 (NC_000001.11:54034118:AAAAAAA: 11/27756)...	-	Oct 12, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 2520087 (NC_000001.11:54034118:AAAAAA: 2896/27756) Row 2520088 (NC_000001.11:54034118::A 2084/27756) Row 2520089 (NC_000001.11:54034118:AAAAAAA: 11/27756)...	-	Oct 12, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 2520087 (NC_000001.11:54034118:AAAAAA: 2896/27756) Row 2520088 (NC_000001.11:54034118::A 2084/27756) Row 2520089 (NC_000001.11:54034118:AAAAAAA: 11/27756)...	-	Oct 12, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 2520087 (NC_000001.11:54034118:AAAAAA: 2896/27756) Row 2520088 (NC_000001.11:54034118::A 2084/27756) Row 2520089 (NC_000001.11:54034118:AAAAAAA: 11/27756)...	-	Oct 12, 2022 (156)
93	TopMed	NC_000001.11 - 54034119	Apr 25, 2021 (155)
94	UK 10K study - Twins Submission ignored due to conflicting rows: Row 860044 (NC_000001.10:54499792:AAAAA: 2484/3708) Row 860045 (NC_000001.10:54499791:AAAAAAA: 444/3708) Row 860046 (NC_000001.10:54499793:AAA: 271/3708)	-	Oct 11, 2018 (152)
95	UK 10K study - Twins Submission ignored due to conflicting rows: Row 860044 (NC_000001.10:54499792:AAAAA: 2484/3708) Row 860045 (NC_000001.10:54499791:AAAAAAA: 444/3708) Row 860046 (NC_000001.10:54499793:AAA: 271/3708)	-	Oct 11, 2018 (152)
96	UK 10K study - Twins Submission ignored due to conflicting rows: Row 860044 (NC_000001.10:54499792:AAAAA: 2484/3708) Row 860045 (NC_000001.10:54499791:AAAAAAA: 444/3708) Row 860046 (NC_000001.10:54499793:AAA: 271/3708)	-	Oct 11, 2018 (152)
97	ALFA	NC_000001.11 - 54034119	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).

Associated ID	History Updated (Build)
rs35548629	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
13120449, ss3993550745, ss4449514114	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss3993550744	NC_000001.11:54034118:AAAAAAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3993550743	NC_000001.11:54034118:AAAAAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3993550742	NC_000001.11:54034118:AAAAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1700644080, ss1700644082, ss5143918973	NC_000001.10:54499791:AAAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3686757373, ss3993550741, ss5242245252, ss5443309129, ss5668682985, ss5848901836	NC_000001.11:54034118:AAAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1582431, ss1367706177, ss2986805653, ss3826167499, ss5143918971	NC_000001.10:54499791:AAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1709925316, ss1709926039	NC_000001.10:54499792:AAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3064401364, ss3065301988, ss3646661156, ss3799203896, ss3993550740, ss5242245248, ss5443309128, ss5668682983	NC_000001.11:54034118:AAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3686757372	NC_000001.11:54034119:AAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss95229361	NT_032977.9:24471725:AAAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
	NC_000001.10:54499792:AAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1709925318, ss1709926041	NC_000001.10:54499793:AAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3993550739	NC_000001.11:54034118:AAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3686757371	NC_000001.11:54034120:AAAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3993550738	NC_000001.11:54034118:AAAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
	NC_000001.10:54499793:AAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3993550737	NC_000001.11:54034118:AAA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3993550736	NC_000001.11:54034118:AA:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5143918975	NC_000001.10:54499791:A:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550735, ss5242245251, ss5443309132, ss5668682987	NC_000001.11:54034118:A:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3686757370	NC_000001.11:54034124:A:	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss663193044, ss5143918972	NC_000001.10:54499791::A	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550728, ss5242245249, ss5443309130, ss5668682984	NC_000001.11:54034118::A	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686757369	NC_000001.11:54034125::A	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5143918974	NC_000001.10:54499791::AA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550729, ss5242245250, ss5443309131, ss5668682986	NC_000001.11:54034118::AA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550730	NC_000001.11:54034118::AAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
65643877	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550731	NC_000001.11:54034118::AAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550732	NC_000001.11:54034118::AAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550733	NC_000001.11:54034118::AAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3993550734	NC_000001.11:54034118::AAAAAAAA	NC_000001.11:54034118:AAAAAAAAAAAA… NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs76749666

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

rs76749666