Name: rs200450047
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.

rs200450047

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:18620092-18620105 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: delTT=0.4176 (3516/8419, ALFA)
(T)₁₄=0.1957 (980/5008, 1000G)
(T)₁₄=0.267 (160/600, NorthernSweden) (+ 1 more)
(T)₁₄=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NSUN6 : 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	8419	TTTTTTTTTTTTTT=0.5824	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.4176, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000	0.493939	0.3285	0.177561	32
European	Sub	7241	TTTTTTTTTTTTTT=0.5153	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.4847, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000	0.412659	0.381426	0.205915	32
African	Sub	728	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	22	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	706	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	50	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	42	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	52	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	160	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	38	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	150	TTTTTTTTTTTTTT=0.960	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.040, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000	0.946667	0.026667	0.026667	17

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	8419	(T)₁₄=0.5824	delTTT=0.0000, delTT=0.4176, delT=0.0000, dupT=0.0000
Allele Frequency Aggregator	European	Sub	7241	(T)₁₄=0.5153	delTTT=0.0000, delTT=0.4847, delT=0.0000, dupT=0.0000
Allele Frequency Aggregator	African	Sub	728	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	160	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Other	Sub	150	(T)₁₄=0.960	delTTT=0.000, delTT=0.040, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	52	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Asian	Sub	50	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	South Asian	Sub	38	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₄=0.1957	delTT=0.8043
1000Genomes	African	Sub	1322	(T)₁₄=0.2451	delTT=0.7549
1000Genomes	East Asian	Sub	1008	(T)₁₄=0.0228	delTT=0.9772
1000Genomes	Europe	Sub	1006	(T)₁₄=0.2753	delTT=0.7247
1000Genomes	South Asian	Sub	978	(T)₁₄=0.191	delTT=0.809
1000Genomes	American	Sub	694	(T)₁₄=0.244	delTT=0.756
Northern Sweden	ACPOP	Study-wide	600	(T)₁₄=0.267	delTT=0.733
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₄=0.25	delTT=0.75

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 10	NC_000010.11:g.18620103_18620105del
GRCh38.p14 chr 10	NC_000010.11:g.18620104_18620105del
GRCh38.p14 chr 10	NC_000010.11:g.18620105del
GRCh38.p14 chr 10	NC_000010.11:g.18620105dup
GRCh38.p14 chr 10	NC_000010.11:g.18620101_18620105dup
GRCh37.p13 chr 10	NC_000010.10:g.18909032_18909034del
GRCh37.p13 chr 10	NC_000010.10:g.18909033_18909034del
GRCh37.p13 chr 10	NC_000010.10:g.18909034del
GRCh37.p13 chr 10	NC_000010.10:g.18909034dup
GRCh37.p13 chr 10	NC_000010.10:g.18909030_18909034dup

Gene: NSUN6, NOP2/Sun RNA methyltransferase 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NSUN6 transcript variant 2	NM_001351115.2:c.309-3801… NM_001351115.2:c.309-3801_309-3799del	N/A	Intron Variant
NSUN6 transcript variant 3	NM_001351116.2:c.276-3801… NM_001351116.2:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant 4	NM_001351117.2:c.156-3801… NM_001351117.2:c.156-3801_156-3799del	N/A	Intron Variant
NSUN6 transcript variant 5	NM_001351118.2:c.-112-380… NM_001351118.2:c.-112-3801_-112-3799del	N/A	Intron Variant
NSUN6 transcript variant 1	NM_182543.5:c.312-3801_31… NM_182543.5:c.312-3801_312-3799del	N/A	Intron Variant
NSUN6 transcript variant X2	XM_011519383.2:c.309-3801… XM_011519383.2:c.309-3801_309-3799del	N/A	Intron Variant
NSUN6 transcript variant X5	XM_011519384.2:c.276-3801… XM_011519384.2:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant X3	XM_011519385.2:c.276-3801… XM_011519385.2:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant X6	XM_011519386.3:c.276-3801… XM_011519386.3:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant X10	XM_011519387.3:c.156-3801… XM_011519387.3:c.156-3801_156-3799del	N/A	Intron Variant
NSUN6 transcript variant X4	XM_017015907.3:c.276-3801… XM_017015907.3:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant X15	XM_017015912.3:c.-113+222… XM_017015912.3:c.-113+2226_-113+2228del	N/A	Intron Variant
NSUN6 transcript variant X7	XM_024447884.2:c.276-3801… XM_024447884.2:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant X1	XM_047424777.1:c.312-3801… XM_047424777.1:c.312-3801_312-3799del	N/A	Intron Variant
NSUN6 transcript variant X8	XM_047424778.1:c.276-3801… XM_047424778.1:c.276-3801_276-3799del	N/A	Intron Variant
NSUN6 transcript variant X9	XM_047424779.1:c.273-3801… XM_047424779.1:c.273-3801_273-3799del	N/A	Intron Variant
NSUN6 transcript variant X11	XM_047424780.1:c.312-3801… XM_047424780.1:c.312-3801_312-3799del	N/A	Intron Variant
NSUN6 transcript variant X12	XM_047424781.1:c.15-3801_… XM_047424781.1:c.15-3801_15-3799del	N/A	Intron Variant
NSUN6 transcript variant X13	XM_047424782.1:c.312-3801… XM_047424782.1:c.312-3801_312-3799del	N/A	Intron Variant
NSUN6 transcript variant X14	XM_047424783.1:c.-112-380… XM_047424783.1:c.-112-3801_-112-3799del	N/A	Intron Variant
NSUN6 transcript variant X16	XM_047424784.1:c.312-3801… XM_047424784.1:c.312-3801_312-3799del	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	(T)₁₄=	delTTT	delTT	delT	dupT	dup(T)₅
GRCh38.p14 chr 10	NC_000010.11:g.18620092_18620105=	NC_000010.11:g.18620103_18620105del	NC_000010.11:g.18620104_18620105del	NC_000010.11:g.18620105del	NC_000010.11:g.18620105dup	NC_000010.11:g.18620101_18620105dup
GRCh37.p13 chr 10	NC_000010.10:g.18909021_18909034=	NC_000010.10:g.18909032_18909034del	NC_000010.10:g.18909033_18909034del	NC_000010.10:g.18909034del	NC_000010.10:g.18909034dup	NC_000010.10:g.18909030_18909034dup
NSUN6 transcript variant 2	NM_001351115.2:c.309-3799=	NM_001351115.2:c.309-3801_309-3799del	NM_001351115.2:c.309-3800_309-3799del	NM_001351115.2:c.309-3799del	NM_001351115.2:c.309-3799dup	NM_001351115.2:c.309-3803_309-3799dup
NSUN6 transcript variant 3	NM_001351116.2:c.276-3799=	NM_001351116.2:c.276-3801_276-3799del	NM_001351116.2:c.276-3800_276-3799del	NM_001351116.2:c.276-3799del	NM_001351116.2:c.276-3799dup	NM_001351116.2:c.276-3803_276-3799dup
NSUN6 transcript variant 4	NM_001351117.2:c.156-3799=	NM_001351117.2:c.156-3801_156-3799del	NM_001351117.2:c.156-3800_156-3799del	NM_001351117.2:c.156-3799del	NM_001351117.2:c.156-3799dup	NM_001351117.2:c.156-3803_156-3799dup
NSUN6 transcript variant 5	NM_001351118.2:c.-112-3799=	NM_001351118.2:c.-112-3801_-112-3799del	NM_001351118.2:c.-112-3800_-112-3799del	NM_001351118.2:c.-112-3799del	NM_001351118.2:c.-112-3799dup	NM_001351118.2:c.-112-3803_-112-3799dup
NSUN6 transcript	NM_182543.2:c.312-3799=	NM_182543.2:c.312-3801_312-3799del	NM_182543.2:c.312-3800_312-3799del	NM_182543.2:c.312-3799del	NM_182543.2:c.312-3799dup	NM_182543.2:c.312-3803_312-3799dup
NSUN6 transcript variant 1	NM_182543.5:c.312-3799=	NM_182543.5:c.312-3801_312-3799del	NM_182543.5:c.312-3800_312-3799del	NM_182543.5:c.312-3799del	NM_182543.5:c.312-3799dup	NM_182543.5:c.312-3803_312-3799dup
NSUN6 transcript variant X1	XM_005252394.1:c.309-3799=	XM_005252394.1:c.309-3801_309-3799del	XM_005252394.1:c.309-3800_309-3799del	XM_005252394.1:c.309-3799del	XM_005252394.1:c.309-3799dup	XM_005252394.1:c.309-3803_309-3799dup
NSUN6 transcript variant X2	XM_005252395.1:c.276-3799=	XM_005252395.1:c.276-3801_276-3799del	XM_005252395.1:c.276-3800_276-3799del	XM_005252395.1:c.276-3799del	XM_005252395.1:c.276-3799dup	XM_005252395.1:c.276-3803_276-3799dup
NSUN6 transcript variant X3	XM_005252396.1:c.276-3799=	XM_005252396.1:c.276-3801_276-3799del	XM_005252396.1:c.276-3800_276-3799del	XM_005252396.1:c.276-3799del	XM_005252396.1:c.276-3799dup	XM_005252396.1:c.276-3803_276-3799dup
NSUN6 transcript variant X4	XM_005252397.1:c.156-3799=	XM_005252397.1:c.156-3801_156-3799del	XM_005252397.1:c.156-3800_156-3799del	XM_005252397.1:c.156-3799del	XM_005252397.1:c.156-3799dup	XM_005252397.1:c.156-3803_156-3799dup
NSUN6 transcript variant X5	XM_005252398.1:c.15-3799=	XM_005252398.1:c.15-3801_15-3799del	XM_005252398.1:c.15-3800_15-3799del	XM_005252398.1:c.15-3799del	XM_005252398.1:c.15-3799dup	XM_005252398.1:c.15-3803_15-3799dup
NSUN6 transcript variant X6	XM_005252399.1:c.-112-3799=	XM_005252399.1:c.-112-3801_-112-3799del	XM_005252399.1:c.-112-3800_-112-3799del	XM_005252399.1:c.-112-3799del	XM_005252399.1:c.-112-3799dup	XM_005252399.1:c.-112-3803_-112-3799dup
NSUN6 transcript variant X2	XM_011519383.2:c.309-3799=	XM_011519383.2:c.309-3801_309-3799del	XM_011519383.2:c.309-3800_309-3799del	XM_011519383.2:c.309-3799del	XM_011519383.2:c.309-3799dup	XM_011519383.2:c.309-3803_309-3799dup
NSUN6 transcript variant X5	XM_011519384.2:c.276-3799=	XM_011519384.2:c.276-3801_276-3799del	XM_011519384.2:c.276-3800_276-3799del	XM_011519384.2:c.276-3799del	XM_011519384.2:c.276-3799dup	XM_011519384.2:c.276-3803_276-3799dup
NSUN6 transcript variant X3	XM_011519385.2:c.276-3799=	XM_011519385.2:c.276-3801_276-3799del	XM_011519385.2:c.276-3800_276-3799del	XM_011519385.2:c.276-3799del	XM_011519385.2:c.276-3799dup	XM_011519385.2:c.276-3803_276-3799dup
NSUN6 transcript variant X6	XM_011519386.3:c.276-3799=	XM_011519386.3:c.276-3801_276-3799del	XM_011519386.3:c.276-3800_276-3799del	XM_011519386.3:c.276-3799del	XM_011519386.3:c.276-3799dup	XM_011519386.3:c.276-3803_276-3799dup
NSUN6 transcript variant X10	XM_011519387.3:c.156-3799=	XM_011519387.3:c.156-3801_156-3799del	XM_011519387.3:c.156-3800_156-3799del	XM_011519387.3:c.156-3799del	XM_011519387.3:c.156-3799dup	XM_011519387.3:c.156-3803_156-3799dup
NSUN6 transcript variant X4	XM_017015907.3:c.276-3799=	XM_017015907.3:c.276-3801_276-3799del	XM_017015907.3:c.276-3800_276-3799del	XM_017015907.3:c.276-3799del	XM_017015907.3:c.276-3799dup	XM_017015907.3:c.276-3803_276-3799dup
NSUN6 transcript variant X15	XM_017015912.3:c.-113+2228=	XM_017015912.3:c.-113+2226_-113+2228del	XM_017015912.3:c.-113+2227_-113+2228del	XM_017015912.3:c.-113+2228del	XM_017015912.3:c.-113+2228dup	XM_017015912.3:c.-113+2224_-113+2228dup
NSUN6 transcript variant X7	XM_024447884.2:c.276-3799=	XM_024447884.2:c.276-3801_276-3799del	XM_024447884.2:c.276-3800_276-3799del	XM_024447884.2:c.276-3799del	XM_024447884.2:c.276-3799dup	XM_024447884.2:c.276-3803_276-3799dup
NSUN6 transcript variant X1	XM_047424777.1:c.312-3799=	XM_047424777.1:c.312-3801_312-3799del	XM_047424777.1:c.312-3800_312-3799del	XM_047424777.1:c.312-3799del	XM_047424777.1:c.312-3799dup	XM_047424777.1:c.312-3803_312-3799dup
NSUN6 transcript variant X8	XM_047424778.1:c.276-3799=	XM_047424778.1:c.276-3801_276-3799del	XM_047424778.1:c.276-3800_276-3799del	XM_047424778.1:c.276-3799del	XM_047424778.1:c.276-3799dup	XM_047424778.1:c.276-3803_276-3799dup
NSUN6 transcript variant X9	XM_047424779.1:c.273-3799=	XM_047424779.1:c.273-3801_273-3799del	XM_047424779.1:c.273-3800_273-3799del	XM_047424779.1:c.273-3799del	XM_047424779.1:c.273-3799dup	XM_047424779.1:c.273-3803_273-3799dup
NSUN6 transcript variant X11	XM_047424780.1:c.312-3799=	XM_047424780.1:c.312-3801_312-3799del	XM_047424780.1:c.312-3800_312-3799del	XM_047424780.1:c.312-3799del	XM_047424780.1:c.312-3799dup	XM_047424780.1:c.312-3803_312-3799dup
NSUN6 transcript variant X12	XM_047424781.1:c.15-3799=	XM_047424781.1:c.15-3801_15-3799del	XM_047424781.1:c.15-3800_15-3799del	XM_047424781.1:c.15-3799del	XM_047424781.1:c.15-3799dup	XM_047424781.1:c.15-3803_15-3799dup
NSUN6 transcript variant X13	XM_047424782.1:c.312-3799=	XM_047424782.1:c.312-3801_312-3799del	XM_047424782.1:c.312-3800_312-3799del	XM_047424782.1:c.312-3799del	XM_047424782.1:c.312-3799dup	XM_047424782.1:c.312-3803_312-3799dup
NSUN6 transcript variant X14	XM_047424783.1:c.-112-3799=	XM_047424783.1:c.-112-3801_-112-3799del	XM_047424783.1:c.-112-3800_-112-3799del	XM_047424783.1:c.-112-3799del	XM_047424783.1:c.-112-3799dup	XM_047424783.1:c.-112-3803_-112-3799dup
NSUN6 transcript variant X16	XM_047424784.1:c.312-3799=	XM_047424784.1:c.312-3801_312-3799del	XM_047424784.1:c.312-3800_312-3799del	XM_047424784.1:c.312-3799del	XM_047424784.1:c.312-3799dup	XM_047424784.1:c.312-3803_312-3799dup

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#.

53 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss39722501	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss95534851	Mar 15, 2016 (147)
3	GMI	ss287855584	Mar 15, 2016 (147)
4	GMI	ss289000485	May 04, 2012 (137)
5	PJP	ss294645455	Aug 21, 2014 (142)
6	PJP	ss294645456	Aug 21, 2014 (142)
7	SSMP	ss663969488	Apr 01, 2015 (144)
8	BILGI_BIOE	ss666492446	Apr 25, 2013 (138)
9	1000GENOMES	ss1369195863	Aug 21, 2014 (142)
10	EVA_GENOME_DK	ss1574157657	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1706659880	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1706659976	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710456951	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710456967	Apr 01, 2015 (144)
15	JJLAB	ss2031004689	Sep 14, 2016 (149)
16	SYSTEMSBIOZJU	ss2627481189	Nov 08, 2017 (151)
17	MCHAISSO	ss3063643292	Nov 08, 2017 (151)
18	MCHAISSO	ss3064463051	Nov 08, 2017 (151)
19	MCHAISSO	ss3065370578	Nov 08, 2017 (151)
20	URBANLAB	ss3649306272	Oct 12, 2018 (152)
21	EVA_DECODE	ss3689410207	Jul 13, 2019 (153)
22	EVA_DECODE	ss3689410208	Jul 13, 2019 (153)
23	EVA_DECODE	ss3689410209	Jul 13, 2019 (153)
24	EVA_DECODE	ss3689410210	Jul 13, 2019 (153)
25	ACPOP	ss3737118983	Jul 13, 2019 (153)
26	PACBIO	ss3786601497	Jul 13, 2019 (153)
27	PACBIO	ss3791791769	Jul 13, 2019 (153)
28	PACBIO	ss3796673682	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3813187448	Jul 13, 2019 (153)
30	EVA	ss3832003076	Apr 26, 2020 (154)
31	KOGIC	ss3967326049	Apr 26, 2020 (154)
32	KOGIC	ss3967326050	Apr 26, 2020 (154)
33	KOGIC	ss3967326051	Apr 26, 2020 (154)
34	KOGIC	ss3967326052	Apr 26, 2020 (154)
35	GNOMAD	ss4213996077	Apr 26, 2021 (155)
36	GNOMAD	ss4213996079	Apr 26, 2021 (155)
37	GNOMAD	ss4213996080	Apr 26, 2021 (155)
38	GNOMAD	ss4213996081	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5196546312	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5196546313	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5196546314	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5283144617	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5283144618	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5478900017	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5478900018	Oct 16, 2022 (156)
46	SANFORD_IMAGENETICS	ss5648803180	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5741477625	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5741477626	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5741477627	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5741477628	Oct 16, 2022 (156)
51	EVA	ss5824065465	Oct 16, 2022 (156)
52	EVA	ss5824065466	Oct 16, 2022 (156)
53	EVA	ss5849468131	Oct 16, 2022 (156)
54	1000Genomes	NC_000010.10 - 18909021	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 27162045 (NC_000010.10:18909021:T: 2857/3854) Row 27162046 (NC_000010.10:18909020:TTT: 153/3854)	-	Oct 12, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 27162045 (NC_000010.10:18909021:T: 2857/3854) Row 27162046 (NC_000010.10:18909020:TTT: 153/3854)	-	Oct 12, 2018 (152)
57	The Danish reference pan genome	NC_000010.10 - 18909021	Apr 26, 2020 (154)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345198302 (NC_000010.11:18620091::T 9/136038) Row 345198304 (NC_000010.11:18620091:T: 122/135994) Row 345198305 (NC_000010.11:18620091:TT: 104709/135896)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345198302 (NC_000010.11:18620091::T 9/136038) Row 345198304 (NC_000010.11:18620091:T: 122/135994) Row 345198305 (NC_000010.11:18620091:TT: 104709/135896)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345198302 (NC_000010.11:18620091::T 9/136038) Row 345198304 (NC_000010.11:18620091:T: 122/135994) Row 345198305 (NC_000010.11:18620091:TT: 104709/135896)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 345198302 (NC_000010.11:18620091::T 9/136038) Row 345198304 (NC_000010.11:18620091:T: 122/135994) Row 345198305 (NC_000010.11:18620091:TT: 104709/135896)...	-	Apr 26, 2021 (155)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 23704050 (NC_000010.11:18620092:TT: 1765/1832) Row 23704051 (NC_000010.11:18620093:T: 23/1832) Row 23704052 (NC_000010.11:18620091:TTT: 13/1832)...	-	Apr 26, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 23704050 (NC_000010.11:18620092:TT: 1765/1832) Row 23704051 (NC_000010.11:18620093:T: 23/1832) Row 23704052 (NC_000010.11:18620091:TTT: 13/1832)...	-	Apr 26, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 23704050 (NC_000010.11:18620092:TT: 1765/1832) Row 23704051 (NC_000010.11:18620093:T: 23/1832) Row 23704052 (NC_000010.11:18620091:TTT: 13/1832)...	-	Apr 26, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 23704050 (NC_000010.11:18620092:TT: 1765/1832) Row 23704051 (NC_000010.11:18620093:T: 23/1832) Row 23704052 (NC_000010.11:18620091:TTT: 13/1832)...	-	Apr 26, 2020 (154)
66	Northern Sweden	NC_000010.10 - 18909021	Jul 13, 2019 (153)
67	8.3KJPN Submission ignored due to conflicting rows: Row 54515619 (NC_000010.10:18909020:TT: 16481/16760) Row 54515620 (NC_000010.10:18909020:TTT: 11/16760) Row 54515621 (NC_000010.10:18909020::TTTTT 28/16760)	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 54515619 (NC_000010.10:18909020:TT: 16481/16760) Row 54515620 (NC_000010.10:18909020:TTT: 11/16760) Row 54515621 (NC_000010.10:18909020::TTTTT 28/16760)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 54515619 (NC_000010.10:18909020:TT: 16481/16760) Row 54515620 (NC_000010.10:18909020:TTT: 11/16760) Row 54515621 (NC_000010.10:18909020::TTTTT 28/16760)	-	Apr 26, 2021 (155)
70	14KJPN Submission ignored due to conflicting rows: Row 75314729 (NC_000010.11:18620091:TT: 27781/28258) Row 75314730 (NC_000010.11:18620091:TTT: 19/28258) Row 75314731 (NC_000010.11:18620091::TTTTT 51/28258)...	-	Oct 16, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 75314729 (NC_000010.11:18620091:TT: 27781/28258) Row 75314730 (NC_000010.11:18620091:TTT: 19/28258) Row 75314731 (NC_000010.11:18620091::TTTTT 51/28258)...	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 75314729 (NC_000010.11:18620091:TT: 27781/28258) Row 75314730 (NC_000010.11:18620091:TTT: 19/28258) Row 75314731 (NC_000010.11:18620091::TTTTT 51/28258)...	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 75314729 (NC_000010.11:18620091:TT: 27781/28258) Row 75314730 (NC_000010.11:18620091:TTT: 19/28258) Row 75314731 (NC_000010.11:18620091::TTTTT 51/28258)...	-	Oct 16, 2022 (156)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27162045 (NC_000010.10:18909021:T: 2771/3708) Row 27162046 (NC_000010.10:18909020:TTT: 110/3708)	-	Oct 12, 2018 (152)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 27162045 (NC_000010.10:18909021:T: 2771/3708) Row 27162046 (NC_000010.10:18909020:TTT: 110/3708)	-	Oct 12, 2018 (152)
76	ALFA	NC_000010.11 - 18620092	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)
rs10569020	May 11, 2012 (137)
rs35887584	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1706659880, ss1706659976, ss5196546313, ss5824065466	NC_000010.10:18909020:TTT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3689410207, ss3967326051, ss4213996081, ss5283144618, ss5478900017, ss5741477626	NC_000010.11:18620091:TTT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
5136104678	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss289000485, ss294645455	NC_000010.9:18949026:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss294645456	NC_000010.9:18949038:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
48880036, 224962, 10403848, ss663969488, ss666492446, ss1369195863, ss1574157657, ss2031004689, ss2627481189, ss3737118983, ss3786601497, ss3791791769, ss3796673682, ss3832003076, ss5196546312, ss5648803180, ss5824065465	NC_000010.10:18909020:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1710456951, ss1710456967	NC_000010.10:18909021:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3063643292, ss3064463051, ss3065370578, ss3649306272, ss3813187448, ss4213996080, ss5283144617, ss5478900018, ss5741477625, ss5849468131	NC_000010.11:18620091:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
5136104678	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3689410208, ss3967326049	NC_000010.11:18620092:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss287855584	NT_008705.16:18849020:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss39722501	NT_008705.16:18849032:TT:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
	NC_000010.10:18909021:T:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4213996079, ss5741477628	NC_000010.11:18620091:T:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
5136104678	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3689410209, ss3967326050	NC_000010.11:18620093:T:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss95534851	NT_008705.16:18849033:T:	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4213996077	NC_000010.11:18620091::T	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5136104678	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3689410210	NC_000010.11:18620094::T	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss95534851	NT_008705.16:18849033:T:TT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5196546314	NC_000010.10:18909020::TTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5741477627	NC_000010.11:18620091::TTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
ss3967326052	NC_000010.11:18620094::TTTTT	NC_000010.11:18620091:TTTTTTTTTTTT… NC_000010.11:18620091:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(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 rs200450047

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs200450047