Name: rs565767343
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.

rs565767343

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:58351252-58351274 (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)₁₂ / del(A)₁₁ / d…
del(A)₁₄ / del(A)₁₂ / del(A)₁₁ / 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)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.0000 (0/5598, ALFA)
del(A)₁₂=0.0000 (0/5598, ALFA)
del(A)₁₁=0.0000 (0/5598, ALFA) (+ 15 more)
del(A)₁₀=0.0000 (0/5598, ALFA)
del(A)₉=0.0000 (0/5598, ALFA)
del(A)₈=0.0000 (0/5598, ALFA)
del(A)₇=0.0000 (0/5598, ALFA)
del(A)₆=0.0000 (0/5598, ALFA)
del(A)₅=0.0000 (0/5598, ALFA)
del(A)₄=0.0000 (0/5598, ALFA)
delAAA=0.0000 (0/5598, ALFA)
delAA=0.0000 (0/5598, ALFA)
delA=0.0000 (0/5598, ALFA)
dupA=0.0000 (0/5598, ALFA)
dupAA=0.0000 (0/5598, ALFA)
dupAAA=0.0000 (0/5598, ALFA)
dup(A)₄=0.0000 (0/5598, ALFA)
delAAA=0.4519 (2263/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SUPT4H1 : Intron Variant
TSPOAP1-AS1 : 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	5598	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	3528	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1296	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	54	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1242	AAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	90	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	68	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	70	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	308	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	60	AAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	246	AAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=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, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=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	5598	(A)₂₃=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=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, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	3528	(A)₂₃=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=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, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	1296	(A)₂₃=1.0000	del(A)₁₄=0.0000, del(A)₁₂=0.0000, del(A)₁₁=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, dup(A)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	308	(A)₂₃=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₁₁=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, dup(A)₄=0.000
Allele Frequency Aggregator	Other	Sub	246	(A)₂₃=1.000	del(A)₁₄=0.000, del(A)₁₂=0.000, del(A)₁₁=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, dup(A)₄=0.000
Allele Frequency Aggregator	Asian	Sub	90	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=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, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	70	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=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, dup(A)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	60	(A)₂₃=1.00	del(A)₁₄=0.00, del(A)₁₂=0.00, del(A)₁₁=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, dup(A)₄=0.00
1000Genomes	Global	Study-wide	5008	(A)₂₃=0.5481	delAAA=0.4519
1000Genomes	African	Sub	1322	(A)₂₃=0.5121	delAAA=0.4879
1000Genomes	East Asian	Sub	1008	(A)₂₃=0.5437	delAAA=0.4563
1000Genomes	Europe	Sub	1006	(A)₂₃=0.5249	delAAA=0.4751
1000Genomes	South Asian	Sub	978	(A)₂₃=0.626	delAAA=0.374
1000Genomes	American	Sub	694	(A)₂₃=0.548	delAAA=0.452

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 17	NC_000017.11:g.58351261_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351263_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351264_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351265_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351266_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351267_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351268_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351269_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351270_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351271_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351272_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351273_58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351274del
GRCh38.p14 chr 17	NC_000017.11:g.58351274dup
GRCh38.p14 chr 17	NC_000017.11:g.58351273_58351274dup
GRCh38.p14 chr 17	NC_000017.11:g.58351272_58351274dup
GRCh38.p14 chr 17	NC_000017.11:g.58351271_58351274dup
GRCh38.p14 chr 17	NC_000017.11:g.58351270_58351274dup
GRCh38.p14 chr 17	NC_000017.11:g.58351268_58351274dup
GRCh37.p13 chr 17	NC_000017.10:g.56428622_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428624_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428625_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428626_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428627_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428628_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428629_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428630_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428631_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428632_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428633_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428634_56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428635del
GRCh37.p13 chr 17	NC_000017.10:g.56428635dup
GRCh37.p13 chr 17	NC_000017.10:g.56428634_56428635dup
GRCh37.p13 chr 17	NC_000017.10:g.56428633_56428635dup
GRCh37.p13 chr 17	NC_000017.10:g.56428632_56428635dup
GRCh37.p13 chr 17	NC_000017.10:g.56428631_56428635dup
GRCh37.p13 chr 17	NC_000017.10:g.56428629_56428635dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71318_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71320_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71321_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71322_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71323_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71324_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71325_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71326_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71327_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71328_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71329_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71330_71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71331del
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71331dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71330_71331dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71329_71331dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71328_71331dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71327_71331dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71325_71331dup

Gene: SUPT4H1, SPT4 homolog, DSIF elongation factor subunit (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SUPT4H1 transcript variant 1	NM_003168.3:c.176+137_176… NM_003168.3:c.176+137_176+150del	N/A	Intron Variant
SUPT4H1 transcript variant 2	NR_073470.2:n.	N/A	Intron Variant

Gene: TSPOAP1-AS1, TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSPOAP1-AS1 transcript variant 1	NR_038410.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 2	NR_038411.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 3	NR_038412.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 4	NR_038413.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 5	NR_038414.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 6	NR_038415.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 7	NR_038416.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 8	NR_038417.1:n.	N/A	Intron Variant
TSPOAP1-AS1 transcript variant 9	NR_038418.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₂₃=	del(A)₁₄	del(A)₁₂	del(A)₁₁	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)₇
GRCh38.p14 chr 17	NC_000017.11:g.58351252_58351274=	NC_000017.11:g.58351261_58351274del	NC_000017.11:g.58351263_58351274del	NC_000017.11:g.58351264_58351274del	NC_000017.11:g.58351265_58351274del	NC_000017.11:g.58351266_58351274del	NC_000017.11:g.58351267_58351274del	NC_000017.11:g.58351268_58351274del	NC_000017.11:g.58351269_58351274del	NC_000017.11:g.58351270_58351274del	NC_000017.11:g.58351271_58351274del	NC_000017.11:g.58351272_58351274del	NC_000017.11:g.58351273_58351274del	NC_000017.11:g.58351274del	NC_000017.11:g.58351274dup	NC_000017.11:g.58351273_58351274dup	NC_000017.11:g.58351272_58351274dup	NC_000017.11:g.58351271_58351274dup	NC_000017.11:g.58351270_58351274dup	NC_000017.11:g.58351268_58351274dup
GRCh37.p13 chr 17	NC_000017.10:g.56428613_56428635=	NC_000017.10:g.56428622_56428635del	NC_000017.10:g.56428624_56428635del	NC_000017.10:g.56428625_56428635del	NC_000017.10:g.56428626_56428635del	NC_000017.10:g.56428627_56428635del	NC_000017.10:g.56428628_56428635del	NC_000017.10:g.56428629_56428635del	NC_000017.10:g.56428630_56428635del	NC_000017.10:g.56428631_56428635del	NC_000017.10:g.56428632_56428635del	NC_000017.10:g.56428633_56428635del	NC_000017.10:g.56428634_56428635del	NC_000017.10:g.56428635del	NC_000017.10:g.56428635dup	NC_000017.10:g.56428634_56428635dup	NC_000017.10:g.56428633_56428635dup	NC_000017.10:g.56428632_56428635dup	NC_000017.10:g.56428631_56428635dup	NC_000017.10:g.56428629_56428635dup
RNF43 RefSeqGene (LRG_1026)	NG_042894.1:g.71309_71331=	NG_042894.1:g.71318_71331del	NG_042894.1:g.71320_71331del	NG_042894.1:g.71321_71331del	NG_042894.1:g.71322_71331del	NG_042894.1:g.71323_71331del	NG_042894.1:g.71324_71331del	NG_042894.1:g.71325_71331del	NG_042894.1:g.71326_71331del	NG_042894.1:g.71327_71331del	NG_042894.1:g.71328_71331del	NG_042894.1:g.71329_71331del	NG_042894.1:g.71330_71331del	NG_042894.1:g.71331del	NG_042894.1:g.71331dup	NG_042894.1:g.71330_71331dup	NG_042894.1:g.71329_71331dup	NG_042894.1:g.71328_71331dup	NG_042894.1:g.71327_71331dup	NG_042894.1:g.71325_71331dup
SUPT4H1 transcript variant 1	NM_003168.2:c.176+150=	NM_003168.2:c.176+137_176+150del	NM_003168.2:c.176+139_176+150del	NM_003168.2:c.176+140_176+150del	NM_003168.2:c.176+141_176+150del	NM_003168.2:c.176+142_176+150del	NM_003168.2:c.176+143_176+150del	NM_003168.2:c.176+144_176+150del	NM_003168.2:c.176+145_176+150del	NM_003168.2:c.176+146_176+150del	NM_003168.2:c.176+147_176+150del	NM_003168.2:c.176+148_176+150del	NM_003168.2:c.176+149_176+150del	NM_003168.2:c.176+150del	NM_003168.2:c.176+150dup	NM_003168.2:c.176+149_176+150dup	NM_003168.2:c.176+148_176+150dup	NM_003168.2:c.176+147_176+150dup	NM_003168.2:c.176+146_176+150dup	NM_003168.2:c.176+144_176+150dup
SUPT4H1 transcript variant 1	NM_003168.3:c.176+150=	NM_003168.3:c.176+137_176+150del	NM_003168.3:c.176+139_176+150del	NM_003168.3:c.176+140_176+150del	NM_003168.3:c.176+141_176+150del	NM_003168.3:c.176+142_176+150del	NM_003168.3:c.176+143_176+150del	NM_003168.3:c.176+144_176+150del	NM_003168.3:c.176+145_176+150del	NM_003168.3:c.176+146_176+150del	NM_003168.3:c.176+147_176+150del	NM_003168.3:c.176+148_176+150del	NM_003168.3:c.176+149_176+150del	NM_003168.3:c.176+150del	NM_003168.3:c.176+150dup	NM_003168.3:c.176+149_176+150dup	NM_003168.3:c.176+148_176+150dup	NM_003168.3:c.176+147_176+150dup	NM_003168.3:c.176+146_176+150dup	NM_003168.3:c.176+144_176+150dup

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#.

58 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40850072	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss95697467	Mar 15, 2016 (147)
3	HUMANGENOME_JCVI	ss96569624	Mar 15, 2016 (147)
4	1000GENOMES	ss1376786146	Aug 21, 2014 (142)
5	EVA_UK10K_ALSPAC	ss1708801454	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1708801488	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710737243	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710737244	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710737245	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710737246	Apr 01, 2015 (144)
11	SWEGEN	ss3015712901	Nov 08, 2017 (151)
12	MCHAISSO	ss3063872551	Nov 08, 2017 (151)
13	URBANLAB	ss3650678467	Oct 12, 2018 (152)
14	EVA_DECODE	ss3700681667	Jul 13, 2019 (153)
15	EVA_DECODE	ss3700681668	Jul 13, 2019 (153)
16	EVA_DECODE	ss3700681669	Jul 13, 2019 (153)
17	EVA_DECODE	ss3700681670	Jul 13, 2019 (153)
18	EVA_DECODE	ss3700681671	Jul 13, 2019 (153)
19	EVA_DECODE	ss3700681672	Jul 13, 2019 (153)
20	KHV_HUMAN_GENOMES	ss3820060772	Jul 13, 2019 (153)
21	EVA	ss3834921214	Apr 27, 2020 (154)
22	EVA	ss3841073502	Apr 27, 2020 (154)
23	GNOMAD	ss4313515406	Apr 26, 2021 (155)
24	GNOMAD	ss4313515407	Apr 26, 2021 (155)
25	GNOMAD	ss4313515408	Apr 26, 2021 (155)
26	GNOMAD	ss4313515409	Apr 26, 2021 (155)
27	GNOMAD	ss4313515410	Apr 26, 2021 (155)
28	GNOMAD	ss4313515411	Apr 26, 2021 (155)
29	GNOMAD	ss4313515412	Apr 26, 2021 (155)
30	GNOMAD	ss4313515413	Apr 26, 2021 (155)
31	GNOMAD	ss4313515414	Apr 26, 2021 (155)
32	GNOMAD	ss4313515415	Apr 26, 2021 (155)
33	GNOMAD	ss4313515416	Apr 26, 2021 (155)
34	GNOMAD	ss4313515417	Apr 26, 2021 (155)
35	GNOMAD	ss4313515418	Apr 26, 2021 (155)
36	GNOMAD	ss4313515419	Apr 26, 2021 (155)
37	GNOMAD	ss4313515420	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5222923696	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5222923697	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5222923698	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5222923699	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5222923700	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5303512052	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5303512053	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5303512054	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5303512055	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5303512056	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5496521574	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5496521575	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5496521576	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5496521577	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5496521578	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5496521579	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5779289575	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5779289576	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5779289577	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5779289579	Oct 16, 2022 (156)
58	EVA	ss5980975046	Oct 16, 2022 (156)
59	1000Genomes	NC_000017.10 - 56428613	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40087173 (NC_000017.10:56428612:AAAA: 494/3854) Row 40087175 (NC_000017.10:56428613:AA: 1821/3854)	-	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40087173 (NC_000017.10:56428612:AAAA: 494/3854) Row 40087175 (NC_000017.10:56428613:AA: 1821/3854)	-	Oct 12, 2018 (152)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 510413442 (NC_000017.11:58351251::A 2042/78272) Row 510413443 (NC_000017.11:58351251::AA 33/79056) Row 510413444 (NC_000017.11:58351251::AAA 1/79118)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 80893003 (NC_000017.10:56428612:AAA: 3488/16654) Row 80893004 (NC_000017.10:56428612:A: 40/16654) Row 80893005 (NC_000017.10:56428612::A 182/16654)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 80893003 (NC_000017.10:56428612:AAA: 3488/16654) Row 80893004 (NC_000017.10:56428612:A: 40/16654) Row 80893005 (NC_000017.10:56428612::A 182/16654)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 80893003 (NC_000017.10:56428612:AAA: 3488/16654) Row 80893004 (NC_000017.10:56428612:A: 40/16654) Row 80893005 (NC_000017.10:56428612::A 182/16654)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 80893003 (NC_000017.10:56428612:AAA: 3488/16654) Row 80893004 (NC_000017.10:56428612:A: 40/16654) Row 80893005 (NC_000017.10:56428612::A 182/16654)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 80893003 (NC_000017.10:56428612:AAA: 3488/16654) Row 80893004 (NC_000017.10:56428612:A: 40/16654) Row 80893005 (NC_000017.10:56428612::A 182/16654)...	-	Apr 26, 2021 (155)
83	14KJPN Submission ignored due to conflicting rows: Row 113126679 (NC_000017.11:58351251:AAA: 5772/27408) Row 113126680 (NC_000017.11:58351251:A: 56/27408) Row 113126681 (NC_000017.11:58351251::A 230/27408)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 113126679 (NC_000017.11:58351251:AAA: 5772/27408) Row 113126680 (NC_000017.11:58351251:A: 56/27408) Row 113126681 (NC_000017.11:58351251::A 230/27408)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 113126679 (NC_000017.11:58351251:AAA: 5772/27408) Row 113126680 (NC_000017.11:58351251:A: 56/27408) Row 113126681 (NC_000017.11:58351251::A 230/27408)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 113126679 (NC_000017.11:58351251:AAA: 5772/27408) Row 113126680 (NC_000017.11:58351251:A: 56/27408) Row 113126681 (NC_000017.11:58351251::A 230/27408)...	-	Oct 16, 2022 (156)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40087173 (NC_000017.10:56428612:AAAA: 512/3708) Row 40087175 (NC_000017.10:56428613:AA: 1690/3708)	-	Oct 12, 2018 (152)
88	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40087173 (NC_000017.10:56428612:AAAA: 512/3708) Row 40087174 (NC_000017.10:56428614:AA: 1284/3708) Row 40087175 (NC_000017.10:56428613:AAA: 1690/3708)	-	Apr 27, 2020 (154)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40087173 (NC_000017.10:56428612:AAAA: 512/3708) Row 40087175 (NC_000017.10:56428613:AA: 1690/3708)	-	Oct 12, 2018 (152)
90	ALFA	NC_000017.11 - 58351252	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)
rs35320225	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4313515420	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4313515419	NC_000017.11:58351251:AAAAAAAAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4313515418	NC_000017.11:58351251:AAAAAAAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4313515417, ss5496521579	NC_000017.11:58351251:AAAAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4313515416	NC_000017.11:58351251:AAAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4313515415	NC_000017.11:58351251:AAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3700681672, ss4313515414	NC_000017.11:58351251:AAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1708801454, ss1708801488, ss3015712901, ss5222923699	NC_000017.10:56428612:AAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4313515413, ss5303512056, ss5496521574	NC_000017.11:58351251:AAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3700681671	NC_000017.11:58351252:AAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
72336834, ss1376786146, ss3841073502, ss5222923696	NC_000017.10:56428612:AAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1710737245, ss1710737246	NC_000017.10:56428613:AAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3063872551, ss3650678467, ss3820060772, ss4313515412, ss5303512054, ss5496521575, ss5779289575	NC_000017.11:58351251:AAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3700681670	NC_000017.11:58351253:AAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss40850072, ss95697467, ss96569624	NT_010783.15:21702784:AAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3834921214, ss5222923700, ss5980975046	NC_000017.10:56428612:AA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000017.10:56428613:AA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1710737243, ss1710737244	NC_000017.10:56428614:AA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4313515411, ss5303512055, ss5496521576, ss5779289579	NC_000017.11:58351251:AA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3700681669	NC_000017.11:58351254:AA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5222923697	NC_000017.10:56428612:A:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5303512053, ss5496521577, ss5779289576	NC_000017.11:58351251:A:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700681668	NC_000017.11:58351255:A:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5222923698	NC_000017.10:56428612::A	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4313515406, ss5303512052, ss5496521578, ss5779289577	NC_000017.11:58351251::A	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3700681667	NC_000017.11:58351256::A	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4313515407	NC_000017.11:58351251::AA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4313515408	NC_000017.11:58351251::AAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
1195104063	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4313515409	NC_000017.11:58351251::AAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4313515410	NC_000017.11:58351251::AAAAAAA	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3265686494	NC_000017.11:58351251:AAAAAAAAA:	NC_000017.11:58351251:AAAAAAAAAAAA… NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

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

No publications for rs565767343

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

rs565767343