Name: rs376259589
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.

rs376259589

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:23213253-23213273 (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(T)₁₀ / del(T)₈ / del(T)₅ / del…
del(T)₁₀ / del(T)₈ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₀=0.000008 (2/264690, TOPMED)
dupT=0.00094 (17/17998, ALFA)
dupT=0.15 (6/40, GENOME_DK) (+ 1 more)
(T)₂₁=0.4 (3/8, KOREAN)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SCNN1G : 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	17998	TTTTTTTTTTTTTTTTTTTTT=0.99839	TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00094, TTTTTTTTTTTTTTTTTTTTTTT=0.00044, TTTTTTTTTTTTTTTTTTTTTTTT=0.00022	0.998331	0.000223	0.001446	32
European	Sub	13990	TTTTTTTTTTTTTTTTTTTTT=0.99793	TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00122, TTTTTTTTTTTTTTTTTTTTTTT=0.00057, TTTTTTTTTTTTTTTTTTTTTTTT=0.00029	0.997852	0.000286	0.001861	32
African	Sub	2614	TTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	102	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2512	TTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	96	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	146	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	592	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	80	TTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	480	TTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₂₁=0.999992	del(T)₁₀=0.000008
Allele Frequency Aggregator	Total	Global	17998	(T)₂₁=0.99839	del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00094, dupTT=0.00044, dupTTT=0.00022
Allele Frequency Aggregator	European	Sub	13990	(T)₂₁=0.99793	del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00122, dupTT=0.00057, dupTTT=0.00029
Allele Frequency Aggregator	African	Sub	2614	(T)₂₁=1.0000	del(T)₁₀=0.0000, del(T)₈=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	592	(T)₂₁=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	480	(T)₂₁=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(T)₂₁=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Asian	Sub	96	(T)₂₁=1.00	del(T)₁₀=0.00, del(T)₈=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	80	(T)₂₁=1.00	del(T)₁₀=0.00, del(T)₈=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.15
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	dupT=0.6

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 16	NC_000016.10:g.23213264_23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213266_23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213269_23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213270_23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213271_23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213272_23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213273del
GRCh38.p14 chr 16	NC_000016.10:g.23213273dup
GRCh38.p14 chr 16	NC_000016.10:g.23213272_23213273dup
GRCh38.p14 chr 16	NC_000016.10:g.23213271_23213273dup
GRCh38.p14 chr 16	NC_000016.10:g.23213270_23213273dup
GRCh38.p14 chr 16	NC_000016.10:g.23213269_23213273dup
GRCh38.p14 chr 16	NC_000016.10:g.23213267_23213273dup
GRCh37.p13 chr 16	NC_000016.9:g.23224585_23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224587_23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224590_23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224591_23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224592_23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224593_23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224594del
GRCh37.p13 chr 16	NC_000016.9:g.23224594dup
GRCh37.p13 chr 16	NC_000016.9:g.23224593_23224594dup
GRCh37.p13 chr 16	NC_000016.9:g.23224592_23224594dup
GRCh37.p13 chr 16	NC_000016.9:g.23224591_23224594dup
GRCh37.p13 chr 16	NC_000016.9:g.23224590_23224594dup
GRCh37.p13 chr 16	NC_000016.9:g.23224588_23224594dup
SCNN1G RefSeqGene	NG_011909.1:g.35546_35555del
SCNN1G RefSeqGene	NG_011909.1:g.35548_35555del
SCNN1G RefSeqGene	NG_011909.1:g.35551_35555del
SCNN1G RefSeqGene	NG_011909.1:g.35552_35555del
SCNN1G RefSeqGene	NG_011909.1:g.35553_35555del
SCNN1G RefSeqGene	NG_011909.1:g.35554_35555del
SCNN1G RefSeqGene	NG_011909.1:g.35555del
SCNN1G RefSeqGene	NG_011909.1:g.35555dup
SCNN1G RefSeqGene	NG_011909.1:g.35554_35555dup
SCNN1G RefSeqGene	NG_011909.1:g.35553_35555dup
SCNN1G RefSeqGene	NG_011909.1:g.35552_35555dup
SCNN1G RefSeqGene	NG_011909.1:g.35551_35555dup
SCNN1G RefSeqGene	NG_011909.1:g.35549_35555dup

Gene: SCNN1G, sodium channel epithelial 1 subunit gamma (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SCNN1G transcript	NM_001039.4:c.1493+101_14… NM_001039.4:c.1493+101_1493+110del	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.

Allele: dupT (allele ID: 1191779 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001566756.3	not provided	Likely-Benign

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)₂₁=	del(T)₁₀	del(T)₈	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₇
GRCh38.p14 chr 16	NC_000016.10:g.23213253_23213273=	NC_000016.10:g.23213264_23213273del	NC_000016.10:g.23213266_23213273del	NC_000016.10:g.23213269_23213273del	NC_000016.10:g.23213270_23213273del	NC_000016.10:g.23213271_23213273del	NC_000016.10:g.23213272_23213273del	NC_000016.10:g.23213273del	NC_000016.10:g.23213273dup	NC_000016.10:g.23213272_23213273dup	NC_000016.10:g.23213271_23213273dup	NC_000016.10:g.23213270_23213273dup	NC_000016.10:g.23213269_23213273dup	NC_000016.10:g.23213267_23213273dup
GRCh37.p13 chr 16	NC_000016.9:g.23224574_23224594=	NC_000016.9:g.23224585_23224594del	NC_000016.9:g.23224587_23224594del	NC_000016.9:g.23224590_23224594del	NC_000016.9:g.23224591_23224594del	NC_000016.9:g.23224592_23224594del	NC_000016.9:g.23224593_23224594del	NC_000016.9:g.23224594del	NC_000016.9:g.23224594dup	NC_000016.9:g.23224593_23224594dup	NC_000016.9:g.23224592_23224594dup	NC_000016.9:g.23224591_23224594dup	NC_000016.9:g.23224590_23224594dup	NC_000016.9:g.23224588_23224594dup
SCNN1G RefSeqGene	NG_011909.1:g.35535_35555=	NG_011909.1:g.35546_35555del	NG_011909.1:g.35548_35555del	NG_011909.1:g.35551_35555del	NG_011909.1:g.35552_35555del	NG_011909.1:g.35553_35555del	NG_011909.1:g.35554_35555del	NG_011909.1:g.35555del	NG_011909.1:g.35555dup	NG_011909.1:g.35554_35555dup	NG_011909.1:g.35553_35555dup	NG_011909.1:g.35552_35555dup	NG_011909.1:g.35551_35555dup	NG_011909.1:g.35549_35555dup
SCNN1G transcript	NM_001039.3:c.1493+90=	NM_001039.3:c.1493+101_1493+110del	NM_001039.3:c.1493+103_1493+110del	NM_001039.3:c.1493+106_1493+110del	NM_001039.3:c.1493+107_1493+110del	NM_001039.3:c.1493+108_1493+110del	NM_001039.3:c.1493+109_1493+110del	NM_001039.3:c.1493+110del	NM_001039.3:c.1493+110dup	NM_001039.3:c.1493+109_1493+110dup	NM_001039.3:c.1493+108_1493+110dup	NM_001039.3:c.1493+107_1493+110dup	NM_001039.3:c.1493+106_1493+110dup	NM_001039.3:c.1493+104_1493+110dup
SCNN1G transcript	NM_001039.4:c.1493+90=	NM_001039.4:c.1493+101_1493+110del	NM_001039.4:c.1493+103_1493+110del	NM_001039.4:c.1493+106_1493+110del	NM_001039.4:c.1493+107_1493+110del	NM_001039.4:c.1493+108_1493+110del	NM_001039.4:c.1493+109_1493+110del	NM_001039.4:c.1493+110del	NM_001039.4:c.1493+110dup	NM_001039.4:c.1493+109_1493+110dup	NM_001039.4:c.1493+108_1493+110dup	NM_001039.4:c.1493+107_1493+110dup	NM_001039.4:c.1493+106_1493+110dup	NM_001039.4:c.1493+104_1493+110dup
SCNN1G transcript variant X1	XM_005255468.1:c.1493+90=	XM_005255468.1:c.1493+101_1493+110del	XM_005255468.1:c.1493+103_1493+110del	XM_005255468.1:c.1493+106_1493+110del	XM_005255468.1:c.1493+107_1493+110del	XM_005255468.1:c.1493+108_1493+110del	XM_005255468.1:c.1493+109_1493+110del	XM_005255468.1:c.1493+110del	XM_005255468.1:c.1493+110dup	XM_005255468.1:c.1493+109_1493+110dup	XM_005255468.1:c.1493+108_1493+110dup	XM_005255468.1:c.1493+107_1493+110dup	XM_005255468.1:c.1493+106_1493+110dup	XM_005255468.1:c.1493+104_1493+110dup
SCNN1G transcript variant X2	XM_005255469.1:c.1394+90=	XM_005255469.1:c.1394+101_1394+110del	XM_005255469.1:c.1394+103_1394+110del	XM_005255469.1:c.1394+106_1394+110del	XM_005255469.1:c.1394+107_1394+110del	XM_005255469.1:c.1394+108_1394+110del	XM_005255469.1:c.1394+109_1394+110del	XM_005255469.1:c.1394+110del	XM_005255469.1:c.1394+110dup	XM_005255469.1:c.1394+109_1394+110dup	XM_005255469.1:c.1394+108_1394+110dup	XM_005255469.1:c.1394+107_1394+110dup	XM_005255469.1:c.1394+106_1394+110dup	XM_005255469.1:c.1394+104_1394+110dup

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#.

38 SubSNP, 27 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WARNICH_LAB	ss678411995	Apr 25, 2013 (138)
2	SSIP	ss947354031	Aug 21, 2014 (142)
3	EVA_GENOME_DK	ss1574938803	Apr 01, 2015 (144)
4	SWEGEN	ss3014241725	Nov 08, 2017 (151)
5	EVA_DECODE	ss3699028896	Jul 13, 2019 (153)
6	KRGDB	ss3933497901	Apr 27, 2020 (154)
7	KOGIC	ss3977289285	Apr 27, 2020 (154)
8	KOGIC	ss3977289286	Apr 27, 2020 (154)
9	KOGIC	ss3977289287	Apr 27, 2020 (154)
10	KOGIC	ss3977289288	Apr 27, 2020 (154)
11	GNOMAD	ss4298573294	Apr 26, 2021 (155)
12	GNOMAD	ss4298573295	Apr 26, 2021 (155)
13	GNOMAD	ss4298573296	Apr 26, 2021 (155)
14	GNOMAD	ss4298573297	Apr 26, 2021 (155)
15	GNOMAD	ss4298573298	Apr 26, 2021 (155)
16	GNOMAD	ss4298573299	Apr 26, 2021 (155)
17	GNOMAD	ss4298573300	Apr 26, 2021 (155)
18	GNOMAD	ss4298573301	Apr 26, 2021 (155)
19	GNOMAD	ss4298573302	Apr 26, 2021 (155)
20	GNOMAD	ss4298573303	Apr 26, 2021 (155)
21	GNOMAD	ss4298573304	Apr 26, 2021 (155)
22	TOPMED	ss5011014936	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5218918446	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5218918447	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5218918448	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5218918449	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5300493810	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5493947256	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5493947257	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5493947258	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5493947259	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5493947260	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5773541851	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5773541852	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5773541853	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5773541855	Oct 16, 2022 (156)
37	TMC_SNPDB2	ss5847075874	Oct 16, 2022 (156)
38	TMC_SNPDB2	ss5847075875	Oct 16, 2022 (156)
39	The Danish reference pan genome	NC_000016.9 - 23224574	Apr 27, 2020 (154)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 485711918 (NC_000016.10:23213252::T 1750/112154) Row 485711919 (NC_000016.10:23213252::TT 71/112164) Row 485711920 (NC_000016.10:23213252::TTT 23/112170)...	-	Apr 26, 2021 (155)
51	KOREAN population from KRGDB	NC_000016.9 - 23224574	Apr 27, 2020 (154)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 33667286 (NC_000016.10:23213254::T 310/1832) Row 33667287 (NC_000016.10:23213252:TT: 44/1832) Row 33667288 (NC_000016.10:23213253:T: 135/1832)...	-	Apr 27, 2020 (154)
53	Korean Genome Project Submission ignored due to conflicting rows: Row 33667286 (NC_000016.10:23213254::T 310/1832) Row 33667287 (NC_000016.10:23213252:TT: 44/1832) Row 33667288 (NC_000016.10:23213253:T: 135/1832)...	-	Apr 27, 2020 (154)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 33667286 (NC_000016.10:23213254::T 310/1832) Row 33667287 (NC_000016.10:23213252:TT: 44/1832) Row 33667288 (NC_000016.10:23213253:T: 135/1832)...	-	Apr 27, 2020 (154)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 33667286 (NC_000016.10:23213254::T 310/1832) Row 33667287 (NC_000016.10:23213252:TT: 44/1832) Row 33667288 (NC_000016.10:23213253:T: 135/1832)...	-	Apr 27, 2020 (154)
56	8.3KJPN Submission ignored due to conflicting rows: Row 76887753 (NC_000016.9:23224573::T 312/16706) Row 76887754 (NC_000016.9:23224573:TT: 135/16706) Row 76887755 (NC_000016.9:23224573:T: 39/16706)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 76887753 (NC_000016.9:23224573::T 312/16706) Row 76887754 (NC_000016.9:23224573:TT: 135/16706) Row 76887755 (NC_000016.9:23224573:T: 39/16706)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 76887753 (NC_000016.9:23224573::T 312/16706) Row 76887754 (NC_000016.9:23224573:TT: 135/16706) Row 76887755 (NC_000016.9:23224573:T: 39/16706)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 76887753 (NC_000016.9:23224573::T 312/16706) Row 76887754 (NC_000016.9:23224573:TT: 135/16706) Row 76887755 (NC_000016.9:23224573:T: 39/16706)...	-	Apr 26, 2021 (155)
60	14KJPN Submission ignored due to conflicting rows: Row 107378955 (NC_000016.10:23213252::T 534/28080) Row 107378956 (NC_000016.10:23213252:TT: 239/28080) Row 107378957 (NC_000016.10:23213252:T: 58/28080)...	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 107378955 (NC_000016.10:23213252::T 534/28080) Row 107378956 (NC_000016.10:23213252:TT: 239/28080) Row 107378957 (NC_000016.10:23213252:T: 58/28080)...	-	Oct 16, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 107378955 (NC_000016.10:23213252::T 534/28080) Row 107378956 (NC_000016.10:23213252:TT: 239/28080) Row 107378957 (NC_000016.10:23213252:T: 58/28080)...	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 107378955 (NC_000016.10:23213252::T 534/28080) Row 107378956 (NC_000016.10:23213252:TT: 239/28080) Row 107378957 (NC_000016.10:23213252:T: 58/28080)...	-	Oct 16, 2022 (156)
64	TopMed	NC_000016.10 - 23213253	Apr 26, 2021 (155)
65	ALFA	NC_000016.10 - 23213253	Apr 26, 2021 (155)
66	ClinVar	RCV001566756.3	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
226560597, ss4298573304, ss5011014936	NC_000016.10:23213252:TTTTTTTTTT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4298573303	NC_000016.10:23213252:TTTTTTTT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5847075875	NC_000016.10:23213252:TTTTT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4298573302, ss5493947259	NC_000016.10:23213252:TTTT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4298573301, ss5493947260	NC_000016.10:23213252:TTT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5218918447	NC_000016.9:23224573:TT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3977289286, ss4298573300, ss5773541852	NC_000016.10:23213252:TT:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3014241725, ss5218918448	NC_000016.9:23224573:T:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4298573299, ss5493947256, ss5773541853	NC_000016.10:23213252:T:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3977289287	NC_000016.10:23213253:T:	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
521673, 40675295, ss678411995, ss947354031, ss1574938803, ss3933497901, ss5218918446	NC_000016.9:23224573::T	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4298573294, ss5300493810, ss5493947257, ss5773541851	NC_000016.10:23213252::T	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
RCV001566756.3, 6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3977289285	NC_000016.10:23213254::T	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5218918449	NC_000016.9:23224573::TT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4298573295, ss5493947258, ss5773541855	NC_000016.10:23213252::TT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3977289288	NC_000016.10:23213254::TT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4298573296	NC_000016.10:23213252::TTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
6451703835	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3699028896	NC_000016.10:23213273::TTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4298573297	NC_000016.10:23213252::TTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4298573298	NC_000016.10:23213252::TTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5847075874	NC_000016.10:23213252::TTTTTTT	NC_000016.10:23213252:TTTTTTTTTTTT… NC_000016.10:23213252:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

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

No publications for rs376259589

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

rs376259589