Name: rs375874645
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.

rs375874645

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:184881102-184881127 (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(CA)₆ / del(CA)₅ / del(CA)₃ / d…
del(CA)₆ / del(CA)₅ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(CA)₃=0.000015 (4/264690, TOPMED)
dupCA=0.02461 (331/13452, ALFA)
dupCA=0.1498 (750/5008, 1000G) (+ 1 more)
dupCA=0.111 (24/216, Vietnamese)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NIBAN1 : 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	13452	CACACACACACACACACACACACACA=0.97428	CACACACACACACA=0.00000, CACACACACACACACACACA=0.00000, CACACACACACACACACACACA=0.00000, CACACACACACACACACACACACA=0.00082, CACACACACACACACACACACACACACA=0.02461, CACACACACACACACACACACACACACACA=0.00030, CACACACACACACACACACACACACACACACA=0.00000, CACACACACACACACACACACACACACACACACA=0.00000	0.952473	0.001639	0.045888	7
European	Sub	11188	CACACACACACACACACACACACACA=0.96907	CACACACACACACA=0.00000, CACACACACACACACACACA=0.00000, CACACACACACACACACACACA=0.00000, CACACACACACACACACACACACA=0.00098, CACACACACACACACACACACACACACA=0.02959, CACACACACACACACACACACACACACACA=0.00036, CACACACACACACACACACACACACACACACA=0.00000, CACACACACACACACACACACACACACACACACA=0.00000	0.942832	0.001971	0.055197	5
African	Sub	1092	CACACACACACACACACACACACACA=1.0000	CACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	16	CACACACACACACACACACACACACA=1.00	CACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1076	CACACACACACACACACACACACACA=1.0000	CACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	84	CACACACACACACACACACACACACA=1.00	CACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	70	CACACACACACACACACACACACACA=1.00	CACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	CACACACACACACACACACACACACA=1.00	CACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	102	CACACACACACACACACACACACACA=1.000	CACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	536	CACACACACACACACACACACACACA=1.000	CACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	86	CACACACACACACACACACACACACA=1.00	CACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	364	CACACACACACACACACACACACACA=1.000	CACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=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	(CA)₁₃=0.999985	del(CA)₃=0.000015
Allele Frequency Aggregator	Total	Global	13452	(CA)₁₃=0.97428	del(CA)₆=0.00000, del(CA)₃=0.00000, delCACA=0.00000, delCA=0.00082, dupCA=0.02461, dupCACA=0.00030, dup(CA)₃=0.00000, dup(CA)₄=0.00000
Allele Frequency Aggregator	European	Sub	11188	(CA)₁₃=0.96907	del(CA)₆=0.00000, del(CA)₃=0.00000, delCACA=0.00000, delCA=0.00098, dupCA=0.02959, dupCACA=0.00036, dup(CA)₃=0.00000, dup(CA)₄=0.00000
Allele Frequency Aggregator	African	Sub	1092	(CA)₁₃=1.0000	del(CA)₆=0.0000, del(CA)₃=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	536	(CA)₁₃=1.000	del(CA)₆=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Other	Sub	364	(CA)₁₃=1.000	del(CA)₆=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	102	(CA)₁₃=1.000	del(CA)₆=0.000, del(CA)₃=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)₃=0.000, dup(CA)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	86	(CA)₁₃=1.00	del(CA)₆=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00
Allele Frequency Aggregator	Asian	Sub	84	(CA)₁₃=1.00	del(CA)₆=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupCA=0.1498
1000Genomes	African	Sub	1322	- No frequency provided	dupCA=0.3631
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupCA=0.1161
1000Genomes	Europe	Sub	1006	- No frequency provided	dupCA=0.0606
1000Genomes	South Asian	Sub	978	- No frequency provided	dupCA=0.044
1000Genomes	American	Sub	694	- No frequency provided	dupCA=0.071
A Vietnamese Genetic Variation Database	Global	Study-wide	216	- No frequency provided	dupCA=0.111

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[7]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[8]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[10]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[11]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[12]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[14]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[15]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[16]
GRCh38.p14 chr 1	NC_000001.11:g.184881102CA[17]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[7]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[8]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[10]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[11]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[12]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[14]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[15]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[16]
GRCh37.p13 chr 1	NC_000001.10:g.184850236CA[17]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[7]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[8]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[10]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[11]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[12]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[14]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[15]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[16]
NIBAN1 RefSeqGene	NG_051588.1:g.98460TG[17]

Gene: NIBAN1, niban apoptosis regulator 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NIBAN1 transcript	NM_052966.4:c.601+3506TG[… NM_052966.4:c.601+3506TG[7]	N/A	Intron Variant
NIBAN1 transcript variant X1	XM_047444091.1:c.778+3506… XM_047444091.1:c.778+3506TG[7]	N/A	Intron Variant
NIBAN1 transcript variant X2	XM_047444093.1:c.778+3506… XM_047444093.1:c.778+3506TG[7]	N/A	Intron Variant
NIBAN1 transcript variant X3	XM_047444094.1:c.778+3506… XM_047444094.1:c.778+3506TG[7]	N/A	Intron Variant
NIBAN1 transcript variant X4	XM_047444098.1:c.601+3506… XM_047444098.1:c.601+3506TG[7]	N/A	Intron Variant
NIBAN1 transcript variant X5	XM_047444102.1:c.601+3506… XM_047444102.1:c.601+3506TG[7]	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	(CA)₁₃=	del(CA)₆	del(CA)₅	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄
GRCh38.p14 chr 1	NC_000001.11:g.184881102_184881127=	NC_000001.11:g.184881102CA[7]	NC_000001.11:g.184881102CA[8]	NC_000001.11:g.184881102CA[10]	NC_000001.11:g.184881102CA[11]	NC_000001.11:g.184881102CA[12]	NC_000001.11:g.184881102CA[14]	NC_000001.11:g.184881102CA[15]	NC_000001.11:g.184881102CA[16]	NC_000001.11:g.184881102CA[17]
GRCh37.p13 chr 1	NC_000001.10:g.184850236_184850261=	NC_000001.10:g.184850236CA[7]	NC_000001.10:g.184850236CA[8]	NC_000001.10:g.184850236CA[10]	NC_000001.10:g.184850236CA[11]	NC_000001.10:g.184850236CA[12]	NC_000001.10:g.184850236CA[14]	NC_000001.10:g.184850236CA[15]	NC_000001.10:g.184850236CA[16]	NC_000001.10:g.184850236CA[17]
NIBAN1 RefSeqGene	NG_051588.1:g.98460_98485=	NG_051588.1:g.98460TG[7]	NG_051588.1:g.98460TG[8]	NG_051588.1:g.98460TG[10]	NG_051588.1:g.98460TG[11]	NG_051588.1:g.98460TG[12]	NG_051588.1:g.98460TG[14]	NG_051588.1:g.98460TG[15]	NG_051588.1:g.98460TG[16]	NG_051588.1:g.98460TG[17]
FAM129A transcript	NM_052966.3:c.601+3531=	NM_052966.3:c.601+3506TG[7]	NM_052966.3:c.601+3506TG[8]	NM_052966.3:c.601+3506TG[10]	NM_052966.3:c.601+3506TG[11]	NM_052966.3:c.601+3506TG[12]	NM_052966.3:c.601+3506TG[14]	NM_052966.3:c.601+3506TG[15]	NM_052966.3:c.601+3506TG[16]	NM_052966.3:c.601+3506TG[17]
NIBAN1 transcript	NM_052966.4:c.601+3531=	NM_052966.4:c.601+3506TG[7]	NM_052966.4:c.601+3506TG[8]	NM_052966.4:c.601+3506TG[10]	NM_052966.4:c.601+3506TG[11]	NM_052966.4:c.601+3506TG[12]	NM_052966.4:c.601+3506TG[14]	NM_052966.4:c.601+3506TG[15]	NM_052966.4:c.601+3506TG[16]	NM_052966.4:c.601+3506TG[17]
FAM129A transcript variant X1	XM_005244873.1:c.601+3531=	XM_005244873.1:c.601+3506TG[7]	XM_005244873.1:c.601+3506TG[8]	XM_005244873.1:c.601+3506TG[10]	XM_005244873.1:c.601+3506TG[11]	XM_005244873.1:c.601+3506TG[12]	XM_005244873.1:c.601+3506TG[14]	XM_005244873.1:c.601+3506TG[15]	XM_005244873.1:c.601+3506TG[16]	XM_005244873.1:c.601+3506TG[17]
NIBAN1 transcript variant X1	XM_047444091.1:c.778+3531=	XM_047444091.1:c.778+3506TG[7]	XM_047444091.1:c.778+3506TG[8]	XM_047444091.1:c.778+3506TG[10]	XM_047444091.1:c.778+3506TG[11]	XM_047444091.1:c.778+3506TG[12]	XM_047444091.1:c.778+3506TG[14]	XM_047444091.1:c.778+3506TG[15]	XM_047444091.1:c.778+3506TG[16]	XM_047444091.1:c.778+3506TG[17]
NIBAN1 transcript variant X2	XM_047444093.1:c.778+3531=	XM_047444093.1:c.778+3506TG[7]	XM_047444093.1:c.778+3506TG[8]	XM_047444093.1:c.778+3506TG[10]	XM_047444093.1:c.778+3506TG[11]	XM_047444093.1:c.778+3506TG[12]	XM_047444093.1:c.778+3506TG[14]	XM_047444093.1:c.778+3506TG[15]	XM_047444093.1:c.778+3506TG[16]	XM_047444093.1:c.778+3506TG[17]
NIBAN1 transcript variant X3	XM_047444094.1:c.778+3531=	XM_047444094.1:c.778+3506TG[7]	XM_047444094.1:c.778+3506TG[8]	XM_047444094.1:c.778+3506TG[10]	XM_047444094.1:c.778+3506TG[11]	XM_047444094.1:c.778+3506TG[12]	XM_047444094.1:c.778+3506TG[14]	XM_047444094.1:c.778+3506TG[15]	XM_047444094.1:c.778+3506TG[16]	XM_047444094.1:c.778+3506TG[17]
NIBAN1 transcript variant X4	XM_047444098.1:c.601+3531=	XM_047444098.1:c.601+3506TG[7]	XM_047444098.1:c.601+3506TG[8]	XM_047444098.1:c.601+3506TG[10]	XM_047444098.1:c.601+3506TG[11]	XM_047444098.1:c.601+3506TG[12]	XM_047444098.1:c.601+3506TG[14]	XM_047444098.1:c.601+3506TG[15]	XM_047444098.1:c.601+3506TG[16]	XM_047444098.1:c.601+3506TG[17]
NIBAN1 transcript variant X5	XM_047444102.1:c.601+3531=	XM_047444102.1:c.601+3506TG[7]	XM_047444102.1:c.601+3506TG[8]	XM_047444102.1:c.601+3506TG[10]	XM_047444102.1:c.601+3506TG[11]	XM_047444102.1:c.601+3506TG[12]	XM_047444102.1:c.601+3506TG[14]	XM_047444102.1:c.601+3506TG[15]	XM_047444102.1:c.601+3506TG[16]	XM_047444102.1:c.601+3506TG[17]

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#.

54 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss326112935	Jan 10, 2018 (151)
2	1000GENOMES	ss326148046	Oct 11, 2018 (152)
3	LUNTER	ss551000232	Jan 10, 2018 (151)
4	LUNTER	ss551023666	Apr 25, 2013 (138)
5	LUNTER	ss552824330	Jan 10, 2018 (151)
6	SSMP	ss663138865	Apr 01, 2015 (144)
7	1000GENOMES	ss1367921969	Aug 21, 2014 (142)
8	DDI	ss1536255936	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1701513338	Jan 10, 2018 (151)
10	EVA_UK10K_TWINSUK	ss1701513340	Jan 10, 2018 (151)
11	EVA_UK10K_ALSPAC	ss1709960750	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1709960768	Apr 01, 2015 (144)
13	SWEGEN	ss2988087610	Jan 10, 2018 (151)
14	MCHAISSO	ss3065338983	Nov 08, 2017 (151)
15	EVA_DECODE	ss3688189564	Jul 12, 2019 (153)
16	EVA_DECODE	ss3688189565	Jul 12, 2019 (153)
17	EVA_DECODE	ss3688189566	Jul 12, 2019 (153)
18	EVA_DECODE	ss3688189567	Jul 12, 2019 (153)
19	ACPOP	ss3727666575	Jul 12, 2019 (153)
20	ACPOP	ss3727666576	Jul 12, 2019 (153)
21	ACPOP	ss3727666577	Jul 12, 2019 (153)
22	PACBIO	ss3783626902	Jul 12, 2019 (153)
23	PACBIO	ss3789248580	Jul 12, 2019 (153)
24	PACBIO	ss3794120731	Jul 12, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3800064439	Jul 12, 2019 (153)
26	KOGIC	ss3946062761	Apr 25, 2020 (154)
27	KOGIC	ss3946062762	Apr 25, 2020 (154)
28	KOGIC	ss3946062763	Apr 25, 2020 (154)
29	KOGIC	ss3946062764	Apr 25, 2020 (154)
30	GNOMAD	ss4007341361	Apr 25, 2021 (155)
31	GNOMAD	ss4007341362	Apr 25, 2021 (155)
32	GNOMAD	ss4007341363	Apr 25, 2021 (155)
33	GNOMAD	ss4007341364	Apr 25, 2021 (155)
34	GNOMAD	ss4007341365	Apr 25, 2021 (155)
35	GNOMAD	ss4007341366	Apr 25, 2021 (155)
36	GNOMAD	ss4007341367	Apr 25, 2021 (155)
37	TOPMED	ss4475675480	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5147423492	Apr 25, 2021 (155)
39	TOMMO_GENOMICS	ss5147423493	Apr 25, 2021 (155)
40	TOMMO_GENOMICS	ss5147423494	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5147423495	Apr 25, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5245016459	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5245016460	Oct 12, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5245016461	Oct 12, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5245016462	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5445529636	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5445529637	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5445529638	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5674894045	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5674894046	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5674894047	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5674894048	Oct 12, 2022 (156)
53	EVA	ss5832952180	Oct 12, 2022 (156)
54	EVA	ss5832952181	Oct 12, 2022 (156)
55	1000Genomes	NC_000001.10 - 184850236	Oct 11, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2514628 (NC_000001.10:184850235:CA: 617/3854) Row 2514629 (NC_000001.10:184850235::CA 233/3854)	-	Oct 11, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2514628 (NC_000001.10:184850235:CA: 617/3854) Row 2514629 (NC_000001.10:184850235::CA 233/3854)	-	Oct 11, 2018 (152)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 33074387 (NC_000001.11:184881101::CA 21188/135440) Row 33074388 (NC_000001.11:184881101::CACA 898/135586) Row 33074389 (NC_000001.11:184881101::CACACA 53/135602)...	-	Apr 25, 2021 (155)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 2440762 (NC_000001.11:184881105::CA 229/1832) Row 2440763 (NC_000001.11:184881103:CA: 126/1832) Row 2440764 (NC_000001.11:184881101:CACA: 3/1832)...	-	Apr 25, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 2440762 (NC_000001.11:184881105::CA 229/1832) Row 2440763 (NC_000001.11:184881103:CA: 126/1832) Row 2440764 (NC_000001.11:184881101:CACA: 3/1832)...	-	Apr 25, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 2440762 (NC_000001.11:184881105::CA 229/1832) Row 2440763 (NC_000001.11:184881103:CA: 126/1832) Row 2440764 (NC_000001.11:184881101:CACA: 3/1832)...	-	Apr 25, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 2440762 (NC_000001.11:184881105::CA 229/1832) Row 2440763 (NC_000001.11:184881103:CA: 126/1832) Row 2440764 (NC_000001.11:184881101:CACA: 3/1832)...	-	Apr 25, 2020 (154)
69	Northern Sweden Submission ignored due to conflicting rows: Row 951440 (NC_000001.10:184850235::CA 50/600) Row 951441 (NC_000001.10:184850235:CA: 1/600) Row 951442 (NC_000001.10:184850235::CACA 1/600)	-	Jul 12, 2019 (153)
70	Northern Sweden Submission ignored due to conflicting rows: Row 951440 (NC_000001.10:184850235::CA 50/600) Row 951441 (NC_000001.10:184850235:CA: 1/600) Row 951442 (NC_000001.10:184850235::CACA 1/600)	-	Jul 12, 2019 (153)
71	Northern Sweden Submission ignored due to conflicting rows: Row 951440 (NC_000001.10:184850235::CA 50/600) Row 951441 (NC_000001.10:184850235:CA: 1/600) Row 951442 (NC_000001.10:184850235::CACA 1/600)	-	Jul 12, 2019 (153)
72	8.3KJPN Submission ignored due to conflicting rows: Row 5392799 (NC_000001.10:184850235::CA 1767/16760) Row 5392800 (NC_000001.10:184850235:CA: 47/16760) Row 5392801 (NC_000001.10:184850235:CACACACACA: 1/16760)...	-	Apr 25, 2021 (155)
73	8.3KJPN Submission ignored due to conflicting rows: Row 5392799 (NC_000001.10:184850235::CA 1767/16760) Row 5392800 (NC_000001.10:184850235:CA: 47/16760) Row 5392801 (NC_000001.10:184850235:CACACACACA: 1/16760)...	-	Apr 25, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 5392799 (NC_000001.10:184850235::CA 1767/16760) Row 5392800 (NC_000001.10:184850235:CA: 47/16760) Row 5392801 (NC_000001.10:184850235:CACACACACA: 1/16760)...	-	Apr 25, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 5392799 (NC_000001.10:184850235::CA 1767/16760) Row 5392800 (NC_000001.10:184850235:CA: 47/16760) Row 5392801 (NC_000001.10:184850235:CACACACACA: 1/16760)...	-	Apr 25, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 8731149 (NC_000001.11:184881101:CA: 41/28256) Row 8731150 (NC_000001.11:184881101::CA 3013/28256) Row 8731151 (NC_000001.11:184881101:CACACACACA: 1/28256)...	-	Oct 12, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 8731149 (NC_000001.11:184881101:CA: 41/28256) Row 8731150 (NC_000001.11:184881101::CA 3013/28256) Row 8731151 (NC_000001.11:184881101:CACACACACA: 1/28256)...	-	Oct 12, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 8731149 (NC_000001.11:184881101:CA: 41/28256) Row 8731150 (NC_000001.11:184881101::CA 3013/28256) Row 8731151 (NC_000001.11:184881101:CACACACACA: 1/28256)...	-	Oct 12, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 8731149 (NC_000001.11:184881101:CA: 41/28256) Row 8731150 (NC_000001.11:184881101::CA 3013/28256) Row 8731151 (NC_000001.11:184881101:CACACACACA: 1/28256)...	-	Oct 12, 2022 (156)
80	TopMed	NC_000001.11 - 184881102	Apr 25, 2021 (155)
81	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2514628 (NC_000001.10:184850235:CA: 670/3708) Row 2514629 (NC_000001.10:184850235::CA 238/3708)	-	Oct 11, 2018 (152)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2514628 (NC_000001.10:184850235:CA: 670/3708) Row 2514629 (NC_000001.10:184850235::CA 238/3708)	-	Oct 11, 2018 (152)
83	A Vietnamese Genetic Variation Database	NC_000001.10 - 184850236	Jul 12, 2019 (153)
84	ALFA	NC_000001.11 - 184881102	Apr 25, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACA	(self)
ss5147423494	NC_000001.10:184850235:CACACACACA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACA	(self)
ss5674894047	NC_000001.11:184881101:CACACACACA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACA
39281815, ss4007341367, ss4475675480	NC_000001.11:184881101:CACACA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACA	(self)
ss3688189567, ss3946062763, ss4007341366, ss5245016462	NC_000001.11:184881101:CACA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACA	(self)
ss326112935, ss551000232, ss552824330	NC_000001.9:183116858:CA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss1701513338, ss1701513340, ss2988087610, ss3727666576, ss5147423493, ss5832952181	NC_000001.10:184850235:CA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss4007341365, ss5245016461, ss5445529637, ss5674894045	NC_000001.11:184881101:CA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss3688189566, ss3946062762	NC_000001.11:184881103:CA:	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss326148046, ss551023666	NC_000001.9:183116858::CA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
4583783, 538792, ss663138865, ss1367921969, ss1536255936, ss3727666575, ss3783626902, ss3789248580, ss3794120731, ss5147423492, ss5832952180	NC_000001.10:184850235::CA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
ss1709960750, ss1709960768	NC_000001.10:184850237::CA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
ss3065338983, ss3800064439, ss4007341361, ss5245016459, ss5445529636, ss5674894046	NC_000001.11:184881101::CA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
ss3688189565, ss3946062761	NC_000001.11:184881105::CA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
ss3727666577, ss5147423495	NC_000001.10:184850235::CACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
ss4007341362, ss5245016460, ss5445529638, ss5674894048	NC_000001.11:184881101::CACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
ss3688189564, ss3946062764	NC_000001.11:184881105::CACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
ss4007341363	NC_000001.11:184881101::CACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
ss4007341364	NC_000001.11:184881101::CACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
9713305597	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	NC_000001.11:184881101:CACACACACAC… NC_000001.11:184881101:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(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 rs375874645

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

rs375874645