Name: rs1184109662
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.

rs1184109662

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:108436593-108436613 (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)₁₁ / del(A)₉ / del(A)₈ / del…
del(A)₁₁ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / delAAA / delAA / delA / dupA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.0000 (0/7054, ALFA)
del(A)₉=0.0000 (0/7054, ALFA)
del(A)₈=0.0000 (0/7054, ALFA) (+ 7 more)
del(A)₇=0.0000 (0/7054, ALFA)
del(A)₆=0.0000 (0/7054, ALFA)
del(A)₅=0.0000 (0/7054, ALFA)
delAAA=0.0000 (0/7054, ALFA)
delAA=0.0000 (0/7054, ALFA)
delA=0.0000 (0/7054, ALFA)
dupA=0.0000 (0/7054, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NBPF6 : Intron Variant
LOC124905418 : 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	7054	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4302	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1934	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	82	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1852	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	72	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	52	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	20	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	74	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	362	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	46	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	264	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=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	7054	(A)₂₁=1.0000	del(A)₁₁=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, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	European	Sub	4302	(A)₂₁=1.0000	del(A)₁₁=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, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	African	Sub	1934	(A)₂₁=1.0000	del(A)₁₁=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, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	362	(A)₂₁=1.000	del(A)₁₁=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, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	264	(A)₂₁=1.000	del(A)₁₁=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, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	74	(A)₂₁=1.00	del(A)₁₁=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, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	72	(A)₂₁=1.00	del(A)₁₁=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, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	46	(A)₂₁=1.00	del(A)₁₁=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, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.108436603_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436605_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436606_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436607_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436608_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436609_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436611_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436612_108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436613del
GRCh38.p14 chr 1	NC_000001.11:g.108436613dup
GRCh38.p14 chr 1	NC_000001.11:g.108436611_108436613dup
GRCh38.p14 chr 1	NC_000001.11:g.108436610_108436613dup
GRCh38.p14 chr 1	NC_000001.11:g.108436609_108436613dup
GRCh38.p14 chr 1	NC_000001.11:g.108436605_108436613dup
GRCh38.p14 chr 1	NC_000001.11:g.108436604_108436613dup
GRCh38.p14 chr 1	NC_000001.11:g.108436596_108436613dup
GRCh37.p13 chr 1	NC_000001.10:g.108979225_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979227_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979228_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979229_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979230_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979231_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979233_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979234_108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979235del
GRCh37.p13 chr 1	NC_000001.10:g.108979235dup
GRCh37.p13 chr 1	NC_000001.10:g.108979233_108979235dup
GRCh37.p13 chr 1	NC_000001.10:g.108979232_108979235dup
GRCh37.p13 chr 1	NC_000001.10:g.108979231_108979235dup
GRCh37.p13 chr 1	NC_000001.10:g.108979227_108979235dup
GRCh37.p13 chr 1	NC_000001.10:g.108979226_108979235dup
GRCh37.p13 chr 1	NC_000001.10:g.108979218_108979235dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269793_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269795_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269796_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269797_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269798_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269799_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269801_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269802_269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269803del
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269803dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269801_269803dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269800_269803dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269799_269803dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269795_269803dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269794_269803dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269786_269803dup

Gene: NBPF6, NBPF member 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NBPF6 transcript variant 1	NM_001143987.2:c.	N/A	Genic Upstream Transcript Variant
NBPF6 transcript variant 2	NM_001143988.2:c.	N/A	Genic Upstream Transcript Variant
NBPF6 transcript variant X5	XM_011542012.3:c.-93+1464… XM_011542012.3:c.-93+1464_-93+1474del	N/A	Intron Variant
NBPF6 transcript variant X6	XM_017002148.2:c.-93+1464… XM_017002148.2:c.-93+1464_-93+1474del	N/A	Intron Variant
NBPF6 transcript variant X1	XM_047428683.1:c.-93+1464… XM_047428683.1:c.-93+1464_-93+1474del	N/A	Intron Variant
NBPF6 transcript variant X2	XM_047428684.1:c.-1062+45… XM_047428684.1:c.-1062+4552_-1062+4562del	N/A	Intron Variant
NBPF6 transcript variant X3	XM_047428685.1:c.-1062+14… XM_047428685.1:c.-1062+1464_-1062+1474del	N/A	Intron Variant
NBPF6 transcript variant X4	XM_047428686.1:c.-1062+37… XM_047428686.1:c.-1062+3754_-1062+3764del	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)₂₁=	del(A)₁₁	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	delAAA	delAA	delA	dupA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₉	dup(A)₁₀	dup(A)₁₈
GRCh38.p14 chr 1	NC_000001.11:g.108436593_108436613=	NC_000001.11:g.108436603_108436613del	NC_000001.11:g.108436605_108436613del	NC_000001.11:g.108436606_108436613del	NC_000001.11:g.108436607_108436613del	NC_000001.11:g.108436608_108436613del	NC_000001.11:g.108436609_108436613del	NC_000001.11:g.108436611_108436613del	NC_000001.11:g.108436612_108436613del	NC_000001.11:g.108436613del	NC_000001.11:g.108436613dup	NC_000001.11:g.108436611_108436613dup	NC_000001.11:g.108436610_108436613dup	NC_000001.11:g.108436609_108436613dup	NC_000001.11:g.108436605_108436613dup	NC_000001.11:g.108436604_108436613dup	NC_000001.11:g.108436596_108436613dup
GRCh37.p13 chr 1	NC_000001.10:g.108979215_108979235=	NC_000001.10:g.108979225_108979235del	NC_000001.10:g.108979227_108979235del	NC_000001.10:g.108979228_108979235del	NC_000001.10:g.108979229_108979235del	NC_000001.10:g.108979230_108979235del	NC_000001.10:g.108979231_108979235del	NC_000001.10:g.108979233_108979235del	NC_000001.10:g.108979234_108979235del	NC_000001.10:g.108979235del	NC_000001.10:g.108979235dup	NC_000001.10:g.108979233_108979235dup	NC_000001.10:g.108979232_108979235dup	NC_000001.10:g.108979231_108979235dup	NC_000001.10:g.108979227_108979235dup	NC_000001.10:g.108979226_108979235dup	NC_000001.10:g.108979218_108979235dup
GRCh38.p14 chr 1 novel patch HSCHR1_6_CTG3	NW_017852928.1:g.269783_269803=	NW_017852928.1:g.269793_269803del	NW_017852928.1:g.269795_269803del	NW_017852928.1:g.269796_269803del	NW_017852928.1:g.269797_269803del	NW_017852928.1:g.269798_269803del	NW_017852928.1:g.269799_269803del	NW_017852928.1:g.269801_269803del	NW_017852928.1:g.269802_269803del	NW_017852928.1:g.269803del	NW_017852928.1:g.269803dup	NW_017852928.1:g.269801_269803dup	NW_017852928.1:g.269800_269803dup	NW_017852928.1:g.269799_269803dup	NW_017852928.1:g.269795_269803dup	NW_017852928.1:g.269794_269803dup	NW_017852928.1:g.269786_269803dup
NBPF6 transcript variant X5	XM_011542012.3:c.-93+1454=	XM_011542012.3:c.-93+1464_-93+1474del	XM_011542012.3:c.-93+1466_-93+1474del	XM_011542012.3:c.-93+1467_-93+1474del	XM_011542012.3:c.-93+1468_-93+1474del	XM_011542012.3:c.-93+1469_-93+1474del	XM_011542012.3:c.-93+1470_-93+1474del	XM_011542012.3:c.-93+1472_-93+1474del	XM_011542012.3:c.-93+1473_-93+1474del	XM_011542012.3:c.-93+1474del	XM_011542012.3:c.-93+1474dup	XM_011542012.3:c.-93+1472_-93+1474dup	XM_011542012.3:c.-93+1471_-93+1474dup	XM_011542012.3:c.-93+1470_-93+1474dup	XM_011542012.3:c.-93+1466_-93+1474dup	XM_011542012.3:c.-93+1465_-93+1474dup	XM_011542012.3:c.-93+1457_-93+1474dup
NBPF6 transcript variant X6	XM_017002148.2:c.-93+1454=	XM_017002148.2:c.-93+1464_-93+1474del	XM_017002148.2:c.-93+1466_-93+1474del	XM_017002148.2:c.-93+1467_-93+1474del	XM_017002148.2:c.-93+1468_-93+1474del	XM_017002148.2:c.-93+1469_-93+1474del	XM_017002148.2:c.-93+1470_-93+1474del	XM_017002148.2:c.-93+1472_-93+1474del	XM_017002148.2:c.-93+1473_-93+1474del	XM_017002148.2:c.-93+1474del	XM_017002148.2:c.-93+1474dup	XM_017002148.2:c.-93+1472_-93+1474dup	XM_017002148.2:c.-93+1471_-93+1474dup	XM_017002148.2:c.-93+1470_-93+1474dup	XM_017002148.2:c.-93+1466_-93+1474dup	XM_017002148.2:c.-93+1465_-93+1474dup	XM_017002148.2:c.-93+1457_-93+1474dup
NBPF6 transcript variant X1	XM_047428683.1:c.-93+1454=	XM_047428683.1:c.-93+1464_-93+1474del	XM_047428683.1:c.-93+1466_-93+1474del	XM_047428683.1:c.-93+1467_-93+1474del	XM_047428683.1:c.-93+1468_-93+1474del	XM_047428683.1:c.-93+1469_-93+1474del	XM_047428683.1:c.-93+1470_-93+1474del	XM_047428683.1:c.-93+1472_-93+1474del	XM_047428683.1:c.-93+1473_-93+1474del	XM_047428683.1:c.-93+1474del	XM_047428683.1:c.-93+1474dup	XM_047428683.1:c.-93+1472_-93+1474dup	XM_047428683.1:c.-93+1471_-93+1474dup	XM_047428683.1:c.-93+1470_-93+1474dup	XM_047428683.1:c.-93+1466_-93+1474dup	XM_047428683.1:c.-93+1465_-93+1474dup	XM_047428683.1:c.-93+1457_-93+1474dup
NBPF6 transcript variant X2	XM_047428684.1:c.-1062+4542=	XM_047428684.1:c.-1062+4552_-1062+4562del	XM_047428684.1:c.-1062+4554_-1062+4562del	XM_047428684.1:c.-1062+4555_-1062+4562del	XM_047428684.1:c.-1062+4556_-1062+4562del	XM_047428684.1:c.-1062+4557_-1062+4562del	XM_047428684.1:c.-1062+4558_-1062+4562del	XM_047428684.1:c.-1062+4560_-1062+4562del	XM_047428684.1:c.-1062+4561_-1062+4562del	XM_047428684.1:c.-1062+4562del	XM_047428684.1:c.-1062+4562dup	XM_047428684.1:c.-1062+4560_-1062+4562dup	XM_047428684.1:c.-1062+4559_-1062+4562dup	XM_047428684.1:c.-1062+4558_-1062+4562dup	XM_047428684.1:c.-1062+4554_-1062+4562dup	XM_047428684.1:c.-1062+4553_-1062+4562dup	XM_047428684.1:c.-1062+4545_-1062+4562dup
NBPF6 transcript variant X3	XM_047428685.1:c.-1062+1454=	XM_047428685.1:c.-1062+1464_-1062+1474del	XM_047428685.1:c.-1062+1466_-1062+1474del	XM_047428685.1:c.-1062+1467_-1062+1474del	XM_047428685.1:c.-1062+1468_-1062+1474del	XM_047428685.1:c.-1062+1469_-1062+1474del	XM_047428685.1:c.-1062+1470_-1062+1474del	XM_047428685.1:c.-1062+1472_-1062+1474del	XM_047428685.1:c.-1062+1473_-1062+1474del	XM_047428685.1:c.-1062+1474del	XM_047428685.1:c.-1062+1474dup	XM_047428685.1:c.-1062+1472_-1062+1474dup	XM_047428685.1:c.-1062+1471_-1062+1474dup	XM_047428685.1:c.-1062+1470_-1062+1474dup	XM_047428685.1:c.-1062+1466_-1062+1474dup	XM_047428685.1:c.-1062+1465_-1062+1474dup	XM_047428685.1:c.-1062+1457_-1062+1474dup
NBPF6 transcript variant X4	XM_047428686.1:c.-1062+3744=	XM_047428686.1:c.-1062+3754_-1062+3764del	XM_047428686.1:c.-1062+3756_-1062+3764del	XM_047428686.1:c.-1062+3757_-1062+3764del	XM_047428686.1:c.-1062+3758_-1062+3764del	XM_047428686.1:c.-1062+3759_-1062+3764del	XM_047428686.1:c.-1062+3760_-1062+3764del	XM_047428686.1:c.-1062+3762_-1062+3764del	XM_047428686.1:c.-1062+3763_-1062+3764del	XM_047428686.1:c.-1062+3764del	XM_047428686.1:c.-1062+3764dup	XM_047428686.1:c.-1062+3762_-1062+3764dup	XM_047428686.1:c.-1062+3761_-1062+3764dup	XM_047428686.1:c.-1062+3760_-1062+3764dup	XM_047428686.1:c.-1062+3756_-1062+3764dup	XM_047428686.1:c.-1062+3755_-1062+3764dup	XM_047428686.1:c.-1062+3747_-1062+3764dup

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#.

30 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2987407179	Nov 08, 2017 (151)
2	EVA_DECODE	ss3687492444	Jul 12, 2019 (153)
3	EVA_DECODE	ss3687492445	Jul 12, 2019 (153)
4	EVA_DECODE	ss3687492446	Jul 12, 2019 (153)
5	EVA_DECODE	ss3687492447	Jul 12, 2019 (153)
6	EVA_DECODE	ss3687492448	Jul 12, 2019 (153)
7	GNOMAD	ss4000108451	Apr 25, 2021 (155)
8	GNOMAD	ss4000108452	Apr 25, 2021 (155)
9	GNOMAD	ss4000108453	Apr 25, 2021 (155)
10	GNOMAD	ss4000108454	Apr 25, 2021 (155)
11	GNOMAD	ss4000108455	Apr 25, 2021 (155)
12	GNOMAD	ss4000108456	Apr 25, 2021 (155)
13	GNOMAD	ss4000108457	Apr 25, 2021 (155)
14	GNOMAD	ss4000108458	Apr 25, 2021 (155)
15	GNOMAD	ss4000108459	Apr 25, 2021 (155)
16	GNOMAD	ss4000108460	Apr 25, 2021 (155)
17	GNOMAD	ss4000108461	Apr 25, 2021 (155)
18	GNOMAD	ss4000108462	Apr 25, 2021 (155)
19	GNOMAD	ss4000108463	Apr 25, 2021 (155)
20	GNOMAD	ss4000108464	Apr 25, 2021 (155)
21	GNOMAD	ss4000108465	Apr 25, 2021 (155)
22	TOMMO_GENOMICS	ss5145594039	Apr 25, 2021 (155)
23	TOMMO_GENOMICS	ss5145594040	Apr 25, 2021 (155)
24	HUGCELL_USP	ss5444474888	Oct 12, 2022 (156)
25	HUGCELL_USP	ss5444474889	Oct 12, 2022 (156)
26	HUGCELL_USP	ss5444474890	Oct 12, 2022 (156)
27	TOMMO_GENOMICS	ss5670835746	Oct 12, 2022 (156)
28	TOMMO_GENOMICS	ss5670835747	Oct 12, 2022 (156)
29	TOMMO_GENOMICS	ss5670835749	Oct 12, 2022 (156)
30	YY_MCH	ss5800916145	Oct 12, 2022 (156)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22139163 (NC_000001.11:108436592::A 1097/15340) Row 22139164 (NC_000001.11:108436592::AAA 3/15420) Row 22139165 (NC_000001.11:108436592::AAAA 10/15424)...	-	Apr 25, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 3563346 (NC_000001.10:108979214:AA: 1420/9358) Row 3563347 (NC_000001.10:108979214:A: 42/9358)	-	Apr 25, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 3563346 (NC_000001.10:108979214:AA: 1420/9358) Row 3563347 (NC_000001.10:108979214:A: 42/9358)	-	Apr 25, 2021 (155)
48	14KJPN Submission ignored due to conflicting rows: Row 4672850 (NC_000001.11:108436592:AA: 1961/14564) Row 4672851 (NC_000001.11:108436592:A: 70/14564) Row 4672853 (NC_000001.11:108436592::A 9/14564)	-	Oct 12, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 4672850 (NC_000001.11:108436592:AA: 1961/14564) Row 4672851 (NC_000001.11:108436592:A: 70/14564) Row 4672853 (NC_000001.11:108436592::A 9/14564)	-	Oct 12, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 4672850 (NC_000001.11:108436592:AA: 1961/14564) Row 4672851 (NC_000001.11:108436592:A: 70/14564) Row 4672853 (NC_000001.11:108436592::A 9/14564)	-	Oct 12, 2022 (156)
51	ALFA	NC_000001.11 - 108436593	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
ss4000108465	NC_000001.11:108436592:AAAAAAAAAAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4000108464	NC_000001.11:108436592:AAAAAAAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4000108463	NC_000001.11:108436592:AAAAAAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4000108462	NC_000001.11:108436592:AAAAAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3687492448, ss4000108461	NC_000001.11:108436592:AAAAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4000108460	NC_000001.11:108436592:AAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3687492447	NC_000001.11:108436594:AAA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss2987407179, ss5145594039	NC_000001.10:108979214:AA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4000108459, ss5444474890, ss5670835746, ss5800916145	NC_000001.11:108436592:AA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3687492446	NC_000001.11:108436595:AA:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5145594040	NC_000001.10:108979214:A:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4000108458, ss5444474888, ss5670835747	NC_000001.11:108436592:A:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3687492445	NC_000001.11:108436596:A:	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4000108451, ss5444474889, ss5670835749	NC_000001.11:108436592::A	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11553304810	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3687492444	NC_000001.11:108436597::A	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4000108452	NC_000001.11:108436592::AAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4000108453	NC_000001.11:108436592::AAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4000108454	NC_000001.11:108436592::AAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4000108455	NC_000001.11:108436592::AAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4000108456	NC_000001.11:108436592::AAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4000108457	NC_000001.11:108436592::AAAAAAAAAA… NC_000001.11:108436592::AAAAAAAAAAAAAAAAAA	NC_000001.11:108436592:AAAAAAAAAAA… NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs1184109662

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1184109662